Showing posts with label OCA2. Show all posts
Showing posts with label OCA2. Show all posts

December 29, 2015

Bronze Age people from Ireland had steppe ancestry and R1b

From the paper:
We were able to deduce that Neolithic Ballynahatty had a dark hair shade (99.5% probability), most likely black (86.1% probability), and brown eyes (97.3% probability) (46). Bronze Age Rathlin1 probably had a light hair shade (61.4%) and brown eyes (64.3%). However, each Rathlin genome possessed indication of at least one copy of a haplotype associated with blue eye color in the HERC2/OCA2 region.
and:
Third, we followed the methods described in Haak et al. (9), which use a collection of outgroup populations, to estimate the mixture proportions of three different sources, Linearbandkeramik (Early Neolithic; 35 ± 6%), Loschbour (WHG; 26 ± 12%), and Yamnaya (39 ± 8%), in the total Irish Bronze Age group. These three approaches give an overlapping estimate of ∼32% Yamnaya ancestry.
PNAS doi: 10.1073/pnas.1518445113

Neolithic and Bronze Age migration to Ireland and establishment of the insular Atlantic genome

Lara M. Cassidy, Rui Martiniano et al.

The Neolithic and Bronze Age transitions were profound cultural shifts catalyzed in parts of Europe by migrations, first of early farmers from the Near East and then Bronze Age herders from the Pontic Steppe. However, a decades-long, unresolved controversy is whether population change or cultural adoption occurred at the Atlantic edge, within the British Isles. We address this issue by using the first whole genome data from prehistoric Irish individuals. A Neolithic woman (3343–3020 cal BC) from a megalithic burial (10.3× coverage) possessed a genome of predominantly Near Eastern origin. She had some hunter–gatherer ancestry but belonged to a population of large effective size, suggesting a substantial influx of early farmers to the island. Three Bronze Age individuals from Rathlin Island (2026–1534 cal BC), including one high coverage (10.5×) genome, showed substantial Steppe genetic heritage indicating that the European population upheavals of the third millennium manifested all of the way from southern Siberia to the western ocean. This turnover invites the possibility of accompanying introduction of Indo-European, perhaps early Celtic, language. Irish Bronze Age haplotypic similarity is strongest within modern Irish, Scottish, and Welsh populations, and several important genetic variants that today show maximal or very high frequencies in Ireland appear at this horizon. These include those coding for lactase persistence, blue eye color, Y chromosome R1b haplotypes, and the hemochromatosis C282Y allele; to our knowledge, the first detection of a known Mendelian disease variant in prehistory. These findings together suggest the establishment of central attributes of the Irish genome 4,000 y ago.

Link

February 14, 2014

AAPA 2014 abstracts

The program of the 83rd Annual Meeting of the American Association of Physical Anthropologists is online (pdf). I list some interesting titles:

  • Ancient DNA sequencing on the Ion Torrent PGM and Proton Platforms: Genetic diversity of haplotype D4b1a2a1a at Nuvuk, an ancient Thule Village
  • Preliminary analysis of ancient DNA on a late Neolithic population in Northeast China
  • Ancient DNA analysis of human remains from Halahaigou, a Neolithic cemetery in China
  • Mitochondrial DNA analysis reveals substantial population structure in Hecun, a shell mound in South China
  • Kinship analysis of ancient samples in the Noble Family cemetery of the Yuan Dynasty
  • Ancient DNA analysis of an infant from Sudanese Nubia (ca 500-1400 C.E.)
  • Ancient DNA analysis of human skeletal remains from pre-Columbian Puerto Rico
  • Ancient DNA from Early to Mid-Holocene Burials in Northwestern Argentina: Implications for understanding the colonization and early populations of South America
  • Ancient DNA from the Schild site in Illinois: Implications for the Mississippian transition in the Lower Illinois River Valley
  • Patterns of sequence variation at the pigmentation loci ASIP and OCA2 in Melanesian and African populations
  • Evolution of the HERC2 eye color gene in Europeans using linkage disequilibrium analysis in four human populations
  • Whole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa
  • The Qesem Cave mandibular premolars and molar from a morphometric perspective.
  • Exploring the relationship of Neanderthals and modern humans at various population levels through an analysis of body proportion indices
  • Early human dispersal from Africa: A model-based test of two hypotheses

November 05, 2012

GWAS study of pigmentation in four European countries

From the paper:
Males (M) have consistently lighter pigmentation (lower scored) than females (F) in all four countries. Among countries, the largest pigmentation difference is with Ireland, where, in our sample, individuals have lighter pigmentation or lower M index on average than in Poland, Italy, or Portugal. Hair pigmentation histogram (C) and boxplot by country (D) in 341 individuals showing the distribution of hair pigmentation and the differences among countries. In our sample, individuals from Northern European countries (Ireland, Poland) have on average lighter hair pigmentation than individuals from Southern European countries (Italy, Portugal). The distributions in males are similar to those in females in all countries except Ireland, where, in our sample, males have darker hair color than females (not shown). Eye pigmentation histogram (E) and boxplot by country (F) in 468 individuals showing the bimodal distribution of eye pigmentation and the differences among countries. Comparison with self-reported phenotypes shows that the two modes of the distribution correspond to blue and brown eye color, while individuals reporting green and hazel eye color have intermediate C’ values. As with hair pigmentation, in our sample, individuals from Northern European countries have on average lighter eye pigmentation than individuals from Southern European countries. 
...   
Interestingly, our analysis of variation in skin color in Europe demonstrates a consistent difference in skin color between the sexes. By the DermaSpectrometer M index measure, males are more lightly pigmented than females in each of the four European countries we studied. The same trend in M index was reported previously in a sample of European Americans [38]. Our results in populations of European ancestry contradict earlier anthropological studies that have concluded females are more lightly pigmented than males in most populations (reviewed in [2]). One potential reason for the conflicting results is the different instruments used. In early studies, which used the Evans Electric Limited (EEL) and Photovolt broad-spectrum spectrophotometers, skin pigmentation estimates may be confounded by the hemoglobin level to a greater extent than for the DermaSpectrometer used in the present study [46].

Some data (lower = lighter):



One thing of interest is that while Irish males/females are both lighter-eyed than other Europeans, including Poles from northern Europe, Irish females appear to be lighter-haired than Irish males (96.3 vs. 106.7), but no such substantial sex difference exists in the Poles in this trait (107.5 vs. 109.5). Sexual dimorphism seems to lean in the direction of lighter male skins and lighter female hair across the four countries.

Peter Frost has offered the theory that "gentlemen prefer blondes" because during the Ice Age boreal hunters lived a harsh lifestyle that killed many of them, but the remainder could not adopt a polygynous lifestyle, because provisioning for a wife was expensive. As a result, women had to compete for the remaining men, and men could be picky, preferring those with a "rare color advantage." It is not immediately clear to me how this might explain the Ireland vs. Poland differentiation, assuming it reflects a broader NW/NE trend, since NE Europeans are more likely to be descended from hunter-gatherers of the tundra-steppe.

PLoS ONE 7(10): e48294. doi:10.1371/journal.pone.0048294

Genome-Wide Association Studies of Quantitatively Measured Skin, Hair, and Eye Pigmentation in Four European Populations

Sophie I. Candille et al.

Pigmentation of the skin, hair, and eyes varies both within and between human populations. Identifying the genes and alleles underlying this variation has been the goal of many candidate gene and several genome-wide association studies (GWAS). Most GWAS for pigmentary traits to date have been based on subjective phenotypes using categorical scales. But skin, hair, and eye pigmentation vary continuously. Here, we seek to characterize quantitative variation in these traits objectively and accurately and to determine their genetic basis. Objective and quantitative measures of skin, hair, and eye color were made using reflectance or digital spectroscopy in Europeans from Ireland, Poland, Italy, and Portugal. A GWAS was conducted for the three quantitative pigmentation phenotypes in 176 women across 313,763 SNP loci, and replication of the most significant associations was attempted in a sample of 294 European men and women from the same countries. We find that the pigmentation phenotypes are highly stratified along axes of European genetic differentiation. The country of sampling explains approximately 35% of the variation in skin pigmentation, 31% of the variation in hair pigmentation, and 40% of the variation in eye pigmentation. All three quantitative phenotypes are correlated with each other. In our two-stage association study, we reproduce the association of rs1667394 at the OCA2/HERC2 locus with eye color but we do not identify new genetic determinants of skin and hair pigmentation supporting the lack of major genes affecting skin and hair color variation within Europe and suggesting that not only careful phenotyping but also larger cohorts are required to understand the genetic architecture of these complex quantitative traits. Interestingly, we also see that in each of these four populations, men are more lightly pigmented in the unexposed skin of the inner arm than women, a fact that is underappreciated and may vary across the world.

Link

January 11, 2012

How people get blue eyes

Genome-wide association studies can uncover links between genetic variants and phenotypes, even in the absence of any knowledge of how these links come about. All it takes is to make a statistical case linking genetic variation with the recorded phenotypic information.

This is somewhat unsatisfactory for a couple of reasons. First, we would like to know how cause and effect works, rather than simply observe that it does. Why do some people with certain genetic alleles have blue eyes?

Second, such functional studies allow us to predict phenotypes from genotypes. A great number of genetic mutations may cause particular phenotypes, and we are only able to discover associations between a subset of them that happens to exist in a population. Developing knowledge about function, rather than just statistical association, may help us in the future to infer the phenotypes of individuals from the deep past for which all non-osteological traces of phenotype have vanished, and may have been affected by genetic variants that are now extinct.

Many human traits are governed by a great number of genes, either through additive effects, or through complex interactions. Eye color is an example of a particular trait the genetic underpinnings of which in Caucasoids (other races have eyes that are uniformly brown) have been known for a while. Now a new study shows precisely how genetic mutations disrupt the formation of pigment in melanocytes, resulting in light-pigmented irides.


Genome Res doi:10.1101/gr.128652.111

HERC2 rs12913832 modulates human pigmentation by attenuating chromatin loop formation between a long-range enhancer and the OCA2 promoter

Mijke Visser et al.

Pigmentation of skin, eye and hair reflects some of the most evident common phenotypes in humans. Several candidate genes for human pigmentation are identified, and the SNP rs12913832 has strong statistical association with human pigmentation. It is located within an intron of the non-pigment gene HERC2, 21 kb upstream of the pigment gene OCA2, and the region surrounding rs12913832 is highly conserved among animal species. However, the exact functional role of HERC2 rs12913832 in human pigmentation is unknown. Here we demonstrate that the HERC2 rs12913832 region functions as an enhancer regulating OCA2 transcription. In darkly pigmented human melanocytes carrying the rs12913832 T-allele, we detected binding of the transcription factors HLTF, LEF1 and MITF to the HERC2 rs12913832 enhancer, and a long-range chromatin loop between this enhancer and the OCA2 promoter which leads to elevated OCA2 expression. In contrast, in lightly pigmented melanocytes carrying the rs12913832 C-allele, chromatin-loop formation, transcription factor recruitment and OCA2 expression are all reduced. Hence, we demonstrate that allelic variation of a common non-coding SNP located in a distal regulatory element not only disrupts the regulatory potential of this element but also affects its interaction with the relevant promoter. We provide the key mechanistic insight that allele-dependent differences in chromatin-loop formation (i.e. structural differences in the folding of gene loci) results in differences in allelic gene expression that affects common phenotypic traits. This concept is highly relevant for future studies aiming to unveil the functional basis of genetically-determined phenotypes including diseases.

Link

December 03, 2011

Selection for skin color: not so simple

Investigative Genetics 2011, 2:24 doi:10.1186/2041-2223-2-24

Contrasting signals of positive selection in genes involved in human skin color variation from tests based on SNP scans and resequencing

Johanna Maria de Gruijter et al.

Abstract (provisional)
Background
Numerous genome-wide scans conducted by genotyping previously-ascertained single nucleotide polymorphisms (SNPs) have provided candidate signatures of positive selection in various regions of the human genome, including in genes involved in pigmentation traits. However, it is unclear how well the signatures discovered by such haplotype-based test statistics can be reproduced in tests based on full resequence data. Four genes, OCA2, TYRP1, DCT and KITLG, implicated in human skin color variation, have shown evidence for positive selection in Europeans and East Asians in previous SNP-scan data. In the current study, we resequenced 4.7-6.7 kb of DNA from each of these genes in Africans, Europeans, East Asians and South Asians.

Results
Applying all commonly-used allele frequency distribution neutrality test statistics to the newly generated sequence data provided conflicting results in respect of evidence for positive selection. Previous haplotype-based findings could not be clearly confirmed. The application of Markov Chain Monte Carlo Approximate Bayesian Computation to these sequence data using a simple forward simulator revealed broad posterior distributions of the selective parameters for all four genes providing no support for positive selection. However, when we applied this approach to published sequence data on SLC45A2, another human pigmentation candidate gene, we could readily confirm evidence for positive selection as previously detected with sequence-based and some haplotype-based tests.

Conclusions
Overall, our data indicate that even genes that are strong biological candidates for positive selection and show reproducible signatures of positive selection in SNP scans do not always show the same replicability of selection signals in other tests, which should be considered in future studies on detecting positive selection in genetic data.

Link

March 17, 2010

Abstracts from AAPA 2010

Some abstracts from the upcoming (April 14-17) meeting of the American Association of Physical Anthropologists.

Why are pygmies small? An anthropometrical and anthropogenetical question
NOEMIE BECKER et al.
Pygmy populations from central Africa have the shortest stature worldwide. The name “pygmy” indeed comes from the Greek “pugmaios” that is a measure of length. This reduced stature has been the subject of numerous endocrinological studies and many evolutionary hypotheses have suggested that this phenotype was an adaptation to the rainforest (hot, humid and dense environment), to alimentation or due to life history trade-offs (high mortality). We have anthropometrical data for a sample of more than 1000 individuals from 7 pygmy populations and 3 neighbouring farmer populations from Gabon, Cameroon and Central African Republic. DNA samples are also available for a large number of individuals. The analysis of anthropometrical data shows that all pygmy groups have a male mean stature under 160 cm (this was used in the definition settled by Cavalli-Sforza in1986) and that a high variability exists between various pygmy populations. Verdu et al. (2009) published a genetic analysis based on neutral microsatellites on the same populations and found that pygmies present a variable admixture proportion with nonpygmies. Comparing this data with our anthropometrical data at the individual level we find a strong correlation between level of admixture and stature, thus strongly supporting the existence of a genetic component in pygmy short stature. We developed a candidate-gene approach to search for such genetic factor and will present current results on various genes located in the GH-IGF1 axis.
New evidence on headshaping from the Early Byzantine Maroneia in Thrace, Greece.
PARASKEVI TRITSAROLI

The first case of headshaping from Early Byzantine Greece was identified in 2006 at the cemetery of Maroneia (5th-6th c. A.D.). Biocultural evidence suggested the presence of a female individual culturally linked to Hunic traditions. This paper analyzes the second case of headshaping on a female skeleton uncovered in 2009 and allows for the wider discussion of the presence of a larger group related to the Huns in the city of Maroneia. The skull was examined by combining macroscopic observation and x-ray. Points of pressure are recorded in the frontal, post-coronal and occipital regions resulting in an undulation of diploic bone. Possible bilateral pressure on the frontal bone has produced an artificially narrowed frontal. The skull extends posterosuperiorly. These features suggest the application of bandaging producing circular modification. Both headshaped skulls exhibit the same type of modification. Similarly, both women were buried in a supine position, without offerings, just like the remaining 36 deceased individuals in the cemetery of Maroneia. Headshaping was unknown among Byzantine customs. On the contrary, the Huns who attacked the Balkans twice and who unsuccessfully threatened Maroneia in 411 practiced a pronounced form of circular headshaping. Consequently, biocultural evidence strongly supports the hypothesis that a group linked to the Huns was installed at the city and was assimilated into this Early Byzantine society. Future biogeochemical analysis needs to be undertaken in order to investigate migration patterns. However, headshaping reflects the cosmopolitan character of Maroneia, an important urban center in a province of the Byzantine Empire.


The genetic legacy of indigenous Caribbean peoples: Evidence from autosomal and mitochondrial data.
JADA BENN TORRES et al.

Archeological evidence suggests that autochthonous peoples began to migrate into the eastern island chain in the Caribbean, known as the Lesser Antilles, as early as 7200 years BP. Upon the arrival of Europeans, an estimated 2-4 million people lived on these islands. Within 32 years of contact, the native populations had virtually disappeared from the region due to European-introduced disease, abuse, and genocide. This lead many scholars to conclude that indigenous Caribbean people had become extinct. However, small pockets of indigenous communities have survived and are present today on several Lesser Antillean islands. Furthermore, ethnohistoric data suggests that gene flow occurred between autochthonous peoples and enslaved Africans beginning in the colonial period. In this study, we examine the genetic legacy of autochthonous Caribbean peoples from the Lesser Antilles in contemporary African- Caribbean populations as evidenced from mitochondrial data and novel autosomal data. A total of 516 individuals from eight Caribbean islands were typed for 109 ancestry informative markers and a subset of individuals were also typed for their mitochondrial haplogroup. Mitochondrial haplogroups indicate that 5% of the sample has indigenous ancestry while admixture estimates from autosomal markers show 4% indigenous ancestry. Both lines of data suggest that despite the dramatic postcontact decline in population size, indigenous Caribbean people have made notable genetic contributions to contemporary African-Caribbean populations. Furthermore, these genetic contributions vary according to the genetic system typed and across the islands.
Chuvash origins: Evidence frommtDNA Markers.
ORION M. GRAF et al.

A sample of 96 unrelated individuals from Chuvashia, Russia was sequenced for hypervariable region-I (HVR-I) of the mtDNA molecule. The Chuvash speak a Turkic language that is not mutually intelligible to other extant Turkish groups, and their genetics are distinct from Turkic-speaking Altaic groups. Some scholars have suggested that they are remnants of the Golden Horde, while others have advocated that they are the products of admixture between Turkic and Finno-Ugric speakers who came into contact during the 13th century. Earlier genetic research using autosomal DNA markers suggested a Finno-Ugric origin for the Chuvash. This study examines non-recombining DNA markers to better elucidate their origins. The majority of individuals in this sample exhibit haplogroups H (31%), U (22%), and K (11%), all representative of western and northern Europeans, but absent in Altaic or Mongolian populations. Multidimensional scaling (MDS) was used to examine distances between the Chuvash and 8 reference populations compiled from the literature. Mismatch analysis showed a unimodal distribution. Along with neutrality tests (Tajima’s D (-1.43365) p less than 0.05, Fu’s FS (-25.50518) p less than 0.001), the mismatch distribution is suggestive of an expanding population. These tests suggest that the Chuvash are not related to the Altai and Mongolia along their maternal line but supports the “Elite” hypothesis that their language was imposed by a conquering group-- leaving Chuvash mtDNA largely of Eurasian origin with a small amount of Central Asian gene flow. Their maternal markers appear to most closely resemble Finno-Ugric speakers rather than fellow Turkic speakers.
Population history and substructure of Anatolia and Turkey as evidenced by craniofacial diversity.
NORIKO SEGUCHI et al.

Anatolia, the Asian segment of Turkey, is an area of evolutionary importance for human groups who used this corridor as a bridge for migration between the Caucasus, Western Asia and Europe since Lower Paleolithic times. Historically, Anatolia has been occupied by diverse civilizations, including the Byzantine and Ottoman Empires. This study is an attempt to understand Turkish population substructure and history by examining craniofacial diversity through several temporal periods framed within a population genetic model. If the region of Anatolia has been used as a migratory corridor for peoples spanning disparate geographic areas (Balkans, Central Asia, and East Asia), then gradual craniofacial change is expected due to these migrations coupled with extensive admixture. Studies using mtDNA indicate a pre-Neolithic expansion resulting in extensive migration, while Y chromosome studies reveal haplogroup clustering and gene flow from the Caucus with less admixture from Central and East Asia. Overall, our results indicate minimal Turkish population substructure. When crania were separated into sex, our results are consistent with uniparental marker population history. Female crania show a distinctness with modern groups and are actually more similar to Neolithic European and Near Eastern populations. This would indicate a relatively stable female population in Anatolia since Neolithic times. Male crania are more heterogeneous and cluster within a larger geographic zone of Eurasia and the Near East consistent with greater male migration. There is little support for admixture from Central or East Asian groups. These results support the hypothesis for a Turkic language displacement with insignificant genetic exchange.
Genetic analyses reveal a history of serial founder effects, admixture between longseparated founding populations in Oceania, and interbreeding with archaic humans.
SARAH JOYCE, KEITH HUNLEY

Genetic anthropologists continue to debate whether human neutral genetic variation primarily reflects a continuum of demes connected by local gene flow or colonization and serial founder effects. A second unresolved issue concerns the genetic contribution of archaic species to the modern human gene pool. Some studies suggest that this contribution was substantial and that it played an important role in human adaptation. These issues remain unresolved because of inadequacies and biases in datasets, problems in statistical methodology, and the failure to recognize that different evolutionary processes may produce similar outcomes. This study redresses these limitations by analyzing gene identity within and between populations in a dataset comprised of 614 STRs assayed in 1,983 people from 99 widespread populations. Our strategy is to fit hierarchical models to these data and examine residual deviations from the models. Each model involves nesting smaller units such as populations into larger units such as continental regions. It is possible to restate many of these models as either expansions or reductions of each other and thereby identify aspects of population structure that have had a major impact on the overall pattern of diversity. The strong fit of a model estimated using the Neighbor Joining algorithm indicates that human genetic diversity primarily reflects a history of successive founder effects associated with our exodus from Africa, not a continuum of demes connected by gene flow. Residual deviations from the model suggest: 1) the genomes of Oceanic peoples are the product of two independent waves of migration to the region and admixture, and 2) genetic exchange occurred between archaic and modern humans after their initial divergence.
Correlations between genetic ancestry and superficial traits indicate substantial admixture stratification in Brazil.
LAUREL N. PEARSON et al.

Brazil is one of the most admixed countries in the world. How this admixture affected the distribution of genetic ancestry across Brazilian ethnic (“Color”) groups is a fundamental question which to date has only received minimal attention. In an effort to systematically study variation in genetic ancestry in Brazil, we collected DNA and various phenotypic measures from 596 volunteers in Brasilia, Brazil. Participants were asked to provide their self-described “Color” as defined by the Brazilian census (Preta/Black, Parda/Brown, Branca/White, Indigena/Indigenous, Amarela/Yellow). Phenotype data was collected from each subject including hair texture, highresolution eye photographs, skin and hair color by reflectometry, and three-dimensional facial photographs. To estimate genomic ancestry, DNA from each participant was genotyped using 176 ancestry informative markers (AIMs), autosomal SNPs with large frequency differences between parental populations known to contribute to Brazilian admixture (West African, East Asian, European and Indigenous American). Although genomic ancestry shows significant overlap across “Color” groups, there are highly significant differences in average proportional ancestry. Additionally, analyses comparing trait values and genetic ancestry show significant correlations consistent with expectations of populations stratified with respect to genetic ancestry. Ethnographic research indicates that designations of “Color” are fluid and largely based on physical traits as opposed to known ancestry. This likely contributes to the observed ancestry overlap between ethnic groups and the strong association between phenotype and group. This study emphasizes the importance of genetic marker based estimates of ancestry as well as objective assessment of superficial traits in understanding the admixture process.
Geographic structure of genetic variation in North America: Population fissions and European admixture.
KARI BRITT SCHROEDER et al.

A satisfactory understanding of how modern Native North America populations are biologically related to each other requires increased sampling of populations and/or genetic markers and testing of the fit of different models of population structure. To this end, we combine new autosomal microsatellite data from Native North American populations with previously published data. Using J.C. Long’s Generalized Hierarchical Modeling software, we evaluate the fit of different trees to the data. Although we observe a correlation between population pairwise genetic and geographic distances, as expected with a long-term process of isolation by distance, we show that this correlation likely results from geographically-structured population fissions. This pattern could result from the initial peopling of North America or from a later process. The magnitude of European ancestry in the sampled populations, as estimated with the software structure, varies drastically among geographic regions, and may limit our ability to use modern genetic variation to investigate Native North American prehistory.This study was funded by the Wenner-Gren Foundation for Anthropological Research, grant number 7580 to K.B. Schroeder and D.G. Smith, and by the National Science Foundation, grant BCS- 0422144 to R.S. Malhi, B.M. Kemp, and D.G. Smith.
Coalescent modeling of Yakut origins points to small founding population based on mtDNA variation.
MARK ZLOJUTRO et al.

Based on archaeological and ethnohistorical evidence, the Yakut people of northeastern Siberia are considered to be descendants of ancient Turkic-speaking populations once living in the distant Altai- Sayan region on the Russian- Mongolian border. The results of phylogeographic studies on Siberian mtDNA variation have been generally concordant with a southern Yakut origin, although the timing of the northern migration, the size of the founder group and the degree of genetic admixture with non-Turkic Siberian populations are less apparent. In an effort to better understand Yakut origins, we modeled 25 demographic scenarios, including parameters such as effective population size, growth rate and gene flow, and tested by coalescent simulation whether any are consistent with the patterns of mtDNA diversity observed in present-day Yakuts. The models consist of either two simulated demes that represent Yakuts and a South Siberian ancestral population, or three demes that also include a regional Northeast Siberian population that served as a source of localized gene flow into the Yakut deme. The model that produced the best fit to the observed data defined a founder group with an effective female population size of only 150 individuals, migrating northwards approximately 1,000 years BP and undergoing significant admixture with neighboring populations in Northeastern Siberia. These simulation results indicate a pronounced founder effect that was primarily kin-structured and reconcile reported discrepancies between Yakut mtDNA and Y chromosome diversity levels.
The role of selection-nominated candidate genes in determining Indigenous American skin pigmentation.
ELLEN E QUILLEN et al.
World-wide variability in skin pigmentation has been a subject of anthropological inquiry from the beginning of our discipline. Recent genomic studies indicate that skin pigmentation is one of the most rapidly evolving phenotypes in many human populations and that genes underlying skin pigmentation have been subject to some of the most extreme selective pressures of any genes in the human genome. Unlike previous research, this study both identifies pigmentation genes that have undergone selection in Indigenous American populations and tests the influences of these genes on skin color in admixed individuals. 906,600 single nucleotide polymorphisms (SNPs) were surveyed for signatures of selection in indigenous populations from Central and South America. Evidence of selection was identified by comparison to HapMap Phase I populations using reduction in heterozygosity (lnRH), Locus- Specific Branch Length (LSBL), Tajima’s D, and haplotype block structure. In the 12 pigmentation candidate genes that show the strongest evidence of selection (ADAM17, POMC, AP3B1, OPRM1, SILV, OCA2/HERC, PLDN, MYO5A, RAB27A, CYP1A2, ATRN, and ASIP), 48 SNPs selected to represent the overall variation in the selection nominated candidate genes were genotyped in individuals of admixed Indigenous American and European ancestry. These SNPs show substantial allele frequency differences between the parental populations. Using admixture based regression model analyses, genes contributing to darker skin pigmentation in Indigenous Americans were found. This study not only identified skin pigmentation genes contributing to skin color variation in previously understudied Indigenous American populations, it validated the usefulness of using population genetic tests of selection to identify functional genes. This study was generously funded by the National Science Foundation Dissertation Improvement Grant 0925976

May 12, 2009

Light-pigmented Caucasoids from prehistoric Siberia

This sample was previously tested for Y-chromosome and mtDNA polymorphisms.

The pigmentation-related loci tested can be seen in the labels of my post, which should lead you to some earlier studies on them.

Most individuals were found to be most similar to European than to East Asian or African individuals based on these loci, although some (2 from Andronovo) of them were more similar to East Asians or intermediate (1 from Tagar) between East Asians and Europeans.

Interestingly, 1 of the Andronovo Mongoloids (S07) was previously found to belong to Y chromosome haplogroup C(xC3), while the Caucasoid-Mongoloid individual from Tagar (S32) belonged to haplogroup R1a1.

It should be noted that the use of the term "European individual ancestry" does not mean that these individuals were from Europe, as no test to distinguish between European and Asian Caucasoids was performed, and we know from literary descriptions and occasional archaeological remains about the ancient presence of light-pigmented Caucasoids in Siberia.

From the paper:
The genotype for rs12913832 was obtained for 23 out of the 25 samples, and most had the G/G genotype (n=15), which indicates that at least 60% of ancient specimens were probably blue- or green-eyed individuals. The remaining samples had the A/G (n=5) or A/A (n=3) genotypes, which are predictive of brown eye color phenotype.

International Journal of Legal Medicine doi:10.1007/s00414-009-0348-5

Pigment phenotype and biogeographical ancestry from ancient skeletal remains: inferences from multiplexed autosomal SNP analysis

Caroline Bouakaze et al.

Abstract

In the present study, a multiplexed genotyping assay for ten single nucleotide polymorphisms (SNPs) located within six pigmentation candidate genes was developed on modern biological samples and applied to DNA retrieved from 25 archeological human remains from southern central Siberia dating from the Bronze and Iron Ages. SNP genotyping was successful for the majority of ancient samples and revealed that most probably had typical European pigment features, i.e., blue or green eye color, light hair color and skin type, and were likely of European individual ancestry. To our knowledge, this study reports for the first time the multiplexed typing of autosomal SNPs on aged and degraded DNA. By providing valuable information on pigment traits of an individual and allowing individual biogeographical ancestry estimation, autosomal SNP typing can improve ancient DNA studies and aid human identification in some forensic casework situations when used to complement conventional molecular markers.

Link

February 05, 2009

Interaction between loci affecting human pigmentation in Poland

Annals of Human Genetics doi:10.1111/j.1469-1809.2009.00504.x

Interactions Between HERC2, OCA2 and MC1R May Influence Human Pigmentation Phenotype

Wojciech Branicki et al.

Abstract

Human pigmentation is a polygenic trait which may be shaped by different kinds of gene–gene interactions. Recent studies have revealed that interactive effects between HERC2 and OCA2 may be responsible for blue eye colour determination in humans. Here we performed a population association study, examining important polymorphisms within the HERC2 and OCA2 genes. Furthermore, pooling these results with genotyping data for MC1R, ASIP and SLC45A2 obtained for the same population sample we also analysed potential genetic interactions affecting variation in eye, hair and skin colour. Our results confirmed the association of HERC2 rs12913832 with eye colour and showed that this SNP is also significantly associated with skin and hair colouration. It is also concluded that OCA2 rs1800407 is independently associated with eye colour. Finally, using various approaches we were able to show that there is an interaction between MC1R and HERC2 in determination of skin and hair colour in the studied population sample.

Link

September 27, 2008

More ASHG 2008 abstracts

The previous batch is here.

Analysis of East Asia Genetic Substructure: Population Differentiation and PCA Clusters Correlate with Geographic Distribution
Accounting for genetic substructure within European populations has been important in reducing type 1 errors in genetic studies of complex disease. As efforts to understand complex genetic disease are expanded to other continental populations an understanding of genetic substructure within these continents will be useful in design and execution of association tests. In this study, population differentiation(Fst) and Principal Components Analyses(PCA) are examined using >200K genotypes from multiple populations of East Asian ancestry(total 298 subjects). The population groups included those from the Human Genome Diversity Panel[Cambodian(CAMB), Yi, Daur, Mongolian(MGL), Lahu, Dai, Hezhen, Miaozu, Naxi, Oroqen, She, Tu, Tujia, Naxi, and Xibo], HapMap(CHB and JPT), and East Asian or East Asian American subjects of Vietnamese(VIET), Korean(KOR), Filipino(FIL) and Chinese ancestry. Paired Fst(Wei and Cockerham) showed close relationships between CHB and several large East Asian population groups(CHB/KOR, 0.0019; CHB/JPT, 00651; CHB/VIET, 0.0065) with larger separation with FIL(CHB/FIL, 0.014). Low levels of differentiation were also observed between DAI and VIET(0.0045) and between VIET and CAMB(0.0062). Similarly, small Fsts were observed among different presumed Han Chinese populations originating in different regions of mainland of China and Taiwan. For example, the four For PCA, the first two PCs showed a pattern of relationships that closely followed the geographic distribution of the different East Asian populations.corner groups were JPT, FIL, CAMB and MGL with the CHB forming the center group, and KOR was between CHB and JPT. Other small ethnic groups were also in rough geographic correlation with their putative origins. These studies have also enabled the selection of a subset of East Asian substructure ancestry informative markers(EASTASAIMS) that may be useful for future genetic association studies in reducing type 1 errors and in identifying homogeneous groups.

Worldwide Population Structure using SNP Microarray Genotyping
We genotyped 348 individuals sampled from 24 populations world-wide using the Affymetrix 250k NspI microarray chip. For context, we added matching genotypes from 210 HapMap individuals for a total of 250,823 loci genotyped in 543 individuals from 28 populations. We included populations from India and Daghestan to provide detail between the genetic poles of Western Europe, East Asia, and sub-Sahara Africa. With so many markers, principal components analyses reveal genetic differentiation between almost all identified populations in our sample. Northern and southern European populations (FST = 0.004, p <0.01) are statistically distinguishable, as are upper and lower caste groups in India (FST = 0.005, p <0.01). All individuals are accurately classified into continental groups, and even between closely-related populations, genetic- and self-classifications conflict for only a minority of individuals (e.g. ~2% between upper and lower Indian castes; k-means clustering.) As expected, the HapMap CHB+JPT, CEU, and YRI samples are most similar to our east Asian, west European, and African samples, respectively. The HapMap CEU samples and our northern European ancestry samples were both collected from Utah. Although individual samples cannot be reliably classified into their collection of origin, the groups are statistically distinguishable despite their high similarity (FST = 0.0005, n.s.). Our Japanese group is also statistically distinguishable from the HapMap JPT group (FST = 0.006, p <0.01), and in this comparison, most samples can be correctly classified. With such large numbers of genotypes, significant differences can be found even between very similar population samplings. Our results provide guidelines for researchers in selecting suitable control populations for case-control studies.


Frequency distribution and selection in 4 pigmentation genes in Europe
Pigmentation is one of the more obvious forms of variation in humans, particularly in Europeans where one sees more within group variation in hair and eye pigmentation than in the rest of the world. We studied 4 genes (SLC24A5, SLC45A2, OCA2 and MC1R) that are believed to contribute to the pigment phenotypes in Europeans. SLC24A5 has a single functional variant that leads to lighter skin pigmentation. Data on 83 populations worldwide (including 55 from our lab) show the variant (at rs1426654) has almost reached fixation in Europe, Southwest Asia, and North Africa, has moderate to high frequencies (.2-.9) throughout Central Asia, and has frequencies of .1-.3 in East and South Africa. The variant is essentially absent elsewhere. SLC45A2 also has a single functional variant (at rs16891982) associated with light skin pigmentation in Europe. Data on 84 populations worldwide show the light skin allele is nearly fixed in Northern Europe but has lower frequencies in Southern Europe, the Middle East and Northern Africa. In Central Asia the frequency of the SLC45A2 variant declines more quickly than the SLC24A5 variant. It is absent in both East and South Africa. In OCA2 we typed 4 SNPs (rs4778138, rs4778241, rs7495174, rs12913832) with a haplotype associated with blue eyes in Europeans. This haplotype shows a Southeastern to Northwestern pattern in Europe with frequencies of .25 (.05 homozygous) in the Adygei to .85 (.75 homozygous) in the Danes. In MC1R we typed 5 SNPs (rs3212345, rs3212357, rs3212363, C_25958294_10, rs7191944) that cover the entire MC1R gene and found a predominantly European haplotype that ranges in frequency from .35 to .65 in Europe, reaching its highest levels in Southwest Asia and Northwestern Europe. Extended Haplotype Heterozygosity (EHH) and normalized Haplosimilarity (nHS) show evidence of selection at SLC24A5 in not only our European and Southwest Asian populations but also our East African populations. Neither SLC45A2 or OCA2 showed evidence of selection in either test. MC1R did not show evidence of selection for our European specific haplotype but we did see some evidence both upstream and downstream in our nHS test in Europe.

Using principal components analysis to identify candidate genes for natural selection.
Genetic markers that differentiate populations are excellent candidates for natural selection due to local adaptation, and may shed light into physiological pathways that underlie disorders with varying frequencies around the world. Principal Components Analysis (PCA) has emerged as a powerful tool for the characterization and analysis of the structure of genomewide datasets. In prior work, we described an algorithm that can be used to select small subsets of genetic markers (SNPs) that correlate well with population structure, as captured by PCA. Our method can be used to detect SNPs that differentiate individuals from different geographic regions, or even neighboring subpopulations. We set out to explore the nature and properties of the genes where population-differentiating SNPs reside, by analyzing the publicly available Human Genome Diversity Panel dataset (650,000 SNPs for 1,043 individuals, 51 populations). Applying our SNP selection algorithms, we chose small subsets of SNPs that almost perfectly reproduce worldwide population structure as identified by PCA. We determined SNP panels both for population differentiation within seven geographic regions, as well as around the globe. We then explored the hypothesis that the selected SNPs attained their current worldwide allele frequency patterns as a response to the pressure of natural selection. Comparing our lists to recently published reports, we found a significant overlap with other genomewide scans for selection, thus validating our hypothesis. For example, EDAR (involved in the development of hair follicles) harbors the most differentiating SNPs in our world-wide panels. SNPs located in genes that are involved in skin and eye pigmentation (OCA2, MYO5C, HERC1, HERC2) are also among the top population differentiating markers. In East Asia, SNPs residing at the ADH cluster appear among the most important SNPs for population structure, while, in Europe, the same is true for genes that are involved in immune response to pathogens (CR1, DUOX2, TLR, and HLA). Finally, a comprehensive gene ontology analysis is presented.

May 19, 2008

New alleles for hair and skin pigmentation

Gnxp points me to this new paper on hair and skin color pigmentation alleles.

PLoS Genet 4(5): e1000074. doi:10.1371/journal.pgen.1000074

A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation

Jiali Han et al.

Abstract

We conducted a multi-stage genome-wide association study of natural hair color in more than 10,000 men and women of European ancestry from the United States and Australia. An initial analysis of 528,173 single nucleotide polymorphisms (SNPs) genotyped on 2,287 women identified IRF4 and SLC24A4 as loci highly associated with hair color, along with three other regions encompassing known pigmentation genes. We confirmed these associations in 7,028 individuals from three additional studies. Across these four studies, SLC24A4 rs12896399 and IRF4 rs12203592 showed strong associations with hair color, with p = 6.0×10−62 and p = 7.46×10−127, respectively. The IRF4 SNP was also associated with skin color (p = 6.2×10−14), eye color (p = 6.1×10−13), and skin tanning response to sunlight (p = 3.9×10−89). A multivariable analysis pooling data from the initial GWAS and an additional 1,440 individuals suggested that the association between rs12203592 and hair color was independent of rs1540771, a SNP between the IRF4 and EXOC2 genes previously found to be associated with hair color. After adjustment for rs12203592, the association between rs1540771 and hair color was not significant (p = 0.52). One variant in the MATP gene was associated with hair color. A variant in the HERC2 gene upstream of the OCA2 gene showed the strongest and independent association with hair color compared with other SNPs in this region, including three previously reported SNPs. The signals detected in a region around the MC1R gene were explained by MC1R red hair color alleles. Our results suggest that the IRF4 and SLC24A4 loci are associated with human hair color and skin pigmentation.

Link

January 28, 2008

Human eye color news


From the first paper, the frequency of HERC2 rs916977 superimposed on an iris color map (sadly taken from a 1965 reference):


The American Journal of Human Genetics,
doi:10.1016/j.ajhg.2007.10.003

Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene

Manfred Kayser et al.

Abstract

Human iris color was one of the first traits for which Mendelian segregation was established. To date, the genetics of iris color is still not fully understood and is of interest, particularly in view of forensic applications. In three independent genome-wide association (GWA) studies of a total of 1406 persons and a genome-wide linkage study of 1292 relatives, all from the Netherlands, we found that the 15q13.1 region is the predominant region involved in human iris color. There were no other regions showing consistent genome-wide evidence for association and linkage to iris color. Single nucleotide polymorphisms (SNPs) in the HERC2 gene and, to a lesser extent, in the neighboring OCA2 gene were independently associated to iris color variation. OCA2 has been implicated in iris color previously. A replication study within two populations confirmed that the HERC2 gene is a new and significant determinant of human iris color variation, in addition to OCA2. Furthermore, HERC2 rs916977 showed a clinal allele distribution across 23 European populations, which was significantly correlated to iris color variation. We suggest that genetic variants regulating expression of the OCA2 gene exist in the HERC2 gene or, alternatively, within the 11.7 kb of sequence between OCA2 and HERC2, and that most iris color variation in Europeans is explained by those two genes. Testing markers in the HERC2-OCA2 region may be useful in forensic applications to predict eye color phenotypes of unknown persons of European genetic origin.

Link

The American Journal of Human Genetics,
doi:10.1016/j.ajhg.2007.11.005

A Single SNP in an Evolutionary Conserved Region within Intron 86 of the HERC2 Gene Determines Human Blue-Brown Eye Color

Richard A. Sturm et al.

Abstract

We have previously demonstrated that haplotypes of three single nucleotide polymorphisms (SNPs) within the first intron of the OCA2 gene are extremely strongly associated with variation in human eye color. In the present work, we describe additional fine association mapping of eye color SNPs in the intergenic region upstream of OCA2 and within the neighboring HERC2 (hect domain and RLD2) gene. We screened an additional 92 SNPs in 300–3000 European individuals and found that a single SNP in intron 86 of HERC2, rs12913832, predicted eye color significantly better (ordinal logistic regression R2 = 0.68, association LOD = 444) than our previous best OCA2 haplotype. Comparison of sequence alignments of multiple species showed that this SNP lies in the center of a short highly conserved sequence and that the blue-eye-associated allele (frequency 78%) breaks up this conserved sequence, part of which forms a consensus binding site for the helicase-like transcription factor (HLTF). We were also able to demonstrate the OCA2 R419Q, rs1800407, coding SNP acts as a penetrance modifier of this new HERC2 SNP for eye color, and somewhat independently, of melanoma risk. We conclude that the conserved region around rs12913832 represents a regulatory region controlling constitutive expression of OCA2 and that the C allele at rs12913832 leads to decreased expression of OCA2, particularly within iris melanocytes, which we postulate to be the ultimate cause of blue eye color.

Link

January 18, 2007

Positive selection for human skin color

Annals of Human Genetics (OnlineEarly Articles)

Signatures of Positive Selection in Genes Associated with Human Skin Pigmentation as Revealed from Analyses of Single Nucleotide Polymorphisms

O. Lao et al.

Summary

Phenotypic variation between human populations in skin pigmentation correlates with latitude at the continental level. A large number of hypotheses involving genetic adaptation have been proposed to explain human variation in skin colour, but only limited genetic evidence for positive selection has been presented. To shed light on the evolutionary genetic history of human variation in skin colour we inspected 118 genes associated with skin pigmentation in the Perlegen dataset, studying single nucleotide polymorphisms (SNPs), and analyzed 55 genes in detail. We identified eight genes that are associated with the melanin pathway (SLC45A2, OCA2, TYRP1, DCT, KITLG, EGFR, DRD2 and PPARD) and presented significant differences in genetic variation between Europeans, Africans and Asians. In six of these genes we detected, by means of the EHH test, variability patterns that are compatible with the hypothesis of local positive selection in Europeans (OCA2, TYRP1 and KITLG) and in Asians (OCA2, DCT, KITLG, EGFR and DRD2), whereas signals were scarce in Africans (DCT, EGFR and DRD2). Furthermore, a statistically significant correlation between genotypic variation in four pigmentation candidate genes and phenotypic variation of skin colour in 51 worldwide human populations was revealed. Overall, our data also suggest that light skin colour is the derived state and is of independent origin in Europeans and Asians, whereas dark skin color seems of unique origin, reflecting the ancestral state in humans.

Link

December 31, 2006

Convergent skin color evolution in Caucasoids and Mongoloids

MBE Advance Access published online on December 20, 2006

Genetic Evidence for the Convergent Evolution of Light Skin in Europeans and East Asians

Heather L. Norton et al.

Human skin pigmentation shows a strong positive correlation with ultraviolet radiation (UVR) intensity, suggesting that variation in skin color is, at least partially, due to adaptation via natural selection. We investigated the evolution of pigmentation variation by testing for the presence of positive directional selection in six pigmentation genes using an empirical FST approach, through an examination of global diversity patterns of these genes in the CEPH-Diversity Panel, and by exploring signatures of selection in data from the International HapMap project. Additionally, we demonstrated a role for MATP in determining normal skin pigmentation variation using admixture mapping methods. Taken together (with the results of previous admixture mapping studies), these results point to the importance of several genes in shaping the pigmentation phenotype and a complex evolutionary history involving strong selection. Polymorphisms in two genes, ASIP and OCA2, may play a shared role in shaping light and dark pigmentation across the globe while SLC24A5, MATP, and TYR have a predominant role in the evolution of light skin in Europeans but not in East Asians. These findings support a case for the recent convergent evolution of a lighter pigmentation phenotype in Europeans and East Asians.

Link

November 17, 2006

Human eye color explained by a three-SNP haplotype

A very exciting new preprint in AJHG describes how a haplotype defined by three SNPs, i.e., single-letter changes in the genetic code, describes most variation in human eye color. I am sure that this paper will make the news once its edited version appears, but this is very exciting development for many different reasons.
  • First, it shows that a very striking observable difference among humans can be explained by minute differences in the genetic code. This should be a reminder to those who engage in grocery-style genetics. Quantity matters not.
  • Second, eye color is an important phenotypical character that people actually care about. Genetics becomes exciting when it's about stuff that people are interested in (intelligence, eye color, the chance of getting cancer before 40, etc.).
  • Third, we are finally getting to the point where genetics can be used to infer characteristics of organisms that are not preserved in bones. This will doubtlessly lead to applications in ancient DNA research (see also here).


American Journal of Human Genetics (preprint)

A three-SNP haplotype in the first intron of OCA2 explains most human eye color variation

David L. Duffy, Grant W. Montgomery, Wei Chen, Zhen Zhen Zhao, Lien Le, Michael R. James, Nicholas K. Hayward, Nicholas G. Martin, Richard A. Sturm

Abstract

We have previously shown that a QTL linked to the OCA2 region of 15q accounts for 74% of variation in human eye color. We conducted additional genotyping to clarify the role of the OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin cancer risk in white populations. Fifty eight synonymous and non-synonymous exonic SNPs and tagging SNPs were typed in a collection of 3839 adolescent twins, their sibs, and parents. The highest association for blue:non-blue eye color was found with three OCA2 SNPs; rs7495174 T/C, rs6497268 G/T and rs11855019 T/C (P-values of 1.02x10-61, 1.57x10-96, and 4.45x10-54 respectively) in intron 1. These three SNPs are in one major haplotype block with TGT representing 78.4% of alleles. The TGT/TGT diplotype found in 62.2% of samples was the major genotype seen to modify eye color, with a frequency of 0.905 in blue or green compared with only 0.095 in brown eye color. This genotype was also at highest frequency in subjects with light brown hair and was more frequent in fair and medium skin types, consistent with the TGT haplotype acting as a recessive modifier of lighter pigmentary phenotypes. Homozygotes for rs11855019 C/C were predominantly without freckles and had decreased mole counts. The minor population impact of the nonsynonymous coding region polymorphisms Arg305Trp and Arg419Gln associated with non-blue eyes, and the tight linkage of the major TGT haplotype within the first intron of OCA2 with blue eye color and lighter hair and skin tones, suggest that differences within the 5’ proximal regulatory control region of OCA2 gene alter expression or mRNA transcript levels and may be responsible for these associations.

Link

March 07, 2006

Recent positive selection in humans

Yet another study on positive selection in modern humans; you can find many many more by searching for "recent selection" or "positive selection" via the site search on the right sidebar.

The findings are reported in PLoS Biology (free text). Nicholas Wade also covers the study in the New York Times:
Providing the strongest evidence yet that humans are still evolving, researchers have detected some 700 regions of the human genome where genes appear to have been reshaped by natural selection, a principal force of evolution, within the last 5,000 to 15,000 years.

The genes that show this evolutionary change include some responsible for the senses of taste and smell, digestion, bone structure, skin color and brain function.

Many of these instances of selection may reflect the pressures that came to bear as people abandoned their hunting and gathering way of life for settlement and agriculture, a transition well under way in Europe and East Asia some 5,000 years ago.
From the new paper:
A fully rigorous estimation of the ages of the candidate sweeps is difficult with the current data. However, making the simplistic assumption of a star-shaped genealogy for the favored haplotypes and assuming a generation time of 25 y, suggests average ages of ≍6,600 years and ≍10,800 years in the non-African, and African populations, respectively (Materials and Methods).

...

Some of the strongest signals of recent selection appear in various types of genes related to morphology. For example, four genes involved in skin pigmentation show clear evidence of selection in Europeans (OCA2, MYO5A, DTNBP1, TYRP1). All four genes are associated with Mendelian disorders that cause lighter pigmentation or albinism, and all are in different genomic locations, indicating the action of separate selective events. One of these genes, OCA2, is associated with the third longest haplotype on a high frequency SNP anywhere in the genome for Europeans. A fifth gene, SLC24A5, has recently been shown by another group to impact skin pigmentation and to have a derived, selected allele near fixation in Europeans [45]. Though iHS has reduced power for alleles near fixation, SNPs near this gene also show strong iHS signals in Europeans (Table S2).

Various genes involved in skeletal development have also been targets of recent selection. Three related proteins involved in bone morphogenesis show signals of selection in Europeans (BMP3 and BMPR2) and in East Asians (BMP5). In addition, GDF5, a gene in which mutations cause skeletal malformations, shows strong signals of selection in both Europeans and East Asians. Other morphological features also appear to be targets of selection, including hair formation and patterning in Yoruba (the keratin cluster near 17q12; and FZD6).

An important type of selective pressure that has confronted modern humans is the transition to novel food sources with the advent of agriculture and the colonization of new habitats [19,21]. As noted above, we see a strong signal of selection in the alcohol dehydrogenase (ADH) cluster in East Asians, including the third longest haplotype around a high frequency allele in East Asians. A variety of genes involved in carbohydrate metabolism have evidence for recent selection, including genes involved in metabolizing mannose (MAN2A1 in Yoruba and East Asians), sucrose (SI in East Asians), and lactose (LCT in Europeans). Processing of dietary fatty acids is another system with signals of strong selection, including uptake (SLC27A4 and PPARD in Europeans), oxidation (SLC25A20 in East Asians) and regulation (NCOA1 in Yoruba and LEPR in East Asians). The latter gene (LEPR) is the leptin receptor and plays an important role in regulating adipose tissue mass.

Recent articles have proposed that genes involved in brain development and function may have been important targets of selection in recent human evolution [8,9]. While we do not find evidence for selection in the two genes reported in those studies (MCPH1 and ASPM), we do find signals in two other microcephaly genes, namely, CDK5RAP2 in Yoruba, and CENPJ in Europeans and East Asians [46]. Though there is not an overall enrichment for neurological genes in our gene ontology analysis, several other important brain genes also have signals of selection, including the primary inhibitory neurotransmitter GABRA4, an Alzheimer's susceptibility gene PSEN1, and SYT1 in Yoruba; the serotonin transporter SLC6A4 in Europeans and East Asians; and the dystrophin binding gene SNTG1 in all populations.

PLoS Biology Volume 4 | Issue 3 | MARCH 2006

A Map of Recent Positive Selection in the Human Genome

Benjamin F. Voight1, Sridhar Kudaravalli1, Xiaoquan Wen1, Jonathan K. Pritchard1*

The identification of signals of very recent positive selection provides information about the adaptation of modern humans to local conditions. We report here on a genome-wide scan for signals of very recent positive selection in favor of variants that have not yet reached fixation. We describe a new analytical method for scanning single nucleotide polymorphism (SNP) data for signals of recent selection, and apply this to data from the International HapMap Project. In all three continental groups we find widespread signals of recent positive selection. Most signals are region-specific, though a significant excess are shared across groups. Contrary to some earlier low resolution studies that suggested a paucity of recent selection in sub-Saharan Africans, we find that by some measures our strongest signals of selection are from the Yoruba population. Finally, since these signals indicate the existence of genetic variants that have substantially different fitnesses, they must indicate loci that are the source of significant phenotypic variation. Though the relevant phenotypes are generally not known, such loci should be of particular interest in mapping studies of complex traits. For this purpose we have developed a set of SNPs that can be used to tag the strongest ∼250 signals of recent selection in each population.

Link

April 17, 2005

Abstracts from 74th Meeting of AAPA

They can be found here. Some interesting abstracts that caught my attention.

  • Inter- and intraspecific variation in Pan tooth crown morphology: implications for Neandertal taxonomy. [Nenaderthals are distinct from Europeans and a separate species]
  • Longevity in the Middle Paleolithic: Did modern humans live longer than Neandertals? [Increased longevity was not associated with anatomically modern humans but with the Upper Paleolithic]
  • Sequence data from the autosomes and X chromosome: Evidence for ancient admixture in the history of H. sapiens? [East Asians have 2million BP polymorphism]
  • MtDNA variation in North, East, and Central African populations gives clues to a possible back-migration from the Middle East. [M1 sharply differentiates North and East Africans from Sub-Saharans and may have originated outside Africa]
  • Rejection of isolation by distance for human gene geography and suggested alternatives. [Human genetic diversity is structured and is not well-described by isolation by distance]
  • Population structure in sub-Saharan Africans based on mitochondrial, Y chromosomal and X chromosomal DNA sequences. [Genetic diversity in Africa is explained by the fact that African populations were widely scattered and experienced gene flow between them]
  • Using measures of locus-specific differentiation to find genes underlying traits subject to recent genetic adaptation: a test case using skin pigmentation. [Europeans and Asians are light due to selection on different genes]
  • Demographic and selective history of African populations inferred from genome wide genetic markers. [Large multi-locus study finds significant substructure in Africa]
  • The distribution of ancestral alleles among populations. [The fact that Africans have more ancestral alleles than other humans does not mean that humanity originated in Africa]
  • History of modern human population structure inferred from the worldwide survey on Xp11.22 sequences. [1.1 million year old ancestry in North Africa and the Middle East]
  • Demographic history of African populations inferred from mtDNA analysis. [Mankind originated in Tanzania, and Khoisan speakers originated in East Africa]

Midfacial variation in recent human, Zhoukoudian Upper Cave, and Paleoindian crania.

J.C.M. Ahern et al.

This study tests the hypothesis that the midfaces of select Late Pleistocene Asians and Paleoindians cannot be distinguished from recent Amerindians. Recent interpretations of Paleoindian remains have highlighted their variability and affinities to a variety of living non-Amerindian human populations. Although midfacial anatomy has been touched upon in some of these analyses, metric treatment of upper and lower midfacial anatomy has not been thoroughly examined. Given that midfacial anatomy is useful for determining population affinities among recent people, it may also prove effective at assessing past prehistoric population affinities.
Measurements of the upper and lower midface were collected on samples of three extant human populations: Amerindians (n=46), African Americans (n=58), and Euroamericans (n=62). Measurements were also collected on casts of the three crania from Zhoukoudian Upper Cave and the Spirit Cave and Wizards Beach Paleoindian specimens. The Upper Cave crania were chosen since they may represent a population ancestral to the first people to colonize the Americas. Spirit Cave and Wizards Beach were chosen since their differences epitomize the degree of variation and contrasting population affinities of North American Paleoindians. Using discriminant function analysis, Spirit Cave fell in the area of overlap between Amerindians and African Americans, while the other fossil crania had a higher probability Amerindian classification. Unlike some previous analyses, none of the fossil crania showed affinities with Europeans. Our results further indicate that the pattern of relationships and variation among Late Pleistocene Asians and Paleoindians was complex.

Inter- and intraspecific variation in Pan tooth crown morphology: implications for Neandertal taxonomy.


S.E. Bailey

Measures of divergence based on dental morphology are known to reflect biological distance in contemporary modern humans. Previous studies of Neandertal tooth crown morphology have shown that they possess a pattern of trait frequencies that differs significantly from that of contemporary and fossil anatomically modern humans. However, there is no taxonomic ‘yard stick’ against which to interpret the degree of dental divergence observed. The goal of this study was to test whether the dental morphological differences between Neandertals and anatomically modern humans were typical of subspecific (Pan troglodytes troglodytes:Pan troglodytes schweinfurthi) or closely related specific (Pan troglodytes:Pan paniscus) taxa. Eighteen dental crown traits were used to assess inter- and intraspecific variation. A Mean Measure of Divergence statistic was used to calculate morphological distance. The hominin sample included 33 Neandertals, 7 early modern humans, 19 Upper Paleolithic Europeans, and 179 contemporary humans from seven geographic regions. The Pan sample included 37 P.t. troglodytes, 44 P.t. schweinfurthi and 33 P. paniscus specimens. Measures of divergence based on pair-wise comparisons of Neandertals and anatomically modern humans were found to be higher than those derived from both subspecific and specific pair-wise comparisons of Pan. Moreover, Neandertals show no morphological affinity to either Upper Paleolithic or contemporary Europeans and are more than twice as divergent from all contemporary human samples as these samples are from each other. In as much as Pan represents an appropriate model for interpreting dental morphological divergence in Homo, these results are broadly supportive of the specific status of Neandertals.

Natural selection in the Tibet Autonomous Region.

C.M. Beall et al.

Indigenous high-altitude populations have been exposed to the opportunity for natural selection. The ability detect natural has been hampered because the genetic bases of the quantitative traits that appear to be adaptive are often unknown. However, Tibetan populations have a major gene for oxygen saturation of hemoglobin. One allele at the inferred locus is associated with 6-10% higher levels and less hypoxemia. We reported that Tibetan women residing at 4000m altitude with a high likelihood of having one or two alleles for high oxygen saturation had more living children because fewer of their live births died during infancy. Those findings suggested that high-altitude hypoxia is acting as an agent of natural selection on the locus for oxygen saturation of hemoglobin. Here, we consider the implications for understanding the evolution of adaptations to the environment. The relative fitness of the low saturation genotype as compared with the two high saturation genotypes was 0.44 based on the ratio of the number of living children. This relative fitness was lower than reported for comparisons of Hb AA and AS genotypes in malarial areas (0.66 – 0.88). Hypoxic stress differs qualitatively from malaria stress: hypoxia is constant whereas malaria parasitemia level fluctuates. Thus, the selective advantage of the high saturation allele is probably constant whereas the selective advantage of an antimalarial genotype may be intermittent. Large fitness differences among genotypes indicate the potential for rapid change in allele frequency. Human genetic adaptation may be rapid and may depend upon the nature of the environmental stress.

MtDNA diversity in six West Indian Islands throughout the Anglophone Caribbean.

J. Benn Torres et al.

The Caribbean is an example of a convergence of people and cultures from several continents. Few researchers have investigated how this phenomenon affected immigrants and their subsequent communities, even fewer have attempted to examine this convergence using anthropological genetics. In this analysis, mtDNA hypervariable region I (HVI) and haplogroup diagnostic RFLPs are examined in 318 individuals from six Afro-Caribbean communities in Dominica, St. Lucia, St. Kitts, St. Vincent, Grenada, and Trinidad. Genetic diversity and maternal genetic contributions to contemporary Caribbean populations are examined and comparisons are made between these data and those published from other African and African-derived populations.

All samples were collected from buccal swabs, extracted, and amplified using standard methods. The HVI was sequenced and 14 RFLPs were typed to determine the haplogroup. The Caribbean sequence summary statistics (pi, theta, gene diversity, average number of nucleotide differences, and Tajima’s D) are all similar to each other and similar to published African data. MtDNA haplogroup L is detected in 93% of the total sample, while the remaining 7% consists of haplogroups A, C, F, J, N1c, U6, and U7. The presence of non-L types is indicative of non- Sub-Saharan African female gene flow into these communities and for the most part, is likely due to recent immigration. Different ethnic groups make up the African Diaspora, such as African-Americans, West Indians/Afro-Caribbeans, and Afro-Latinos, this study examines the origins of a little studied group within this Diaspora.

Searching for signatures of natural selection in high altitude populations.

A.W. Bigham et al.

Hypoxia, caused by lowered barometric pressure at high altitude (defined as >2500 m above sea level), results in severe physiological stress to the human body. Although the suite of human physiological responses to this environmental condition has been well documented, the genetic bases for these adaptations remain unknown. To search for genes possibly involved in adaptation to high altitude, we used FST and other measures of allele frequency differentiation. Local natural selection especially positive selection can lead to elevated allele frequency differences measured as high FST and locus specific branch length (LSBL). Although demographic factors as well as genetic drift can also affect differences between populations, identifying high LSBL and high FST on genome-wide SNP datasets can be a powerful tool to rank candidate genes. Next, by comparing a high altitude, Indigenous American population (Quechua) to a low altitude, Indigenous American population (Nahua) using these statistics, a list of 451 SNPs (threshold FST >0.20) and 636 genes within 40kb region of those markers was generated. Based on this dataset, candidate genes that may have undergone natural selection in the Quechua population were revealed. Among these are nitric oxide synthase 2A (NOS2A) and endothelin 1 (Edn1).

Body orientations, sleep positions, and breast feeding behavior amongst solitary and co-sleeping (bedsharing) human mother-infant pairs: mutual physiological regulatory effects.


T. Brown et al.

Since the “back-to-sleep” campaign initiated in 1992, the rate per 1000 live births of American infants dying from SIDS has been reduced by half. This NIH funded research provides a basis for further appreciating how the mother’s body and responses in addition to the infant sleeping on its back can create an adaptive “micro-environment” for the human infant, and how both the mother and infant, by virtue of their sensory interactions, changes each other’s physiological status. 15 routinely solitary sleeping breastfeeding infants and their mothers and 23 routinely bed sharing breastfeeding mother-baby pairs sleeping apart and together over three consecutive nights were filmed using infrared cameras. Data collected on body orientation, sleep position, crying, breastfeeding, and maternal responses, as mothers and infants shift between bedsharing and separate room sleeping reveal changes in maternal-infant interactions involving partner-induced arousal patterns and overall sleep duration. Breastfeeding doubled when mother and their infants slept together, and infants cried significantly less. Decreased infant crying may be related to the shortened temporal latencies between when the infant aroused and when their bedsharing mothers responded. This makes problematic a 1999 recommendation by the American Consumer Product Safety Commission, to “never sleep with a baby.”

Ethnic and biological identity in New Kingdom Nubia.

M.R. Buzon

The populations of Nubia and Egypt have had a long history of interaction. While past studies have often focused on the unidirectional changed forced on Nubia by Egypt, more recent paradigms emphasizing the dynamic and bidirectional nature of these power relations are more appropriate for this situation. The events that occurred around the time of the Egyptian New Kingdom occupation of Nubia are significant. It is during this time that the foundations of the Nubian Napatan Kingdom, which ruled Egypt as the 25th Dynasty, were being built. Scholars disagree about who controlled Nubia during this important time: Egyptian colonists or native leaders. In this paper, these issues are addressed using a bioarchaeological approach.

The people buried using Egyptian and Nubian ritual at the New Kingdom site of Tombos, located at the third cataract of the Nile in Nubia, are the focus of this research (N=100). In addition, 1,287 individuals from contemporaneous Egyptian and Nubian sites are examined in order to comparatively assess the Tombos population. Multivariate statistical analyses of cranial measurements and cranial non-metric traits are used to evaluate the genetic relationships between Tombos and these comparative populations. The analyses of genetic affinities suggest that the cranial morphology of the Tombos population is more heterogeneous than that of the Egyptian populations. This heterogeneity, however, is also characteristic of the native Nubian populations. Combined with the mixed ethnicity portrayed through archaeological indications of burial ritual, it is apparent that Tombos was comprised of an ethnically and biologically mixed group of people.

Artificial cranial deformation in the prehistoric lower Mississippi river valley.

S.N. Byers

A study was performed on the cranial deformation found among prehistoric individuals from Louisiana. The type, degree, and characteristics of the deformation are presented. In addition, hypotheses are tested concerning the association between presence or degree of cranial deformation and social/biological groups: warriors vs. non-warriors, elites vs. commoners, priests vs. commoners, male vs. female, and all members of society. Testing protocols are generated for each hypothesis and the fit between the data and the protocols tested. The results of these tests indicate that cranial deformation is not more common in some groups than in all members of society, indicating that the practice was not limited to groups such as warriors, elite, priests, or even only one of the sexes. The major finding is that this cultural practice appeared to increase in frequency through time from the oldest to the youngest site.

A reassessment of human cranial metric and nonmetric trait heritabilities.

E.A. Carson

Quantitative genetics models of human populations often rely on trait heritability rates to represent the genetic variability of phenotype. The heritability ‘gold standard’ was established 20 years ago by Sjøvold (1984) and Devor (1987), whose estimates of genetic inheritance for craniometric and, in Sjøvold’s case, cranial nonmetric traits are universally used and often averaged to obtain an overall heritability rate for population genetics models. Each of these studies, however, is problematic. The heritabilities reported by Sjøvold were calculated using linear regression, a technique which makes assumptions regarding the variance matrices and parental-offspring environmental correlation that are not valid for humans. In addition, measures typically included in anthropological studies such as nasal breadth, maximum cranial length and breadth, were not assessed in Sjøvold’s study. While Devor (1987) did report heritabilities for these established cranial dimensions, his data were collected on living humans; the use of soft tissue measurements as a proxy for skeletal dimensions has since been called into question.

The current study addresses each of these problems by utilizing maximum likelihood variance component analysis to calculate heritability estimates from a sample of 200 parental-offspring pairs of crania from the Hallstatt, Austria ossuary, the same skeletal population assessed by Sjøvold. Metric data were collected on 58 standard cranial landmarks using a Microscribe 3-D digitizer that allow for the calculation of 36 linear cranial measurements commonly used by physical anthropologists (Howells, 1989). This poster presents updated heritability estimates for these measures, as well as for 36 standard cranial non-metric traits.

Longevity in the Middle Paleolithic: Did modern humans live longer than Neandertals?

R. Caspari

Increased longevity, expressed as the number of individuals surviving to older adulthood, represents one of the ways that Upper Paleolithic Europeans differ from earlier European populations. It remains unclear whether this increase in adult survivorship is an attribute of the Upper Paleolithic itself, or whether it occurred in earlier anatomically modern humans migrating into Europe from elsewhere. In this paper we address this issue by comparing anatomically modern humans associated with the Middle Paleolithic of Western Asia to their Upper Paleolithic counterparts.

We examined differences in longevity by assessing the ratio of older to younger adults (OY ratios) in two earlier penecontemporary dental samples, both associated with the Middle Paleolithic: Neandertals and fossils considered anatomically modern Homo sapiens from Western Asia. Younger and older adult status was assessed by M3 eruption and wear seriation of each sample: M3 eruption indicated adulthood, and older adulthood was defined as the age at which individuals could first potentially become a grandparent (double the age of M3 eruption). Significance of the difference in ratios between the groups was tested using distributions generated by random resampling with replacement. Our results do not reject the null hypothesis of no difference between the two Middle Paleolithic populations. We conclude that the dramatic increase in adult survivorship was not a hallmark of the earliest modern humans, but instead occurred more recently coinciding with the Upper Paleolithic. Whether or not modern humans and Neandertals were conspecifics, this suggests that the increase in adult survivorship associated with the Upper Paleolithic was not directly linked to speciation.

The truth is out there: how NOT to use FORDISC.

D. Freid

FORDISC is an interactive computer program designed to classify an unknown adult cranium based on the reference samples in its database. FORDISC uses discriminant functions to construct a classification matrix and assign group membership of the unknown cranium into one of the selected reference groups. The researcher guides the analysis by choosing the populations against which to classify the unknown, choosing from eleven population samples from the Forensic Anthropology Data Bank or twenty-eight population samples from Howells’ (1989) worldwide database. The utility and efficacy of FORDISC has been criticized for providing ‘incorrect’ classifications, however these disputed results are often due to inappropriate reference samples and failure to properly evaluate the typicality and posterior probabilities provided by the program. In this paper, unknown crania from populations known not to belong to any of the reference samples will be analyzed, demonstrating the interpretation of posterior and typicality probabilities provided in the FORDISC output and the importance of the use of an appropriate reference sample.

An application of ancient DNA analysis to an early Byzantine monastic community.

A.M. French et al.

The degree of contact among ancient populations and the extent of human historical movement have long been topics of interest and debate. While archaeological, linguistic, and textual evidence provide much information on historical patterns of migration, the record is often incomplete. A combination of biological and historical data and the introduction of methods such as ancient DNA analysis provide a more complete picture of historical migration patterns. Populations from the early Byzantine period (5th – 7th c. C.E.), when cultural and probably biological interaction among peoples of different geographic regions was common, are especially appropriate for such an analysis. An examination of genetic material from adult and subadult remains at St. Stephen’s, a Byzantine monastery in Jerusalem, has proven particularly useful in revealing some patterns of migration during the Byzantine period.

In this study, levels of genetic heterogeneity of mitochondrial DNA both within and between the subadult and adult populations at St. Stephen’s are examined to determine the likelihood that the individuals were members of the same genetic population. As many of the subadults are too young to be pilgrims they are, most likely, representative of the local region. Additionally, the sequences from the St. Stephen’s collection are compared with genetic data from worldwide populations in order to determine the most likely place(s) of origin for members of the St. Stephen’s assemblage. The genetic data, in conjunction with textual and archaeological evidence, illuminates some patterns of population movement during the Early Byzantine era into Jerusalem, especially those associated with ecclesiastical institutions.

A measure of biological distance in Nubians: a look at intrapopulation variation.

K. Godde. California State University, Sacramento.

Biological distance studies typically measure the genetic distance between populations. However, little has been done to assess the distance within specific populations. This study looked at six subpopulations of Nubians separated geographically and/or temporally to determine if variability within populations was statistically significant. In order to measure this, twenty nonmetric traits were observed on a total of 319 skulls, representing three temporally distinct periods from Semna South, including the Meroitic, X-Group, and Christian eras. Tsuneko Hanihara provided data on 180 additional crania (personal communication) from three other Nubian subpopulations that were spatially and temporally distinct from the other groups. These data were from the sites of Kerma (12th –13th dynasty), Sesebi (recent population), and the islands of Hesa and Biga (pre-Christian). All six subpopulations were compared to one another using Mean Measure of Divergence (MMD), its variance, standard deviation and the standardized MMD. The results of the statistical analysis showed that there was little variability between most of the samples. However, the MMD results of the Meroitics and Hesa and Biga were only .01 away from being statistically significant at the .05 level. Additionally, the difference between Kerma and the Meroitics was statistically significant at the .05 level. These samples were not separated by the greatest amount of geographic or temporal distance, and thus these explanations cannot completely account for the difference. In light of this study, further analysis should address whether it is necessary to separate highly variable subpopulations when attempting to measure biological distance on a global scale.

Variation in the juvenile craniofacial form: a pilot study.

R.A. Gonzalez

Much research has been conducted in the area of age determination of juvenile skeletal remains for biological profiling purposes within a medico-legal context. However, the ability to determine sex and group affiliation from juvenile skeletons is limited and often unreliable (Kerley, 1976). In fact, identifying sex and group specific differences with any degree of reliability is one of the major problems in the analysis of juvenile skeletal remains (Scheuer and Black, 2000).

This pilot study presents initial findings of human variation as expressed in the juvenile craniofacial form. A sample of 28 groups divided according to age, sex, and group affiliation was studied utilizing 22 common cephalometric measurements of American children of African and European descent. A glm manova procedure and principal component analysis served to test for the presence of sex and group specific features in the juvenile craniofacial skeleton throughout development.

The findings of this initial investigation demonstrate a statistically meaningful sex and group specific pattern of size and shape differences throughout development. Additionally, this study suggests that for each age group category utilized in the analysis, ages 6-12, it is possible to clearly identify the sex and group affiliation of juvenile skeletal remains for forensic biological profiling purposes. If the preliminary results are correct, then this investigation provides evidence of morphological differences that can be accurately identified throughout craniofacial development. These findings provide the basis for future research in which this investigator will use to develop biological profiling standards for juvenile skeletal remains.

Sequence data from the autosomes and X chromosome: Evidence for ancient admixture in the history of H. sapiens?

M.F. Hammer et al.

A longstanding question in anthropology asks whether the history of our species is characterized by an expansion from an isolated panmictic population with complete replacement of archaic forms, or by admixture among divergent allotaxa. While mtDNA data support a recent and complete replacement model, nuclear loci present a more complicated picture. Two major problems associated with interpreting the heterogeneous patterns of variation observed at multiple nuclear loci are that sampling procedures vary across studies, and experimental designs generally lack statistical power to detect archaic admixture. We are undertaking a systematic survey of DNA sequence variation at 90 unlinked nuclear loci and developing a statistical framework (to be presented by Jeff Wall) to explicitly test the hypothesis of no admixture between modern and archaic forms, and for estimating the admixture ratio (if the null hypothesis is rejected). Our approach involves sequencing three windows of ~2 kb spanning ~16 kb at each locus in a panel of 90 individuals from 6 populations. Preliminary data from two loci that show evidence of ancient admixture will be discussed. A gene tree constructed from sequence data at the first locus roots in East Asia and has a most recent common ancestor ~2 million YBP. The pattern of nucleotide variation at the second locus reveals two major lineages that have not undergone recombination for over 2 million years, and statistically rejects the null hypothesis of panmixia during the early ancestry of modern humans.

MtDNA variation in North, East, and Central African populations gives clues to a possible back-migration from the Middle East.


A.D. Holden et al.

The general timeline for human occupation of Africa has been studied extensively. However, questions involving Upper Palaeolithic migrations still persist. One remaining question is the presence of the mitochondrial M1 haplogroup in North and East Africa. Some (Quintana-Murci et al. 2004, 1999) argue that the presence of M1 in modern Africans is a remnant of the original M haplogroup that left Africa 60 kya via the Horn of Africa. Others (Forster, 2004) propose that it is instead the result of a back-migration from the Arabian Peninsula from 20 kya. This research aims to test these two competing hypotheses.

We analysed mtDNA variation in ~250 persons from Libya, Somalia, and Congo/Zambia, as representatives of the three regions of interest. Our initial results indicate a sharp cline in M1 frequencies that generally does not extend into sub-Saharan Africa. While our North and especially East African samples contained frequencies of M1 over 20%, our sub-Saharan samples consisted almost entirely of the L1 or L2 haplogroups only. In addition, there existed a significant amount of homogeneity within the M1 haplogroup.

This sharp cline indicates a history of little admixture between these regions. This could imply a more recent ancestry for M1 in Africa, as older lineages are more diverse and widespread by nature, and may be an indication of a back-migration into Africa from the Middle East. Further research on this topic includes more extensive population samples from the Middle East, as well as possible correlations of M1 to the Afro-Asiatic language family.

Rejection of isolation by distance for human gene geography and suggested alternatives.


K. Hunley et al.

Isolation by distance population structure is tested for the worldwide pattern of human genetic diversity using a large short tandem repeat (STR) data set (Cann et al., 2002, Science, 298: 261-2). A subset of 27 populations, chosen on the basis sample size, was analyzed. Each individual was represented by 377 autosomal short tandem repeat (STR) genotypes. Malecot’s genetic kinship was calculated between population pairs. Scatterplots and regression methods were applied analyze the relationship between genetic kinship and geographic distance.

All African/non-African population pairs show about the same degree of genetic kinship, regardless of geographic distance. European/non-European comparisons show two strata of genetic kinship. The first stratum presents European/African pairs, while the second stratum contains European/Asian and European/Native American pairs. There is no trend for genetic kinship to decrease with increasing geographic distance. Finally, comparisons between Asian with non-Asian samples reveal three strata, the first stratum includes Asian/African pairs, the second stratum includes Asian/European pairs, and the third stratum includes Asian/Native American pairs. The pattern is remarkable. Rather than isolation by distance, it reflects a pattern of nested subsets. Non-Africans possess a subset of the variation in Africans; Asians and Native Americans possess a subset of the variation in Non-Africans; and Native Americans possess a subset of the variation in Asians. The nested subset pattern of genetic diversity is consistent with a model that postulates a succession of ancient founder events that occurred as the human species expanded its range and occupied new continents.

The relationship between a quantitative measure of facial harmony and subjective measures of facial attractiveness.

P.L. Jamison et al.

The craniofacial variability index (CVI) summarizes the variation in Z-scores across a set of sixteen common craniofacial measurements and can be used as a measure of facial harmony. Previously we have shown that high values of this summary statistic correlate strongly with individuals known to have congenital craniofacial syndromes. In the present study we hypothesized that low values of this measure correlate with attractive or harmonious faces. The CVI was calculated for 205 adult females who had previously been ranked for attractiveness using a panel of male and female judges. The judges used a seven point Likert scale to rate each subject from above average in appearance to below average in appearance. Mean ranking scores for each subject were then used to create three groups, above average (n-34), average (n=145), and below average (n=21). ANOVA demonstrated significant differences in CVI scores of the three groups and Bonferroni post hoc tests revealed that the subjects in the “above average” group had significantly lower CVI scores than the subjects in the other two groups. Mean CVI did not differ significantly between the average and below average groups. These results indicate that the CVI is an effective measure of facial harmony and suggest that it may be a useful tool in testing some of the hypotheses that have been put forward regarding physical attractiveness and reproductive fitness.

Environmental variability, life history tactics, and the Neanderthal extinction.

J.H. Jones

In this paper, I use the demographic theory for structured populations in variable environments to shed light on the demise of the Neanderthals. Humans are – and probably most hominins were – characterized by highly structured life cycles. That is, age-specific schedules of reproductive investment are far from constant across the life cycle. In the presence of environmental variability, this structure induces correlations in vital rates across environments that can fundamentally alter optimal life history tactics. I present stochastic models of human population dynamics in a variety of stochastic environments showing that, in general, increased variability favors (1) delayed age at maturity and (2) long reproductive span. Recent histological analyses of Neanderthal teeth suggest their age at maturity was significantly earlier than that of anatomically modern humans. I show that under a reasonable range of demographic schedules, this early age at maturity would have increased the probability of extinction of Neanderthal populations under the right environmental conditions. Drawing upon Pleistocene temperature proxy data from the Greenland Ice Core Project, I show that high-frequency fluctuations increased significantly in the period more or less coincident with the disappearance of Neanderthals, consistent with this hypothesis. These results suggest the possibility that Neanderthal extinction was driven by intrinsic features of their biology and not through competition with anatomically modern humans.

Population expansions in South Indian caste and tribal populations: inferences from genetic data.


L.B. Jorde et al.

The origins and affinities of Hindu caste populations remain poorly understood. To investigate the relationships between Hindu caste populations, Indian tribal populations, and other populations, we have genotyped 45 short tandem repeat polymorphisms (STRPs) in 151 members of tribal populations and 437 members of caste populations from South India. These same STRPs have also been assayed in 142 Africans, 117 Europeans, and 61 East Asians. STRP heterozygosity was quite similar among all caste populations, with an average of 69%. The average heterozygosity among tribal groups was somewhat lower (66%), and it varied considerably among populations, with a range of 54% to 74%. The Fst value for the caste populations was relatively small (0.9), but the Fst value for the tribal populations (4.8%) was slightly higher than for our collection of sub-Saharan African populations (3.7%). Genetic distance analyses show that the caste and tribal populations occupy a position intermediate between E. Asian and European populations, as expected. In marked contrast to the caste populations, several of the tribal populations (Yanadi, Kattuniaken, Paniyan, and Chenchu) are extreme outliers on a neighbor-joining tree. These results are all highly similar using either STRPs or Alu insertion polymorphisms, and they are consistent with a much higher rate of genetic drift in the tribal populations than in caste populations. The matrix coalescent approach was applied to these data to estimate population growth parameters in caste vs. tribal populations, and these results will be discussed.

Mitochondrial DNA variation among populations of Mesoamerica and the American Southwest: Does Uto-Aztecan represent a biological unit?

B.M. Kemp et al.

Anthropologists have long noted the archaeological, cultural, and linguistic parallels between indigenous populations residing in Mesoamerica and the American Southwest. The most notable ties are the northward spread of agriculture from central Mexico into the Southwest and the presence of Uto-Aztecan speaking populations in both regions. Thus, it has been suggested that proto-Uto-Aztecan speakers were responsible for the spread of agriculture, possibly taking the form of a northward human migration. If true, Uto-Aztecan speakers from both areas should be more genetically related than they are to non-Uto-Aztecan speaking populations, regardless of geographic location.

This hypothesis was evaluated by assigning the mtDNA of over 900 individuals from fourteen extant populations (Uto-Aztecan and non-Uto-Aztecan from the Southwest and Mesoamerica) and one pre-Columbian population (Aztecs from Tlatelolco, Mexico) to one of the five Native American haplogroups: A, B, C, D, or X. These data exhibit a pattern of regional continuity and, therefore, substantial difference between regions. Additionally, the haplotypes (from the sequence of hypervariable regions I, II, and III) of over 700 of these individuals were identified. Analyses of these data demonstrate that very few maternal lineages are shared between populations and network analyses demonstrate that the majority of clades are geographic, not linguistic. The patterning of mtDNA variation suggests these regional genetic differences are of great antiquity and opposes an accompanying human migration with the spread of agriculture. We, however, point out alternative possibilities not covered by our investigation, but that are currently being tested by other colleagues.

Comparison of genetic and linguistic phylogenetic reconstructions as a means of investigating the evolution of the Semitic language family.

A. Kitchen et al.

Inference of the history of the Semitic language family has long been controversial. In order to address this problem, we have taken an interdisciplinary approach in which genetic and linguistic evolutionary relationships are compared through independent phylogenetic reconstructions of genetic and lexical data.

Our phylogenetic analyses of genetic data (mitochondrial control region DNA sequence from three Semitic-speaking populations) demonstrates that Ethiopic Semitic populations are basal relative to non-African Semitic-speakers. While greater antiquity of African populations relative to non-Africans is not surprising, genetic diversity has never been explicitly compared between African and non-African Semitic-speakers. This result suggests that if Ethiopian Semitic did originate in Arabia, it may have been introduced to Ethiopia in the absence of significant gene flow from a less diverse and evolutionary younger non-African population.

Concurrent analysis of lexical data (Bender’s modification of Swadesh’ 100-word lists for 15 Ethio-Semitic populations) using phylogenetic techniques borrowed from evolutionary systematics allows us to contrast population history, gene-flow and linguistic evolution within Semitic populations. Applying maximum parsimony and distance phylogenetic reconstruction methods to our lexical dataset, and comparing the resulting lexical and genetic phylogenies, we test alternative hypotheses of Ethio-Semitic language evolution. Our results largely support Bender's original classificatory scheme of Ethio-Semitic languages. Comparative analyses of genetic and linguistic phylogenetic reconstructions of Semitic-speaking populations should help resolve questions concerning the genetic and geographic origin of the language family.

Polygenotype-environment interaction and the Boas immigrant data.

L.W. Konigsberg et al.

The Boas immigrant dataset has recently seen a resurgence of interest, with a number of studies published using methods not available to Boas in the pre-computer era. These analyses have tended to take alternative views on the importance of polygenotypic effects as versus environmental plasticity. In this paper we re-analyze the Boas dataset with an eye to characterizing the effect of polygenotype-environment interaction on the cephalic index.

We use data on 13,732 individuals taken from Clarence Gravlee’s website (http://lance.qualquant.net/boas/data.htm). Treating the data as composed of many unrelated families and controlling for age at measurement and immigration status we estimate a narrow sense heritability for the cephalic index of about 0.74. This figure is an overestimate because it does not account for the different familial ancestries. Allowing for the original seven groups defined in Boas’s study, the within-group heritabilities are substantially lower with none reaching above 0.60. This analysis shows that we cannot ignore the existence of group-structure in the Boas data, for to do so causes cephalic index to look “more genetic” (because of increasing the genetic variation around a grand mean). Neither can we ignore the effect of the environment, for as Boas and subsequent studies (as well as this one) amply demonstrate, groups’ cephalic indexes are subject to differential responses following immigration to the United States. Consequently, the Boas data do not tell us whether cephalic index is about genes versus environment, but rather that the index is about genes and the environment.

Grandma’s right: A sleeping baby may be a growing baby.

M. Lampl

The irregularity of infant sleeping behavior is a significant biocultural issue, with much advice-seeking and offering with little scientific basis. This study aimed to investigate whether infant sleep patterns were a biobehavioral indicator of growth. Three independent statistical methods were used to test the hypothesis that the irregular increases and decreases in infant sleeping behaviors were related to episodic (saltatory) spurts in infant body length growth. Detailed daily diaries recorded the continuous patterns of sleep for twenty-four infants (15 females, 9 males) during the first year of life for durations of 4 to 12 months (n= 5660 daily records). Total daily hours of sleep and number of episodes were the variables studied. A pulse detection algorithm (CLUSTER) clarified that infant sleep irregularity consisted of sleeping peaks and troughs for all infants with an average of 4.7 more hours and/or 3 more naps per day for two days during peaks. These patterns were compared to previously identified growth spurts in body length by coincident analysis. Significant nonrandom copulsatility was identified between the two independently collected data sets (physical growth and sleep patterns) suggesting that daily sleeping behavior and growth in infant body length are a coupled biological process. Maximum likelihood logistic regression models quantified a 25% increased likelihood of a growth spurt for each hour the infants slept above their non-growth interval sleeping averages.

These data link behavioral state changes and the biological mechanisms underlying the timing and control of human growth spurts, adding growth biology to the enigmatic question of “why do we sleep?”

Changes in sexual dimorphism in Europeans in the last 30,000 years.

S.-H. Lee ET AL.

In Europe, sexual dimorphism decreased from the Upper Paleolithic through the Mesolithic followed by a slight increase from the Mesolithic to the Neolithic. In all, the level of sexual dimorphism typical of recent Europeans was reached by the end of the Neolithic. Earlier work (Frayer, 1980) documented these trends by plotting means in sexual dimorphism in dental, cranial and postcranial metrics for the three periods, attributing the reduction trend to greater gracilization in males from the Upper Paleolithic to the Mesolithic. The subsequent increase in sexual dimorphism was a result of stabilization of the male trend, coupled with a decrease in female metrics from the Mesolithic to the Neolithic.

The previous study was conducted by pooling data into three time periods and testing for differences across these divisions. In this study, the pattern of gracilization over time was examined by tracking male and female metrics separately through the entire time span. Here, we treat the time period as a continuous sample and use an updated data set to address two questions: 1) the pattern of change in sexual dimorphism; and 2) the contribution of changes in each sex over time to the observed pattern of variation. We apply a data re-sampling approach and ask if changes occurred gradually through the 30,000 year time span. Our results confirm earlier work, but deepen the understanding of the temporal patterning of trends of sexual dimorphism in post-Neandertal European populations.

Predictions of isolation by distance and alternatives for human gene geography.

J.C. Long et al.

Many human genetic examples of correlations between genetic and geographic distances are attributed to isolation by distance, meaning a population structure where the reproductive dispersal of individuals is restricted relative to the range of the entire population. Wright, Malecot, Kimura, and Slatkin have developed the rigorous genetic theory of isolation by distance. While each architect of the theory has developed a slightly different version, the common result is that at equilibrium there is a titration between genetic differentiation and the geographic distance between localities. Isolation by distance implies for the human data that genetic drift and local dispersal have shaped the genetic structure of our species.

Alternatively, other mechanisms such as a step-wise range expansion can create a correlation between genetic and geographic distance. In this circumstance, the correlation between genetic and geographic distance does not reflect local dispersal. Rather, it reproduces the migration paths and succession of founder events that occurred during the process of range expansion.

The purpose of this paper is to show how hierarchical F-statistics can distinguish between these two alternative population structures. Computer simulations are used to illustrate the approach and potential outcomes. We use these simulations to determine the number of genetic loci that must be assayed in order to reliably distinguish patterns of genetic divergence. In addition, we explore the effect of systematic sampling biases such as sampling clusters of widely dispersed populations on the outcome of analyses.

Analysis of mtDNA haplogroup monomorphism in a sample of a Native American population combining modern and ancient DNA research.


E. Marchani et al.

We observe a lack of mitochondrial haplogroup variation not only among modern Eastern Inuit, but also among their ancestors, the Thule. Both groups possess haplogroup A exclusively, in contrast to other Native American groups, who possess some combination of haplogroups A, B, C, D, and X.

This lack of variation might have been caused by genetic drift, given a recent history of small effective population size. This hypothesis seems plausible, given archaeological evidence that the Thule expanded rapidly across the far north approximately 1000 years ago from a relatively small founding population. Here, we ask what hypotheses about population history can be excluded on the basis of the observed absence of mitochondrial haplogroup variation.

We test hypotheses about population history using coalescent simulations. We are able to exclude hypotheses of a bottleneck in the distant past, while we are not able to reject hypotheses of a bottleneck within the recent past. Our results both describe and help to explain the demographic and biological processes that result in the unique phenomenon of mitochondrial haplogroup monomorphism.

Population structure in sub-Saharan Africans based on mitochondrial, Y chromosomal and X chromosomal DNA sequences.

M. Metni Pilkington et al.

Africans harbor the greatest genetic diversity, the deepest TMRCA estimates, and the largest effective population size of humans. Here we ask whether the large effective population size is associated with a highly structured population and how population structure compares across loci. We address these questions using DNA sequence data from the mitochondrial (mtDNA) COIII locus, anonymous sequences from the non-recombining portion of the Y chromosome (NRY), and two X chromosomal genes (PDHA1 and RRM2P4). A total of 13.8 kb of DNA sequence was examined in each of 160 individuals from five geographically diverse African populations: the Dinka of Sudan, the Dogon of Mali, the Bakola of Cameroon, and the Khoisan and southeast Bantu from southern Africa.

Estimates of subdivision based on mtDNA and the NRY reveal relatively high levels of population differentiation (FST = 0.284 and 0.236, respectively). Similar levels of population structure for these loci provides no evidence for sex-specific differences in migration rate among these populations. These FST values are only ~20-30% higher than we observe for the same loci sampled in six non-African populations (data not shown). FST values based on the two X chromosome loci (PDHA1 and RRM2P4) were lower (FST = 0.090 and 0.073), but not unexpected because of their 3-fold higher effective population size compared with the haploid loci. These results may be explained by a long period of ongoing gene flow among widely scattered African populations.

Quantitative analysis of modern human and fossil mandibles using 3-D geometric morphometrics.

E. Nicholson et al.

The study of the human mandible has been relatively neglected in comparison to the cranium. Mandibular morphology is often thought to reflect function and not to contain phylogenetic information. Previous descriptions show variation in ramal height and breadth to be the strongest difference among recent human groups. Populations also are thought to vary in corpus robusticity, obliqueness of the ramus, sigmoid notch depth, bicondylar breadth and mental foramen position. Several mandibular traits are believed to differentiate Neanderthals from modern humans: greater robusticity, a receding symphysis, a large retromolar space, a rounder gonial area, an asymmetric sigmoid notch and a posteriorly positioned mental foramen in Neanderthals.

This study quantitatively evaluated some of the proposed differences among modern human groups and between modern and fossil humans and explored these differences to test phylogenetic and functional hypotheses. 28 landmarks were digitized on 134 modern human mandibles from 10 geographic populations. 13 fossil specimens from Europe, the Near East and Africa were also measured. Data were collected with a Microscribe 3DX. A GPA was performed in Morpheus. The fitted coordinates were analyzed in SAS using PCA, CVA, Mahalanobis D2 and Discriminant Analysis. Shape differences were explored using Morphologika.

Modern human mandibular shape shows some geographic patterning. Australians, Polynesians and, to a lesser extent, the Arctic population, are most distinct. Most shape differences between fossil and modern groups, but not among modern humans, are related to differences in centroid size. Functional implications are explored.

Using measures of locus-specific differentiation to find genes underlying traits subject to recent genetic adaptation: a test case using skin pigmentation.

H. Norton et al.

A number of DNA sequence-based statistics are available to identify signatures of natural selection. However, sequencing large numbers of individuals across multiple genes can be costly and time consuming. An alternate method that uses allele frequency data has received less attention, but may be more efficient for large screening studies. This method is based on the idea that demographic events affect loci across the genome equally, while adaptation affects individual genes and nearby markers. We have applied the locus-specific pairwise FST (lspFST) to survey seven pigmentation candidate genes from six geographically diverse populations. Using the allele frequencies at these genes, we calculated the lspFST statistic and compared it to an empirical distribution based on 11,078 SNPs analyzed in the same populations. With this comparison we are able to take into consideration the demographic histories of the populations and calculate likelihoods of the data given neutral evolution. Several pigmentation candidate genes show evidence of non-neutral patterns of differentiation. Interestingly, population differentiation at pigmentation candidate SNPs was observed both for populations differing in pigmentation phenotype (ASIP and OCA2), as well as for populations similar in pigmentation phenotype (TYR). Additionally, SNPs in MATP show high levels of European-specific population differentiation. These results suggest a strong role for natural (and/or sexual) selection in shaping human pigmentation variation. Patterns of allele frequency and lspFST variation at TYR and MATP between Europeans and East Asians raise the possibility that natural selection may have acted on different alleles to produce a similar adaptive phenotype in these populations.

The effect of breastfeeding intensity on bone mineral density.

K. Pearce. University of Massachusetts, Amherst.

Breastfeeding women from Massachusetts (n=35) participated in a study measuring the effect of breastfeeding variation on BMD. Breastfeeding diaries and repeated measures of BMD (DEXA) were used to categorize breastfeeding intensity and changes in BMD throughout the postpartum period. Women entered the study between 2 weeks and 3 years postpartum. The central hypothesis tested was whether variation in breastfeeding intensity affected the rate of change in BMD during lactational amenorrhea (LA) and/or after menses resumed. Multilevel modeling was used to interpret the data. Repeated BMD measures were viewed as nested within individuals. Individuals were nested within groups based on breastfeeding intensity (low, medium-low, medium-high, or high), calcium intake (low or high), and familial history of osteoporosis (yes or no). Results show that BMD decreased during lactation and increased after menses resumed. High breastfeeding intensity had a greater effect on the increase of BMD after menses returned than it had on the loss of bone during LA. High intensity was associated with a .04 g/cm2 increase in BMD (t = 24.1, p=.000) for every three months of post-menses breastfeeding. The same level of breastfeeding intensity during LA was associated with a decrease of .01 g/cm2 BMD, also statistically significant (t = 4.3, p=.01). This study suggests that high intensity post-menses breastfeeding may be an important factor in attaining a net gain in BMD during lactation, with implications for osteoporosis studies of contemporary women and archaeological populations.


Demographic and selective history of African populations inferred from genome wide genetic markers.

F.A. Reed et al.

In collaboration with the Marshfield Medical Research Foundation, a large multi-locus dataset (>2,000,000 genotypes) has been generated from 1,070 microsatellite and in/del markers from ~2,000 individuals originating from >60 ethnically defined populations in Africa and in 100 African Americans. This resource has the potential to answer many questions about the history of humans both within Africa as well as history of the African diaspora into the Americas. These data have been compared to previously published analysis of the same markers in the CEPH diversity panel (Rosenberg et al., 2002). Here we present the results of our analysis of population structure within Africa and African population history. Initial results indicate considerable levels of substructure, even within small geographic regions. We are also able to infer and address several hypotheses regarding the origin of Pygmy populations in Africa, as well as the ancestry of Nilo-Saharan, Niger-Kordofanian, Afro-Asiatic, and Khoisan speaking populations. Additionally, we describe our current efforts at developing acceptance-rejection composite likelihood-approximations to estimate parameters of interest (of demography and selection) from these microsatellite data.

The distribution of ancestral alleles among populations.

A.R. Rogers et al.

The “ancestral allele” at a given locus is the allele thought to have been carried by the last common ancestor (LCA) of all humans. These are only estimates, of course, but they are often relatively good ones. Thus, it is interesting that human ancestral alleles are usually most common in Africa. Some claim that the ancestral allele should be most common in Africa, because it is the ancestral population. We argue otherwise. In the absence of selection or ascertainment bias, the expected frequency of the ancestral allele is the same in each modern population, regardless of the history of population size, subdivision, or gene flow. The observed tendency of ancestral alleles to cluster in Africa argues either for some form of ascertainment bias or for some form of selection.
We attribute the pattern to two forms of ascertainment bias, which affect different sorts of locus. These biases, together with a history of expansion out of Africa, are capable of producing the observed pattern. The only loci that are certainly free of bias are those that sequence arbitrary stretches of DNA far from known genes. In these bias-free systems, there is no tendency for ancestral alleles to be most common in Africa.

Early South Americans in craniofacial metric perspective: Lagoa Santa.

N. Seguchi et al.

We compare the craniofacial morphology of four Sumidouro skulls and one Lund skull, representing South American Paleoindians from Lagoa Santa, Brazil, with worldwide prehistoric and recent human craniofacial metric data. Relationships in these data are illustrated using the neighbor-joining method based on a Mahalanobis distance matrix, discriminant function analysis, canonical variate plots, and posterior and typicality probabilities. We also employed Relethford and Blangero’s R matrix method (Relethford and Blangero 1990, Relethford and Harpending 1994) on the same craniofacial metric data, and generated the neighbor-joining tree and principal coordinate plot. Using Howells’ worldwide comparative dataset, Walter Neves et.al. (2003) recently suggested that Brazilian Paleoamericans probably were closely related to Australian Aborigines and Africans as opposed to Native Americans and Northeast Asians. In contrast, our preliminary results show that Lagoa Santa individuals exhibit stronger morphological affinities with prehistoric Jomon of Japan, recent Patagonia/Tierra del Fuego of South America; present day Mexico, Peru, and Archaic Americans of Windover and Indian Knoll of North America, than with our Australian sample. Moreover, Jomon, Lagoa Santa and Archaic North Americans all present a relatively close relationship, and tie consistently to each other. This suggests that the early inhabitants of South America were probably not related to Australo-Melanesians, but rather the Late Pleistocene descendents of Northeast Asia, such as Jomon. Also, they are related to the Archaic North American populations and recent central, and South Americans.

History of modern human population structure inferred from the worldwide survey on Xp11.22 sequences.

M. K. Shimada et al.

For study of human evolution, using DNA sequence data, long lengths are required because of low mutation rates. However long sequences have a higher probability that recombination has occurred in the region in the evolutionary history. On the other hand, microsatellite data have a high mutation rate but tend to have too much homoplasy. The limitations of different types of data are one reason why different studies have different conclusions regarding human evolutionary history.

We sequenced a 10.1-kilobase pair region of the X chromosome, from 650 individuals from 50 populations. The sequenced region includes two microsatellites. The conjunction of sequence variation with tightly linked microsatellite variation allows each type of data to overcome the limitations of the other.

We found very little evidence of recombination within the region. Most sequences are quite similar to one another, however three sequences differed from the others at an average of 28.6 substitutions. Assuming a molecular clock, and a human/chimpanzee divergence time of 6 million years, the estimated age of the base of the human sequences is 1.1 million years ago, whereas the estimated base of the tree excluding these divergent human sequences is 290,000 years ago. These divergent sequences were found in samples from the Middle East (Druze and Bedouin populations) and North Africa (Mozabite population). The pattern is suggestive of admixture between non-African Archaic humans and Modern Humans.

Demographic history of African populations inferred from mtDNA analysis.

S.A. Tishkoff et al.

The continent of Africa is thought to be the homeland of all modern humans; it contains the largest amount of human genetic variation, both within and between populations, and the oldest genetic lineages. We have collected an unparalleled resource of genomic DNA samples from >4000 individuals originating from ethnically defined populations across Africa. At the same time, extensive pedigree, linguistic, ethnic, geographic and physiological data was also recorded for many of these individuals. Here we describe our analysis of mtDNA variation obtained from sequencing 1200bp of the control region and genotyping 6 coding-region SNPs mtDNA analysis of a subset of coding-region SNPs in 650 ethnically diverse Tanzanians and from sequencing 40 whole mtDNA genomes (~16,000 bp/genome). We have used coalescence based maximum likelihood simulations to estimate multiple demographic parameters including historic population size, bi-directional migration, time of population divergence, and time of most recent common ancestry of DNA lineages from these data. We observe recent gene flow between populations and phylogenetic analyses show that Tanzanian mtDNA lineages form the most basal branches of the global mitochondrial tree, suggesting that the range expansion of modern humans may have originated in East Africa. Additionally, we find common ancestry of the Hadza and Sandawe Khoisan (click)-speaking populations of Tanzania and that the Sandawe have had historical gene flow and/or common ancestry with southern African !Kung San, supporting the hypothesis that Khoisan speakers may have originated in East Africa.

On the origins of strong polygyny and socially imposed monogamy in humans.

C.P. van Schaik et al.

Because humans show pair-bonding, the environmental potential for despotism is reflected in social polgyny. We first show that increased despotism is expected under a general primate model of male-male coalitions, where the egalitarian system of mobile hunter-gatherers, maintained by large-scale leveling coalitions, is replaced by a despotic system with violent, revolutionary coalitionary takeovers of top ranks. Humans also differ from the other primates in that groups are spatially subdivided, which can produce cliques or class structure. Historically, however, some societies have shown a return to more egalitarian social relationships among males. We present a concession model, in which high-ranking males recruit support from lower-ranking males by granting them more reproductive success. A critical prediction is that transitions to social monogamy or dissolution of castes are found in societies under enemy occupation or involved in a desperate war.

In this paper we investigate the importance of predators in limiting primate populations by testing the following predictions using data taken from the primate literature. First, we predict that habituated primate populations experiencing reduced predation risk due to continuous human presence increase in numbers, at least during the initial years of human presence, whereas unhabituated populations do not. Second, we predict that population densities of primate species in otherwise similar forests in which carnivore predators have disappeared should be lower than those in forests with predators. The results allow us to estimate the relative magnitude of the effect of carnivore predators on primate populations. We discuss the implications of these results for primate population ecology and conservation biology.

A mesio-buccal mandibular molar trait in ancient populations of Ireland.

J.D. Weets

In this poster, previously unpublished variation of a human dental trait in permanent mandibular molars is described. The character, presently labeled IMMP (the Irish Mandibular Molar Pit), is situated anterior to the position occupied by the protostylid on the buccal aspect of cusp 1, and is most commonly found on third molars. IMMP occurred in 32.6% of 126 lower right third molars and 28.3% of 131 lower left third molars from archaeological specimens dating to the Neolithic (c. 4000-1800 BC) through the Early Christian era (c. AD 400-1170) in Ireland. The character was tested for variation in its geographic and temporal distribution across the island. No significant differences were found in its occurrence between time periods, nor between regions of Ireland. But, a lack of significant variation between the island’s ancient populations in other dental traits has been noted by the author in further research. Interestingly, an individual Viking specimen from Ireland exhibited IMMP. Personal correspondence with another dental anthropologist suggests the trait is present, at a much lower rate of expression, in East Asian populations (approximately 1-2% of his sample). These two findings indicate a widespread geographic occurrence that prompts more investigation of IMMP in other populations. Furthermore, marked difference of expression between populations from Ireland and East Asia suggest the trait will distinguish, at the very least, distant geographical populations and may make IMMP a useful addition to the suite of morphological traits utilized by dental anthropologists in biodistancing studies.

Mitochondrial DNA Variation in Northern Altaians: affinities with Siberian and Turkic populations.

S.I. Zhadanov et al.

Altaian peoples are the descendants of ancient (non-Turkic) inhabitants of this mountainous area who mixed with various waves of Turkic speaking nomads, beginning about 2,000 years ago. They are divided into northern and southern groups that are known to be physically, culturally and linguistically distinctive. Morphologically, the Southern Altai-kizhi generally exhibit stronger affinities with Mongolian and East Asian groups, whereas Northern Altaians, including Tubalars, Chelkans and Kumandinians, show some affinities with West Eurasian and Uralic groups. Initial genetic studies involving Altai-kizhi tribes have also revealed them to have considerable genetic diversity with influences from both West and East Eurasian populations. However, Northern Altaian groups as a whole are less well genetically characterized. To clarify this pattern of biological diversity in the Altai region, we surveyed mtDNA variation in several Northern Altaians population from the Altai Republic, and compared the resulting data with the Altai-kizhi and other Siberian and Turkic speaking groups from the region. In addition, we combined the extensive genealogical and demographic data with the mtDNA data from these populations to more accurately reconstruct the prehistory of the Altai Mountain region, including the assessment of Altaian population structure as reckoned by oral histories and tribal clan (seok) membership.