November 06, 2010

ADMIXTURE in Siberia, Greenland, and Alaska

I have discovered a great dataset from Rasmussen et al. (2010). The data had been used before in conjunction with an ancient DNA sequence, but for me it is invaluable, as it fills up one of the major holes in Eurasia, namely Siberia, and includes a number of Altaic, Uralic, and other North Eurasian people. I suspect that this will be invaluable in fine-tuning the Northeast Asian ancestry of Dodecad Project members.

To begin with, after I processed the data, I ran ADMIXTURE on it up to K=7. Below you can see the results for K=7:

I'm no expert in linguistics, but it's clear to me that the light blue component corresponds to Altaic speakers. It will be extremely interesting to see what the analysis including other Altaic speakers from my other datasets as well as West Eurasians of Uralic/Altaic language or with "Northeast Asian" admixture will show.

The table below has sample sizes and admixture proportions.

Stay tuned. More to come.

November 05, 2010

Y chromosomes and mtDNA of Tuareg nomads from the African Sahel


Related:
European Journal of Human Genetics 18, 915-923 (August 2010) | doi:10.1038/ejhg.2010.21

Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of the Tuareg nomads from the African Sahel

The Tuareg presently live in the Sahara and the Sahel. Their ancestors are commonly believed to be the Garamantes of the Libyan Fezzan, ever since it was suggested by authors of antiquity. Biological evidence, based on classical genetic markers, however, indicates kinship with the Beja of Eastern Sudan. Our study of mitochondrial DNA (mtDNA) sequences and Y chromosome SNPs of three different southern Tuareg groups from Mali, Burkina Faso and the Republic of Niger reveals a West Eurasian-North African composition of their gene pool. The data show that certain genetic lineages could not have been introduced into this population earlier than ~9000 years ago whereas local expansions establish a minimal date at around 3000 years ago. Some of the mtDNA haplogroups observed in the Tuareg population were involved in the post-Last Glacial Maximum human expansion from Iberian refugia towards both Europe and North Africa. Interestingly, no Near Eastern mtDNA lineages connected with the Neolithic expansion have been observed in our population sample. On the other hand, the Y chromosome SNPs data show that the paternal lineages can very probably be traced to the Near Eastern Neolithic demic expansion towards North Africa, a period that is otherwise concordant with the above-mentioned mtDNA expansion. The time frame for the migration of the Tuareg towards the African Sahel belt overlaps that of early Holocene climatic changes across the Sahara (from the optimal greening ~10 000 YBP to the extant aridity beginning at ~6000 YBP) and the migrations of other African nomadic peoples in the area.

Link

November 04, 2010

Clustering of European Y-STRs

Roewer et al. had previously discovered structure in European Y-chromosomes with Y-STRs. The new study, five years later, uses a huge database of population samples. While Y-SNPs defining haplogroups are safer due to the avoidance of homoplasy, which can be a problem with a few Y-STR markers, I believe that most major haplogroups can be distinguished even with few Y-STRs, so the paper's results are valid.

From the paper:
In a total of 33,010 males we identified 4176 different haplotypes, 2192 were unique, and 56 corresponded to 42% of the Y chromosomes
Interesting that such a small fraction of haplotypes corresponds to almost half the Y chromosomes. 7 Y-STRs are generally not sufficient to define monophyletic lineages (as the Cohen Modal Haplotype folks well know by now). It would be interesting to see what this fraction is expected to be under an assumption of reproductive equality, to assess the strength of social selection that I've speculated may be behind the mega-haplogroups we observe in the world today.

Here is a synthetic map of Europe showing distribution of different clusters:


(a) Spatial distribution of the most frequent Y-STR haplotype clusters in
Europe and neighboring regions.
(b) Spatial distribution of the Y-STR haplotype clusters accounting for
the second frequency in western Europe.

Now, take a look at a map of predicted language distribution by Finnish scholar Kalevi Wiik for 5,500 BC:

The correspondence is not perfect, but it's pretty close to merit study. The little differences can be ascribed to 7,500 years of history; for example, in 5,500BC there were probably no Germanic speakers in Scandinavia.

Also of interest:
Two clusters were assigned to large areas of the Balkan Peninsula: 1) Croatia, Bosnia and Herzegovina, Serbia, Romania,Western and Eastern Hungary, and Central Ukraine: cluster 18;(2) continental Greece, Bulgaria, and Macedonia: cluster2. Cluster13 was assigned to Albania and to the western area of the Balkans 10 and cluster 11 to the Caucasus.

Forensic Science International: Genetics doi:10.1016/j.fsigen.2010.09.010

Geostatistical inference of main Y-STR-haplotype groups in Europe

Amalia Diaz-Lacava et al.

We examined the multifarious genetic heterogeneity of Europe and neighboring regions from a geographical perspective. We created composite maps outlining the estimated geographical distribution of major groups of genetically similar individuals on the basis of forensic Y-chromosomal markers. We analyzed Y-chromosomal haplotypes composed of 7 highly polymorphic STR loci, genotyped for 33,010 samples, collected at 249 sites in Europe, Western Asia and North Africa, deposited in the YHRD database (www.yhrd.org). The data set comprised 4176 different haplotypes, which we grouped into 20 clusters. For each cluster, the frequency per site was calculated. All geostatistical analysis was performed with the geographic information system GRASS-GIS. We interpolated frequency values across the study area separately for each cluster. Juxtaposing all 20 interpolated surfaces, we point-wisely screened for the highest cluster frequencies and stored it in parallel with the respective cluster label. We combined these two types of data in a composite map. We repeated this procedure for the second highest frequencies in Europe. Major groups were assigned to Northern, Western and Eastern Europe. North Africa built a separate region, Southeastern Europe, Turkey and Near East were divided into several regions. The spatial distribution of the groups accounting for the second highest frequencies in Europe overlapped with the territories of the largest countries. The genetic structure presented in the composite maps fits major historical geopolitical regions and is in agreement with previous studies of genetic frequencies, validating our approach. Our genetic geostatistical approach provides, on the basis of two composite maps, detailed evidence of the geographical distribution and relative frequencies of the most predominant groups of the extant male European population, examined on the basis of forensic Y-STR haplotypes. The existence of considerable genetic differences among geographic subgroups in Europe has important consequences for the statistical inference in forensic Y-STR haplotype analyses.

Link

Brains to Hand-axes

Stone Age Humans Needed More Brain Power to Make Big Leap in Tool Design
Stone Age humans were only able to develop relatively advanced tools after their brains evolved a greater capacity for complex thought, according to a new study that investigates why it took early humans almost two million years to move from razor-sharp stones to a hand-held stone axe.


Wikipedia on Acheulean, and Oldowan.

PLoS ONE 5(11): e13718. doi:10.1371/journal.pone.0013718

The Manipulative Complexity of Lower Paleolithic Stone Toolmaking

Aldo Faisal et al.

Background
Early stone tools provide direct evidence of human cognitive and behavioral evolution that is otherwise unavailable. Proper interpretation of these data requires a robust interpretive framework linking archaeological evidence to specific behavioral and cognitive actions.

Methodology/Principal Findings
Here we employ a data glove to record manual joint angles in a modern experimental toolmaker (the 4th author) replicating ancient tool forms in order to characterize and compare the manipulative complexity of two major Lower Paleolithic technologies (Oldowan and Acheulean). To this end we used a principled and general measure of behavioral complexity based on the statistics of joint movements.

Conclusions/Significance
This allowed us to confirm that previously observed differences in brain activation associated with Oldowan versus Acheulean technologies reflect higher-level behavior organization rather than lower-level differences in manipulative complexity. This conclusion is consistent with a scenario in which the earliest stages of human technological evolution depended on novel perceptual-motor capacities (such as the control of joint stiffness) whereas later developments increasingly relied on enhanced mechanisms for cognitive control. This further suggests possible links between toolmaking and language evolution.

Link

November 03, 2010

Sickle cell and malaria (Piel et al. 2010)

The authors ascribe the lack of correlation between malaria endemicity and HbS in Asia primarily to either the presence of other protective polymorphisms or the fact that Plasmodium vivax rather than Plasmodium falciparum is the causative agent there.

Nature Communications 1 , Article number: 104 doi:10.1038/ncomms1104

Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis

Frédéric B. Piel et al.

It has been 100 years since the first report of sickle haemoglobin (HbS). More than 50 years ago, it was suggested that the gene responsible for this disorder could reach high frequencies because of resistance conferred against malaria by the heterozygous carrier state. This traditional example of balancing selection is known as the 'malaria hypothesis'. However, the geographical relationship between the transmission intensity of malaria and associated HbS burden has never been formally investigated on a global scale. Here, we use a comprehensive data assembly of HbS allele frequencies to generate the first evidence-based map of the worldwide distribution of the gene in a Bayesian geostatistical framework. We compare this map with the pre-intervention distribution of malaria endemicity, using a novel geostatistical area-mean comparison. We find geographical support for the malaria hypothesis globally; the relationship is relatively strong in Africa but cannot be resolved in the Americas or in Asia.

Link

November 02, 2010

ADMIXTURE analysis of Spencer Wells

One of the people who've entrusted me with their DNA for analysis in the Dodecad Project is none other than the Genographic Project's Spencer Wells. His project ID is DOD162, and he is the very last individual to be included in the project's pilot phase.

I've enjoyed watching the Genographic Project's various documentaries and reading their published articles, often commenting on them in this blog, so it's a nice opportunity to give something back to the leader of one of the few organizations that is really helping advance our knowledge of human origins.


Here are the results of the admixture analysis: Spencer Wells is in the first bar, and admixture proportions of the 10 components I am using are color-coded for both himself and 36 other populations.

His results are uneventful: his bar is very similar to the one next to it, which summarizes the admixture proportions of 25 individuals from the HapMap-3 CEU population. His top component is North European (60.6%) as his appearance and Northwest European ancestry would suggest. Next is South European (24.9%) and West Asian (13.5%). Rounding up his results is a small slice (1%) of Southwest Asian.

Below you can see Spencer followed by the 25 CEU individuals; these are American Whites from Utah, and as you can see, while there is some small variation in proportions and minor components, he "fits right in" this population.
I have also compared him against the 16 Dodecad Project participants who belong to my "American White" category. This is a rather fuzzy category, consisting of European-descended Americans and Canadians whose ancestry was not entirely from one of my other categories. In that population, the average components are: 11.3% West Asian, 0.2% Northwest African, 26.8% South European, 0.1% Northeast Asian, 1.2% SW Asian, 60.4% N European, 0.1% S Asian, also quite close to Spencer's results.

Cranial differences between Japanese Samurai and townsfolk


International Journal of Osteoarchaeology DOI: 10.1002/oa.1215

Evidence for temporal and social differences in cranial dimensions in Edo-period Japanese

Tomohito Nagaoka et al.

This study examined the craniometric traits of the Edo-period (AD1603–1867) human skeletons from the Hitotsubashi site in Tokyo, compared them with temporally and socially various populations, and attempted to detect the morphological differentiation patterns that the Edo-period Japanese exhibited over time and under those social/environmental conditions. The materials measured here were the townsmen's crania from the Hitotsubashi site, which were dated back to the early half of the Edo period. The observations revealed that the Hitotsubashi samples were more dolichocephalic than any other Edo series and were different from subsequent Edo series in terms of larger maximum cranial length and smaller maximum cranial breadth. The Hitotsubashi samples were definitely in contrast with those of Tentokuji and Shirogane, both of which included a samurai (warrior) class of the late to final Edo period and exhibited the most brachycephalic crania. It is reasonable to assume that the temporal and social situations were possibly related to the observed cranial variation and that the temporal changes in cranial dimensions in pre-modern Japan might have reflected the nutritional and environmental conditions.

Link

African Pygmy news

Two new papers, one using mtDNA, one using skulls.

From the paper:
Shape variation indicates that western groups present longer vaults and shorter faces than eastern groups (Fig. 1B). Variation on PC2 involves differentiation in the shape produced mainly by the short distance between bregma and vertex (Fig. 2) being the vertex more anteriorly located in pygmies than in non-pygmies.

...

Differences in CS were significant (p less than0.05) and they concerns Western pygmies which show a smaller cranial size than both Eastern and Western non-pygmies; it is worth to note that Eastern pygmies do not show significant difference in size with any group


Also:
Results of the PCA indicate that the main cranial shape differentiation does not occur between pygmies and non-pygmies but between Eastern and Western populations (pygmies and non-pygmies) (Table 1; Fig. 1A); all comparison between East and West groups reach a high level of significance (p less than 0.01). Eastern non-pygmies appear as the most distinctive group and differentiate from pygmies and Western non-pygmies in relative and absolute values. Since western pygmies show a higher level of admixture than eastern pygmies, it can be expected that the former differentiate less than the latter from non-pygmies.

PLoS ONE 5(10): e13620. doi:10.1371/journal.pone.0013620

Diversity among African Pygmies

Fernando V. Ramírez Rozzi, Marina L. Sardi

Although dissimilarities in cranial and post-cranial morphology among African pygmies groups have been recognized, comparative studies on skull morphology usually pull all pygmies together assuming that morphological characters are similar among them and different with respect to other populations. The main aim of this study is to compare cranial morphology between African pygmies and non-pygmies populations from Equatorial Africa derived from both the Eastern and the Western regions in order to test if the greatest morphological difference is obtained in the comparison between pygmies and non-pygmies. Thirty three-dimensional (3D) landmarks registered with Microscribe in four cranial samples (Western and Eastern pygmies and non-pygmies) were obtained. Multivariate analysis (generalized Procrustes analysis, Mahalanobis distances, multivariate regression) and complementary dimensions of size were evaluated with ANOVA and post hoc LSD. Results suggest that important cranial shape differentiation does occur between pygmies and non-pygmies but also between Eastern and Western populations and that size changes and allometries do not affect similarly Eastern and Western pygmies. Therefore, our findings raise serious doubt about the fact to consider African pygmies as a homogenous group in studies on skull morphology. Differences in cranial morphology among pygmies would suggest differentiation after divergence. Although not directly related to skull differentiation, the diversity among pygmies would probably suggest that the process responsible for reduced stature occurred after the split of the ancestors of modern Eastern and Western pygmies.

Link

Next paper:

Mol Biol Evol (2010) doi: 10.1093/molbev/msq294

Insights into the demographic history of African Pygmies from complete mitochondrial genomes

Chiara Batini et al.

Pygmy populations are among the few hunter-gatherers currently living in sub-Saharan Africa and are mainly represented by two groups, Eastern and Western, according to their current geographical distribution. They are scattered across the Central African belt and surrounded by Bantu-speaking farmers, with whom they have complex social and economic interactions. To investigate the demographic history of Pygmy groups, a population approach was applied to the analysis of 205 complete mitochondrial DNA (mtDNA) sequences from ten central African populations. No sharing of maternal lineages was observed between the two Pygmy groups, with haplogroup L1c being characteristic of the Western group, but most of Eastern Pygmy lineages falling into sub-clades of L0a, L2a and L5. Demographic inferences based on Bayesian coalescent simulations point to an early split among the maternal ancestors of Pygmies and those of Bantu-speaking farmers (∼70,000 ya, years ago). Evidence for population growth in the ancestors of Bantu-speaking farmers has been observed, starting ∼65,000 ya, well before the diffusion of Bantu languages. Subsequently, the effective population size of the ancestors of Pygmies remained constant over time and ∼27,000 ya, coincident with the Last Glacial Maximum, Eastern and Western Pygmies diverged, with evidence of subsequent migration only among the Western group and the Bantu-speaking farmers. Western Pygmies show signs of a recent bottleneck 4,000 – 650 ya, coincident with the diffusion of Bantu languages, while Eastern Pygmies seem to have experienced a more ancient decrease in population size (20,000 - 4,000 ya). In conclusion, the results of this first attempt at analysing complete mtDNA sequences at the population level in sub-Saharan Africa not only support previous findings but also offer new insights into the demographic history of Pygmy populations, shedding new light on the ancient peopling of the African continent.

Link

Ex oriente, Plague!

From a related NYTimes story:
The great waves of plague that twice devastated Europe and changed the course of history had their origins in China, a team of medical geneticists reported Sunday, as did a third plague outbreak that struck less harmfully in the 19th century.

And in separate research, a team of biologists reported conclusively this month that the causative agent of the most deadly plague, the Black Death, was the bacterium known as Yersinia pestis. This agent had always been the favored cause, but a vigorous minority of biologists and historians have argued the Black Death differed from modern cases of plague studied in India, and therefore must have had a different cause.

UPDATE: My Latin failed me, it's ex oriente. It's somewhat difficult to remember a language you don't get to speak :)

PLoS Pathog 6(10): e1001134. doi:10.1371/journal.ppat.1001134

Distinct Clones of Yersinia pestis Caused the Black Death

Stephanie Haensch et al.

From AD 1347 to AD 1353, the Black Death killed tens of millions of people in Europe, leaving misery and devastation in its wake, with successive epidemics ravaging the continent until the 18th century. The etiology of this disease has remained highly controversial, ranging from claims based on genetics and the historical descriptions of symptoms that it was caused by Yersinia pestis to conclusions that it must have been caused by other pathogens. It has also been disputed whether plague had the same etiology in northern and southern Europe. Here we identified DNA and protein signatures specific for Y. pestis in human skeletons from mass graves in northern, central and southern Europe that were associated archaeologically with the Black Death and subsequent resurgences. We confirm that Y. pestis caused the Black Death and later epidemics on the entire European continent over the course of four centuries. Furthermore, on the basis of 17 single nucleotide polymorphisms plus the absence of a deletion in glpD gene, our aDNA results identified two previously unknown but related clades of Y. pestis associated with distinct medieval mass graves. These findings suggest that plague was imported to Europe on two or more occasions, each following a distinct route. These two clades are ancestral to modern isolates of Y. pestis biovars Orientalis and Medievalis. Our results clarify the etiology of the Black Death and provide a paradigm for a detailed historical reconstruction of the infection routes followed by this disease.

Link

Nature Genetics | doi:10.1038/ng.705

Yersinia pestis genome sequencing identifies patterns of global phylogenetic diversity

Giovanna Morelli et al.

Plague is a pandemic human invasive disease caused by the bacterial agent Yersinia pestis. We here report a comparison of 17 whole genomes of Y. pestis isolates from global sources. We also screened a global collection of 286 Y. pestis isolates for 933 SNPs using Sequenom MassArray SNP typing. We conducted phylogenetic analyses on this sequence variation dataset, assigned isolates to populations based on maximum parsimony and, from these results, made inferences regarding historical transmission routes. Our phylogenetic analysis suggests that Y. pestis evolved in or near China and spread through multiple radiations to Europe, South America, Africa and Southeast Asia, leading to country-specific lineages that can be traced by lineage-specific SNPs. All 626 current isolates from the United States reflect one radiation, and 82 isolates from Madagascar represent a second radiation. Subsequent local microevolution of Y. pestis is marked by sequential, geographically specific SNPs.

Link

November 01, 2010

Joe Pickrell redux

Joe Pickrell discovers Jewish great-grandparent
Second, Dienekes followed up on his analysis of the ancestry of the GNZ participants with a much larger data set, including individuals of southwest European descent. As expected, when including more data, there was no evidence that Vincent has any Ashkenazi ancestry. Unexpectedly, this was not true for me—even in this larger analysis, the evidence for Ashkenazi ancestry didn’t disappear.

...

As I was mulling over these sorts of issues, I sent the link to my previous analysis to a family member. I didn’t really expect this person to find it that interesting, but hey, you never know. I then got a phone call. I’ll summarize a couple days worth of moderate confusion, second-hand reports of conversations with distant relatives, and family intrigue with this: as it turns out, one of my great-grandparents was indeed a Polish Ashkenazi Jew who immigrated to the United States around the turn of the century. I, obviously, was completely unaware of this.
So to conclude, a tip of my hat to Dienekes and everyone else who looked at these data—this has been the first genuinely unexpected thing to come out of my genetic data.
I've estimated Joe's ancestry here and here.

He is included in the Dodecad Project's spreadsheet as JKP001.

His "Southwest Asian" score of 6.7% is consistent with but not indicative of Jewish ancestry, as this component is found in West Asia and Europe, although it attains its maximum in Saudi Arabia and occurs at about 20% in European Jews.

So, while I wouldn't conclude that he had partial Jewish ancestry based on his data, the issue is no longer relevant due to the emergence of the new genealogical information.

This is an example of what I called "cryptic ancestry" as a possible explanation for people getting unexpected results.

October 29, 2010

Continuity between Neolithic, Bronze Age, and recent Sardinians


The serendipity of this paper appearing just now is incredible. Sardinians emerge as belonging over 96.2% in a "Southern European" genetic component revealed by ADMIXTURE analysis, while peninsular Italians typically also possess to a great extent the West Asian, Northern European, and Southwest Asian components.

(On the right my ADMIXTURE analysis, with the Sardinian element in light green)

So, it is a great joy to read that this component may indeed correspond to an ancient southern European population inhabiting the island since Neolithic times, while peninsular Italy has deviated from this population, probably as the result of the settlement of Romano-Celts, Greeks, and all the other historical processes which have affected it through history, and which can be detected in the genetic record.

Note that, Sardinia is also one of the few locations in the world so far where there is clear evidence of mtDNA continuity, with many other samples showing contrasts with modern populations.

Homo. 2010 Oct 25. [Epub ahead of print]

Craniofacial morphometric variation and the biological history of the peopling of Sardinia.

D'Amore G, Di Marco S, Floris G, Pacciani E, Sanna E.

Abstract

The aim of this work is to explore the pattern of craniofacial morphometric variation and the relationships among five prehistoric Sardinian groups dated from Late Neolithic to the Nuragic Period (Middle and Late Bronze Age), in order to formulate hypotheses on the peopling history of Sardinia. Biological relationships with coeval populations of central peninsular Italy were also analysed to detect influences from and towards extra-Sardinian sources. Furthermore, comparison with samples of contemporary populations from Sardinia and from continental Italy provided an indication of the trend leading to the final part of the peopling history. Finally, Upper Palaeolithic and Mesolithic samples were included in the analyses to compare the prehistoric Sardinians with some of their potential continental ancestors. The analysis is based on multivariate techniques including Mahalanobis D(2) distance, non-parametric multidimensional scaling (MDS) and principal component analysis (PCA). The results showed the tendency to progressive differentiation between Sardinian groups and peninsular Italian groups, with the possible exception of a discontinuity showed by the Bonnànaro (Early Bronze Age) Sardinian sample. Several aspects of the morphological results were found to agree with the current genetic evidence available for the present-day Sardinian population and a Nuragic sample: (1) biological divergence between the Sardinian and peninsular Italian populations; (2) similarity/continuity among Neolithic, Bronze Age and recent Sardinians; (3) biological separation between the Nuragic and Etruscan populations; (4) contribution of a Palaeo-Mesolithic gene pool to the genetic structure of current Sardinians.

Link

Another theory about Neandertal-modern interbreeding

Jean M points me to a paper about the theory of Neandertal introgression into the modern human gene pool that I had overlooked.

The paper echoes many of my criticisms about the theory which I expressed here and here.

The authors put it quite succinctly what was expected of the Neandertal genome by the two competing theories (Out-of-Africa vs. multi-regional) that stand on opposite ends of the spectrum:
There are two predominant models of modern human origins: multiregional evolution and recent African replacement. Multiregional evolution posits that the evolution of contemporary peoples occurred around the globe, with archaic populations such as the Neandertals contributing locally in their geographic regions [4]. This model predicts that Neandertals will share significant genetic variation with Europeans to the exclusion of other populations. Recent African replacement suggests that contemporary humans owe their heritage to a small African population that spread around the world replacing archaic populations with little to no interbreeding [5]. This model predicts that Neandertals will be equally distantly related to all contemporary human populations.
The surprising find about the Neandertal genome is that they were more closely related to Eurasians than to Africans (Yoruba and San): this conflicts with both models. The authors of the original study saw two ways out of this:

First, that humans absorbed Neandertal genes in the Levant that somehow managed to get distributed evenly across Eurasia, to the extent that a Papuan is as close to Neandertals as a European is, even though there is no hint of Neandertal presence in Papua or thousands of km close to it.

Second, that there was African population structure, and that Neandertals and modern humans formed a clade with respect to other African hominids. The breakdown of this structure drove some Africans away from Neandertals, rather than Neandertal admixture in Eurasians driving them towards Neandertals.

The authors of the current paper propose that:
We propose a third alternative. The paleontological and archaeological records suggest that modern humans and Neandertals overlapped in the Eastern Mediterranean region around 100 thousand years ago during a time when the African faunal zone extended temporarily into the Middle East. The range of modern humans then likely contracted back into Africa, severing contact with Neandertals, before finally expanding their range out of Africa around 50 thousand years ago [11]. Admixture may not have been possible during this time because a southern route out of Africa through the Arabian peninsula [12] would not have put the populations in contact. Any admixture would have occurred prior to the expansion of modern humans out of Africa between East Africans and Neandertals (Figure 1C). If this is correct, Neandertal genes will be found at low frequency in East Africans and perhaps others. These low-frequency Neandertal genes may then have been pushed to high frequency or fixation in the out of Africa populations through the iterated founder effect associated with range expansions [13].
The authors call (like I did) for sampling East Africans for evidence of "Neandertal genes".

Of course East African-Neandertal admixture prior to the Eurasian expansion would have the desired effect, the same as my favored model of deep African population structure.

But, a new curveball was thrown our way by the discovery of 100ky anatomically modern humans in south China. The third alternative seems less plausible now: it would be possible to think of modern (Neandertal-admixed) humans retreating back to east Africa after 100ky due to a retreat of African fauna from the Middle East when we didn't know about the Chinese modern Homo sapiens. But, now, we have to conclude that there were modern humans living between Israel and south China 100ky ago, and any idea of retreat becomes implausible.

Thus, I still believe that the 2nd scenario (deep African population structure + common Neandertal-sapiens ancestor in East Africa) is more plausible.

Nonetheless I, like the authors, have arrived -for different reasons- at the same conclusion: east Africans need to be sampled for Neandertal genes.

If humans admixed with Neandertals in Eurasia, then we expect East Africans to have Neandertal genes in proportion to their Eurasian admixture. Let's say 4% Neandertal genes and 10% Eurasian admixture in a particular east African population. Then, we expect about 0.4% Neandertal genes in this population. If we find much more, then there will be something wrong with the theory of "Neandertal admixture in Eurasia".

Current Biology Volume 20, Issue 12, 22 June 2010, Pages R517-R519

Neandertal Genome: The Ins and Outs of African Genetic Diversity

Jason A. Hodgsona, Christina M. Bergeya and Todd R. Disotell

Summary

Analysis of the Neandertal genome indicates gene flow between Neandertals and modern humans of Eurasia but not Africa. This surprising result is difficult to reconcile with current models of human origins and might have to do with insufficient African sampling.

Link

Facial composite of "global human"

Razib points me to a Dutch article where a "global average" was created, by averaging 1470 people in 25 countries, taking into account population size. Not sure what the exact methodology is (feel free to comment if you have more info), but it looks plausible enough. Here is a link to the original article (in Dutch).

October 28, 2010

1000 Genomes Project has arrived

John Hawks covers it (it's open access). But, here is an interesting tidbit from the supplement. Onto it Y-chromosome sleuths!
14.4. Y chromosome Haplogroups
A maximum likelihood haplogroup tree under a HKY model of evolution was produced using phyML, and bootstrap values were produced using 100 subsamplings. Trees were produced using both all 2870 filtered sites (Supplementary Figure 7), and the 1971 UYR sites; though there was very little difference between the two trees. The haplogroup tree classifies all the major haplogroups as monomorphic, and recovers the relationships between them, with high bootstrap confidence. It also shows evidence for a deep division between haplogroups DE and CT, previously identified only by a single marker (P143; Karafet, Mendez et al. 2008). New insights into recent human evolution can also be gained from the branch lengths; for example, the short internal branch lengths within the haplogroup R1b relative to the other haplogroups suggest a recent expansion of this European haplogroup (Balaresque, Bowden et al. 2010).


Nature 467 , 1061–1073 (28 October 2010) doi:10.1038/nature09534

A map of human genome variation from population-scale sequencing

The 1000 Genomes Project Consortium

The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms. We undertook three projects: low-coverage whole-genome sequencing of 179 individuals from four populations; high-coverage sequencing of two mother–father–child trios; and exon-targeted sequencing of 697 individuals from seven populations. We describe the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants, most of which were previously undescribed. We show that, because we have catalogued the vast majority of common variation, over 95% of the currently accessible variants found in any individual are present in this data set. On average, each person is found to carry approximately 250 to 300 loss-of-function variants in annotated genes and 50 to 100 variants previously implicated in inherited disorders. We demonstrate how these results can be used to inform association and functional studies. From the two trios, we directly estimate the rate of de novo germline base substitution mutations to be approximately 10−8 per base pair per generation. We explore the data with regard to signatures of natural selection, and identify a marked reduction of genetic variation in the neighbourhood of genes, due to selection at linked sites. These methods and public data will support the next phase of human genetic research.

Link

Long live the 28th October 1940

In celebration of today's holiday, I've opened up submission to the Dodecad project (for a limited time) to many more groups than my target ones.

October 27, 2010

Origin of Indian Austroasiatic speakers

Mol Biol Evol (2010) doi: 10.1093/molbev/msq288

Population Genetic Structure in Indian Austroasiatic speakers: The Role of Landscape Barriers and Sex-specific Admixture

Gyaneshwer Chaubey et al.

The geographic origin and time of dispersal of Austroasiatic (AA) speakers, presently settled in South and Southeast Asia, remains disputed. Two rival hypotheses, both assuming a demic component to the language dispersal, have been proposed. The first of these places the origin of Austroasiatic speakers in Southeast Asia with a later dispersal to South Asia during the Neolithic, whereas the second hypothesis advocates pre-Neolithic origins and dispersal of this language family from South Asia. To test the two alternative models this study combines the analysis of uniparentally inherited markers with 610,000 common SNP loci from the nuclear genome. Indian AA speakers have high frequencies of Y chromosome haplogroup O2a; our results show that this haplogroup has significantly higher diversity and coalescent time (17-28 KYA) in Southeast Asia, strongly supporting the first of the two hypotheses. Nevertheless, the results of principal component and “structure-like” analyses on autosomal loci also show that the population history of AA speakers in India is more complex, being characterised by two ancestral components - one represented in the pattern of Y chromosomal and EDAR results, the other by mtDNA diversity and genomic structure. We propose that AA speakers in India today are derived from dispersal from Southeast Asia, followed by extensive sex-specific admixture with local Indian populations.

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