New estimates of human mtDNA node dates and substitution rates (Rieux et al. 2014)

This is a quite useful paper as it compares different methods of obtaining mutation rate estimates, either using "archaeological calibration" based on known migration events or ancient mtDNA genomes (with known archaeological dates). The authors write:

Our estimate of 143 Kya [112-180 95% HPD] for the TMRCA of all modern human mtDNA is slightly younger but highly consistent with the 157 Kya [120-197 95% HPD] value obtained by Fu et al. (2013b). We stimate the coalescence of the L3 haplogroup (the lineage from which all non-African mtDNA haplogroups descend), often used to date the “out-of-Africa” event, to 72 Kya [54-93 95%HPD], a value also onsistent with Fu et al. (2013b) estimation of 78 Kya [62-95 95%HPD]. This estimation rather places a conservative upper bound of 93 kya for the time of the last major gene exchange between non-African nd sub-Saharan African populations. As pointed out by Fu et al. (2013b), it is important to recognize that this divergence time may merely represent the most recent gene exchanges between the ancestors f non-Africans and the most closely related sub-Saharan Africans and thus may reflect only the most recent population split in a long, drawn-out process of population separation (Scally and Durbin 2012).

The 72kya date would agree quite well with my postulated Out-of-Arabia event circa 70 thousand years ago.

It should be fairly easy to pick out the common ancestor of Eurasian mtDNA (the common ancestor of M+N). I am reasonably sure that the two African red dots to the right of event "8" in the figure are African L3's, and this would place them within the Eurasian variation, and in particular as a relative of Eurasian M.

A similar observation could be found in Supplementary Figure 14 of the Lippold et al. (2014) preprint, with African L3 lineages clearly related to Eurasian M (and nested within the Eurasian phylogeny).

In any case, I don't see any evidence at all from this phylogeny that the date of L3 corresponds to an Out-of-Africa event. Unfortunately I couldn't see an estimate for the split of L3 from the rest of the phylogeny; my eyeball estimate from the figure is that it's about 20ky earlier. Hopefully, someone sooner or later will deal with the question of L3 phylogeny, because the "conventional wisdom" that Eurasian M, N are nested within African L3 variation does not appear to be quite right.

Mol Biol Evol (2014) doi: 10.1093/molbev/msu222

Improved calibration of the human mitochondrial clock using ancient genomes

Adrien Rieux et al.

Reliable estimates of the rate at which DNA accumulates mutations (the substitution rate) are crucial for our understanding of the evolution and past demography of virtually any species. In humans, there are considerable uncertainties around these rates, with substantial variation among recent published estimates. Substitution rates have traditionally been estimated by associating dated events to the root (e.g. the divergence between humans and chimpanzees) or to internal nodes in a phylogenetic tree (e.g. first entry into the Americas). The recent availability of ancient mtDNA sequences allows for a more direct calibration by assigning the age of the sequenced samples to the tips within the human phylogenetic tree. But studies also vary greatly in the methodology employed and in the sequence panels analysed, making it difficult to tease apart the causes for the differences between previous estimates. To clarify this issue, we compiled a comprehensive dataset of 350 ancient and modern human complete mtDNA genomes, among which 146 were generated for the purpose of this study, and estimated substitution rates using calibrations based both on dated nodes and tips. Our results demonstrate that, for the same dataset, estimates based on individual dated tips are far more consistent with each other than those based on nodes and should thus be considered as more reliable.

Link

mtDNA haplogroup V7 from ~5,000-year old kurgan of the Novosvobodnaya culture

I am not sure that the finding of a single mtDNA V7 sample suggest "a role of the TRB culture in the development of the Novosvobodnaya culture", or, indeed with the labeling of the TRB as "Indo-European". In any case, it's good to see some ancient DNA from the North Caucasus.

Acta Naturae. 2014 Apr-Jun; 6(2): 31–35.

Analysis of the Mitochondrial Genome of a Novosvobodnaya Culture Representative using Next-Generation Sequencing and Its Relation to the Funnel Beaker Culture

A. V. Nedoluzhko et al.

The Novosvobodnaya culture is known as a Bronze Age archaeological culture in the North Caucasus region of Southern Russia. It dates back to the middle of the 4th millennium B.C. and seems to have occurred during the time of the Maikop culture. There are now two hypotheses about the emergence of the Novosvobodnaya culture. One hypothesis suggests that the Novosvobodnaya culture was a phase of the Maikop culture, whereas the other one classifies it as an independent event based on the material culture items found in graves. Comparison between Novosvobodnaya pottery and Funnelbeaker (TRB) pottery from Germany has allowed researchers to suggest that the Novosvobodnaya culture developed under the influence of Indo-European culture. Nevertheless, the origin of the Novosvobodnaya culture remains a matter of debate. We applied next-generation sequencing to study ~5000-year-old human remains from the Klady kurgan grave in Novosvobodnaya stanitsa (now the Republic of Adygea, Russia). A total of 58,771,105 reads were generated using Illumina GAIIx with a coverage depth of 13.4x over the mitochondrial (mt) DNA genome. The mtDNA haplogroup affiliation was determined as V7, suggesting a role of the TRB culture in the development of the Novosvobodnaya culture and supporting the model of sharing between Novosvobodnaya and early Indo-European cultures.

Link

Dairy farming transition ~2,500 years BC in the far north of Europe

Proceedings of the Royal Society B doi: 10.1098/rspb.2014.0819

Neolithic dairy farming at the extreme of agriculture in northern Europe

Lucy J. E. Cramp et al.

The conventional ‘Neolithic package’ comprised animals and plants originally domesticated in the Near East. As farming spread on a generally northwest trajectory across Europe, early pastoralists would have been faced with the challenge of making farming viable in regions in which the organisms were poorly adapted to providing optimal yields or even surviving. Hence, it has long been debated whether Neolithic economies were ever established at the modern limits of agriculture. Here, we examine food residues in pottery, testing a hypothesis that Neolithic farming was practiced beyond the 60th parallel north. Our findings, based on diagnostic biomarker lipids and δ13C values of preserved fatty acids, reveal a transition at ca 2500 BC from the exploitation of aquatic organisms to processing of ruminant products, specifically milk, confirming farming was practiced at high latitudes. Combining this with genetic, environmental and archaeological information, we demonstrate the origins of dairying probably accompanied an incoming, genetically distinct, population successfully establishing this new subsistence ‘package’.

Link

Yfitter preprint and software

arXiv:1407.7988 [q-bio.PE]

YFitter: Maximum likelihood assignment of Y chromosome haplogroups from low-coverage sequence data

Luke Jostins, Yali Xu, Shane McCarthy, Qasim Ayub, Richard Durbin, Jeff Barrett, Chris Tyler-Smith

(Submitted on 30 Jul 2014)

Low-coverage short-read resequencing experiments have the potential to expand our understanding of Y chromosome haplogroups. However, the uncertainty associated with these experiments mean that haplogroups must be assigned probabilistically to avoid false inferences. We propose an efficient dynamic programming algorithm that can assign haplogroups by maximum likelihood, and represent the uncertainty in assignment. We apply this to both genotype and low-coverage sequencing data, and show that it can assign haplogroups accurately and with high resolution. The method is implemented as the program YFitter, which can be downloaded from this http URL

Link

Craniofacial morphology of Greeks through 4,000 years

Anthropol Anz. 2014;71(3):237-57.

Craniofacial morphology in ancient and modern Greeks through 4,000 years.

Papagrigorakis MJ, Kousoulis AA, Synodinos PN. Abstract

BACKGROUND:

Multiple 20th century studies have speculated on the anthropological similarities of the modern inhabitants of Greece with their ancient predecessors. The present investigation attempts to add to this knowledge by comparing the craniofacial configuration of 141 ancient (dating around 2,000-500 BC) and 240 modern Greek skulls (the largest material among relevant national studies).

METHOD:

Skulls were grouped in age at death, sex, era and geographical categories; lateral cephalograms were taken and 53 variables were measured and correlated statistically. The craniofacial measurements and measurements of the basic quadrilateral and cranial polygon were compared in various groups using basic statistical methods, one-way ANOVA and assessment of the correlation matrices.

OBSERVATIONS:

Most of the measurements for both sexes combined followed an akin pattern in ancient and modern Greek skulls. Moreover, sketching and comparing the outline of the skull and upper face, we observed a clock-wise movement. The present study confirms that the morphological pattern of Greek skulls, as it changed during thousands of years, kept some characteristics unchanged, with others undergoing logical modifications.

CONCLUSION:

The analysis of our results allows us to believe that the influence upon the craniofacial complex of the various known factors, including genetic or environmental alterations, is apt to alter its form to adapt to new conditions. Even though 4,000 years seems too narrow a span to provoke evolutionary insights using conventional geometric morphometrics, the full presentation of our results makes up a useful atlas of solid data. Interpreted with caution, the craniofacial morphology in modern and ancient Greeks indicates elements of ethnic group continuation within the unavoidable multicultural mixtures.

Link

Wine cup of Pericles found

Wine cup used by Pericles found in grave north of Athens

Experts are "99 per cent" sure that the cup was used by the Athenian statesman, as one of the other names listed, Ariphron, is that of Pericles' elder brother.

"The name Ariphron is extremely rare," Angelos Matthaiou, secretary of the Greek Epigraphic Society, told the newspaper.

"Having it listed above that of Pericles makes us 99 per cent sure that these are the two brothers," he said.

Finding the cup of Pericles is cool, but finding his actual tomb would be even cooler. Thanks to Pausanias and other ancient observers, the location and identity of many of the tombs of ancient prominent Athenians is known.

Lethal mutations quantified

A very interesting new preprint on the arXiv (so it can be freely read). The founder population is the Hutterites. The key sentence:

Our approach indicates that on average, one in every two humans carries a recessive lethal allele on the autosomes that lead to lethality after birth and before reproductive age or to complete sterility.

arXiv:1407.7518 [q-bio.PE]

An estimate of the average number of recessive lethal mutations carried by humans

Ziyue Gao, Darrel Waggoner, Matthew Stephens, Carole Ober, Molly Przeworski

The effects of inbreeding on human health depend critically on the number and severity of recessive, deleterious mutations carried by individuals. In humans, existing estimates of these quantities are based on comparisons between consanguineous and non-consanguineous couples, an approach that confounds socioeconomic and genetic effects of inbreeding. To circumvent this limitation, we focused on a founder population with almost complete Mendelian disease ascertainment and a known pedigree. By considering all recessive lethal diseases reported in the pedigree and simulating allele transmissions, we estimated that each haploid set of human autosomes carries on average 0.29 (95% credible interval [0.10, 0.83]) autosomal, recessive alleles that lead to complete sterility or severe disorders at birth or before reproductive age when homozygous. Comparison to existing estimates of the deleterious effects of all recessive alleles suggests that a substantial fraction of the burden of autosomal, recessive variants is due to single mutations that lead to death between birth and reproductive age. In turn, the comparison to estimates from other eukaryotes points to a surprising constancy of the average number of recessive lethal mutations across organisms with markedly different genome sizes.

Link

Ancestry of Cubans

PLoS Genet 10(7): e1004488. doi:10.1371/journal.pgen.1004488

Cuba: Exploring the History of Admixture and the Genetic Basis of Pigmentation Using Autosomal and Uniparental Markers

Beatriz Marcheco-Teruel et al.

We carried out an admixture analysis of a sample comprising 1,019 individuals from all the provinces of Cuba. We used a panel of 128 autosomal Ancestry Informative Markers (AIMs) to estimate the admixture proportions. We also characterized a number of haplogroup diagnostic markers in the mtDNA and Y-chromosome in order to evaluate admixture using uniparental markers. Finally, we analyzed the association of 16 single nucleotide polymorphisms (SNPs) with quantitative estimates of skin pigmentation. In the total sample, the average European, African and Native American contributions as estimated from autosomal AIMs were 72%, 20% and 8%, respectively. The Eastern provinces of Cuba showed relatively higher African and Native American contributions than the Western provinces. In particular, the highest proportion of African ancestry was observed in the provinces of Guantánamo (40%) and Santiago de Cuba (39%), and the highest proportion of Native American ancestry in Granma (15%), Holguín (12%) and Las Tunas (12%). We found evidence of substantial population stratification in the current Cuban population, emphasizing the need to control for the effects of population stratification in association studies including individuals from Cuba. The results of the analyses of uniparental markers were concordant with those observed in the autosomes. These geographic patterns in admixture proportions are fully consistent with historical and archaeological information. Additionally, we identified a sex-biased pattern in the process of gene flow, with a substantially higher European contribution from the paternal side, and higher Native American and African contributions from the maternal side. This sex-biased contribution was particularly evident for Native American ancestry. Finally, we observed that SNPs located in the genes SLC24A5 and SLC45A2 are strongly associated with melanin levels in the sample.

Link

More selection on the X than in autosomes in humans

Mol Biol Evol (2014) doi: 10.1093/molbev/msu166

Evidence for Increased Levels of Positive and Negative Selection on the X Chromosome versus Autosomes in Humans

Krishna R. Veeramah et al.

Partially recessive variants under positive selection are expected to go to fixation more quickly on the X chromosome as a result of hemizygosity, an effect known as faster-X. Conversely, purifying selection is expected to reduce substitution rates more effectively on the X chromosome. Previous work in humans contrasted divergence on the autosomes and X chromosome, with results tending to support the faster-X effect. However, no study has yet incorporated both divergence and polymorphism to quantify the effects of both purifying and positive selection, which are opposing forces with respect to divergence. In this study, we develop a framework that integrates previously developed theory addressing differential rates of X and autosomal evolution with methods that jointly estimate the level of purifying and positive selection via modeling of the distribution of fitness effects (DFE). We then utilize this framework to estimate the proportion of nonsynonymous substitutions fixed by positive selection (α) using exome sequence data from a West African population. We find that varying the female to male breeding ratio (β) has minimal impact on the DFE for the X chromosome, especially when compared with the effect of varying the dominance coefficient of deleterious alleles (h). Estimates of α range from 46% to 51% and from 4% to 24% for the X chromosome and autosomes, respectively. While dependent on h, the magnitude of the difference between α values estimated for these two systems is highly statistically significant over a range of biologically realistic parameter values, suggesting faster-X has been operating in humans.

Link

Craniofacial feminization and the origin of behavioral modernity

Current Anthropology Vol. 55, No. 4, August 2014

Robert L. Cieri et al.

Abstract:

The past 200,000 years of human cultural evolution have witnessed the persistent establishment of behaviors involving innovation, planning depth, and abstract and symbolic thought, or what has been called “behavioral modernity.” Demographic models based on increased human population density from the late Pleistocene onward have been increasingly invoked to understand the emergence of behavioral modernity. However, high levels of social tolerance, as seen among living humans, are a necessary prerequisite to life at higher population densities and to the kinds of cooperative cultural behaviors essential to these demographic models. Here we provide data on craniofacial feminization (reduction in average brow ridge projection and shortening of the upper facial skeleton) in Homo sapiens from the Middle Pleistocene to recent times. We argue that temporal changes in human craniofacial morphology reflect reductions in average androgen reactivity (lower levels of adult circulating testosterone or reduced androgen receptor densities), which in turn reflect the evolution of enhanced social tolerance since the Middle Pleistocene.

Link

Early Neandertal disappearance in Iberia

Journal of Human Evolution DOI: 10.1016/j.jhevol.2014.06.002

New evidence of early Neanderthal disappearance in the Iberian Peninsula

Bertila Galván et al.

The timing of the end of the Middle Palaeolithic and the disappearance of Neanderthals continue to be strongly debated. Current chronometric evidence from different European sites pushes the end of the Middle Palaeolithic throughout the continent back to around 42 thousand years ago (ka). This has called into question some of the dates from the Iberian Peninsula, previously considered as one of the last refuge zones of the Neanderthals. Evidence of Neanderthal occupation in Iberia after 42 ka is now very scarce and open to debate on chronological and technological grounds. Here we report thermoluminescence (TL) and optically stimulated luminescence (OSL) dates from El Salt, a Middle Palaeolithic site in Alicante, Spain, the archaeological sequence of which shows a transition from recurrent to sporadic human occupation culminating in the abandonment of the site. The new dates place this sequence within MIS 3, between ca. 60 and 45 ka. An abrupt sedimentary change towards the top of the sequence suggests a strong aridification episode coinciding with the last Neanderthal occupation of the site. These results are in agreement with current chronometric data from other sites in the Iberian Peninsula and point towards possible breakdown and disappearance of the Neanderthal local population around the time of the Heinrich 5 event. Iberian sites with recent dates (less than 40 ka) attributed to the Middle Palaeolithic should be revised in the light of these data.

Link

k-means and structure

I was reading one of the many negative reviews of Nicholas Wade's new book when I came across this statement:

"The problem is that Structure, which uses an algorithm called “k-means,”"

I pointed out that Structure does not use k-means and a small discussion ensued on twitter. I see that the above statement has now been removed from the article, but an endnote on the topic remains:

*Originally, I wrote that STRUCTURE uses the k-means algorithm. Some population geneticists thought that I oversimplified what STRUCTURE does. Different clustering algorithms make different assumptions. STRUCTURE is indeed very similar to k-means, but with a particular error structure – binomial instead of gaussian. This is a fine technical detail compared with the principal point, which is that k is picked by the user, and does not emerge from the data automatically. To learn more, see this Twitter chain and this and this. Thanks to Graham Coop at UC Davis.

I did not intend to spend more time on this, but since the author of the article invited me to comment at more than 140 characters on the topic, I thought it was a good idea to do so.

k-means is completely unrelated to the structure algorithm of Pritchard and Stephens. Remember that structure can be run in either a no-mixture or a mixture mode. In both modes, the input is a set of N individuals and K, the number of ancestral populations. In the no-mixture mode, individuals are assigned to one of K populations, while in the mixture mode, their ancestry proportions from K populations are inferred. (Incidentally, allele frequencies in the K ancestral populations are also inferred, although usually not reported).

k-means has no mixture mode, but rather it is a clustering algorithm which assigns individuals to K populations. Thus, it can be used to solve the same problem as the no-mixture mode of structure. The two algorithms solve this problem in entirely different ways. Saying that structure uses k-means is equivalent to saying that any partitioning method into k groups uses k-means.

More importantly, structure is commonly used in mixture mode, including in the landmark paper by Rosenberg et al. (2002) that both Wade and the author of the review refer to. In this mode, structure does not even solve the same problem as k-means. Rather than find some partitioning of N individuals into K disjoint clusters, it estimates the mixture proportions of each of N individuals into all K populations. In practice (including the paper by Rosenberg et al. 2002), many individuals often have most (or all) of their ancestry from one or a few of the K populations. If humans had no structure at a particular K, the algorithm could very well produce a jumbled mess of different colors. Instead it produces neat ancestral populations that correspond well to what may be instantly recognizable as major human groups.

The reader is invited to look at any standard implementation of k-means, such as the one in R to be convinced that k-means does not even produce the same output as structure. The point is a trivial one, but k-means estimates N parameters (the cluster label for each of N individuals), whereas structure estimates N(K-1) parameters (the mixture proportions of N individuals in K populations; only K-1 numbers are needed as they have to add up to unity).

The only thing these algorithms have in common is that they require that the user input K. This point has been used by the plethora of negative reviews of Wade's book to argue that the classification of humans into biological races is arbitrary as it is subjective (it relies on user input of K).

This is a rather weak objection, for at least a couple of reasons: first, K can also be estimated from data and there are indeed clustering algorithms (such as fineStructure) that do not require user input of K and identify a value of K and organize the K ancestral populations into a hierarchical tree whose deep splits correspond exactly to the continental human races. Another popular algorithm, ADMIXTURE, proposes a cross-validation procedure to choose K. So, the choice of K can be automated and need not be subjective.

The more important reason against the "subjective K" objection is that it does not in any way invalidate the partitioning of humans into different K at different levels of granularity. This is reasonably easy to understand: the whole field of taxonomy divides living things into a hierarchical structure. In some cases it is useful to speak of vertebrates, and in others it's useful to speak of mammals, or primates, etc. In humans it's sometimes useful to speak of the entire species H. sapiens in contradistinction to other species, when studying what is common to humans, and sometimes it is useful to speak of major populations of H. sapiens (such as Europeans or East Asians), or minor ones (e.g., Mongols and Vietnamese), when studying how human groups differ from one another. These groupings are not arbitrary, but appear when biological traits (e.g., SNPs) are subjected to various types of analysis (including structure and similar algorithms).

Armed conflict in the Sahara, ~13 thousand years ago

An interesting story from the Independent:

Scientists are investigating what may be the oldest identified race war 13,000 years after it raged on the fringes of the Sahara. French scientists working in collaboration with the British Museum have been examining dozens of skeletons, a majority of whom appear to have been killed by archers using flint-tipped arrows.

...

Parallel research over recent years has also been shedding new light as to who, in ethnic and racial terms, these victims were.

Work carried out at Liverpool John Moores University, the University of Alaska and New Orleans’ Tulane University indicates that they were part of the general sub-Saharan originating population – the ancestors of modern Black Africans.

The identity of their killers is however less easy to determine. But it is conceivable that they were people from a totally different racial and ethnic group – part of a North African/ Levantine/European people who lived around much of the Mediterranean Basin.

The two groups – although both part of our species, Homo sapiens – would have looked quite different from each other and were also almost certainly different culturally and linguistically. The sub-Saharan originating group had long limbs, relatively short torsos and projecting upper and lower jaws along with rounded foreheads and broad noses, while the North African/Levantine/European originating group had shorter limbs, longer torsos and flatter faces. Both groups were very muscular and strongly built.

Generalist Genes influence both reading and math ability

Nature Communications 5, Article number: 4204 doi:10.1038/ncomms5204

The correlation between reading and mathematics ability at age twelve has a substantial genetic component

Oliver S. P. Davis

Dissecting how genetic and environmental influences impact on learning is helpful for maximizing numeracy and literacy. Here we show, using twin and genome-wide analysis, that there is a substantial genetic component to children’s ability in reading and mathematics, and estimate that around one half of the observed correlation in these traits is due to shared genetic effects (so-called Generalist Genes). Thus, our results highlight the potential role of the learning environment in contributing to differences in a child’s cognitive abilities at age twelve.

Link

Neandertal-like temporal labyrinth of Xujiayao 15

From the press release:

While it's tempting to use the finding of a Neandertal-shaped labyrinth in an otherwise distinctly "non-Neandertal" sample as evidence of population contact (gene flow) between central and western Eurasian Neandertals and eastern archaic humans in China, Trinkaus and colleagues argue that broader implications of the Xujiayao discovery remain unclear.  

"The study of human evolution has always been messy, and these findings just make it all the messier," Trinkaus said. "It shows that human populations in the real world don't act in nice simple patterns.  

"Eastern Asia and Western Europe are a long way apart, and these migration patterns took thousands of years to play out," he said. "This study shows that you can't rely on one anatomical feature or one piece of DNA as the basis for sweeping assumptions about the migrations of hominid species from one place to another."

I think this study highlights the possibility that some of the traits thought to be characteristic of Neandertals may in fact be part of Eurasian hominins in general, and the fact that they have been associated with Neandertals is a consequence of the much greater attention paid to that species until recently. As East Eurasian Pleistocene Homo becomes better described, it may become clear what are indeed the traits that were specific to H. neanderthalensis.

PNAS doi: 10.1073/pnas.1410735111

Temporal labyrinths of eastern Eurasian Pleistocene humans

Xiu-Jie Wu et al.

One of the morphological features that has been identified as uniquely derived for the western Eurasian Neandertals concerns the relative sizes and positions of their semicircular canals. In particular, they exhibit a relatively small anterior canal, a relatively larger lateral one, and a more inferior position of the posterior one relative to the lateral one. These discussions have not included full paleontological data on eastern Eurasian Pleistocene human temporal labyrinths, which have the potential to provide a broader context for assessing Pleistocene Homo trait polarities. We present the temporal labyrinths of four eastern Eurasian Pleistocene Homo, one each of Early (Lantian 1), Middle (Hexian 1), and Late (Xujiayao 15) Pleistocene archaic humans and one early modern human (Liujiang 1). The labyrinths of the two earlier specimens and the most recent one conform to the proportions seen among western early and recent modern humans, reinforcing the modern human pattern as generally ancestral for the genus Homo. The labyrinth of Xujiayao 15 is in the middle of the Neandertal variation and separate from the other samples. This eastern Eurasian labyrinthine dichotomy occurs in the context of none of the distinctive Neandertal external temporal or other cranial features. As such, it raises questions regarding possible cranial and postcranial morphological correlates of Homo labyrinthine variation, the use of individual “Neandertal” features for documenting population affinities, and the nature of late archaic human variation across Eurasia.

Link

Altitude adaptation in Tibetans came from Denisovans

This is somewhat strange given that Denisova cave is not at high altitude.

Nature (2014) doi:10.1038/nature13408

Altitude adaptation in Tibetans caused by introgression of Denisovan-like DNA

Emilia Huerta-Sánchez et al.

As modern humans migrated out of Africa, they encountered many new environmental conditions, including greater temperature extremes, different pathogens and higher altitudes. These diverse environments are likely to have acted as agents of natural selection and to have led to local adaptations. One of the most celebrated examples in humans is the adaptation of Tibetans to the hypoxic environment of the high-altitude Tibetan plateau1, 2, 3. A hypoxia pathway gene, EPAS1, was previously identified as having the most extreme signature of positive selection in Tibetans4, 5, 6, 7, 8, 9, 10, and was shown to be associated with differences in haemoglobin concentration at high altitude. Re-sequencing the region around EPAS1 in 40 Tibetan and 40 Han individuals, we find that this gene has a highly unusual haplotype structure that can only be convincingly explained by introgression of DNA from Denisovan or Denisovan-related individuals into humans. Scanning a larger set of worldwide populations, we find that the selected haplotype is only found in Denisovans and in Tibetans, and at very low frequency among Han Chinese. Furthermore, the length of the haplotype, and the fact that it is not found in any other populations, makes it unlikely that the haplotype sharing between Tibetans and Denisovans was caused by incomplete ancestral lineage sorting rather than introgression. Our findings illustrate that admixture with other hominin species has provided genetic variation that helped humans to adapt to new environments.

Link