- The earliest anatomically modern (albeit with archaic traits) skulls are found in Ethiopia (Omo skulls, dated to 195 thousand years ago)
- The shallow coalescence times of human mtDNA and Y-chromosomes (within the last 200 thousand years) is seen as evidence for a recent emergence of our species.
- Diminution of genetic diversity across Eurasia is proportional to distance from East Africa
- Modern human skulls may have been preserved in Ethiopia because of its climate which is favorable to preservation and/or the extreme interest by palaeoanthropologists on this region
- The shallow coalescence times may be the result of selective sweeps affecting these uniparental markers and do not, in general have much to say about the time depth of the species. Anyway, the molecular dates are highly suspect, not to mention that other genetic systems are supportive of more complex processes than the recent Out of Africa model popularized in the media.
- Diminution of genetic diversity across Eurasia tells us nothing about how genetic diversity is distributed within Africa itself. Indeed:
- We would expect the exit of modern humans to occur in East Africa irrespective of whether they originated there or not: decreased genetic diversity with distance from east Africa simply means that Eurasians may have passed through east Africa, not that they originated there.
- The law-like diminution of genetic diversity from east Africa is questionable
- The paper that is the subject of this post shows that within Africa east Africans are not the most genetically diverse
Rather, it proposes that modern humans (Homo sapiens) are genomic blends of components that originated at different times in different places: there was never an "African tribe on the verge of extinction that went on to populate the world", but a single set of interbreeding Homo populations where alleles could (and did) originate anywhere, and:
- the greater observed African diversity is due to a higher African effective population size
- the reduced overall diversity within our species is not due to a bottleneck but to the culling of variation by natural selection, although not of the classical sweep kind.
Things are clearly not simple.
What is the underlying assumption causing so many divergent opinions? I would say it is the phylogeographic axiom that greater diversity implies place of origin. This is made explicit by an author of the paper in the following quote:
Henn admits that migration could certainly be a possibility, but counters that when a population migrates, typically only a subset moves to a new area, and this subset is less genetically diverse than the parent population. She argues that if a group left eastern African for southern Africa it would be expected to have less diversity in the south. "This is not what we find in the data," she says.
True, but this tree-like model of human migration does not really capture the complexity of what happened. Because a population's diversity does not increase only when it is ancient, but also when it is admixed, the product of the coming together of two genetically divergent populations. Indeed, within the paper itself can be found this statement:
Recently Tishkoff et al. (3) suggested a potential origin for modern humans in southern Africa, on the basis of heterozygosity estimates from microsatellite data. However, their sample of KhoeSan was small, and the directionality of a southwestern origin of humans based on heterozygosity could have been driven by the inclusion of a highly admixed (and thus highly heterozygous) “Coloured” population.But, the same could very well be true for the highly diverse KhoeSan population of African hunter-gatherers! Their greater genetic diversity could mean they are highly admixed, rather than they are very old.
There is, however, an additional argument, based on patterns of linkage disequilibrium. Typically admixed individuals have high LD, as they inherit whole blocks of DNA from one or the other of the source populations. LD decays over time. A recently admixed population is expected to have high LD. Yet, it may very well be the case that the very low LD observed in the KhoeSan may be compatible with their status as an admixed population if the admixture event took place long ago.
Readers of the blog know that this is precisely what I have proposed: that African hunter-gatherers are to a large extent the product of old admixture between "modern" humans and archaic Africans, just as Eurasians may also be the product old admixture between "modern" humans and archaic Eurasians, such as the Neandertals or Denisovans.
Old admixture implies non-tree-like evolution and invalidates the aforementioned phylogeographic axiom. It implies that places of high diversity may be due to admixture, and not to antiquity.
In any case, while I don't believe that this paper proves the south African origin of mankind, it is an extremely important contribution to the sampling of African genomic diversity, and hopefully its data will be useful in the future, and I don't doubt that I will find some use of the ~55K SNPs for several populations in my Dodecad Project.
PNAS doi: 10.1073/pnas.1017511108
Hunter-gatherer genomic diversity suggests a southern African origin for modern humans
Brenna M. Henn et al.
Africa is inferred to be the continent of origin for all modern human populations, but the details of human prehistory and evolution in Africa remain largely obscure owing to the complex histories of hundreds of distinct populations. We present data for more than 580,000 SNPs for several hunter-gatherer populations: the Hadza and Sandawe of Tanzania, and the ≠Khomani Bushmen of South Africa, including speakers of the nearly extinct N|u language. We find that African hunter-gatherer populations today remain highly differentiated, encompassing major components of variation that are not found in other African populations. Hunter-gatherer populations also tend to have the lowest levels of genome-wide linkage disequilibrium among 27 African populations. We analyzed geographic patterns of linkage disequilibrium and population differentiation, as measured by FST, in Africa. The observed patterns are consistent with an origin of modern humans in southern Africa rather than eastern Africa, as is generally assumed. Additionally, genetic variation in African hunter-gatherer populations has been significantly affected by interaction with farmers and herders over the past 5,000 y, through both severe population bottlenecks and sex-biased migration. However, African hunter-gatherer populations continue to maintain the highest levels of genetic diversity in the world.