Clandestine trysts and human evolution

Recent advances in the field of paleogenomics (the study of ancient genomes) have uncovered the story of inter-species mating in those early days out of Africa before dispersal into Eurasia. Prior to these studies we’ve had little evidence supporting either cultural interaction with archaic humans or inter-breeding.

Clandestine trysts or common practice? The draft sequence of the Neanderthal genome published in 2010 revealed that we mated with Neanderthals in the Near East enough to share 1-4% of our DNA with them. On the heels of the draft sequence of the Neandertal genome, the same team published the Denisovan genome using DNA extracted from an exceptionally preserved finger bone from remains found in Denisova Cave in Siberia. The archaeological data at Denisova show a mixed toolkit with elements of Upper- and Middle-Paleolithic industries. Molar morphology indicated Denisovans were distinct from both modern and known archaic humans. The genomic data indicate Denisovans were indeed a new species with unique genomic markers. The power of modern genomics allows us to also find evidence of mating with modern humans, specifically modern Melanesians who share 4-6% of their genomes with Denisovans. Were these matings clandestine trysts or was there more at stake—some flow of genes to modern humans that helped us adapt to the novel environments of Europe and Asia?

Genomic breadcrumbs? Preliminary comparisons between Neandertal and human genes indicate significant differences in aspects of cognition, metabolism, and skeletal and skin morphology. But what about the inherited portion of the genome? Does it have a role in any functional aspect of our biology and physiology? Dr. Green, lead author on the draft sequence of the Neandertal genome described the inherited portion as ‘sparsely distributed across the genome, just a ‘bread crumbs’ clue of what happened in the past’. But two new papers tell a different story, suggesting that inter-breeding may have significantly contributed to successful adaptation to the new environments of Eurasia.

In the summer of 2011, another team identified a Neandertal origin for a unique cluster of co-inherited gene variants (a haplotype) in the non-coding segment of the dystrophin gene on the X-chromosome. This haplotype occurs at a frequency of 9% in all modern non-African human populations and likely first appeared in the genome prior to or very early in the migration out of Africa. The authors of the study posit that either this genetic (and/or cultural) exchange enabled successful modern human adaptations to the novel environments of Eurasia. There is an intriguing possibility that human males left Africa in greater numbers and mated with archaic females: an earlier study on modern human variation found the X-chromosome experienced more than expected genetic drift at the time of human migration out of Africa, a pattern not found in the migrations into East Asia and Europe.The authors of this study conclude that female effective population size was reduced compared to males due to some sex-biased process or natural selection affecting the X-chromosome in non-African populations.

Speculations that inherited genomic material conferred a fitness advantage gained further ground in a study published this summer in Nature. A Stanford University team identified HLA gene variants that are rare in modern Africans but significantly present in West Asians, again suggesting genetic admixture outside Africa prior to Eurasian expansion. HLA class I genes are critical to the immune system because they target and destroy pathogens. The authors of the study argue that inter-breeding restored HLA diversity that was reduced by a population bottleneck in migration out of Africa, citing examples of similar events in the evolutionary genetic history of the peopling of the Americas. Not only was diversity restored to modern humans but new immune variants specifically adapted to local pathogens may have been acquired in the process as well. HLA-A*11 (associated with Epstein-Barr virus protection), for example, has become a dominant form in non-African populations occurring at rates of 64% in East Asia and Oceania (and even more in Papua New Guinea) suggesting strong selection. The high frequency of these gene variants (as compared with other regions of the genome) may be explained by the need for the immune system to be flexible to new pathogens (particularly rapidly evolving viruses), rendering it more susceptible to the forces of natural selection.

The future of the past. If the data from these various studies is supported by future work, we may end up rethinking our relationship to our closest cousins – were we separate species? Even field biologists who have the array of genes, biology, physiology and behavior sometimes have trouble determining whether two groups be classed as separate species or not. For those working in paleoanthropology or paleogenomics, the dataset is even more limited and the creation of new taxa is temporary pending further data but useful as a heuristic tool.

The field of paleogenomics is relatively young and has a tremendous number of methodological and technical challenges to overcome before we can comfortably say that the sequences yielded are authentic and reliably represent the genetic data. A major challenge is verifying and authenticating the endogenous (or local) DNA in a specimen that has been potentially contaminated by microbes and human researchers. The past decade has been punctuated by marvelous advances that have helped us better understand recent human evolution and ourselves. The possibility that our advantage in global colonization derives from early acts of inter-breeding is a fascinating one. With the rapid advancements in technology and increased interest in ancient DNA, the future looks promising for unraveling the story of the immediate past.

1. Green, R. E. et al., Science 328, 710 (2010).
2. Reich, D. et al., Nature 468, 1053 (2010).