Fourth, the standard deviation in Neanderthal ancestry among individuals from within the same population is 0.06–0.10%, in line with theoretical expectation (Supplementary Information section 3), showing that Neanderthal ancestry calculators that estimate differences on the order of a per cent18 are largely inferring statistical noise.Also of interest, showing that while overall Neandertal ancestry in Eurasians is low (1+%), this average includes region where it is much higher, and indeed the majority:
The Neanderthal introgression map reveals locations where Neanderthal ancestry is inferred to be as high as 62% in east-Asian and 64% in European populations (Fig. 1b and Extended Data Fig. 2).Finally:
We have shown that interbreeding of Neanderthals and modern humans introduced alleles onto the modern human genetic background that were not tolerated, which probably resulted in part from their contributing to male hybrid sterility. The resulting reduction in Neanderthal ancestry was quantitatively large: in the fifth of the genome with highest B, Neanderthal ancestry is 1.5460.15 times the genomewide average (Extended Data Table 4 and Supplementary Information section 9)22. If we assume that this subset of the genome was unaffected by selection, this implies that the proportion of Neanderthal ancestry shortly after introgression must have been >3%rather than the approximately 2% seen today.One of the lingering questions about Neandertal admixture is why there are no Neandertal Y-chromosomes or mtDNA in modern Eurasians. The disappearance of Neandertal mtDNA seems unlikely according to one study, but might be explained if negative selection was at play.
A different question is whether hybrid sterility was actually noticed by modern humans/Neandertals during the period of admixture. Modern societies have historically frowned upon mixture between diverged sapiens populations, even though there is no evidence that the offspring of, say, an African and a European are biologically disadvantaged. But, in the case of sapiens-Neandertal crossings, the offspring would have been biologically disadvantaged, a fact that may have been noticed over the span of a few generations.
Regardless of the historical dynamics of the admixture process, some of the Neandertal genome proved itself useful in its new sapiens hosts, and while the process may have been painful for the people involved, evolution found a way to use at least some of the material introduced to our species by our Neandertal cousins.
Nature (2014) doi:10.1038/nature12961
The genomic landscape of Neanderthal ancestry in present-day humans
Genomic studies have shown that Neanderthals interbred with modern humans, and that non-Africans today are the products of this mixture1, 2. The antiquity of Neanderthal gene flow into modern humans means that genomic regions that derive from Neanderthals in any one human today are usually less than a hundred kilobases in size. However, Neanderthal haplotypes are also distinctive enough that several studies have been able to detect Neanderthal ancestry at specific loci1, 3, 4, 5, 6, 7, 8. We systematically infer Neanderthal haplotypes in the genomes of 1,004 present-day humans9. Regions that harbour a high frequency of Neanderthal alleles are enriched for genes affecting keratin filaments, suggesting that Neanderthal alleles may have helped modern humans to adapt to non-African environments. We identify multiple Neanderthal-derived alleles that confer risk for disease, suggesting that Neanderthal alleles continue to shape human biology. An unexpected finding is that regions with reduced Neanderthal ancestry are enriched in genes, implying selection to remove genetic material derived from Neanderthals. Genes that are more highly expressed in testes than in any other tissue are especially reduced in Neanderthal ancestry, and there is an approximately fivefold reduction of Neanderthal ancestry on the X chromosome, which is known from studies of diverse species to be especially dense in male hybrid sterility genes10, 11, 12. These results suggest that part of the explanation for genomic regions of reduced Neanderthal ancestry is Neanderthal alleles that caused decreased fertility in males when moved to a modern human genetic background.