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2016 ; 203
(2
): 881-91
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The Genetic Cost of Neanderthal Introgression
#MMPMID27038113
Harris K
; Nielsen R
Genetics
2016[Jun]; 203
(2
): 881-91
PMID27038113
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Approximately 2-4% of genetic material in human populations outside Africa is
derived from Neanderthals who interbred with anatomically modern humans. Recent
studies have shown that this Neanderthal DNA is depleted around functional
genomic regions; this has been suggested to be a consequence of harmful epistatic
interactions between human and Neanderthal alleles. However, using published
estimates of Neanderthal inbreeding and the distribution of mutational fitness
effects, we infer that Neanderthals had at least 40% lower fitness than humans on
average; this increased load predicts the reduction in Neanderthal introgression
around genes without the need to invoke epistasis. We also predict a residual
Neanderthal mutational load in non-Africans, leading to a fitness reduction of at
least 0.5%. This effect of Neanderthal admixture has been left out of previous
debate on mutation load differences between Africans and non-Africans. We also
show that if many deleterious mutations are recessive, the Neanderthal admixture
fraction could increase over time due to the protective effect of Neanderthal
haplotypes against deleterious alleles that arose recently in the human
population. This might partially explain why so many organisms retain gene flow
from other species and appear to derive adaptive benefits from introgression.
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