Neanderthal genetic material is found in only small amounts in the genomes of modern humans because, after inter-breeding, natural selection removed large numbers of weakly deleterious Neanderthal gene variants, says a study. Humans and Neanderthals inter-bred tens of thousands of years ago, but today, Neanderthal DNA makes up only one to four per cent of the genomes of modern non-African people.
“For a while now we have known that humans and Neanderthals hybridised. Many Europeans and Asians – along with other non-African populations – are the descendants of those hybrids,” said Ivan Juric from the University of California, Davis in the US.
“Previous work has also shown that, following hybridisation, many Neanderthal gene variants were lost from the modern human population due to selection. We wanted to better understand the causes of this loss,” Juric noted.
To understand how modern humans lost their Neanderthal genetic material and how humans and Neanderthals remained distinct, the researchers developed a novel method for estimating the average strength of natural selection against Neanderthal genetic material.
They found that natural selection removed many Neanderthal alleles from the genome that might have had mildly negative effects. The scientists estimated that these gene variations were able to persist in Neanderthals because Neanderthals had a much smaller population size than humans.
Once transferred into the human genome, however, these alleles became subject to natural selection, which was more effective in the larger human populations and has removed these gene variants over time.
“Our results are compatible with a scenario where the Neanderthal genome accumulated many weakly deleterious variants, because selection was not effective in the small Neanderthal populations. Those variants entered the human population after hybridisation,” Juric said.
“Once in the larger human population, those deleterious variants were slowly purged by natural selection,” Juric noted. These findings, published in the journal PLOS Genetics, shed new light on the role of population size on losing or maintaining Neanderthal ancestry in humans.