
Around 50,000 years ago, a new X chromosome appears to have been introduced into modern humans that had not long left Africa.
There was probably exceptionally strong selection for parts of this chromosome because, today, most people of less-recent African ancestry have inherited those regions.
at Aarhus University in Denmark, who led the research, thinks these regions may contain bits of so-called selfish DNA that promote their own spread by killing sperm that carry Y chromosomes. Such sperm lead to male offspring if they fertilise an egg. The selfish DNA may therefore result in the birth of more daughters. Exactly when this “killing” occurs is unclear.
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All this would lead to a higher proportion of people inheriting the X chromosome that carries the selfish DNA, causing it to spread rapidly in a population, in an example of meiotic drive, a kind of gene drive.
“For some reason, there’s a reluctance to entertain the thought that meiotic drive is a thing in humans,” says Terkelsen. Yet meiotic drives are being found in all the organisms we study closely, he says.
Terkelsen and his colleagues analysed X chromosomes from male humans in a database of genomes from around the world.
They found that people with long-standing African ancestry have an even diversity across their X chromosomes, meaning their DNA is a mix of genetic material from many different ancestors.
But in people without recent African ancestry, there are regions that are tens of thousands of DNA letters long with hardly any diversity. This suggests that each region derives from a single ancestor. Five of the regions were found in more than 75 per cent of people without recent African ancestry.
“The X chromosome is crazily enriched in these low-diversity regions,” says Terkelsen.
These X chromosome regions are also present in the genome of the Ust’-Ishim man, a modern human who lived in what is now Siberia around 45,000 years ago.
The team also found that the regions displaced bits of Neanderthal DNA that entered the population to which the Ust’‑Ishim man belonged around 10,000 years before his birth. This means these regions spread 55,000 to 45,000 years ago.
Terkelsen thinks the source of the regions was an X chromosome that arose in an east Asian population. This group may have then bred with the Ust’-Ishim man’s ancestors around this time.
The reason why the regions spread so rapidly could be to do with a lack of defence mechanisms on the Y chromosomes of the Ust’‑Ishim people, says Terkelsen. Meiotic drives result in an evolutionary battle between the sexes or, more specifically, the sex chromosomes.
The cells that give rise to sperm divide by a process called meiosis, which should result in half the sperm carrying an X chromosome and half a Y chromosome. But genetic variants can skew this and result in a greater or smaller number of boys or girls being born. In other words, a meiotic drive comes about because X or Y chromosomes selfishly favour their own survival, even if those variants are detrimental to the population as whole.
X and Y chromosomes can evolve mechanisms to counter the effects of meiotic drives on rival chromosomes, resulting in a more even balance of sons and daughters being born over time, which may be the case now among modern humans. But when a chromosome with a strong meiotic drive enters a new population with no counter mechanisms, that chromosome can rapidly spread.
This is just speculation, however, as Terkelsen makes clear. “This paper does not show anything other than a striking, puzzling observation,” he says.
“[Meoitic] drive seems like quite a reasonable hypothesis,” says at the Stowers Institute for Medical Research in Missouri. “Drive does lead to these type of sweep signatures.”
Several mechanisms that can lead to meiotic drive in humans have already been identified, says Zanders, at least one of which is linked to male infertility.
Future studies should look at whether the X chromosome regions the team identified are linked with male infertility, says Terkelsen, which would provide more evidence that these regions harbour a meiotic drive.
bioRxiv