That map allowed researchers to analyze how specific hot spots varied between men and women, and parents and children. “Some individuals use some hot spots more than others,” says Graham Coop, a researcher at the University of Chicago who led the work. Coop and his collaborators also found that men and women had different recombination rates and tended to use different hot spots for recombination. In addition, that pattern of hot-spot usage seemed to be inherited. “That suggests differences in recombination machinery between indviduals,” says Coop. He ultimately hopes to identify the genes that control recombination.
Stefansson and his colleagues do just that in a second study, also published Thursday in Science. The researchers scanned the genomes of 20,000 people for specific genetic variations linked to recombination rate. They identified two variations within a gene known as RNF212 that together accounted for 22 percent and 6.5 percent of paternal and maternal variation, respectively. Little is known about the function of the gene.
Surprisingly, these variations had opposite effects in men and women: the mutation that increased recombination in women did the opposite in men, and vice versa. The findings suggest an evolutionary mechanism for keeping control of genetic diversity. “It’s important to increase diversity, but if it goes unchecked, it’s likely to lead to instability in the genome that could be dangerous,” says Stefansson. “If you have the same sequence variant influencing recombination in one direction in men and the other direction in women, you have put together a mechanism to keep recombination rates within certain limits.”
Both studies shed light on the basic underpinnings of human evolution, which could ultimately impact human health. For example, abnormal recombination can result in miscarriage. Older women, who have higher rates of miscarriage, tend to have children whose genomes show evidence of higher recombination rate. A better understanding of the mechanisms underlying this observation could eventually lead to new fertility treatments.