Some important work in genomics just published.
Drawing on sequence data from more than 155,000 Icelanders, the deCODE researchers examined the location, rate and connection between the two key drivers of human evolution. “What we show in this paper is how tightly linked recombinations and new mutations are,” Kari Stefansson, CEO of deCODE and the senior author of the study published in Science, told FierceBiotechResearch.
Well known already:
The most important finding of the study, Stefansson said, is that mutations don’t appear to happen randomly, as scientists have long assumed. “In about a thousand bases flanking the sides of recombinations, a mutation rate is increased almost 50-fold,” Stefansson said. This suggests that crossovers do have a role in the formation of new mutations.
“The classic premise of evolution is that it is powered first by random genetic change. But we see here in great detail how this process is in fact systematically regulated—by the genome itself and by the fact that recombination and de novo mutation are linked,” Stefansson said in a statement.
Notice that these are still random mutations, because they are not entirely predetermined. They have patterns. Phenomenally important work, with implications for both medical research and population demographics.
This paper also just came out:
It’s not every day that scientists accidentally uncover a gorilla paternity scandal. But when a team of researchers led by Søren Besenbacher in Denmark went looking for genetic data on great ape families, one of their gorilla fathers “turned out to be only half as related to the child as expected,” the researchers write.
More importantly, they studied mutation rate in Gorillas, showing that it was higher rate than humans. Once again, this important implications for our understanding.