Approximately 25 million years ago, an ancestor of both humans and apes genetically diverged from monkeys and lost its tail. No one had identified the genetic mutation responsible for this dramatic change in our physiology — until now.
"Bo is really a genius because he looked at something that thousands of people, at least, must have looked at before — but he saw something different," said Itai Yanai, scientific director of the Applied Bioinformatics Laboratories at NYU Langone Health and a senior author of the study.Jumping genes and"dark matter"Over millions of years, changes in DNA allow animals to evolve. Some changes involve only a single rung in DNA's twisted ladder, but others are more complex.
In this case, however, when cells use the TBXT gene to generate RNA, the repetitive nature of the Alu sequences causes them to bind together. This complex structure still gets cut out of the larger RNA molecule but takes an entire exon with it, thereby changing the final code for and structure of the resulting protein."We did a lot of other analyses of other genes implicated in tail length or morphology.
"Mutations like this have often been thought to be of limited consequence in evolution. Here the authors show that such a mutation has had a profound impact on our species," said Kirk Lohmueller, a professor of ecology and evolutionary biology and of human genetics at the University of California, Los Angeles who was not involved in the study.
Notably, evolutionary biologists hypothesize that the loss of the tail allowed humans to become bipedal, according to a 2015 review."We are the only paper that has ever put together a plausible scenario for how it happened," Yanai told Live Science. "No one ever thought that, by just following our curiosity, we would make a mouse lose their tail by putting in the same mutation … and then we see the mouse also has a neural tube defect," Yanai added.
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