But rather than disrupt human biology, they say, some of these deletions created new genetic encodings that eliminated elements that would normally turn genes off. In their study, the Yale team found that some genetic sequences found in the genomes of most other mammal species, from mice to whales, vanished in humans. The paper was one of several published in Science from the Zoonomia Project, an international research collaboration that is cataloging the diversity in mammalian genomes by comparing DNA sequences from 240 species of mammals that exist today. "Often we think new biological functions must require new pieces of DNA, but this work shows us that deleting genetic code can result in profound consequences for traits make us unique as a species," said Steven Reilly, an assistant professor of genetics at Yale School of Medicine and senior author of the paper. The fact that these genetic deletions became conserved in all humans, the authors say, attests to their evolutionary importance, suggesting that they conferred some biological advantage. These 10,000 missing pieces of DNA - which are present in the genomes of other mammals - are common to all humans, the Yale team found. ![]() Some of those "deleted" pieces of genetic information are closely related to genes involved in neuronal and cognitive functions, including one associated with the formation of cells in the developing brain. ![]() While a revolution in the capacity to collect data from genomes of different species has allowed scientists to identify additions that are specific to the human genome - such as a gene that was critical for humans to develop the ability to speak - less attention has been paid to what's missing in the human genome.įor the new study researchers used an even deeper genomic dive into primate DNA to show that the loss of about 10,000 bits of genetic information - most as small as a few base pairs of DNA - over the course of our evolutionary history differentiate humans from chimpanzees, our closest primate relative. ![]() The new findings, published April 28 in the journal Science, fill an important gap in what is known about historical changes to the human genome.
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