Wednesday, June 12, 2013

Genetic switches play big role in human evolution

A Cornell study offers further proof that the divergence of humans from chimpanzees some 4 million to 6 million years ago was profoundly influenced by mutations to DNA sequences that play roles in turning genes on and off.
The study, published June 9 in Nature Genetics, provides evidence for a 40-year-old hypothesis that regulation of genes must play an important role in evolution since there is little difference between humans and chimps in the proteins produced by genes. Indeed, human and chimpanzee proteins are more than 99 percent identical.
The researchers showed that the number of evolutionary adaptations to the part of the machinery that regulates genes, called transcription factor binding sites, may be roughly equal to adaptations to the genes themselves.
“This is the most comprehensive and most direct analysis to date of the evolution of gene regulatory sequences in humans,” said senior author Adam Siepel, Cornell associate professor of biological statistics and computational biology.
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