November 22, 2013

What makes us human?

Using computational tools to search for the genetic basis of what makes us human, Vanderbilt Assistant Professor of Biomedical Informatics Tony Capra and colleagues at the University of California-San Francisco have identified promising candidate regions.


The genetic changes that distinguish humans from other primates are largely unknown, but Tony Capra, Ph.D., an investigator in the Center for Human Genetics Research at Vanderbilt, and colleagues at the University of California-San Francisco are using bioinformatics tools to compare genomes to probe this question.

In findings reported Nov. 11 in the Philosophical Transactions of the Royal Society B, they analyzed 2649 non-protein coding regions of the human genome that were conserved over tens of millions of years of primate evolution, but are dramatically changed in humans. Using computational models, they predicted that at least 30 percent of these regions regulate gene expression during development, particularly in the brain.

The researchers tested both human and chimpanzee genetic sequences for 29 of these regions in a mouse model and found that 24 regulated gene expression. Of these, five showed clear differences in the patterns of gene expression produced by the human and chimpanzee sequences, making them promising candidates in the search for the genetic basis of what makes us human.

This research was supported by grants from the National Institutes of Health (GM082901, HL098179), a PhRMA Foundation fellowship, a University of California Achievement Awards for College Scientists Scholarship, a gift from the San Simeon Fund, and institutional funds from the J. David Gladstone Institutes.

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