Base pairs of DNA that play a vital role in human disease have been identified by a researcher from USC. Dr. Steven Gazal, an assistant professor of population and public health sciences at the Keck School of Medicine of USC, is on a mission to answer a perplexing question: Why, despite millions of
An international research team has identified key base pairs in the human genome that remained consistent over millions of years of mammalian evolution, which play a significant role in human disease, highlighting genetic regions where mutations are not tolerated in evolution, a breakthrough that could improve our understanding of disease origins and inform future genetic research.
, is on a mission to answer a perplexing question: Why, despite millions of years of evolution, do humans still suffer from diseases? The team found that 3.3% of bases in the human genome are “significantly constrained,” including 57.6% of the coding bases that determine aminoposition, meaning these bases had unusually few variants across species in the dataset. The most constrained base pairs in mammals were over seven times more likely to be causal for human disease and complex traits, and over 11 times more likely when researchers looked at the most constrained base pairs in primates alone.
His team’s findings are a significant step forward, as Gazal notes, “We do not understand 99% of the human genome, so it is fundamental to understand which part has been constrained by evolution and is likely to have an impact on human phenotypes.” Their discoveries and methods could become crucial tools for further research.
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