An international research team, including Dr. Steven Gazal from USC, has identified critical base pairs in the human genome that have remained unchanged over millions of years of mammalian evolution. This research sheds light on genetic regions where mutations are detrimental and provides insight into the origins of human diseases. The team analyzed genomes from 240 mammals, identifying base pairs that are "constrained" across species, suggesting that mutations in these areas may lead to reduced evolutionary success. Their findings, published in a Zoonomia edition of the journal Science, indicate that 3.3% of human genome bases are significantly constrained and that the most constrained bases correspond to a higher likelihood of being causal for human diseases and complex traits. This research is crucial since up to 99% of the human genome remains not well understood. Gazal aims to leverage this information for future genetic studies, focusing next on primate-only datasets to narrow down recent evolutionary functions. The Zoonomia consortium provided the extensive genomic dataset, aiding researchers’ understanding of animal diversity and genetic variation’s implications for human health and disease.
