Identifying constrained sequences shared by species evolutionarily close to humans is challenging. Credit: Monty Rakusen/Getty Images
Hundreds of thousands of stretches of DNA have remained unchanged in humans and other primates for over 65 million years but not other mammals, genetic scientists have found1. These evolutionary records could play an important role in improving human health.
Constrained genes are parts of the genome that don’t encode proteins. They carry most of the genetic variations linked to risk of diseases. Identifying constrained sequences shared by species evolutionarily close to humans is challenging.
An international team of researchers, including a group at the CSIR-Centre for Cellular and Molecular Biology in Hyderabad, assembled the genomes of 239 species of primates (almost half of primate species) and compared them to the genomes of 202 mammal species.
They analysed regions in the genome that lack protein-coding genes but control the activity of nearby or distant genes in humans and other primates.
Previously, these regions were thought to be non-functional, but the researchers say such high levels of conservation, specifically across primates, indicate they are responsible for the development of characteristic features in humans, apes and monkeys not found in other animals.
The study expands the number of known conserved noncoding elements in the human genome and reveals that mutations in these regions often cause genetic disorders, including high cholesterol. Understanding the genetic causes of complex human diseases will help improve diagnoses, they add.
