including humans - are greater than originally thought, according to an international team led by researchers at Penn State, the National Human Genome Research Institute (NHGRI) and the University of Washington. They revealed the genetic details with "complete" reference genomes, which are standardized sequences of a species' genes and other chromosomal regions. Complete reference genomes allow for comparison between species, enabling researchers to look for variations in DNA that might impact a species' health and survival. Assembling full DNA sequences from one end of each chromosome to the other was previously not possible due to technological and algorithmic limitations.
The findings, published today (April 9) in Nature, shed light on primate evolution and highlight new species-specific genes and genes with multiple copies.
"This work uncovered novel adaptive signatures in genes related to diet, immune response and cellular activity, offering precise insights into the evolutionary pressures shaping great ape genomes," said Christian Huber, assistant professor of biology at Penn State and co-author of the study.
The sequences are more accurate and complete than previous reference genomes and offer greater insights into genetic functions and disease mechanisms, including pinpointing genes and variants that are significant to health. Studies based on the new reference genomes, the team said, could help advance conservation genetics for endangered species as well as understanding of human evolution and health.
