Improved Mammal Reference Genome to Help ID Genetic Variations

Researchers now have a more complete picture of the rhesus macaque DNA sequence.
Derya Ozdemir

As a species of Old World monkey, rhesus macaques has an extensive history in medical and scientific research. Even preceding humans to space, rhesus antigens they carry in their blood have enabled doctors to distinguish the different human blood groups, and now, researchers at Baylor's Human Genome Sequencing Center have created a new framework to study with a genome sequencing project.

The research was published in the journal Science.

An accurate picture of the DNA Sequence

The rhesus macaque reference genome assembly was first created in 2007. By combining several advanced technologies, the researchers were able to substantially improve the 2007 assembly and provide a more complete picture of the rhesus macaque DNA sequence. 

Dr. Jeffrey Rogers, one of the corresponding authors of the study, stated, "This is a major step forward in the amount of information we have about genetic variation in the rhesus macaque."

"We have actually identified thousands of new mutations in the population of research animals. Now colleagues all over the country who are investigating various aspects of health and disease using rhesus macaques can begin to make use of that information."

More than 85 million genetic variants

By sequencing the genomes of 853 rhesus macaque from all around the world and comparing them to the new reference genome, the researchers were able to see that rhesus macaque have more genetic variants, more than 85 million genetic variants, per individual than humans.

Researchers now have the "largest database of genetic variation for any one nonhuman primate species to date." Moreover, they were able to find several damaging mutations in genes known to cause genetic disorders in humans, including autism and several others.


"We can find naturally occurring models of genetic disorders by surveying the rhesus macaque population," Rogers said. "We will find animals that naturally carry interesting and useful genetic mutations that can help us understand genetic variation and susceptibility to disease in humans.

"Rhesus macaques are also widely studied by primatologists and evolutionary biologists, so this new reference genome will also provide new insight into the evolution of the nonhuman primate and human genomes."

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