Catalan university contributes to most comprehensive genomic study on primates

Catalan university UPF has contributed to the most comprehensive genomic study on primates to date, published in the academic journal 'Science.'

One of the leaders of the project is Tomàs Marquès-Bonet, who said the sequencing of the 233 species could help research on human diseases.

"Humans are primates, and the genomic study on hundreds of non-human primates, given its phylogenetic position, is very valuable for human evolution studies and to better understand the human genoma and the basis of our singularity, including the human diseases," said the ICREA researcher at IBE (CSIC-UPF).

Marquès-Bonet, along with other researchers such as Dr. Kyle Farh (Illumina) and Dr. Jeffrey Rogers (Baylor medicine faculty), have led the investigation into 809 specimens, covering almost half of all primate species on earth.

Other researchers at IBE and UPF have taken part in the paper: Lukas F.K. Kuderna, Alejandro Valenzuela, David Juan, Arcadi Navarro and Esther Lizano.

The study presents high-coverage whole-genome data from 233 primate species representing 86% of genera and all 16 families. Specimens from Asia, America, Africa and Madagascar have been used for the research.

Eight in ten species have been sequenced at Barcelona's National Center for Genomic Analysis (CNAG). "We have developed a new methodology of sequencing and we have analyzed over 600 genomes," said Ivo Gut, director at CNAG. He said it is a key study that has allowed to have a "very complete genetic variation of primates and also of human genome."

"We identified extensive recurrence of missense mutations previously thought to be human specific," reads the 'Science' article abstract. These mutations identified on apes are the basis to carry out comparative studies with the human variations and identify those key variants in a lot of human diseases.

One of the issues in clinical and human genetics nowadays is the difficulty in identifying which of the hundreds of thousands of mutations discovered are causing illnesses, such as diabetes, cancer or heart diseases.

The report has reached other conclusions. "We found within-species genetic diversity across families and geographic regions to be associated with climate and sociality, but not with extinction risk. Furthermore, mutation rates differ across species, potentially influenced by effective population sizes. Lastly, This study will open a wide range of research avenues for future primate genomic research," reads the paper.

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