Current advances in primate genomics: novel approaches for understanding evolution and disease

• Published in: Nature reviews. Genetics 2023-05, Vol.24 (5), p.314-331
• Main Authors: Juan, David, Santpere, Gabriel, Kelley, Joanna L., Cornejo, Omar E., Marques-Bonet, Tomas
• Format: Article
• Language: English
• Subjects: 631/181/2474; 631/208/182; 631/208/200; 631/208/212/748; Agriculture; Animal Genetics and Genomics; Animals; Biomedical and Life Sciences; Biomedicine; Cancer Research; Datasets; Divergence; Evolution; Evolution, Molecular; Gene Function; Gene polymorphism; Genetic diversity; Genetic Variation; Genome; Genomics; Genomics - methods; Human Genetics; Humans; Monkeys & apes; Organoids; Phenotypes; Phylogeny; Pluripotency; Primates - genetics; Review Article
• ISSN: 1471-0056; 1471-0064
• DOI: 10.1038/s41576-022-00554-w

Primate genomics holds the key to understanding fundamental aspects of human evolution and disease. However, genetic diversity and functional genomics data sets are currently available for only a few of the more than 500 extant primate species. Concerted efforts are under way to characterize primate genomes, genetic polymorphism and divergence, and functional landscapes across the primate phylogeny. The resulting data sets will enable the connection of genotypes to phenotypes and provide new insight into aspects of the genetics of primate traits, including human diseases. In this Review, we describe the existing genome assemblies as well as genetic variation and functional genomic data sets. We highlight some of the challenges with sample acquisition. Finally, we explore how technological advances in single-cell functional genomics and induced pluripotent stem cell-derived organoids will facilitate our understanding of the molecular foundations of primate biology. In this Review, the authors describe how advances in comparative primate genomics — complemented by multi-layered omic resources and primate cell systems — are providing insights into the evolution of primates and the genetic underpinnings of key traits of developmental and biomedical importance.