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

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...

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Bibliographic Details
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
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Summary: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.
ISSN:1471-0056
1471-0064
DOI:10.1038/s41576-022-00554-w