ArticleNature communications2024
Genetic diversity of 1,845 rhesus macaques improves genetic variation interpretation and identifies disease models.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed.
- A rhesus macaque model of α-dystroglycanopathy caused by a POMT1 splice altering variant.Animal models and experimental medicine · 2026Article
- Preexisting Fundus Findings in a Large Cohort of Young Cynomolgus Macaques (Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and Therapeutics · 2026Article
- Mergers and migrations: drivers of population genetic structure in a captive rhesus macaque colony.BMC genomics · 2026Article
- Rhesus macaques with anProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Assessment of genetic diversity and population structure of wild populations of Indian Rhesus macaque (Macaca mulatta) using mitochondrial DNA control region sequences.Molecular biology reports · 2026Article
- A Comparative Analysis of the Genetic Structures of Rhesus Macaques (Macaca mulatta) Kept in Enclosure-Based Systems and Semi-Natural Settings.Journal of the American Association for Laboratory Animal Science : JAALAS · 2026Article
- AFrontiers in cell and developmental biology · 2026Article
- Caloric Restriction Reprograms Adipose Tissues in Rhesus Monkeys.Aging cell · 2025Article
- Non-human primates as a translational model for the study of male reproductive health.Nature reviews. Urology · 2025Review
- A spontaneous nonhuman primate model of inherited retinal degeneration.JCI insight · 2025Article
- The genomic legacy of selectively breeding rhesus macaques for HIV/AIDS-related research.bioRxiv : the preprint server for biology · 2025Article
- A Review of Nonhuman Primate Models of Rift Valley Fever Virus Infection: Progress, Challenge Strains, and Future Directions.Pathogens (Basel, Switzerland) · 2024Review
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Authors and funding
22 authors.
Funding
Abstract
Understanding and treating human diseases require valid animal models. Leveraging the genetic diversity in rhesus macaque populations across eight primate centers in the United States, we conduct targeted-sequencing on 1845 individuals for 374 genes linked to inherited human retinal and neurodevelopmental diseases. We identify over 47,000 single nucleotide variants, a substantial proportion of which are shared with human populations. By combining rhesus and human allele frequencies with established variant prediction methods, we develop a machine learning-based score that outperforms established methods in predicting missense variant pathogenicity. Remarkably, we find a marked number of loss-of-function variants and putative deleterious variants, which may lead to the development of rhesus disease models. Through phenotyping of macaques carrying a pathogenic OPA1:p.A8S variant, we identify a genetic model of autosomal dominant optic atrophy. Finally, we present a public website housing variant and genotype data from over two thousand rhesus macaques.
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