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Comparative Study
. 2015 Aug;44(4):194-201.
doi: 10.1111/jmp.12174. Epub 2015 May 11.

Heterospecific SNP diversity in humans and rhesus macaque (Macaca mulatta)

Jillian Ng  1 , Jessica Satkoski Trask  1   2 , David Glenn Smith  1   2 , Sree Kanthaswamy  1   2   3   4
Affiliations
Comparative Study

Heterospecific SNP diversity in humans and rhesus macaque (Macaca mulatta)

Jillian Ng et al. J Med Primatol. 2015 Aug.

Abstract

Background: Conservation of single nucleotide polymorphisms (SNPs) between human and other primates (i.e., heterospecific SNPs) in candidate genes can be used to assess the utility of those organisms as models for human biomedical research.

Methods: A total of 59,691 heterospecific SNPs in 22 rhesus macaques and 20 humans were analyzed for human trait associations and 4207 heterospecific SNPs biallelic in both taxa were compared for genetic variation.

Results: Variation comparisons at the 4207 SNPs showed that humans were more genetically diverse than rhesus macaques with observed and expected heterozygosities of 0.337 and 0.323 vs. 0.119 and 0.102, and minor allele frequencies of 0.239 and 0.063, respectively. In total, 431 of the 59,691 heterospecific SNPs are reportedly associated with human-specific traits.

Conclusion: While comparisons between human and rhesus macaque genomes are plausible, functional studies of heterospecific SNPs are necessary to determine whether rhesus macaque alleles are associated with the same phenotypes as their corresponding human alleles.

Keywords: Homo sapiens; genomic comparison; non-human primates; orthologs.

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Figures

Fig. 1
Fig. 1
Observed and expected heterozygosity distribution for rhesus macaque and human with significant mean differences (P < 0.01).
Fig. 2
Fig. 2
Minor allele frequency distribution for rhesus macaque and human with significant mean MAF value differences (P < 0.01).
See this image and copyright information in PMC

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