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

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 59,691 heterospecific SNPs in 22 rhesus macaques and 20 humans were analyzed for human trait associations and 4,207 heterospecific SNPs biallelic in both taxa were compared for genetic variation. Results Variation comparisons at the 4,207 SNPs showed that humans were more genetically diverse than rhesus macaques with observed and expected heterozygosities of 0.337 and 0.323 versus 0.119 and 0.102, and minor allele frequencies of 0.239 and 0.063, respectively. 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.

Antibodies against the Ebola virus soluble glycoprotein are associated with long-term vaccine-mediated protection of non-human primates

“… 43 This is believed to be mediated by differences in immune cell populations and microbiota, 43 – 45 with a likely contribution of their divergent genetics, which may include divergence in FcR sequence and functionality. 46 – 48 However, the reduced efficacy observed in this study does replicate observations in humans of reduced vaccine efficacy at later time points and presents a unique opportunity to investigate antibody-mediated correlates of protection after rVSVΔG-ZEBOV-GP vaccination.…”

Choroidal Changes in Rhesus Macaques in Aging and Age-Related Drusen

“…Finally, despite the parallels between the biological life span of macaques and humans, including development, maturation, reproduction, and aging, the chronological age of these NHPs is considerably shorter. Monkeys in captivity may also demonstrate less genetic background heterogeneity, 81 healthier diets, and less severe environmental exposures than free-ranging animals or humans. 82 Thus, the drusen phenotype in our NHP cohort may reflect differences in genetic background, uveal pigmentation, chronological age, and dietary and environmental factors as compared to humans.…”

Identifying rhesus macaque gene orthologs using heterospecific human CNV probes

“…A more thorough assessment of CNVs in several rhesus macaque samples from different geographic populations is needed to provide better estimates of the number of CNV regions in this species' genome and the copy number at each CNV. This can be achieved through similar analyses as those done by Ng et al [35] who used the orthologous SNPs from Kanthaswamy et al's [17] study to design a custom SNP array and genotype multiple rhesus macaques so population genetic comparisons could be made.…”