The 81st Annual Meeting of the American Association of Physical Anthropologists (2012)

A test of cross-species exome sequencing in the rhesus macaque (Macaca mulatta)


1Department of Anthropology, New York University, 2Department of Anthropology, Lehman College, 3New York Consortium in Evolutionary Primatology, (NYCEP)

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The advent of high-throughput, second generation sequencing methods promises new insights into primate evolution and adaptation. In primates, links between genotypes and phenotypes have been explored with the "candidate gene approach," in which a locus with a phenotypic connection in a well-known organism is sequenced in other taxa. However, candidate gene insights do not always transfer between species, and this method has often found no sequence variation in new species that can reliably be associated with phenotypic variation. Collection of the full protein-coding genome (the exome) is an emerging alternative to candidate gene sequencing. In this study, we sequence the exome of a rhesus macaque (Macaca mulatta) using a targeted sequence enrichment protocol designed for the human genome. The availability of the sequenced macaque genome allows us to quantify how well the cross-species approach works in terms of accuracy, bias, and efficiency and evenness. Additionally, by mapping the reads to the annotated regions of the published macaque genome, we assess non-synonymous SNPs found in the exome for potential functional or disease connections. Since macaques, whose ancestors diverged from those of humans roughly 25 million years ago, are no more distant from humans than any other catarrhine primate, the success of our pilot study should be similar when applied in any other Old World monkey. The technique piloted in this study has the potential to extend the benefits of second-generation sequencing to primate taxa that lack a published genome.

This study was funded by NIH grant RR000168 to the NEPRC.

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