Journal Article

A non-human primate system for large-scale genetic studies of complex traits

Anna J. Jasinska, Michelle K. Lin, Susan Service, Oi-Wa Choi, Joseph DeYoung, Olivera Grujic, Sit-Yee Kong, Yoon Jung, Mathew J. Jorgensen, Lynn A. Fairbanks, Trudy Turner, Rita M. Cantor, Jessica Wasserscheid, Ken Dewar, Wesley Warren, Richard K. Wilson, George Weinstock, J. David Jentsch and Nelson B. Freimer

in Human Molecular Genetics

Volume 21, issue 15, pages 3307-3316
Published in print August 2012 | ISSN: 0964-6906
Published online May 2012 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/dds160
A non-human primate system for large-scale genetic studies of complex traits

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Non-human primates provide genetic model systems biologically intermediate between humans and other mammalian model organisms. Populations of Caribbean vervet monkeys (Chlorocebus aethiops sabaeus) are genetically homogeneous and large enough to permit well-powered genetic mapping studies of quantitative traits relevant to human health, including expression quantitative trait loci (eQTL). Previous transcriptome-wide investigation in an extended vervet pedigree identified 29 heritable transcripts for which levels of expression in peripheral blood correlate strongly with expression levels in the brain. Quantitative trait linkage analysis using 261 microsatellite markers identified significant (n = 8) and suggestive (n = 4) linkages for 12 of these transcripts, including both cis- and trans-eQTL. Seven transcripts, located on different chromosomes, showed maximum linkage to markers in a single region of vervet chromosome 9; this observation suggests the possibility of a master trans-regulator locus in this region. For one cis-eQTL (at B3GALTL, beta-1,3-glucosyltransferase), we conducted follow-up single nucleotide polymorphism genotyping and fine-scale association analysis in a sample of unrelated Caribbean vervets, localizing this eQTL to a region of <200 kb. These results suggest the value of pedigree and population samples of the Caribbean vervet for linkage and association mapping studies of quantitative traits. The imminent whole genome sequencing of many of these vervet samples will enhance the power of such investigations by providing a comprehensive catalog of genetic variation.

Journal Article.  6632 words.  Illustrated.

Subjects: Genetics and Genomics

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