Efficient mapping of mendelian traits in dogs through genome-wide association

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With several hundred genetic diseases and an advantageous genome structure, dogs are ideal for mapping genes that cause disease. Here we report the development of a genotyping array with |[sim]|27,000 SNPs and show that genome-wide association mapping of mendelian traits in dog breeds can be achieved with only |[sim]|20 dogs. Specifically, we map two traits with mendelian inheritance: the major white spotting (S) locus and the hair ridge in Rhodesian ridgebacks. For both traits, we map the loci to discrete regions of <1 Mb. Fine-mapping of the S locus in two breeds refines the localization to a region of |[sim]|100 kb contained within the pigmentation-related gene MITF. Complete sequencing of the white and solid haplotypes identifies candidate regulatory mutations in the melanocyte-specific promoter of MITF. Our results show that genome-wide association mapping within dog breeds, followed by fine-mapping across multiple breeds, will be highly efficient and generally applicable to trait mapping, providing insights into canine and human health.

Baranowska, Izabella (author)
Wade, Claire M. (author)
Salmon Hillbertz, Nicolette H. C.Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, Sweden(Swepub:uu)nishi838 (author)
Zody, Michael C. (author)
Anderson, Nathan (author)
Biagi, Tara M. (author)
Patterson, Nick (author)
Pielberg, Gerli RosengrenUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi(Swepub:uu)gepie020 (author)
Kulbokas, Edward J. (author)
Comstock, Kenine E. (author)
Keller, Evan T. (author)
Mesirov, Jill P. (author)
von Euler, Henrik (author)
Kämpe, OlleUppsala universitet,Institutionen för medicinska vetenskaper,Autoimmuna sjukdomar (Kämpe)(Swepub:uu)ollekamp (author)
Hedhammar, Åke (author)
Lander, Eric S. (author)
Andersson, Göran (author)
Andersson, LeifUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi(Swepub:uu)leand227 (author)
Lindblad-Toh, KerstinUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi(Swepub:uu)kerli865 (author)
Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, Uppsala, SwedenInstitutionen för medicinsk biokemi och mikrobiologi (creator_code:org_t)

In:Nature Genetics: Springer Science and Business Media LLC39:11, s. 1321-13281061-40361546-1718

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