Details

Autor(en) / Beteiligte

• Karlsson, Elinor K
• Andersson, Leif
• Lindblad-Toh, Kerstin
• Baranowska, Izabella
• Wade, Claire M
• Salmon Hillbertz, Nicolette H C
• Zody, Michael C
• Anderson, Nathan
• Biagi, Tara M
• Patterson, Nick
• Pielberg, Gerli Rosengren
• Kulbokas, Edward J
• Comstock, Kenine E
• Keller, Evan T
• Mesirov, Jill P
• von Euler, Henrik
• Kämpe, Olle
• Hedhammar, Åke
• Lander, Eric S
• Andersson, Göran

Titel

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

Ist Teil von

• Nature genetics, 2007-11, Vol.39 (11), p.1321-1328

Ort / Verlag

United States: Nature Publishing Group

Erscheinungsjahr

2007

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 approximately 27,000 SNPs and show that genome-wide association mapping of mendelian traits in dog breeds can be achieved with only approximately 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 approximately 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.