Npgrj_ng_2007-10 1..8
نویسندگان
چکیده
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 B27,000 SNPs and show that genome-wide association mapping of mendelian traits in dog breeds can be achieved with only B20 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 o1 Mb. Fine-mapping of the S locus in two breeds refines the localization to a region of B100 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.
منابع مشابه
NpgRJ_ng_2007-2 1338..1349
Miguel Angel Pujana1,2,16,17, Jing-Dong J Han1,2,16,17, Lea M Starita3,16,17, Kristen N Stevens4,17, Muneesh Tewari1,2,16, Jin Sook Ahn1,2, Gad Rennert5, Vı́ctor Moreno6,7, Tomas Kirchhoff 8, Bert Gold9, Volker Assmann10, Wael M ElShamy2, Jean-François Rual1,2, Douglas Levine8, Laura S Rozek6, Rebecca S Gelman11, Kristin C Gunsalus12, Roger A Greenberg2, Bijan Sobhian2, Nicolas Bertin1,2, Kavith...
متن کاملNpgRJ_Ng_2007-27 1..6
Robert M Plenge1–3, Chris Cotsapas1,3, Leela Davies1, Alkes L Price1,4, Paul I W de Bakker1,3,4, Julian Maller1,3, Itsik Pe’er5, Noel P Burtt1, Brendan Blumenstiel1, Matt DeFelice1, Melissa Parkin1, Rachel Barry1, Wendy Winslow1, Claire Healy1, Robert R Graham1,3, Benjamin M Neale1,3,6, Elena Izmailova7, Ronenn Roubenoff 7, Alexander N Parker7, Roberta Glass2, Elizabeth W Karlson2, Nancy Maher2...
متن کاملNpgrj_ng_2007-57 1..7
We have performed a genome-wide analysis of common genetic variation controlling differential expression of transcript isoforms in the CEU HapMap population using a comprehensive exon tiling microarray covering 17,897 genes. We detected 324 genes with significant associations between flanking SNPs and transcript levels. Of these, 39% reflected changes in whole gene expression and 55% reflected ...
متن کاملNpgrj_Ng_2007-30 43..50
The c-Myc oncogenic transcription factor (Myc) is pathologically activated in many human malignancies. Myc is known to directly upregulate a pro-tumorigenic group of microRNAs (miRNAs) known as the miR-17–92 cluster. Through the analysis of human and mouse models of B cell lymphoma, we show here that Myc regulates a much broader set of miRNAs than previously anticipated. Unexpectedly, the predo...
متن کاملNpgRJ_NG_2007-63 249..254
Mammalian mitochondrial DNA (mtDNA) is inherited principally down the maternal line, but the mechanisms involved are not fully understood. Females harboring a mixture of mutant and wild-type mtDNA (heteroplasmy) transmit a varying proportion of mutant mtDNA to their offspring. In humans with mtDNA disorders, the proportion of mutated mtDNA inherited from the mother correlates with disease sever...
متن کامل