期刊
ANIMAL GENETICS
卷 44, 期 3, 页码 305-310出版社
WILEY
DOI: 10.1111/age.12006
关键词
canine familiaris; coat color; melanocyte; piebald
资金
- Veterinary Genetics Laboratory of the University of California, Davis
- Van Andel Research Institute in Grand Rapids, Michigan
Although variation in the KIT gene is a common cause of white spotting among domesticated animals, KIT has not been implicated in the diverse white spotting observed in the dog. Here, we show that a loss-of-function mutation in KIT recapitulates the coat color phenotypes observed in other species. A spontaneous white spotting observed in a pedigree of German Shepherd dogs was mapped by linkage analysis to a single locus on CFA13 containing KIT (pairwise LOD=15). DNA sequence analysis identified a novel 1-bp insertion in the second exon that co-segregated with the phenotype. The expected frameshift and resulting premature stop codons predicted a severely truncated c-Kit receptor with presumably abolished activity. No dogs homozygous for the mutation were recovered from multiple intercrosses (P=0.01), suggesting the mutation is recessively embryonic lethal. These observations are consistent with the effects of null alleles of KIT in other species.
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