A de novo mutation in KIT causes white spotting in a subpopulation of German Shepherd dogs

作者：Wong A K; Ruhe A L; Robertson K R; Loew E R; Williams D C; Neff M W^*

来源：Animal Genetics, 2013, 44(3): 305-310.

DOI：10.1111/age.12006

• canine familiaris
• coat color
• melanocyte
• piebald

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.

• 出版日期2013-6