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A de novo mutation in KIT causes white spotting in a subpopulation of G erman S hepherd dogs
Author(s) -
Wong A. K.,
Ruhe A. L.,
Robertson K. R.,
Loew E. R.,
Williams D. C.,
Neff M. W.
Publication year - 2013
Publication title -
animal genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.756
H-Index - 81
eISSN - 1365-2052
pISSN - 0268-9146
DOI - 10.1111/age.12006
Subject(s) - biology , frameshift mutation , genetics , spotting , null allele , exon , phenotype , white (mutation) , allele , locus (genetics) , mutation , microbiology and biotechnology , gene , physics , optics
Summary 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 G erman S hepherd dogs was mapped by linkage analysis to a single locus on CFA 13 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‐ K it 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.