Document Detail

A de novo mutation in KIT causes white spotting in a subpopulation of German Shepherd dogs.
MedLine Citation:
PMID:  23134432     Owner:  NLM     Status:  Publisher    
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.
A K Wong; A L Ruhe; K R Robertson; E R Loew; D C Williams; M W Neff
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-8
Journal Detail:
Title:  Animal genetics     Volume:  -     ISSN:  1365-2052     ISO Abbreviation:  Anim. Genet.     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-8     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8605704     Medline TA:  Anim Genet     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2012 The Authors, Animal Genetics © 2012 Stichting International Foundation for Animal Genetics.
Veterinary Genetics Laboratory, University of California, Davis, CA, 95616, USA; Department of Computer Science, Princeton University, 35 Olden St, Princeton, NJ, 08540, USA.
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