A simple repeat polymorphism in the MITF-M promoter is a key regulator of white spotting in dogs.

ABSTRACT: The white spotting locus (S) in dogs is colocalized with the MITF (microphtalmia-associated transcription factor) gene. The phenotypic effects of the four S alleles range from solid colour (S) to extreme white spotting (s(w)). We have investigated four candidate mutations associated with the s(w) allele, a SINE insertion, a SNP at a conserved site and a simple repeat polymorphism all associated with the MITF-M promoter as well as a 12 base pair deletion in exon 1B. The variants associated with white spotting at all four loci were also found among wolves and we conclude that none of these could be a sole causal mutation, at least not for extreme white spotting. We propose that the three canine white spotting alleles are not caused by three independent mutations but represent haplotype effec

SUBMITTER: Baranowska Korberg I 

PROVIDER: S-EPMC4130573 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature