A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs

@inproceedings{Krberg2014ASR,
  title={A Simple Repeat Polymorphism in the MITF-M Promoter Is a Key Regulator of White Spotting in Dogs},
  author={Izabella Baranowska K{\"o}rberg and Elisabeth Sundstr{\"o}m and Jennifer R. S. Meadows and Gerli Rosengren Pielberg and Ulla Gustafson and {\AA}ke Hedhammar and Elinor K Karlsson and Jennifer Seddon and Arne S{\"o}derberg and Carles Vil{\`a} and Xiaolan Zhang and Mikael {\AA}kesson and Kerstin Lindblad-Toh and G{\"o}ran Andersson and Leif Andersson},
  booktitle={PloS one},
  year={2014}
}
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… CONTINUE READING
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