Journal of Heredity Advance Access originally published online on June 5, 2009
Journal of Heredity 2009 100(Supplement 1):S66-S74; doi:10.1093/jhered/esp029
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This article appears in the following Journal of Heredity issue: Symposium Issue: Fourth International Conference on Advances in Canine and Feline Genomics and Inherited Diseases, Saint Malo, Brittany, France, 21-24 May 2008. [View the issue table of contents]
Original Articles |
MITF and White Spotting in Dogs: A Population Study
From the Department of Animal and Poultry Science, University of Saskatchewan, Saskatoon, SK, Canada
Address correspondence to S. M. Schmutz at the address above, or e-mail: sheila.schmutz{at}usask.ca.
This study was designed to determine if one of the variants found in our laboratory, or previously reported in microphthalmia-associated transcription factor (MITF), was associated with one or more spotting patterns in dogs. None of the rare variants found in the coding sequence consistently occurred in dogs of any particular spotting pattern. However, an insertion of a short interspersed nucleotide element (SINE) over 3000 bp 5' of the MITF-M start codon (Karlsson et al. 2007) did fit with random spotting in many dog breeds. Most (319/324) dogs of 45 breeds fit 1 of 2 inheritance patterns. All dogs that were homozygous for the SINE had white markings that either covered at least the ventral surface (mantle pattern) or most of the body (piebald or extreme white spotting). In most breeds, dogs heterozygous for the SINE insertion were solid colored or had minimal white, such as on the toes, but in some others, heterozygotes had white undersides, often with a white collar in the pattern called pseudo-Irish by Little (1957). However, none of the 15 dogs of 5 breeds in which all individuals have markings known as Irish spotting had the SINE insertion. Finally, we studied RNA expression in skin. The 2 MITF-M forms, M+ that contains an extra 18 bp that adds 6 amino acids between exons 5 and 6 and the M– form, were present. MITF-M is considered to be specific to melanocytes but was found in skin from a white Samoyed. A putative pseudogene containing exon 1M was also identified.
Key Words: CFA20 • coat color • Irish spotting • microphthalmia-associated transcription factor • piebald • white spotting
Corresponding Editor: Dr Francis Galibert
Received November 5, 2008
Revised March 18, 2009
Accepted April 17, 2009