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MITF and White Spotting in Dogs: A Population Study

MITF and White Spotting in Dogs: A Population Study 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Heredity Oxford University Press

MITF and White Spotting in Dogs: A Population Study

Journal of Heredity , Volume 100 (suppl_1) – Jun 5, 2009

 
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References (36)

Publisher
Oxford University Press
Copyright
The American Genetic Association. 2009. All rights reserved. For permissions, please email: journals.permissions@oxfordjournals.org.
ISSN
0022-1503
eISSN
1465-7333
DOI
10.1093/jhered/esp029
Publisher site
See Article on Publisher Site

Abstract

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.

Journal

Journal of HeredityOxford University Press

Published: Jun 5, 2009

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