Document Detail

A noncoding melanophilin gene (MLPH) SNP at the splice donor of exon 1 represents a candidate causal mutation for coat color dilution in dogs.
MedLine Citation:
PMID:  17519392     Owner:  NLM     Status:  MEDLINE    
Coat color dilution in several breeds of dog is characterized by a specific pigmentation phenotype and sometimes accompanied by hair loss and recurrent skin inflammation, the so-called color dilution alopecia or black hair follicular dysplasia. Coat color dilution (d) is inherited as a Mendelian autosomal recessive trait. In a previous study, MLPH polymorphisms showed perfect cosegregation with the dilute phenotype within breeds. However, different dilute haplotypes were found in different breeds, and no single polymorphism was identified in the coding sequence that was likely to be causative for the dilute phenotype. We resequenced the 5'-region of the canine MLPH gene and identified a strong candidate single nucleotide polymorphism within the nontranslated exon 1, which showed perfect association to the dilute phenotype in 65 dilute dogs from 7 different breeds. The A/G polymorphism is located at the last nucleotide of exon 1 and the mutant A-allele is predicted to reduce splicing efficiency 8-fold. An MLPH mRNA expression study using quantitative reverse transcriptase-polymerase chain reaction confirmed that dd animals had only about approximately 25% of the MLPH transcript compared with DD animals. These results provide preliminary evidence that the reported regulatory MLPH mutation might represent a causal mutation for coat color dilution in dogs.
Cord Drögemüller; Ute Philipp; Bianca Haase; Anne-Rose Günzel-Apel; Tosso Leeb
Publication Detail:
Type:  Journal Article     Date:  2007-05-22
Journal Detail:
Title:  The Journal of heredity     Volume:  98     ISSN:  0022-1503     ISO Abbreviation:  J. Hered.     Publication Date:  2007  
Date Detail:
Created Date:  2007-08-31     Completed Date:  2007-12-12     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375373     Medline TA:  J Hered     Country:  United States    
Other Details:
Languages:  eng     Pagination:  468-73     Citation Subset:  IM    
Institute of Genetics, Vetsuisse Faculty, University of Berne, Bremgartenstrasse 109a, 3001 Berne, Switzerland.
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MeSH Terms
Aging / genetics
Alternative Splicing
Carrier Proteins / genetics*
DNA Mutational Analysis
Dogs / genetics*
Gene Expression Regulation, Developmental
Hair Color / genetics*
Pigmentation / genetics*
Polymorphism, Single Nucleotide*
Reverse Transcriptase Polymerase Chain Reaction
Species Specificity
Reg. No./Substance:
0/Carrier Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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