New Insights into the Melanophilin (MLPH) Gene Affecting Coat Color Dilution in Rabbits.

ABSTRACT: Coat color dilution corresponds to a specific pigmentation phenotype that leads to a dilution of wild type pigments. It affects both eumelanin and pheomelanin containing melanosomes. The mode of inheritance of the dilution phenotype is autosomal recessive. Candidate gene approaches focused on the melanophilin (MLPH) gene highlighted two variants associated with the dilution phenotype in rabbits: The c.111-5C>A variant that is located in an acceptor splice site or the c.585delG variant, a frameshift mutation. On the transcript level, the skipping of two exons has been reported as the molecular mechanism responsible for the coat color dilution. To clarify, which of the two variants represents the causal variant, (i) we analyzed their allelic segregation by genotyping Castor and Chinch

SUBMITTER: Demars J 

PROVIDER: S-EPMC6162760 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature