A complex genomic rearrangement involving the endothelin 3 locus causes dermal hyperpigmentation in the chicken.

ABSTRACT: Dermal hyperpigmentation or Fibromelanosis (FM) is one of the few examples of skin pigmentation phenotypes in the chicken, where most other pigmentation variants influence feather color and patterning. The Silkie chicken is the most widespread and well-studied breed displaying this phenotype. The presence of the dominant FM allele results in extensive pigmentation of the dermal layer of skin and the majority of internal connective tissue. Here we identify the causal mutation of FM as an inverted duplication and junction of two genomic regions separated by more than 400 kb in wild-type individuals. One of these duplicated regions contains endothelin 3 (EDN3), a gene with a known role in promoting melanoblast proliferation. We show that EDN3 expression is increased in the developing Silkie e

SUBMITTER: Dorshorst B 

PROVIDER: S-EPMC3245302 | biostudies-literature | 2011 Dec

REPOSITORIES: biostudies-literature