Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.

ABSTRACT: During fetal development neural-crest-derived melanoblasts migrate across the entire body surface and differentiate into melanocytes, the pigment-producing cells. Alterations in this precisely regulated process can lead to white spotting patterns. White spotting patterns in horses are a complex trait with a large phenotypic variance ranging from minimal white markings up to completely white horses. The "splashed white" pattern is primarily characterized by an extremely large blaze, often accompanied by extended white markings at the distal limbs and blue eyes. Some, but not all, splashed white horses are deaf. We analyzed a Quarter Horse family segregating for the splashed white coat color. Genome-wide linkage analysis in 31 horses gave a positive LOD score of 1.6 in a region on chromosome

SUBMITTER: Hauswirth R 

PROVIDER: S-EPMC3325211 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature