Mutations in Domestic Animals Disrupting or Creating Pigmentation Patterns

The rich phenotypic diversity in coat and plumage color in domestic animals is primarily caused by direct selection on pigmentation phenotypes. Characteristic features are selection for viable alleles with no or only minor negative pleiotropic effects on other traits, and that alleles often evolve by accumulating several consecutive mutations in the same gene. This review provides examples of mutations that disrupt or create pigmentation patterns. White spotting patterns in domestic animals are often caused by mutations in KIT, microphthalmia transcription factor (MITF), or endothelin receptor B (EDNRB), impairing migration or survival of melanoblasts. Wild boar piglets are camouflage-colored and show a characteristic pattern of dark and light longitudinal stripes. This pattern is disrupted by mutations in Melanocortin 1 receptor (MC1R), implying that a functional MC1R receptor is required for wild-type camouflage color in pigs. The great majority of pig breeds carry MC1R mutations disrupting wild-type color and different mutations causing dominant black color were independently selected in European and Asian domestic pigs. The European allele evolved into a new allele creating a pigmentation pattern, black spotting, after acquiring a second mutation. This second mutation, an insertion of two C nucleotides in a stretch of 6 Cs, is somatically unstable and creates black spots after the open reading frame has been restored by somatic mutations. In the horse, mutations located in an enhancer downstream of TBX3 disrupt the Dun pigmentation pattern present in wild equids, a camouflage color where pigmentation on the flanks is diluted. A fascinating example of the creation of a pigmentation pattern is Sex-linked barring in chicken which is caused by the combined effect of both regulatory and coding mutations affecting the function of CDKN2A, a tumor suppressor gene associated with familial forms of melanoma in human. These examples illustrate how evolution of pigmentation patterns in domestic animals constitutes a model for evolutionary change in natural populations