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Mutations in Domestic Animals Disrupting or Creating Pigmentation Patterns

Andersson, Leif (2020). Mutations in Domestic Animals Disrupting or Creating Pigmentation Patterns. Frontiers in Ecology and Evolution. 8 , 116 , 1-8
[Article Review/Survey]

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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.

Authors/Creators:Andersson, Leif
Title:Mutations in Domestic Animals Disrupting or Creating Pigmentation Patterns
Series Name/Journal:Frontiers in Ecology and Evolution
Year of publishing :2020
Article number:116
Number of Pages:8
Publication Type:Article Review/Survey
Article category:Scientific peer reviewed
Version:Published version
Copyright:Creative Commons: Attribution 4.0
Full Text Status:Public
Subjects:(A) Swedish standard research categories 2011 > 4 Agricultural Sciences > 404 Agricultural Biotechnology > Genetics and Breeding
(A) Swedish standard research categories 2011 > 1 Natural sciences > 106 Biological Sciences (Medical to be 3 and Agricultural to be 4) > Evolutionary Biology
Keywords:pigmentation, domestic animals, patterning, domestication, selection
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Additional ID:
Type of IDID
Web of Science (WoS)000537241500001
ID Code:17217
Faculty:VH - Faculty of Veterinary Medicine and Animal Science
Department:(VH) > Dept. of Animal Breeding and Genetics
Deposited By: SLUpub Connector
Deposited On:10 Jul 2020 08:07
Metadata Last Modified:15 Jan 2021 19:16

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