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      An Agouti-Signaling-Protein Mutation is Strongly Associated with Melanism in European Roe Deer ( Capreolus capreolus)

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          Abstract

          Although the European roe deer ( Capreolus capreolus) population of North-West Germany has a remarkable number of melanistic specimens between 10% and 25%, the underlying genetic mutation-causing melanism is still unknown. We used a gene targeting approach focusing on MC1R and ASIP as important genes of coat coloration. Overall, 1384 bp of MC1R and 2039 bp of ASIP were sequenced in 24 specimens and several SNPs were detected. But only the ASIP-SNP c.33G>T completely segregated both phenotypes leading to the amino acid substitution p.Leu11Phe. The SNP was further evaluated in additional 471 samples. Generally, all black specimens ( n = 33) were homozygous TT, whereas chestnut individuals were either homozygote GG ( n = 436) or heterozygote GT ( n = 26). Considering the fact that all melanistic animals shared two mutated alleles of the strongly associated SNP, we concluded that melanism is inherited in a recessive mode in European roe deer.

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          Genetics, development and evolution of adaptive pigmentation in vertebrates.

          H E Hoekstra (2006)
          The study of pigmentation has played an important role in the intersection of evolution, genetics, and developmental biology. Pigmentation's utility as a visible phenotypic marker has resulted in over 100 years of intense study of coat color mutations in laboratory mice, thereby creating an impressive list of candidate genes and an understanding of the developmental mechanisms responsible for the phenotypic effects. Variation in color and pigment patterning has also served as the focus of many classic studies of naturally occurring phenotypic variation in a wide variety of vertebrates, providing some of the most compelling cases for parallel and convergent evolution. Thus, the pigmentation model system holds much promise for understanding the nature of adaptation by linking genetic changes to variation in fitness-related traits. Here, I first discuss the historical role of pigmentation in genetics, development and evolutionary biology. I then discuss recent empirically based studies in vertebrates, which rely on these historical foundations to make connections between genotype and phenotype for ecologically important pigmentation traits. These studies provide insight into the evolutionary process by uncovering the genetic basis of adaptive traits and addressing such long-standing questions in evolutionary biology as (1) are adaptive changes predominantly caused by mutations in regulatory regions or coding regions? (2) is adaptation driven by the fixation of dominant mutations? and (3) to what extent are parallel phenotypic changes caused by similar genetic changes? It is clear that coloration has much to teach us about the molecular basis of organismal diversity, adaptation and the evolutionary process.
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            Molecular and evolutionary history of melanism in North American gray wolves.

            Badri Padhukasahasram, Sophie Candille, Hua Tang … (2009)
            Morphological diversity within closely related species is an essential aspect of evolution and adaptation. Mutations in the Melanocortin 1 receptor (Mc1r) gene contribute to pigmentary diversity in natural populations of fish, birds, and many mammals. However, melanism in the gray wolf, Canis lupus, is caused by a different melanocortin pathway component, the K locus, that encodes a beta-defensin protein that acts as an alternative ligand for Mc1r. We show that the melanistic K locus mutation in North American wolves derives from past hybridization with domestic dogs, has risen to high frequency in forested habitats, and exhibits a molecular signature of positive selection. The same mutation also causes melanism in the coyote, Canis latrans, and in Italian gray wolves, and hence our results demonstrate how traits selected in domesticated species can influence the morphological diversity of their wild relatives.
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              A -defensin mutation causes black coat color in domestic dogs.

              Gregory Barsh, W. A. Nix, P. Thompson … (2007)
              Genetic analysis of mammalian color variation has provided fundamental insight into human biology and disease. In most vertebrates, two key genes, Agouti and Melanocortin 1 receptor (Mc1r), encode a ligand-receptor system that controls pigment type-switching, but in domestic dogs, a third gene is implicated, the K locus, whose genetic characteristics predict a previously unrecognized component of the melanocortin pathway. We identify the K locus as beta-defensin 103 (CBD103) and show that its protein product binds with high affinity to the Mc1r and has a simple and strong effect on pigment type-switching in domestic dogs and transgenic mice. These results expand the functional role of beta-defensins, a protein family previously implicated in innate immunity, and identify an additional class of ligands for signaling through melanocortin receptors.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Genes (Basel)
                Journal ID (iso-abbrev): Genes (Basel)
                Journal ID (publisher-id): genes
                Title: Genes
                Publisher: MDPI
                ISSN (Electronic): 2073-4425
                Publication date (Electronic): 11 June 2020
                Publication date Collection: June 2020
                Volume: 11
                Issue: 6
                Electronic Location Identifier: 647
                Affiliations
                [1 ]Albrecht Daniel Thaer-Institute, Faculty of Life Sciences, Humboldt-University Berlin, 10099 Berlin, Germany; monika.reissmann@ 123456agrar.hu-berlin.de
                [2 ]Wildlife Research Institute, 53229 Bonn, Germany; lutz@ 123456pscherrer.de
                [3 ]Leibniz-Institute for Zoo & Wildlife Research, Department of Evolutionary Genetics, 10315 Berlin, Germany; lieckfeldt@ 123456izw-berlin.de
                [4 ]Institute of Animal Breeding and Husbandry, Kiel University, 24098 Kiel, Germany; edsonsandovalc@ 123456outlook.com
                Author notes
                [* ]Correspondence: ludwig@ 123456izw-berlin.de ; Tel.: +49-30-5168-312
                Author information
                https://orcid.org/0000-0003-3418-6344
                https://orcid.org/0000-0002-0840-8225
                https://orcid.org/0000-0001-7249-9953
                Article
                Publisher ID: genes-11-00647
                DOI: 10.3390/genes11060647
                PMC ID: 7349051
                PubMed ID: 32545389
                SO-VID: 76810cea-59c1-4c3c-b77c-8859386fb0b1
                Copyright © © 2020 by the authors.
                License:

                Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

                History
                Date received : 21 April 2020
                Date accepted : 08 June 2020
                Categories
                Subject: Article

                Keywords: coat color,melanistic,cervid,asip,mc1r
                Data availability:
                Keywords: coat color, melanistic, cervid, asip, mc1r

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