Two cysteine substitutions in the MC1R generate the blue variant of the arctic fox (Alopex lagopus) and prevent expression of the white winter coat

Våge, Dag Inge; Fuglei, Eva; Snipstad, Kristin; J, Beheim; Landsem, Veslemøy Malm; Klungland, Helge

doi:10.1016/j.peptides.2004.11.040

Cited by 49 publications

(45 citation statements)

References 25 publications

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“…The same pattern is reflected in the higher occurrence of blue foxes in coastal habitats and white foxes in lemming habitats, which has been interpreted as a possible adaptation to the snow cover (Braestrup 1941;Vibe 1967). Since fur colour is determined by only three loci, with the blue allele dominant over the white one (Adalsteinsson et al 1987;Våge et al 2005), divergence may not be reflected in the overall genetic structure (e.g., Poelstra et al 2014). In agreement with this, the main conclusions of other papers covering this theme have been that dispersal and gene flow is a more powerful process than selection in determining large-scale genetic structure Carmichael, Krizan et al 2007;Geffen et al 2007;Norén, Carmichael, Dalén et al 2011).…”

Section: Large-scale Genetic Structure: Dispersal and Selectionmentioning

confidence: 89%

Evolution, ecology and conservation—revisiting three decades of Arctic fox population genetic research

et al. 2017

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Three decades have passed since the Arctic fox (Vulpes lagopus) was first put into a population genetic perspective. With the aim of addressing how microevolution operates on different biological levels, we here review genetic processes in the Arctic fox at the level of species, populations and individuals. Historical and present dispersal patterns, especially in the presence of sea ice, are the most powerful factors that create a highly homogeneous genetic structure across the circumpolar distribution, with low detectable divergence between the coastal and lemming ecotypes. With dispersal less pronounced or absent, other processes emerge; populations that are currently isolated, for example, because of the lack of sea ice, are genetically divergent. Moreover, small populations generally display signatures of genetic drift, inbreeding, inbreeding depression and, under specific situations, hybridization with domestic fox breeds. Mating system and social organization in the Arctic fox appear to be determined by the ecological context, with complex mating patterns and social groups being more common under resource-rich conditions. In isolated populations, complex social groups and inbreeding avoidance have been documented. We emphasize the value of genetic data to decipher many previously unknown aspects of Arctic fox biology, while these data also raise numerous questions that remain unanswered. Pronounced intraspecific ecological variation makes the Arctic fox an ideal study organism for population genetic processes and the emergence of functional genomics will generate an even deeper understanding of evolution, ecology and conservation issues for several species.

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Section: Large-scale Genetic Structure: Dispersal and Selectionmentioning

confidence: 89%

Evolution, ecology and conservation—revisiting three decades of Arctic fox population genetic research

et al. 2017

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“…Gain of function and loss of function mutations of the MC1R gene determining dominant or partially dominant black/dark and recessive or partially recessive red/yellow/pale coat colour phenotypes, respectively, have been described in several mammals, such as mice (Robbins et al, 1993), humans (Valverde et al, 1995), cattle (Klungland et al, 1995;Joerg et al, 1996;Rouzaud et al, 2000), pigs (Kijas et al, , 2001, horses (Marklund et al, 1996), foxes (Våge et al, 1997;Våge et al, 2005), beach and pocket mice (Hoekstra et al, 2006;Nachman et al, 2003), rabbits (Fontanesi et al, 2006), and goats (Fontanesi et al, 2009a).…”

Section: Introductionmentioning

confidence: 99%

Sequence characterization of the melanocortin 1 receptor (MC1R) gene in sheep with different coat colours and identification of the putative e allele at the ovine Extension locus

Fontanesi

Beretti

Riggio

et al. 2010

Small Ruminant Research

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a b s t r a c tSequence of the melanocortin 1 receptor (MC1R) gene (the Extension locus) was obtained from a panel of 73 animals belonging to 9 Italian sheep breeds or populations (Appenninica, Bergamasca, Comisana, Cornigliese-like, Delle Langhe, Massese, Merinizzata Italiana, Sarda and Valle del Belice) with different coat colours. Evaluation of the identified polymorphisms on this phenotype was reported with in silico predictions and comparative approaches within and across breeds and across species. Five novel single nucleotide polymorphisms (SNPs), organized in three haplotypes, were detected. Another haplotype, including the two missense mutations already described for the E D allele, was identified in few Massese sheep. One SNP (c.199C > T) caused a predicted amino acid substitution (p.R67C) in a highly conserved position of the first intracellular loop of the MC1R protein. The same substitution causes recessive pheomelanism in other species. We propose that the p.67C allele represents the recessive e allele at the ovine Extension series that was, so far, not completely recognized in sheep by classical genetic studies. This polymorphism was analysed in a total of 388 sheep of the 9 investigated breeds. The p.67C allele was identified only in the Valle del Belice breed (allele frequency of 21.3% in 176 analysed animals of this breed) in which the presence of epistatic white-determining loci might mask, at least in part, its effects. Confirming the effect of this novel allele on coat colour will lead to new perspectives on the composition of specialized coloured sheep lines.

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“…Mutations of the MC1R gene associated with different coat colours have been described in several species (mice [4], humans [8], guinea pigs [9], cattle [10-12], pigs [13,14], horses [15], sheep [16], goats [17], dogs [18,19], foxes [20,21], bears [22], felids [23], pocket and beach mice [24,25], squirrels [26], chickens [27], Japanese quails [28], bananaquits [29], guinea fowl [30] and reptiles [31]) in which gain of function mutations produce black/dark coat colour, whereas loss of function mutations usually cause yellow/red coat colour.…”

Section: Introductionmentioning

confidence: 99%

A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with the Japanese brindling coat colour in rabbits (Oryctolagus cuniculus)

et al. 2010

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BackgroundIn the domestic rabbit (Oryctolagus cuniculus), classical genetic studies have identified five alleles at the Extension locus: ED (dominant black), ES (steel, weaker version of ED), E (wild type, normal extension of black), eJ(Japanese brindling, mosaic distribution of black and yellow) and e (non-extension of black, yellow/red with white belly). Sequencing almost the complete coding sequence (CDS) of the rabbit MC1R gene, we recently identified two in-frame deletions associated with dominant black (c.280_285del6; alleles ED or ES) and recessive red (c.304_333del30; allele e) coat colours. It remained to characterize the eJallele whose phenotypic effect is similar to the Orange and Sex-linked yellow loci of cat and Syrian hamster.ResultsWe sequenced the whole CDS in 25 rabbits of different coat colours including 10 Japanese and 10 Rhinelander (tricolour) rabbits and identified another 6 bp-in frame deletion flanked by a G > A transition in 5' (c.[124G>A;125_130del6]) that was present in all animals with Japanese brindling coat colour and pattern. These mutations eliminate two amino acids in the first transmembrane domain and, in addition, cause an amino acid substitution at position 44 of the wild type sequence. Genotyping 371 rabbits of 31 breeds with different coat colour this allele (eJ) was present in homozygous state in Japanese, Rhinelander and Dutch tricolour rabbits only (except one albino rabbit). Rabbits with eJ/eJ genotype were non fixed at the non-agouti mutation we previously identified in the ASIP gene. Segregation in F1 and F2 families confirmed the order of dominance already determined by classical genetic experiments with a possible dose effect evident comparing eJ/eJ and eJ/e animals. MC1R mRNA was expressed in black hair skin regions only.ConclusionsThe c.[124A;125_130del6] allele may be responsible for a MC1R variant determining eumelanin production in the black areas. However, the mechanism determining the presence of both red and black hairs in the same animal seems more complex. Expression analyses of the c.[124A;125_130del6] allele suggest that MC1R transcription may be regulated epigenetically in rabbits with the Japanese brindling phenotype. Further studies are needed to clarify this issue.

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Two cysteine substitutions in the MC1R generate the blue variant of the arctic fox (Alopex lagopus) and prevent expression of the white winter coat

Cited by 49 publications

References 25 publications

Evolution, ecology and conservation—revisiting three decades of Arctic fox population genetic research

Evolution, ecology and conservation—revisiting three decades of Arctic fox population genetic research

Sequence characterization of the melanocortin 1 receptor (MC1R) gene in sheep with different coat colours and identification of the putative e allele at the ovine Extension locus

A composite six bp in-frame deletion in the melanocortin 1 receptor (MC1R) gene is associated with the Japanese brindling coat colour in rabbits (Oryctolagus cuniculus)

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