Mutations in the Melanocortin 1 Receptor, .BETA.-Defensin103 and Agouti Signaling Protein Genes, and Their Association with Coat Color Phenotypes in Akita-Inu Dogs

Oguro-Okano, Mieko; Honda, Mioko; Yamazaki, Kaoru; Okano, Kiyoshi

doi:10.1292/jvms.10-0439

Cited by 22 publications

(16 citation statements)

References 19 publications

(29 reference statements)

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“…Strong connections between c-KIT and CAD in dogs [59, 60], as well as psoriasis [61] and asthma in humans [62] has also been reported. White Akita-inu dogs [63] and yellow Labrador and golden retrievers [64, 65] have been reported to be homozygous for the R306ter mutation of MC1R , a gene found in melanocytes. MC1R has also been reported to inhibit inflammation in atopic mice [66, 67].…”

Section: Discussionmentioning

confidence: 99%

Environmental and phenotype-related risk factors for owner-reported allergic/atopic skin symptoms and for canine atopic dermatitis verified by veterinarian in a Finnish dog population

2017

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The aim of this cross-sectional study was to observe whether environmental factors and phenotypic traits are associated with owner-reported skin problems and with veterinary diagnosed canine atopic dermatitis (CAD). Data were collected using the validated online DOGRISK questionnaire. Out of the data that the questionnaire provides for analysis, focus was first turned towards addressing questions regarding ‘Atopy/allergy (skin symptoms)’ using a total of 8643 dogs: 1585 dogs with owner-reported allergic/atopic skin symptoms and 7058 dogs without. A subsequent analysis compared dogs with veterinary-verified CAD (n = 322) as a case group against the 7058 dogs without owner-reported skin symptoms. The association between 21 factors related to the environment, canine phenotypes and breed groups within both populations were analysed using univariable and multivariable logistic regression. The environmental factors that showed a significant inverse association with the risk of owner-reported allergic/atopic skin symptoms were as following: whether the dog was living in a detached house, whether there were other dogs in the household, and whether the dog was born in the current household. Having over 50% white colour in the coat and living in an extremely clean household were significantly associated with an increased risk of owner-reported allergic/atopic skin symptoms. The five breeds demonstrating the highest proportion of owner-reported allergic/atopic skin symptoms were West Highland white terrier, Boxer, English bulldog, Dalmatian and French bulldog. The Fédération Cynologique Internationale dog breed groups 3 (Terriers) and 6 (Scent hounds and related breeds) showed a significantly higher risk for owner-reported allergic/atopic skin symptoms than mixed breed dogs. In the second population, the inverse association was observed between the risk of CAD and the presence of other dogs in the household, and whether the dog had been born in the current household. The results indicate that some environmental factors and canine phenotypes are associated with CAD and owner-reported skin symptoms, but they still do not prove causality.

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Section: Discussionmentioning

confidence: 99%

Environmental and phenotype-related risk factors for owner-reported allergic/atopic skin symptoms and for canine atopic dermatitis verified by veterinarian in a Finnish dog population

2017

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“…2004; Oguro‐Okano et al. 2011). The cream coat of hypopigmented fur seals is most likely the result of a dilution of pheomelanin, as has been suggested for the hypopigmented Kermode bear and the Labrador breed of domestic dogs (Newton et al.…”

Section: Discussionmentioning

confidence: 99%

“…2000; Oguro‐Okano et al. 2011). Genetic variation at the MC1R has also been associated with melanic coat color variation in natural populations of around 20 species belonging to three mammalian orders, five avian orders, and lizards (Hoekstra 2006).…”

Section: Introductionmentioning

confidence: 99%

Born blonde: a recessive loss‐of‐function mutation in the melanocortin 1 receptor is associated with cream coat coloration inAntarctic fur seals

Peters

Humble

Kröcker

et al. 2016

Ecology and Evolution

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Although the genetic basis of color variation has been extensively studied in humans and domestic animals, the genetic polymorphisms responsible for different color morphs remain to be elucidated in many wild vertebrate species. For example, hypopigmentation has been observed in numerous marine mammal species but the underlying mutations have not been identified. A particularly compelling candidate gene for explaining color polymorphism is the melanocortin 1 receptor (MC1R), which plays a key role in the regulation of pigment production. We therefore used Antarctic fur seals (Arctocephalus gazella) as a highly tractable marine mammal system with which to test for an association between nucleotide variation at the MC1R and melanin‐based coat color phenotypes. By sequencing 70 wild‐type individuals with dark‐colored coats and 26 hypopigmented individuals with cream‐colored coats, we identified a nonsynonymous mutation that results in the substitution of serine with phenylalanine at an evolutionarily highly conserved structural domain. All of the hypopigmented individuals were homozygous for the allele coding for phenylalanine, consistent with a recessive loss‐of‐function allele. In order to test for cryptic population structure, which can generate artefactual associations, and to evaluate whether homozygosity at the MC1R could be indicative of low genome‐wide heterozygosity, we also genotyped all of the individuals at 50 polymorphic microsatellite loci. We were unable to detect any population structure and also found that wild‐type and hypopigmented individuals did not differ significantly in their standardized multilocus heterozygosity. Such a lack of association implies that hypopigmented individuals are unlikely to suffer disproportionately from inbreeding depression, and hence, we have no reason to believe that they are at a selective disadvantage in the wider population.

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“…However, to date there has been no direct data in reptiles such as gene knock-out experiments to demonstrate their importance to overall survival, development and resistance to infection, as has been done in mice [71]. There has been some suggestion that β-defensin peptides are associated with fur color in dogs [72,73], but again no studies of this kind have yet been done on reptiles. This area of research presents many opportunities for scientists to explore the role of antimicrobial peptides in these animals.…”

Section: Antimicrobial Peptides Of Reptilesmentioning

confidence: 99%

Antimicrobial Peptides in Reptiles

Hoek

2014

Pharmaceuticals

109

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Reptiles are among the oldest known amniotes and are highly diverse in their morphology and ecological niches. These animals have an evolutionarily ancient innate-immune system that is of great interest to scientists trying to identify new and useful antimicrobial peptides. Significant work in the last decade in the fields of biochemistry, proteomics and genomics has begun to reveal the complexity of reptilian antimicrobial peptides. Here, the current knowledge about antimicrobial peptides in reptiles is reviewed, with specific examples in each of the four orders: Testudines (turtles and tortosises), Sphenodontia (tuataras), Squamata (snakes and lizards), and Crocodilia (crocodilans). Examples are presented of the major classes of antimicrobial peptides expressed by reptiles including defensins, cathelicidins, liver-expressed peptides (hepcidin and LEAP-2), lysozyme, crotamine, and others. Some of these peptides have been identified and tested for their antibacterial or antiviral activity; others are only predicted as possible genes from genomic sequencing. Bioinformatic analysis of the reptile genomes is presented, revealing many predicted candidate antimicrobial peptides genes across this diverse class. The study of how these ancient creatures use antimicrobial peptides within their innate immune systems may reveal new understandings of our mammalian innate immune system and may also provide new and powerful antimicrobial peptides as scaffolds for potential therapeutic development.

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Mutations in the Melanocortin 1 Receptor, .BETA.-Defensin103 and Agouti Signaling Protein Genes, and Their Association with Coat Color Phenotypes in Akita-Inu Dogs

Cited by 22 publications

References 19 publications

Environmental and phenotype-related risk factors for owner-reported allergic/atopic skin symptoms and for canine atopic dermatitis verified by veterinarian in a Finnish dog population

Environmental and phenotype-related risk factors for owner-reported allergic/atopic skin symptoms and for canine atopic dermatitis verified by veterinarian in a Finnish dog population

Born blonde: a recessive loss‐of‐function mutation in the melanocortin 1 receptor is associated with cream coat coloration inAntarctic fur seals

Antimicrobial Peptides in Reptiles

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