Identification of a candidate genetic variant for the Himalayan color pattern in dogs

Bychkova, Elina; Viktorovskaya, Olga; Филиппова, Е. А.; Eliseeva, Zhanna; Барабанова, Л. В.; Sotskaya, Maria; Markov, A. V.

doi:10.1016/j.gene.2020.145212

Cited by 7 publications

(5 citation statements)

References 42 publications

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“…TYR variants are also associated with milder hypopigmentation phenotypes in several mammalian species. Acromelanism, a variant of albinism, results from temperature-dependent expression of tyrosinase, whereby pigment production is restricted to body extremities such as the face, feet and tail, where body temperature is lower (Bychkova et al 2021). This phenotype, widely termed Himalayan, presents as a pale body with dark 'points' and eye colour lightened to blue or red.…”

Section: Tyrosinase (Tyr)mentioning

confidence: 99%

“…A study by Bychkova et al . (2021) describes the first instance of canine coat colour variation associated with tyrosinase. In this paper, Himalayan coat colour in the Dachshund (Fig.…”

Section: White Markingsmentioning

confidence: 99%

“…(a) The Himalayan phenotype in the Dachshund, occurring as a result of a TYR variant (Bychkova et al . 2021). (b) Albinism in the Doberman Pinscher, occurring as a result of an SLC45A2 deletion (Winkler et al .…”

Section: White Markingsmentioning

confidence: 99%

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Canine coat pigmentation genetics: a review

2021

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Our understanding of canine coat colour genetics and the associated health implications is developing rapidly. To date, there are 15 genes with known roles in canine coat colour phenotypes. Many coat phenotypes result from complex and/or epistatic genetic interactions among variants within and between loci, some of which remain unidentified. Some genes involved in canine pigmentation have been linked to aural, visual and neurological impairments. Consequently, coat pigmentation in the domestic dog retains considerable ethical and economic interest. In this paper we discuss coat colour phenotypes in the domestic dog, the genes and variants responsible for these phenotypes and any proven coat colour-associated health effects.

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Section: Tyrosinase (Tyr)mentioning

confidence: 99%

“…A study by Bychkova et al . (2021) describes the first instance of canine coat colour variation associated with tyrosinase. In this paper, Himalayan coat colour in the Dachshund (Fig.…”

Section: White Markingsmentioning

confidence: 99%

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Canine coat pigmentation genetics: a review

2021

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“…3). A SNP is detected in dog TYR gene at position c.230 G>A leads to an amino acid substitution of arginine to glutamine at position 77 (p.R77Q) that is associated with Hemalaiin coat color in dogs (light brown phenotype) (Bychkova et al 2021). Another report shows that a missense mutation at position c.235 T>C of the TYR gene substituted a serin by proline at position 79 (p.S79P) leads to diluted coat color in rats (Kuramoto et al 2010).…”

Section: Discussionmentioning

confidence: 99%

Variants in the Tyrosinase (TYR) Gene are Associated with Coat Color in the Dromedary (Camelus Dromedarius)

2023

Int J Vet Sci

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Coat color genetics has been studied in many mammalian species. However, in the dromedary camel, there are only few efforts reported three genes that associated with coat color (MC1R, ASIP and KIT). Saudi dromedaries vary in color from white, light brown, brown, dark brown and black. Tyrosinase (encoded by TYR gene) is a key enzyme responsible for converting tyrosine to melanin in the melanin pathway. TYR is known as the albino locus as it causes albinism in several mammalian species. TYR variants are also associated with diluted coat color phenotypes in rabbits and mice. Here, we investigated the possibility of TYR contribution in the dromedary coat color variations. Dromedary TYR exon 1 gene was studies in the dromedary and two SNPs were detected at position c.200 C>T associated with shoulder height in one study and suggested to be associated with coat color and c.523 T>C associated with black dromedaries. Here, we sequenced TYR all coding regions and identified 3 single nucleotide polymorphisms (SNPs) in exon 1, 2 and 3 respectively. Our finding shows that TYR c.200 C>T is significantly associated with light brown coat color phenotype in the dromedary (P<0.05) suggesting codominant inheritance. This variant substitutes a proline with leucine at position 67 (p.P67L). Two synonymous SNPs variants were discovered in exon 2 c.861 G>A and exon3 c.950 C>T. The finding will contribute to the generation of coat color genetic test in the species.

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“…Canine geneticists have previously hypothesized that TYR mutations might also produce pheomelanin dilution in dogs [ 60 ], but earlier candidate-gene studies of exonic variants in the gene did not uncover any associated variants [ 21 ]. However, the hypothesis that TYR variants can modulate coat pheomelanin intensity in dogs was finally supported when a recent study identified a missense mutation in the TYR gene as causal for a unique temperature-dependent pigment dilution phenotype (acromelanism) in a single dog [ 61 ]. Our study further solidifies this hypothesis and provides the first documented link between canine TYR variants and non temperature-dependent coat pheomelanin intensity variation, although fine mapping and functional validation will be required to definitively identify a causal variant.…”

Section: Discussionmentioning

confidence: 99%

Five genetic variants explain over 70% of hair coat pheomelanin intensity variation in purebred and mixed breed domestic dogs

Slavney¹,

Kawakami²,

Jensen³

et al. 2021

PLoS ONE

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In mammals, the pigment molecule pheomelanin confers red and yellow color to hair, and the intensity of this coloration is caused by variation in the amount of pheomelanin. Domestic dogs exhibit a wide range of pheomelanin intensity, ranging from the white coat of the Samoyed to the deep red coat of the Irish Setter. While several genetic variants have been associated with specific coat intensity phenotypes in certain dog breeds, they do not explain the majority of phenotypic variation across breeds. In order to gain further insight into the extent of multigenicity and epistatic interactions underlying coat pheomelanin intensity in dogs, we leveraged a large dataset obtained via a direct-to-consumer canine genetic testing service. This consisted of genome-wide single nucleotide polymorphism (SNP) genotype data and owner-provided photos for 3,057 pheomelanic mixed breed and purebred dogs from 63 breeds and varieties spanning the full range of canine coat pheomelanin intensity. We first performed a genome-wide association study (GWAS) on 2,149 of these dogs to search for additional genetic variants that underlie intensity variation. GWAS identified five loci significantly associated with intensity, of which two (CFA15 29.8 Mb and CFA20 55.8 Mb) replicate previous findings and three (CFA2 74.7 Mb, CFA18 12.9 Mb, CFA21 10.9 Mb) have not previously been reported. In order to assess the combined predictive power of these loci across dog breeds, we used our GWAS data set to fit a linear model, which explained over 70% of variation in coat pheomelanin intensity in an independent validation dataset of 908 dogs. These results introduce three novel pheomelanin intensity loci, and further demonstrate the multigenic nature of coat pheomelanin intensity determination in domestic dogs.

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Identification of a candidate genetic variant for the Himalayan color pattern in dogs

Cited by 7 publications

References 42 publications

Canine coat pigmentation genetics: a review

Canine coat pigmentation genetics: a review

Variants in the Tyrosinase (TYR) Gene are Associated with Coat Color in the Dromedary (Camelus Dromedarius)

Five genetic variants explain over 70% of hair coat pheomelanin intensity variation in purebred and mixed breed domestic dogs

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