Canine coat pigmentation genetics: a review

Brancalion, Lillian; Haase, Bianca; Wade, Claire M.

doi:10.1111/age.13154

Cited by 21 publications

(24 citation statements)

References 186 publications

(660 reference statements)

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“…The KITLG CNV spans only 6 kb (chr15: 29,821,450–29,832,950) and is located 152 kb upstream of the KIT ligand (KITLG) gene [ 27 ]. A variable copy number alters KITLG expression and subsequent pigment distribution throughout the coat colour in dogs and several other species [ 34 ].…”

Section: Introductionmentioning

confidence: 99%

KITLG Copy Number Germline Variations in Schnauzer Breeds and Their Relevance in Digital Squamous Cell Carcinoma in Black Giant Schnauzers

Aupperle‐Lellbach

Heidrich

Kehl

et al. 2023

Veterinary Sciences

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Copy number variations (CNVs) of the KITLG gene seem to be involved in the oncogenesis of digital squamous cell carcinoma (dSCC). The aims of this study were (1) to investigate KITLG CNV in giant (GS), standard (SS), and miniature (MS) schnauzers and (2) to compare KITLG CNV between black GS with and without dSCC. Blood samples from black GS (22 with and 17 without dSCC), black SS (18 with and 4 without dSSC; 5 unknown), and 50 MS (unknown dSSC status and coat colour) were analysed by digital droplet PCR. The results are that (1) most dogs had a copy number (CN) value > 4 (range 2.5–7.6) with no significant differences between GS, SS, and MS, and (2) the CN value in black GS with dSCC was significantly higher than in those without dSCC (p = 0.02). CN values > 5.8 indicate a significantly increased risk for dSCC, while CN values < 4.7 suggest a reduced risk for dSCC (grey area: 4.7–5.8). Diagnostic testing for KITLG CNV may sensitise owners to the individual risk of their black GS for dSCC. Further studies should investigate the relevance of KITLG CNV in SS and the protective effects in MS, who rarely suffer from dSCC.

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Section: Introductionmentioning

confidence: 99%

KITLG Copy Number Germline Variations in Schnauzer Breeds and Their Relevance in Digital Squamous Cell Carcinoma in Black Giant Schnauzers

Aupperle‐Lellbach

Heidrich

Kehl

et al. 2023

Veterinary Sciences

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“…Although mammalian pigmentation is highly conserved, genetic heterogeneity exists for many interspecies colour phenotypes (Cieslak et al 2011;Brancalion et al 2022). Over 688 pigmentation-associated genes are known (Baxter et al 2019).…”

Section: Introductionmentioning

confidence: 99%

A copy number variant near KITLG is associated with the roan pattern in alpacas

et al. 2023

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Context. The alpaca roan pattern is characterised by white and coloured fibre interspersed together, with a distinctive lighter body and darker extremities, and commonly is believed to be inherited in an autosomal dominant manner. It is of interest to the alpaca fibre industry as it causes 'contamination' of coloured fibre with white fibres, but cannot be detected in white or light fawn animals. Other livestock species, such as horses, cattle, goats, and pigs, exhibit comparable phenotypes, which are associated with candidate variant(s) in either KIT or KITLG. Aims. To identify a region or regions of the genome that is/are causative of the roan pattern in alpacas. Methods. We conducted a genome-wide association study (GWAS) by using 13 roan and 14 non-roan alpacas sampled from the USA, Australia, and New Zealand. Regions of genome-wide significance were examined for variants that correlated with the roan phenotype. Key results. A novel candidate single-nucleotype polymorphism (SNP; Super-Scaffold_15:39 742 851T > A), located 272 kb upstream of KITLG, was identified in 1 of 12 regions with genome-wide significant association (P ≤ 5 × 10 −8 ). We identified the candidate SNP-containing region (Super-Scaffold_15:39 742 096-39 887 419) to be a 145 kb copy number variant (CNV) that is likely to be a tandem duplication. All 13 roan alpacas had one or two copies of the roan-associated T allele and all except three non-roans had zero copies. Furthermore, we determined the Mendelian inheritance of copy number haplotypes and their allelic composition in a roan and a non-roan family. Conclusions. Our data support the hypothesised autosomal incomplete dominant mode of inheritance of the roan pattern in alpacas and suggests that the effect of the T allele CNV version is likely to be suppressed when in cis with the A allele CNV version. However, additional verification is required to validate the finding and determine the functional effect. Implications. Identification of the cause, or a marker for roan pattern will allow alpaca breeders to select for or against the roan pattern, even when the phenotype is hidden, and therefore increase production output and profitability.

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“…Activation of MC1R, a G‐protein coupled receptor with seven transmembrane domains, by its ligand, α ‐melanocyte stimulating hormone (MSH), induces the melanocytes to produce eumelanin, whereas inhibition of MC1R that occurs when the ASIP protein is expressed leads to the production of pheomelanin (Barsh et al, 2000 ; Robbins et al, 1993 ). Hence, genetic variants that alter either ASIP or MC1R activity can affect the synthesis of pheomelanin or eumelanin (Brancalion et al, 2022 ). Before these genes were discovered, they were called the A ( Agouti ) and E ( Extension ) loci.…”

Section: Introductionmentioning

confidence: 99%

Identification of two new recessive MC1R alleles in red‐coloured Evolèner cattle and other breeds

et al. 2022

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Sequence variations in the melanocortin‐1 receptor (MC1R) gene are associated with melanism in different animal species. Six functionally relevant alleles have been described in cattle to date. In a hypothesis‐free approach we performed a genome‐wide allelic association study with black, red and wild‐coloured cattle of three Alpine cattle breeds (Eringer, Evolèner and Valdostana), revealing a single significant association signal close to the MC1R gene. We searched for candidate causative variants by sequencing the entire coding sequence and identified two novel protein‐changing variants. We propose designating the mutant alleles at MC1R:c.424C>T as ev1 and at MC1R:c.263G>A as ev2. Both affect conserved amino acid residues in functionally important transmembrane domains (p.Arg142Cys and p.Ser88Asn). Both alleles segregate predominantly in the Swiss Evolèner breed. They occur in other European cattle breeds such as Abondance and Rotes Höhenvieh as well. We observed almost perfect association between the MC1R genotypes and the coat colour phenotype in a cohort of 513 black, red and wild‐coloured cattle. Animals carrying two copies of MC1R loss‐of‐function alleles or that were compound heterozygous for e, ev1, or ev2 have a red to dark red (chestnut‐like red) coat colour. These findings expand the spectrum of causal MC1R variants causing recessive red in cattle.

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Canine coat pigmentation genetics: a review

Cited by 21 publications

References 186 publications

KITLG Copy Number Germline Variations in Schnauzer Breeds and Their Relevance in Digital Squamous Cell Carcinoma in Black Giant Schnauzers

KITLG Copy Number Germline Variations in Schnauzer Breeds and Their Relevance in Digital Squamous Cell Carcinoma in Black Giant Schnauzers

A copy number variant near KITLG is associated with the roan pattern in alpacas

Identification of two new recessive MC1R alleles in red‐coloured Evolèner cattle and other breeds

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