Novel variants in the <i><scp>KIT</scp></i> and <i><scp>PAX</scp>3</i> genes in horses with white‐spotted coat colour phenotypes

Hauswirth, Regula; Jude, Rony; Haase, Bianca; Bellone, Rebecca R.; Archer, Sheila; Holl, Heather M.; Brooks, Samantha A.; Tozaki, Teruaki; Penedo, M. C. T.; Rieder, Stefan; Leeb, Tosso

doi:10.1111/age.12057

Cited by 69 publications

(79 citation statements)

References 15 publications

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“…Blue eyes are commonly associated with white markings in a variety of species. Several of the equine KIT variants also show considerable variation in the degree of spotting, including horses with white found only on the head and legs [25,31,32]. Intense selection for the degree of white spotting in the mouse has demonstrated that a large number of additive and modifying loci cumulatively contribute to overall color, in addition to non-genetic factors [33].…”

Section: Resultsmentioning

confidence: 99%

A Frameshift Mutation in KIT is Associated with White Spotting in the Arabian Camel

Holl

Isaza

Mohamoud

et al. 2017

Genes

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While the typical Arabian camel is characterized by a single colored coat, there are rare populations with white spotting patterns. White spotting coat patterns are found in virtually all domesticated species, but are rare in wild species. Theories suggest that white spotting is linked to the domestication process, and is occasionally associated with health disorders. Though mutations have been found in a diverse array of species, fewer than 30 genes have been associated with spotting patterns, thus providing a key set of candidate genes for the Arabian camel. We obtained 26 spotted camels and 24 solid controls for candidate gene analysis. One spotted and eight solid camels were whole genome sequenced as part of a separate project. The spotted camel was heterozygous for a frameshift deletion in KIT (c.1842delG, named KITW1 for White spotting 1), whereas all other camels were wild-type (KIT+/KIT+). No additional mutations unique to the spotted camel were detected in the EDNRB, EDN3, SOX10, KITLG, PDGFRA, MITF, and PAX3 candidate white spotting genes. Sanger sequencing of the study population identified an additional five KITW1/KIT+ spotted camels. The frameshift results in a premature stop codon five amino acids downstream, thus terminating KIT at the tyrosine kinase domain. An additional 13 spotted camels tested KIT+/KIT+, but due to phenotypic differences when compared to the KITW1/KIT+ camels, they likely represent an independent mutation. Our study suggests that there are at least two causes of white spotting in the Arabian camel, the newly described KITW1 allele and an uncharacterized mutation.

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Section: Resultsmentioning

confidence: 99%

A Frameshift Mutation in KIT is Associated with White Spotting in the Arabian Camel

Holl

Isaza

Mohamoud

et al. 2017

Genes

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“…EDNRB and TRPM1. New mutations, particularly at the KIT and PAX3 loci, are continuously being revealed (Hauswirth et al 2013). The Hucul horses have not been molecularly studied with regard to the genes responsible for the coat colour.…”

Section: Discussionmentioning

confidence: 99%

“…Plenty of mutant alleles at or near the KIT locus were reported to cause a large repertoire of either completely white horses or more or less extensive white-spotting patterns. Apart from the tobiano, the KIT causes sabino-1, roan, doi: 10.17221/7905-CJAS and a few dominant white variants (Haase et al 2009a;Hauswirth et al 2012Hauswirth et al , 2013.…”

Section: Introductionmentioning

confidence: 99%

Crypto-tobiano horses in Hucul breed

Stachurska¹,

Jansen²

2015

Czech J. Anim. Sci.

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ABSTRACT:The aim of the study was to verify the hypothesis that the crypto-tobiano horses which do not exhibit the full tobiano white-spotting pattern nonetheless transmit the dominant To gene to the progeny. The study was conducted on the Hucul population. Seven horses with white patches on their limbs, and with or without a small patch on the head, neck or trunk, were selected. At least one of the parents of the horses had to be tobiano or crypto-tobiano. Occasionally such horses produced a tobiano foal from a crossing with a solidcoloured horse. The white patches of the horses used in our study were divided into categories. To identify the To gene, DNA was tested in the Animal Genetics Laboratory (UK). The ratio of non-tobiano, crypto-tobiano, and tobiano foals born from 36 matings of the studied horses was analyzed. The study substantiates the occurrence of crypto-tobiano horses in the Hucul breed. Horses that have patches on their limbs as well as a small white or intermingled patch on the head, neck or trunk, are crypto-tobianos, although crypto-tobianos may have no white on the head, neck, and trunk. The crypto-tobiano pattern occurs in horses which have a tobiano parent or grandparent. The results suggest that the activity of an inhibitor gene suppresses the To allele penetrance in the crypto-tobiano horses. As in the case of many white-spotting patterns, the presence of the To gene in a horse's genotype should be documented by DNA testing or test matings.

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“…A study on Dalmatian dogs (Stritzel et al 2009) Also in horses, MITF gene mutations may have pleiotropic effects. Some horses with the so-called "splashed white" coat colour (characterized by a very distinctive large blaze, extended white markings on the legs, and blue eyes) are deaf Hauswirth et al, 2012Hauswirth et al, , 2013. Two mutations were identified that condition the splashed-white phenotype: (Philipp et al, 2011).…”

Section: Mitf Genementioning

confidence: 99%

The Effect of a Coat Colour-Associated Genes Polymorphism on Animal Health – A Review

Charon

Lipka

2015

Annals of Animal Science

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In recent years, the knowledge regarding molecular mechanisms of skin, hair and eye colouration in vertebrates has significantly broadened. It was found that some of the identified coat colour genes show negative pleiotropic effect. They are associated with hereditary diseases, often of a lethal character. Most of these diseases have their counterparts in humans. There is no effective treatment for these diseases, therefore animal models can help to identify the genetic background of diseases and to develop appropriate treatment. Much less is known on the association of coat colour with animal performance. However, there are reports on the effect of coat colour on body measurements and milk production in subtropical environments. The knowledge on pleiotropic effects of coat colour genes is important for breeders who should be aware of the consequences of their decision on mating animals with given genotype.

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Novel variants in the KIT and PAX3 genes in horses with white‐spotted coat colour phenotypes

Cited by 69 publications

References 15 publications

A Frameshift Mutation in KIT is Associated with White Spotting in the Arabian Camel

A Frameshift Mutation in KIT is Associated with White Spotting in the Arabian Camel

Crypto-tobiano horses in Hucul breed

The Effect of a Coat Colour-Associated Genes Polymorphism on Animal Health – A Review

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