OMIA:000209-9796 : Coat colour, dominant white in Equus caballus (horse) |
In other species: dog , domestic cat , ass (donkey) , pig , llama , taurine cattle , goat , rabbit , domestic yak , alpaca , raccoon dog , Arctic fox
Categories: Pigmentation phene , Mortality / aging (incl. embryonic lethal)
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 172800 (trait) , 164920 (gene)
Single-gene trait/disorder: yes
Mode of inheritance: Autosomal dominant
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2005
Cross-species summary: The dominant white gene is one of a number of genes that regulate normal growth and proliferation of cells. In fact, it encodes a protein that protrudes through the cell membrane, relaying 'messages' across the membrane, from outside to inside the cell. The transmembrane domain of the protein is a receptor for a growth factor (a protein produced by one type of cell, that acts on another type of cell). The domain inside the cell has tyrosine kinase activity. When a growth factor binds to the receptor on the outside of the cell, this stimulates tyrosine kinase activity inside the cell, which sets off a cascade of phosphorylations, resulting in activation of transcription factors, which in turn activate genes, resulting in multiplication of stem cells, including melanocyte precursor cells, in the developing embryo. This whole process is known as a signal transduction pathway. During embryonic development, the melanosome precursor cells migrate from the neural crest down either side of the body. Under normal circumstances, they eventually meet at the centre of the belly. The cells then proliferate in all directions until they meeting neighbouring cells, thereby filling up all available areas, resulting in a solid mass of melanocytes over the entire body. The dominant white allele produces a defective transmembrane protein which is unable to relay 'messages', resulting in a lack of melanocytes, and hence white coat colour. An interesting aspect of the dominant white gene is that if it is activated at the wrong time, the result can be excess and uncontrolled proliferation of stem cells; in other words, cancer. In fact, at some time in the past, a feline retrovirus (the Hardy-Zuckerman 4 feline sarcoma virus) 'picked up' (by transduction) a copy of the dominant white gene from a cat, and incorporated this gene into its own genome. When this retrovirus infects cats, it activates its own copy of the gene at inappropriate times, causing sarcoma - a malignant tumour of cells derived from connective tissue. Retroviral genes that cause cancer are called oncogenes. The original host version of an oncogene is called a proto-oncogene. Thus, the dominant white gene is actually a proto-oncogene. In this particular case, the oncogene was discovered and named v-kit (where 'v' indicates a viral version of the gene) long before its association with white coat colour was established. The corresponding proto-oncogene is called c-kit, where 'c' stands for cellular. After the discovery and cloning of v-kit in the feline retrovirus by Besmer et al. (1986; Nature 320:415-421), c-kit was identified and mapped first in humans, by Mattei et al. (1987; Cytogenetics and Cell Genetics 46:657 only), and then in mice (Chabot et al., 1988; Nature 335:88-89, 1988), where it was shown to be identical with the long-recognised white-spotting (W) locus. Three years later, Giebel and Spritz (1991; Proceedings of the National Academy of Sciences 88:8696-8699) showed that mutations at the c-kit gene in humans cause piebaldism, which is the human homologue of white spotting (see the MIM entry at the top of this page)
Species-specific name: Tobiano, Sabino
Inheritance:
Some but not all of the KIT mutations are thought to be homozygous embryonic lethal.
Mapping: Mau et al. (2004) mapped this trait to a region of chromosome ECA3 containing the KIT gene.
Markers: From a study of 1054 American Paint horses registered with the American Paint Horse Association (APHA), Brooks et al. (2020 reported that "The W20 allele within the KIT gene, independent of other known spotting alleles, was strongly associated with the APHA-defined white-spotting phenotype (P = 1.86 × 10-18 ), refuting reports that W20 acts only as a modifier of other underlying white-spotting patterns."
Molecular basis:
Using the comparative candidate-gene strategy (based on the KIT gene being associated with similar coat-colour-phenotypes in humans and pigs), Brooks and Bailey (2005) sequenced the KIT gene in horses of each of the three genotypes at a Sabino-spotting locus they called Sabino 1, and identified a splice variant, namely "a base substitution for T with A in intron 16, 1037 bases following exon 16" that results in the skipping of exon 17 and which was entirely associated with the SB1 allele. Homozygosity for this allele "results in a complete or nearly completely white phenotype". Haase et al. (2007) showed that the dominant white coat colour is due to a range of mutations in the KIT gene across a range of breeds. Brooks et al. (2007) showed that the tobiano pattern is due to a large paracentric inversion that begins just downstream of the KIT gene. In the words of Brooks et al. (2007), the "inversion may disrupt regulatory sequences for the KIT gene and cause the white spotting pattern". Haase et al. (2008) showed that the same inversion is the cause of this coat colour in a range of German horse breeds, indicating that it is an old mutation. Additional KIT mutations associated with white or white spotting have been reported by Haase et al. (2009), Holl et al. (2010), Haase et al. (2011) and Hauswirth et al. (2013). To help keep track of the large number of apparently functional mutations, Haase et al. (2009) proposed a KIT-allele naming system (W1, . . . , W11) for the 11 mutants then recognised. The new allele reported by Holl et al. (2010) is W12. Haase et al. (2011) reported new alleles W13-W17. The three new alleles reported by Hauswirth et al. (2013) are named W18, W19, and W20. Another new allele, W21, was reported by Haase et al. (2015). W22 was reported by Dürig et al. (2017) and W23 by Holl et al. (2017), who also provided the first report of a viable W15 homozygote, which was completely white, the first such reported case of viable homozygosity for any W allele. Negro et al. (2017): "a missense mutation (p.Arg682His) in KIT [= allele W20] was associated with white facial markings (P < 0.05) and with total white markings (P < 0.05) in PRMe horses. The relative contribution of this variant to white markings in PRMe horses was estimated at 47.6% (head) and 43.4% (total score). In PRE horses, this variant was also associated with hindlimb scores (P < 0.05) with a relative contribution of 41.2%." Capomaccio et al. (2017) reported a de novo likely causal (splicing) variant (NC_009146.2:g.77736559C>T, called allele W24) in a white Italian Trotter born to two non-white (bay) parents. Hoban et al. (2018) reported three new likely causal variants, which they designated "W25 (p.Leu223Pro) [in a Thoroughbred family], W26 (p.Ser846Valfs*15) [in the same Thoroughbred family] and W27 (p.Cys491Trp) [in a second Thoroughbred family]". These authors also identified variant W13 in a Miniature Horse family. Hug et al. (2019) reported a "1273‐bp deletion spanning parts of intron 2 and exon 3 of the equine KIT gene" as the likely causal variant for "a German Riding Pony with white‐spotting coat colour phenotype" very similar to that attributed to allele W22 (see above). The authors designated this newly-reported variant as W28. Table S1 of Hug et al. (2019) provides details of all KIT alleles (plus alleles at PAX3, MITF and EDNRB) known in June 2019. Martin et al. (2020) reported that "extensive coat white patterning in a family of Berber horses" is due to "a single missense mutation (g.79548244, c.2020T>A; p.L674H) at the site of the second W17 variant. We propose to designate this variant as W30." Patterson Rosa et al. (2021) “performed a candidate-gene exon sequencing approach on KIT and MITF … within 2 families of horses of unknown white spotting. Family 1 (Fam1, N = 5) consisted of a Quarter Horse stallion and 4 offspring with white spotting pattern ranging from legs, lower ventral, and head regions with jagged borders, to almost complete white. The second family (Fam2, N = 7) consisted of 6 half-sibling American Paint Horse/Quarter Horse and their dam, demonstrating unpigmented limbs with belly spots and an extensive white patterning on the face. … This approach resulted in 2 variants significantly associated with familial phenotypes, where Fam1 variant is an indel leading to a frameshift mutation [= allele W31], and Fam2 a non-synonymous SNP [= allele W32]. … W32, may have a subtle impact on receptor function or could be in linkage with a non-coding or regulatory change creating the mild spotting pattern observed in this family.” Esdaile et al. (2021): "Screening 19 unregistered all-white Shetland ponies for 16 white patterning markers identified 14 individuals whose phenotype could not be explained by testing results. In evaluating other known dominant white variants, 14 horses were heterozygous for W13. ... Genotyping known white spotting variants in 30 owner-reported white animals (25 Miniature Horses and five Shetland ponies) identified two additional W13/N American Miniature Horses. No homozygous W13 individuals were identified and W13/N ponies had a similar all-white coat with pink skin phenotype, regardless of the other white spotting variants present, demonstrating that W13 results in a Mendelian inherited dominant white phenotype and homozygosity is likely lethal." Esdaile et al. (2022) reported "KIT:c.2783A>T as a causal de novo variant for the sabino-like pattern of a Standardbred", naming this variant as W33. Patterson Rosa et al. (2022) reported "a missense variant in KIT (rs1140732842, NC_009146.3:g.79566881T>C, p.T391A)" with a significant association with Average Grade of White, calculated as the mean of subjective assessments of three observers on photographs of 147 horses. The authors named this variant W34. They also reported that W34 (in exon 7) is in strong linkage disequilibrium with W19 (in exon 8; 13.1kb from W34), and interacts with the MC1R locus. McFadden et al. (2023) "report an association of increased white spotting on the skin and coat with a variant in the 5'UTR of KIT (rs1149701677: g.79,618,649A>C). ... [The authors] propose that this single nucleotide variant likely alters the regulation of KIT, which in turn may disrupt melanoblast migration causing an increase in white spotting on the coat. Alternatively, the rs1149701677 variant may be in linkage with another nearby variant with an as-yet-undiscovered functional impact. [The authors] propose to term this new allele "Holiday White" or W35 based on conventional nomenclature."
McFadden et al. (2024, PMID: 38338160): "It is a common misconception among the general public that a horse can possess only two KIT variants. To correct this misconception, [the authors] used BEAGLE 5.4-phased NGS data to identify 15 haplotypes possessing two or more KIT variants previously associated with depigmentation phenotypes. ... future work aims to document phenotypic variations for each compound genotype."
Prevalence: Druml et al. (2018) reported that the SB1 variant is "present in three breeds (Haflinger, 14 out of 98; Noriker, four out of 189; Lipizzan one out of 329) . . . None of the SB1/sb1-carrier horses met the criteria defining the Sabino1 pattern according to current applied protocols." Esdaile et al. (2021): "The estimated allele frequency of W13 in the American Miniature Horse was 0.0063 (79 N/N, 1 W13/N) and the allele was not detected in a random sample (n = 59) of Shetland ponies." In the same study 14 out of 19 all-white unregistered Shetland ponies were heterozygous for the W13 variant.
Genetic testing: McFadden et al. (2024, PMID: 38338160) "propose KIT variants be reported as phased genotypes or the separation of different loci to more accurately report genotypes."
Breeds:
American Paint (Horse) (VBO_0000897),
American Trotter (Horse) (VBO_0000899),
Appaloosa (Horse) (VBO_0000904),
Belgian Draft (Horse) (VBO_0000915),
Berber, Germany (Horse) (VBO_0010413),
Camarillo White Horse, United States of America (Horse) (VBO_0016869),
CH-Warmblut, Switzerland (Horse) (VBO_0011249),
Clydesdale (Horse) (VBO_0000934),
Freiberger (Horse) (VBO_0000965),
German Riding Pony (Horse) (VBO_0000972),
Haflinger (Horse) (VBO_0000978),
Holsteiner (Horse) (VBO_0000986),
Icelandic Horse (Horse) (VBO_0000991),
Japanese Draft, Japan (Horse) (VBO_0016870),
Lipizzan horse (Horse) (VBO_0001014),
Miniature Horse (Horse) (VBO_0016848),
Morgan (Horse) (VBO_0001022),
Noric (Horse) (VBO_0001030),
Oldenburg (Horse) (VBO_0001034),
Quarter Horse (Horse) (VBO_0001057),
Shetland Pony (Horse) (VBO_0001066),
Süddeutsches Kaltblut, Germany (Horse) (VBO_0011384),
Thoroughbred (Horse) (VBO_0001083),
Tori hobune, Estonia (Horse) (VBO_0011097),
Traditional Gypsy Cob, United Kingdom of Great Britain and Northern Ireland (Horse) (VBO_0011496),
Trottatore Italiano, Italy (Horse) (VBO_0011598),
Warmblood (Horse) (VBO_0017483),
Welsh Pony (Horse) (VBO_0001091).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
---|---|---|---|---|---|---|
KIT | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | Equus caballus | 3 | NC_009146.3 (79618685..79536564) | KIT | Homologene, Ensembl , NCBI gene |
Variants
By default, variants are sorted chronologically by year of publication, to provide a historical perspective.
Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending
order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column
headers.
WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
OMIA Variant ID | Breed(s) | Variant Phenotype | Gene | Allele | Type of Variant | Source of Genetic Variant | Reference Sequence | Chr. | g. or m. | c. or n. | p. | Verbal Description | EVA ID | Year Published | PubMed ID(s) | Acknowledgements |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1331 | American Paint (Horse) American Trotter (Horse) Belgian Draft (Horse) Icelandic Horse (Horse) Quarter Horse (Horse) Thoroughbred (Horse) Welsh Pony (Horse) | White spotting | KIT | W32 | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79538738C>T | NM_001163866.1:c.2878G>A | NP_001157338.1:p.(A960T) | cDNA position previously listed as c.3214G>A; p.(A1072T) based on transcript ENSECAT00000014037.3 [16/04/2024] | rs1141982296 | 2021 | 34223905 | Breed information updated based on PMID: 38600096 |
882 | Süddeutsches Kaltblut, Germany (Horse) | Coat colour, dominant white | KIT | W11 | splicing | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79540429C>T | NM_001163866.1:c.2684+1G>A | rs5334475183 | 2009 | 19456317 | Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | ||
939 | Thoroughbred (Horse) | Coat colour, dominant white | KIT | W26 | deletion, small (<=20) | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79540694del | NM_001163866.1:c.2536del | NP_001157338.1:p.(S846Vfs*15) | NM_001163866.1; NP_001157338.1; published as c.2536delA | rs3101685403 | 2018 | 29333746 | |
873 | Oldenburg (Horse) | Coat colour, dominant white | KIT | W16 | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79540741T>A | NM_001163866.1:c.2489A>T | NP_001157338.1:p.(K830I) | rs5334475213 | 2011 | 21554354 | Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | |
883 | Miniature Horse (Horse) Quarter Horse (Horse) Shetland Pony (Horse) | Coat colour, dominant white | KIT | W13 | splicing | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79544066C>G | NM_001163866.1:c.2472+5G>C | NM_001163866.1 | rs3102773259 | 2011 | 21554354 | Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | |
889 | Thoroughbred (Horse) | Coat colour, dominant white | KIT | W14 | deletion, gross (>20) | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79544098_79544151del | NM_001163866.1:c.2392_2445del | NP_001157338.1:p.(H798_N815del) | NM_001163866.1; NP_001157338.1 | 2011 | 21554354 | genomic coordinates updated from g.79544151_79544204del to g.79544098_79544151del in EquCab3.0 [17/09/2023] | |
891 | Icelandic Horse (Horse) | White spotting | KIT | W21 | deletion, small (<=20) | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79544174del | NM_001163866.1:c.2369delC | NP_001157338.1:p.(A790Efs*20) | rs5334475210 | 2015 | 26059442 | Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | |
885 | Appaloosa (Horse) Haflinger (Horse) Lipizzan horse (Horse) Noric (Horse) Quarter Horse (Horse) | Coat colour, dominant white | KIT | sabino 1 (SB1) | splicing | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79544206A>T | "SNP AX-103727726 (ECA3:77735520; SB1, SNP KI16+1037A)" (Druml et al., 2018) | rs5334475211 | 2005 | 16284805 | Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | ||
893 | Trottatore Italiano, Italy (Horse) | Coat colour, dominant white | KIT | W24 | splicing | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79545245C>T | NM_001163866.1:c.2349+1G>A | rs3443588955 | 2017 | 28856698 | |||
1462 | American Trotter (Horse) | Dominant white spotting | KIT | W33 | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79545248T>A | NM_001163866.1:c.2347A>T | NP_001157338.1:p.(N783Y) | NC_009146.3; previously listed as ENSECAT00000014037.3: c.2783A>T / p.(N895Y) [16/04/2024] | 2022 | 35641888 | ||
881 | Icelandic Horse (Horse) | Coat colour, dominant white | KIT | W8 | splicing | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79545374C>T | NM_001163866.1:c.2222-1G>A | NM_001163866.1 | rs3434854925 | 2009 | 19456317 | ||
886 | Thoroughbred (Horse) | Coat colour, dominant white | KIT | W5 | deletion, small (<=20) | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79545900del | NM_001163866.1:c.2193delG | NP_001157338.1:p.(T732Qfs*9) | rs5334475194 | 2009 | 19456317 | Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | |
878 | Freiberger (Horse) | Coat colour, dominant white | KIT | W1 | nonsense (stop-gain) | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79545942G>C | NM_001163866.1:c.2151C>G | NP_001157338.1:p.(Y717*) | rs5334475201 | 2007 | 17997609 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | |
877 | American Paint (Horse) American Trotter (Horse) Appaloosa (Horse) Arab (Horse) Belgian Draft (Horse) Clydesdale (Horse) Freiberger (Horse) German Riding Pony (Horse) Morgan (Horse) Noric (Horse) Oldenburg (Horse) Quarter Horse (Horse) Shetland Pony (Horse) Thoroughbred (Horse) Tori hobune, Estonia (Horse) Traditional Gypsy Cob, United Kingdom of Great Britain and Northern Ireland (Horse) Warmblood (Horse) Welsh Pony (Horse) | Coat colour, dominant white | KIT | W20 | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79548220T>C | NM_001163866.1:c.2045G>A | NP_001157338.1:p.(R682H) | ENSECAT00000014037.3:c.2381A>G ENSECAP00000011188.2:p.His794Arg; reference genome corresponds to g.79548220T and the transcript NM_001163866.1 represents g.79548220C | rs1143160924 | 2013 | 23659293 | Variant coordinates initially gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124. Breed information updated based on PMID: 38600096 |
875 | Japanese Draft, Japan (Horse) | Coat colour, dominant white | KIT | W17b | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79548244A>G | NM_001163866.1:c.2021T>C | NP_001157338.1:p.(L674P) | rs5334475224 | 2011 | 21554354 | Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | |
1261 | Berber, Germany (Horse) | Extensive coat white patterning | KIT | W30 | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79548244A>T | NM_001163866.1:c.2021T>A | NP_001157338.1:p.(L674H) | published as g.79548244, c.2020T>A; p.L674H (Martin et al., 2020) - changed to NM_001163866.1:c.2021T>A [16/042024] | rs5334475224 | 2020 | 33111383 | |
874 | Japanese Draft, Japan (Horse) | Coat colour, dominant white | KIT | w17a | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79548265T>A | NM_001163866.1:c.2000A>T | NP_001157338.1:p.(E667D) | previously listed as c.2001A>T [16/04/2024] | rs5334475222 | 2011 | 21554354 | Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124 |
890 | Thoroughbred (Horse) | White spotting | KIT | W22 | deletion, gross (>20) | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79548925_79550822del | 1898bp deletion | 2017 | 28444912 | ||||
868 | Thoroughbred (Horse) | Coat colour, dominant white | KIT | W2 | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79549540C>T | NM_001163866.1:c.1960G>A | NP_001157338.1:p.(G654R) | rs5334475198 | 2007 | 17997609 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | |
869 | Camarillo White Horse, United States of America (Horse) | Coat colour, dominant white | KIT | W4 | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79549781G>A | NM_001163866.1:c.1805C>T | NP_001157338.1:p.(A602V) | Previously incorrectly listed as g.79549780G>A [16/04/2024] | 2007 | 17997609 | Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | |
871 | Holsteiner (Horse) | Coat colour, dominant white | KIT | W9 | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79549797C>T | NM_001163866.1:c.1789G>A | NP_001157338.1:p.(G597R) | rs5334475209 | 2009 | 19456317 | Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | |
872 | Arab (Horse) | Coat colour, dominant white | KIT | W15 | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79550351A>G | NM_001163866.1:c.1597T>C | NP_001157338.1:p.(C533R) | rs5334475202 | 2011 | 21554354 | Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | |
940 | Thoroughbred (Horse) | Coat colour, dominant white | KIT | W27 | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79551937A>C | NM_001163866.1:c.1473T>G | NP_001157338.1:p.(C491W) | NM_001163866.1; NP_001157338.1 | rs3110307743 | 2018 | 29333746 | |
884 | CH-Warmblut, Switzerland (Horse) | Coat colour, dominant white | KIT | W18 | splicing | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79553751C>T | NM_001163866.1:c.1346+1G>A | rs5334475221 | 2013 | 23659293 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | ||
876 | Arab (Horse) | Coat colour, dominant white | KIT | W19 | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79553776T>C | NM_001163866.1:c.1322A>G | NP_001157338.1:p.(Y441C) | rs5334475217 | 2013 | 23659293 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | |
1476 | American Paint (Horse) American Trotter (Horse) Appaloosa (Horse) Arab (Horse) Mangalarga (Horse) Morgan (Horse) Mustang (Horse) Quarter Horse (Horse) Rocky Mountain, United States of America (Bighorn sheep) Warmblood (Horse) | Increased white spotting | KIT | W34 | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79566881T>C | NM_001163866.1:c.1171A>G | NP_001157338.1:p.(T391A) | Previously listed as ENSECAT00000014037.3:c.1495A>G; ENSECAP00000011188.2:p.(T499A) [16/04/2024] | rs1140732842 | 2022 | 35953947 | Breed information updated based on PMID: 38600096 |
887 | Quarter Horse (Horse) | Coat colour, dominant white | KIT | W10 | deletion, small (<=20) | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79566923_79566926del | NM_001163866.1:c.1126_1129del | NP_001157338.1:p.(E376Ffs*3) | NM_001163866.1; NP_001157338.1; published as c.1126_1129delGAAC | 2009 | 19456317 | Genomic coordinates updated in this table from g.79566926_79566929del in EquCab3.0 after feedback from Micaela Vierra identified that these coordinates were incorrect [27/09/2023]. | |
870 | Thoroughbred (Horse) | Coat colour, dominant white | KIT | W6 | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79573754C>T | NM_001163866.1:c.856G>A | NP_001157338.1:p.(G286R) | rs5334475167 | 2009 | 19456317 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | |
892 | Arab (Horse) | White spotting | KIT | W23 | splicing | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79578484C>G | NM_001163866.1:c.756+1G>C | rs1095048836 | 2017 | 28378922 | |||
879 | Arab (Horse) | Coat colour, dominant white | KIT | W3 | nonsense (stop-gain) | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79578535T>A | NM_001163866.1:c.706A>T | NP_001157338.1:p.(K236*) | rs5334475200 | 2007 | 17997609 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | |
938 | Thoroughbred (Horse) | Coat colour, dominant white | KIT | W25 | missense | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79578573A>G | NM_001163866.1:c.668T>C | NP_001157338.1:p.(L223P) | NM_001163866.1; NP_001157338.1 | rs3103992630 | 2018 | 29333746 | |
888 | Thoroughbred (Horse) | Coat colour, dominant white | KIT | W12 | deletion, small (<=20) | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79579774_79579778del | NM_001163866.1:c.559_563del | NP_001157338.1:p.(S187Rfs*10) | NM_001163866.1; NP_001157338.1; published as c.559_563delTCTGC | rs5334475188 | 2010 | Reference not in PubMed; see OMIA 000209-9796 for reference details | Variant coordinates gleaned from or confirmed by Table S1 of Durig et al. (2017) Anim Genet 48:123-124 |
1091 | German Riding Pony (Horse) | White spotting | KIT | W28 | deletion, gross (>20) | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79579925_79581197del | 2019 | 31463981 | |||||
880 | Thoroughbred (Horse) | Coat colour, dominant white | KIT | W7 | splicing | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79580000C>G | NM_001163866.1:c.338-1G>C | rs5334475216 | 2009 | 19456317 | Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool; breed and allele information obtained from Table S1 of Durig et al. (2017) Anim Genet 48:123-124 | ||
1330 | Quarter Horse (Horse) | White spotting | KIT | W31 | insertion, small (<=20) | Naturally occurring variant | EquCab3.0 | 3 | NC_009146.3:g.79618532_79618533insA | NM_001163866.1:c.30_31insT | NP_001157338.1:p.(L11Sfs*115) | 2021 | 34223905 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:000209-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
References
Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2024 | Durward-Akhurst, S.A., Marlowe, J.L., Schaefer, R.J., Springer, K., Grantham, B., Carey, W.K., Bellone, R.R., Mickelson, J.R., McCue, M.E. : |
Predicted genetic burden and frequency of phenotype-associated variants in the horse. Sci Rep 14:8396, 2024. Pubmed reference: 38600096. DOI: 10.1038/s41598-024-57872-8. | |
McFadden, A., Vierra, M., Martin, K., Brooks, S.A., Everts, R.E., Lafayette, C. : | |
Spotting the pattern: A review on white coat color in the domestic horse. Animals (Basel) 14:451, 2024. Pubmed reference: 38338094. DOI: 10.3390/ani14030451. | |
McFadden, A., Vierra, M., Robilliard, H., Martin, K., Brooks, S.A., Everts, R.E., Lafayette, C. : | |
Population analysis identifies 15 multi-variant dominant white haplotypes in horses. Animals (Basel) 14:517, 2024. Pubmed reference: 38338160. DOI: 10.3390/ani14030517. | |
2023 | Gossett, C.L., Guyer, D., Hein, J., Brooks, S.A. : |
Digital phenotyping reveals phenotype diversity and epistasis among white spotting alleles in the American Paint horse. Genes (Basel) 14:2011, 2023. Pubmed reference: 38002953. DOI: 10.3390/genes14112011. | |
McFadden, A., Martin, K., Foster, G., Vierra, M., Lundquist, E.W., Everts, R.E., Martin, E., Volz, E., McLoone, K., Brooks, S.A., Lafayette, C. : | |
5'UTR variant in KIT associated with white spotting in horses. J Equine Vet Sci 127:104563, 2023. Pubmed reference: 37182614. DOI: 10.1016/j.jevs.2023.104563. | |
2022 | Esdaile, E., Till, B., Kallenberg, A., Fremeux, M., Bickel, L., Bellone, R.R. : |
A de novo missense mutation in KIT is responsible for dominant white spotting phenotype in a Standardbred horse. Anim Genet 53:534-537, 2022. Pubmed reference: 35641888. DOI: 10.1111/age.13222. | |
Patterson Rosa, L., Martin, K., Vierra, M., Lundquist, E., Foster, G., Brooks, S.A., Lafayette, C. : | |
A KIT variant associated with increased white spotting epistatic to MC1R genotype in horses (Equus caballus). Animals (Basel) 12:1958, 2022. Pubmed reference: 35953947. DOI: 10.3390/ani12151958. | |
2021 | Esdaile, E., Kallenberg, A., Avila, F., Bellone, R.R. : |
Identification of W13 in the American Miniature Horse and Shetland Pony Populations. Genes (Basel) 12:1985, 2021. Pubmed reference: 34946933. DOI: 10.3390/genes12121985. | |
Patterson Rosa, L., Martin, K., Vierra, M., Foster, G., Lundquist, E., Brooks, S.A., Lafayette, C. : | |
Two variants of KIT causing white patterning in stock-type horses. J Hered 112:447-451, 2021. Pubmed reference: 34223905. DOI: 10.1093/jhered/esab033. | |
2020 | Brooks, S.A., Palermo, K.M., Kahn, A., Hein, J. : |
Impact of white-spotting alleles, including W20, on phenotype in the American Paint Horse. Anim Genet 51:707-715, 2020. Pubmed reference: 32686191. DOI: 10.1111/age.12960. | |
Martin, K., Patterson Rosa, L., Vierra, M., Foster, G., Brooks, S.A., Lafayette, C. : | |
De novo mutation of KIT causes extensive coat white patterning in a family of Berber horses. Anim Genet 52:135-137, 2020. Pubmed reference: 33111383. DOI: 10.1111/age.13017. | |
2019 | Hug, P., Jude, R., Henkel, J., Jagannathan, V., Leeb, T. : |
A novel KIT deletion variant in a German Riding Pony with white-spotting coat colour phenotype. Anim Genet 50:761-763, 2019. Pubmed reference: 31463981. DOI: 10.1111/age.12840. | |
2018 | Druml, T., Grilz-Seger, G., Neuditschko, M., Horna, M., Ricard, A., Pausch, H., Brem, G. : |
Novel insights into Sabino1 and splashed white coat color patterns in horses. Anim Genet 49:249-253, 2018. Pubmed reference: 29635692. DOI: 10.1111/age.12657. | |
Hoban, R., Castle, K., Hamilton, N., Haase, B. : | |
Novel KIT variants for dominant white in the Australian horse population. Anim Genet 49:99-100, 2018. Pubmed reference: 29333746. DOI: 10.1111/age.12627. | |
Li, B., He, X., Zhao, Y., Bai, D., Shiraigo, W., Zhao, Q., Manglai, D. : | |
Regulatory pathway analysis of coat color genes in Mongolian horses. Hereditas 155:13, 2018. Pubmed reference: 28974924. DOI: 10.1186/s41065-017-0048-y. | |
2017 | Capomaccio, S., Milanesi, M., Nocelli, C., Giontella, A., Verini-Supplizi, A., Branca, M., Silvestrelli, M., Cappelli, K. : |
Splicing site disruption in the KIT gene as strong candidate for white dominant phenotype in an Italian Trotter. Anim Genet 48:727-728, 2017. Pubmed reference: 28856698. DOI: 10.1111/age.12590. | |
Dürig, N., Jude, R., Holl, H., Brooks, S.A., Lafayette, C., Jagannathan, V., Leeb, T. : | |
Whole genome sequencing reveals a novel deletion variant in the KIT gene in horses with white spotted coat colour phenotypes. Anim Genet 48:483-485, 2017. Pubmed reference: 28444912. DOI: 10.1111/age.12556. | |
Holl, H.M., Brooks, S.A., Carpenter, M.L., Bustamante, C.D., Lafayette, C. : | |
A novel splice mutation within equine KIT and the W15 allele in the homozygous state lead to all white coat color phenotypes. Anim Genet 48:497-498, 2017. Pubmed reference: 28378922. DOI: 10.1111/age.12554. | |
Kim, N.Y., Bhuiyan, M.S.A., Chae, H.S., Baek, K.S., Son, J.K., Shin, S.M., Woo, J.H., Park, S.H., Lee, S.H. : | |
Genome-wide association study for tobiano spotting coat color in Korean Jeju × Thoroughbred horse population. Anim Genet 48:728-729, 2017. Pubmed reference: 28850680. DOI: 10.1111/age.12596. | |
Negro, S., Imsland, F., Valera, M., Molina, A., Solé, M., Andersson, L. : | |
Association analysis of KIT, MITF, and PAX3 variants with white markings in Spanish horses. Anim Genet 48:349-352, 2017. Pubmed reference: 28084638. DOI: 10.1111/age.12528. | |
2016 | Han, H., Mao, C., Chen, N., Lan, X., Chen, H., Lei, C., Dang, R. : |
Single nucleotide polymorphisms of Kit gene in Chinese indigenous horses. Jpn J Vet Res 64:81-9, 2016. Pubmed reference: 27348891. | |
Martin, L., Damaso, N., Mills, D., Martin, L., Damaso, N., Mills, D. : | |
Detection of single nucleotide polymorphisms (SNP) in equine coat color genes using SNaPshotTM multiplex kit or pluronic F-108 tri-block copolymer and capillary electrophoresis. Electrophoresis 37:2862-2866, 2016. Pubmed reference: 27542347. DOI: 10.1002/elps.201600245. | |
Reissmann, M., Musa, L., Zakizadeh, S., Ludwig, A. : | |
Distribution of coat-color-associated alleles in the domestic horse population and Przewalski's horse. J Appl Genet 57:519-525, 2016. Pubmed reference: 27194311. DOI: 10.1007/s13353-016-0352-7. | |
2015 | Haase, B., Jagannathan, V., Rieder, S., Leeb, T. : |
A novel KIT variant in an Icelandic horse with white-spotted coat colour. Anim Genet 46:466, 2015. Pubmed reference: 26059442. DOI: 10.1111/age.12313. | |
2013 | Hauswirth, R., Jude, R., Haase, B., Bellone, R.R., Archer, S., Holl, H., Brooks, S.A., Tozaki, T., Penedo, M.C., Rieder, S., Leeb, T. : |
Novel variants in the KIT and PAX3 genes in horses with white-spotted coat colour phenotypes. Anim Genet 44:763-5, 2013. Pubmed reference: 23659293. DOI: 10.1111/age.12057. | |
2012 | Svensson, E.M., Telldahl, Y., Sjöling, E., Sundkvist, A., Hulth, H., Sjøvold, T., Götherström, A. : |
Coat colour and sex identification in horses from Iron Age Sweden. Ann Anat 194:82-7, 2012. Pubmed reference: 22154005. DOI: 10.1016/j.aanat.2011.11.001. | |
2011 | Bai, D.Y., Yang, L.H., Unerhu, U., Zhao, Y.P., Zhao, Q.N., Hasigaowa, H., Dugarjaviin, M. : |
[Effects of Kit gene on coat depigmentation in white horses]. Yi Chuan 33:1171-8, 2011. Pubmed reference: 22120071. DOI: 10.3724/sp.j.1005.2011.01171. | |
Haase, B., Rieder, S., Tozaki, T., Hasegawa, T., Penedo, MC., Jude, R., Leeb, T. : | |
Five novel KIT mutations in horses with white coat colour phenotypes. Anim Genet 42:337-339, 2011. Pubmed reference: 21554354. DOI: 10.1111/j.1365-2052.2011.02173.x. | |
2010 | Bellone, RR. : |
Pleiotropic effects of pigmentation genes in horses. Anim Genet 41 Suppl 2:100-10, 2010. Pubmed reference: 21070283. DOI: 10.1111/j.1365-2052.2010.02116.x. | |
Holl, H., Brooks, S., Bailey, E. : | |
De novo mutation of KIT discovered as a result of a non-hereditary white coat colour pattern Animal Genetics 41 Suppl 2:196-198, 2010. | |
Horváth, G., Blahó, M., Kriska, G., Hegedüs, R., Gerics, B., Farkas, R., Akesson, S. : | |
An unexpected advantage of whiteness in horses: the most horsefly-proof horse has a depolarizing white coat. Proc Biol Sci 277:1643-50, 2010. Pubmed reference: 20129982. DOI: 10.1098/rspb.2009.2202. | |
Li, B., He, XL., Zhao, YP., Wang, XJ., Manglai, D., Zhang, YR. : | |
[Molecular basis and applicability in equine color genetics]. Yi Chuan 32:1133-40, 2010. Pubmed reference: 21513164. | |
2009 | Haase, B., Obexer-Ruff, G., Dolf, G., Rieder, S., Burger, D., Poncet, PA., Gerber, V., Howard, J., Leeb, T. : |
Haematological parameters are normal in dominant white Franches-Montagnes horses carrying a KIT mutation. Vet J 184:315-7, 2009. Pubmed reference: 19362501. DOI: 10.1016/j.tvjl.2009.02.017. | |
Haase, B., Brooks, SA., Tozaki, T., Burger, D., Poncet, PA., Rieder, S., Hasegawa, T., Penedo, C., Leeb, T. : | |
Seven novel KIT mutations in horses with white coat colour phenotypes. Anim Genet 40:623-629, 2009. Pubmed reference: 19456317. DOI: 10.1111/j.1365-2052.2009.01893.x. | |
Kakoi, H., Tozaki, T., Nagata, S., Gawahara, H., Kijima-Suda, I. : | |
Development of a method for simultaneously genotyping multiple horse coat colour loci and genetic investigation of basic colour variation in Thoroughbred and Misaki horses in Japan. J Anim Breed Genet 126:425-31, 2009. Pubmed reference: 19912416. DOI: 10.1111/j.1439-0388.2009.00841.x. | |
Lewin, H.A. : | |
Genetics. It's a bull's market. Science 324:478-9, 2009. Pubmed reference: 19390037. DOI: 10.1126/science.1173880. | |
Rieder, S. : | |
Molecular tests for coat colours in horses. J Anim Breed Genet 126:415-24, 2009. Pubmed reference: 19912415. DOI: 10.1111/j.1439-0388.2009.00832.x. | |
2008 | Haase, B., Jude, R., Brooks, SA., Leeb, T. : |
An equine chromosome 3 inversion is associated with the tobiano spotting pattern in German horse breeds. Anim Genet 39:306-9, 2008. Pubmed reference: 18410476. DOI: 10.1111/j.1365-2052.2008.01715.x. | |
Rieder, S., Hagger, C., Obexer-Ruff, G., Leeb, T., Poncet, PA. : | |
Genetic analysis of white facial and leg markings in the Swiss Franches-Montagnes Horse Breed. J Hered 99:130-6, 2008. Pubmed reference: 18296388. DOI: 10.1093/jhered/esm115. | |
2007 | Brooks, SA., Lear, TL., Adelson, DL., Bailey, E. : |
A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses. Cytogenet Genome Res 119:225-30, 2007. Pubmed reference: 18253033. DOI: 10.1159/000112065. | |
Haase, B., Brooks, SA., Schlumbaum, A., Azor, PJ., Bailey, E., Alaeddine, F., Mevissen, M., Burger, D., Poncet, PA., Rieder, S., Leeb, T. : | |
Allelic heterogeneity at the equine KIT locus in dominant white (W) horses. PLoS Genet 3:e195, 2007. Pubmed reference: 17997609. DOI: 10.1371/journal.pgen.0030195. | |
2005 | Brooks, SA., Bailey, E. : |
Exon skipping in the KIT gene causes a Sabino spotting pattern in horses. Mamm Genome 16:893-902, 2005. Pubmed reference: 16284805. DOI: 10.1007/s00335-005-2472-y. | |
2004 | Mau, C,, Poncet, P.A., Bucher, B., Stranzinger, G., Rieder, S, : |
Genetic mapping of dominant white (W), a homozygous lethal condition in the horse (Equus caballus) Journal of Animal Breeding and Genetics 121:374-383, 2004. | |
2002 | Brooks, S.A., Terry, R.B., Bailey, E. : |
A PCR-RFLP for KIT associated with tobiano spotting pattern in horses Animal Genetics 33:301-303, 2002. Pubmed reference: 12139510. | |
1978 | Trommershausen-Smith, A. : |
Linkage of tobiano coat spotting and albumin markers in a pony family Journal of Heredity 69:214-216, 1978. Pubmed reference: 569673. | |
1969 | Pulos, WL., Hutt, FB. : |
Lethal dominant white in horses. J Hered 60:59-63, 1969. Pubmed reference: 5816567. |
Edit History
- Created by Kao Castle on 03 Aug 2009
- Changed by Frank Nicholas on 11 Sep 2011
- Changed by Frank Nicholas on 14 Sep 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 06 Jan 2013
- Changed by Frank Nicholas on 13 May 2013
- Changed by Frank Nicholas on 29 Nov 2013
- Changed by Tosso Leeb on 07 Aug 2015
- Changed by Frank Nicholas on 24 Aug 2017
- Changed by Frank Nicholas on 01 Sep 2017
- Changed by Frank Nicholas on 24 Nov 2017
- Changed by Frank Nicholas on 19 Jan 2018
- Changed by Frank Nicholas on 19 Apr 2018
- Changed by Frank Nicholas on 02 Sep 2019
- Changed by Frank Nicholas on 24 Jul 2020
- Changed by Frank Nicholas on 30 Oct 2020
- Changed by Imke Tammen2 on 10 Aug 2021
- Changed by Imke Tammen2 on 11 Jan 2022
- Changed by Frank Nicholas on 02 Jun 2022
- Changed by Frank Nicholas on 17 Aug 2022
- Changed by Imke Tammen2 on 16 May 2023
- Changed by Imke Tammen2 on 03 Jun 2024
- Changed by Imke Tammen2 on 04 Jun 2024
- Changed by Imke Tammen2 on 05 Jun 2024