OMIA:001737-9793 : Coat colour, white spotting, KIT-related in Equus asinus
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal dominant + recessive lethal
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2015
Cross-species summary: Variable degree of white spotting ranging from tiny white spots up to completely white animals. The absence of pigment is caused by the absence of skin melanocytes ("leucism, leucistic"), not by failure in the biochemical reactions required for pigment synthesis.
Molecular basis: Haase et al. (2015): c.1978+2T>A in a splice donor site
Fenn et al. (2017) confirmed the likely causality of the above mutation, concluding "the results of this study enhance the evidence that the previously identified variant is associated with white spotting in donkeys. Because the splice site variant was not observed in the homozygous state, this result also supports the hypothesis that homozygosity for this genetic variant is incompatible with life. The presence of the variant in donkeys of different breeds (Miniature Donkey and Mammoth Jack) suggests that the variant probably arose prior to breed separation"
Tanaka et al. (2020) provided evidence to reinforce the conclusion that "white spotting in donkeys . . . [is] less variable than in horses [being due to heterozygosity for just one variant, namely c.1978+2T>A] and support homozygosity being lethal, highlighting the caution that should be taken when mating spotted donkeys to avoid producing non‐viable foals".
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KIT||v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog||Equus asinus||3||NC_052179.1 (139842600..139924498)||KIT||Homologene, Ensembl , NCBI gene|
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
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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|405||Coat colour, white spotting, due to KIT||KIT||Ws||splicing||Naturally occurring variant||c.1978+2T>A||2015||25818843|
Cite this entry
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.
|2020||Tanaka, J., Grahn, R., Bellone, R.R. :|
|Evidence supports white spotting in donkeys as a homozygous lethal condition. Anim Genet :, 2020. Pubmed reference: 32657451 . DOI: 10.1111/age.12983.|
|2017||Fenn, D.J., Raudsepp, T., Cothran, E.G., Hamilton, N.A., Haase, B. :|
|Validation of a candidate causative mutation for white spotting in donkeys. Anim Genet 48:124-125, 2017. Pubmed reference: 27611565 . DOI: 10.1111/age.12494.|
|2015||Haase, B., Rieder, S., Leeb, T. :|
|Two variants in the KIT gene as candidate causative mutations for a dominant white and a white spotting phenotype in the donkey. Anim Genet :, 2015. Pubmed reference: 25818843 . DOI: 10.1111/age.12282.|
- Changed by Frank Nicholas on 16 Apr 2015
- Created by Frank Nicholas on 16 Apr 2015
- Changed by Frank Nicholas on 17 Oct 2016
- Changed by Frank Nicholas on 02 Mar 2017
- Changed by Frank Nicholas on 16 Jul 2020