OMIA:001737-89462 : Coat colour, white spotting, KIT-related in Bubalus bubalis (water buffalo) |
In other species: dog , domestic cat , ass (donkey) , Arabian camel , taurine cattle , goat
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 172800 (trait) , 164920 (gene)
Mendelian trait/disorder: yes
Disease-related: no
Key variant known: yes
Year key variant first reported: 2024
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.
Species-specific description: Dai et al. (2024) "successfully validated these ... previously identified mutations in MITF [Yusnizar et al., 2015, see OMIA:000214-89462 for details] and detected the KIT gene as another candidate responsible for the manifestation of the white spotting in swamp buffaloes [omia.variant:1725]. ... These mutations jointly explained 95% of the white spotting in swamp buffaloes .... [The authors] also found evidence for other candidate genes relevant to the white spotting."
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| KIT | KIT proto-oncogene, receptor tyrosine kinase | Bubalus bubalis | 7 | NC_059163.1 (47225867..47139439) | KIT | Homologene, Ensembl , NCBI gene |
Variants
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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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1725 | Coat colour, white spotting, KIT-related | KIT | nonsense (stop-gain) | Naturally occurring variant | UOA_WB_1 | 7 | NC_037551.1:47207784A>T | NM_001290952.1:c.2016T>A | NP_001277881.1:p.(Y672*) | 2024 | 39048931 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2024). OMIA:001737-89462: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2024 | Dai, D., Sari, E.M., Si, J., Ashari, H., Dagong, M.I.A., Pauciullo, A., Lenstra, J.A., Han, J., Zhang, Y. : |
| Genomic analysis reveals the association of KIT and MITF variants with the white spotting in swamp buffaloes. BMC Genomics 25:713, 2024. Pubmed reference: 39048931. DOI: 10.1186/s12864-024-10634-2. |
Edit History
- Created by Imke Tammen2 on 24 Aug 2024
- Changed by Imke Tammen2 on 24 Aug 2024
- Changed by Imke Tammen2 on 06 Sep 2024