OMIA:001737-9838 : Coat colour, white spotting, KIT-related in Camelus dromedarius
Categories: Pigmentation phene
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Considered a defect: no
Key variant known: yes
Year key variant first reported: 2017
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: Whole-genome sequencing of "One spotted and eight solid camels" enabled Holl et al. (2017) to report that 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+). . . . The frameshift results in a premature stop codon five amino acids downstream, thus terminating KIT at the tyrosine kinase domain. . . . p.M614IfsX5" These authors also reported that "No additional mutations unique to the spotted camel were detected in the EDNRB, EDN3, SOX10, KITLG, PDGFRA, MITF, and PAX3 candidate white spotting genes". They also reported that a different type of white spotting is likely to be due to another variant.
Clinical features: Holl et al. (2017): "The US spotted camels were visibly smaller in overall body size than the solid camels, though no quantitative measures were assessed. Two of the owners mentioned that spotted camels are known for being roughly 30 cm shorter at maturity."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KIT||v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog||Camelus dromedarius||2||NC_044512.1 (85473736..85396199)||KIT||Homologene, Ensembl , NCBI gene|
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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||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|566||Coat colour, white spotting, KIT-related||KIT||deletion, small (<=20)||Naturally occurring variant||c.1842delG||p.(M614Ifs*5)||2017||28282952|
Cite this entry
|2017||Holl, H., Isaza, R., Mohamoud, Y., Ahmed, A., Almathen, F., Youcef, C., Gaouar, S., Antczak, D.F., Brooks, S. :|
|A Frameshift Mutation in KIT is Associated with White Spotting in the Arabian Camel. Genes (Basel) 8:, 2017. Pubmed reference: 28282952 . DOI: 10.3390/genes8030102.|
- Created by Frank Nicholas on 14 Mar 2017
- Changed by Frank Nicholas on 14 Mar 2017
- Changed by Frank Nicholas on 17 Mar 2017