OMIA 001737-9913 : Coat colour, white spotting, KIT-related in Bos taurus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KIT||KIT proto-oncogene receptor tyrosine kinase||Bos taurus||6||NC_037333.1 (70166681..70254049)||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.
|Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Year Published||PubMed ID(s)||Acknowledgements|
|British Gloucester Eringer Evolèner Pinzgauer Slovenian Cika Spanish Berrenda en negro Tux-Zillertaler||Pinzgauer spotting||KIT||KIT^PINZ||complex rearrangement||ARS‐UCD1.2||6||Briefly: the KIT^PINZ variant is "characterized by the fusion of a duplicated chromosome 4 segment into a deleted part of chromosome 6." (Küttel et al., 2019) In more detail: "a complex structural variant characterized by a ~9.4‐kb deletion . . . and in silico evidence for a duplication of ~1.5 kb about 34 kb farther downstream . . . . Apparently, the duplicated copy of the ~1.5‐kb segment appears inversely inserted at the upstream breakpoint of the ~9.4‐kb deletion . . . . Furthermore, we noticed at the upstream breakpoint of the inversely inserted segment chimeric read pairs in which both ends mapped to chromosome 6 and 4 . . . . The inspection of the sequence coverage of the involved genome region on chromosome 4 indicated a ~310‐kb duplication from 84 864 544 to ~85 174 000 bp". (Küttel et al., 2019)||2019||31294880|
|2019||Küttel, L., Letko, A., Häfliger, I.M., Signer-Hasler, H., Joller, S., Hirsbrunner, G., Mészáros, G., Sölkner, J., Flury, C., Leeb, T., Drögemüller, C., Küttel, L., Letko, A., Häfliger, I.M., Signer-Hasler, H., Joller, S., Hirsbrunner, G., Mészáros, G., Sölkner, J., Flury, C., Leeb, T., Drögemüller, C. :|
|A complex structural variant at the KIT locus in cattle with the Pinzgauer spotting pattern. Anim Genet 50:423-429, 2019. Pubmed reference: 31294880. DOI: 10.1111/age.12821.|
- Created by Frank Nicholas on 21 Sep 2019
- Changed by Frank Nicholas on 21 Sep 2019