OMIA 002229-9685 : Hypotrichosis, HR-related in Felis catus
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|HRhairless||Felis catus||-||no genomic information (-..-)||HRhairless||Ensembl|
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.
|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|
|Lykoi||Hypotrichia and Roaning||HRhairless||hr^TN||duplication||Felis_catus_9.0||B1||g.36040783dupGT||c.1255_1256dupGT||p.(Gln420Serfs*100)||2020||32580512|
|Lykoi||Hypotrichia and Roaning||HRhairless||hr^Fr||splicing||Felis_catus_9.0||B1||g.36040933delTinsGT||c.1404+2delTinsGT||"This variant should extend and change the reading frame, including an additional 24 amino acids in the aberrant protein before a stop codon is recognized. Alternatively, a cryptic splice site may be used from within intron 4." (Buckley et al., 2020)||2020||32580512|
|Lykoi||Hypotrichia and Roaning||HRhairless||hr^TX||splicing||Felis_catus_9.0||B1||g.36045776G>A||c.2112G>A||"This variant likely disrupts the splice donor allowing read-through for an additional 12 amino acids until a stop codon is encountered and is designated hrTX allele. Alternatively, a cryptic splice site may be used from within intron 8." (Buckley et al., 2020)||2020||32580512|
|Lykoi||Hypotrichia and Roaning||HRhairless||hr^NC||nonsense (stop-gain)||Felis_catus_9.0||B1||g.36047047C>T||c.2243C>T||p.(Arg748X)||2020||32580512|
|Lykoi||Hypotrichia and Roaning||HRhairless||hr^Ca||nonsense (stop-gain)||Felis_catus_9.0||B1||g.36047518C>T||c.2593C>T||p. (Gln865X)||2020||32580512|
|Lykoi||Hypotrichia and Roaning||HRhairless||hr^VA||insertion, small (<=20)||Felis_catus_9.0||B1||g.36051556insGACA||c.3389insGACA||p.(Ser1130Argfs*29)||2020||32580512|
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||Buckley, R.M., Gandolfi, B., Creighton, E.K., Pyne, C.A., Bouhan, D.M., LeRoy, M.L., Senter, D.A., Gobble, J.R., Abitbol, M., Lyons, L.A. :|
|Werewolf, There Wolf: Variants in <i>Hairless</i> Associated with Hypotrichia and Roaning in the Lykoi Cat Breed. Genes (Basel) 11:, 2020. Pubmed reference: 32580512. DOI: 10.3390/genes11060682.|
|2016||LeRoy, M.L., Senter, D.A., Kim, D.Y., Gandolfi, B., Middleton, J.R., Trainor, K.E., Bouhan, D.M., Lyons, L.A. :|
|Clinical and Histologic Description of Lykoi Cat Hair Coat and Skin Japanese Journal of Veterinary Dermatology 22:179-191, 2016.|
- Created by Frank Nicholas on 27 Jan 2020
- Changed by Frank Nicholas on 27 Jan 2020
- Changed by Frank Nicholas on 30 Jun 2020