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.
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|
|1222||Lykoi||Hypotrichia and Roaning||HRhairless||hr^TN||duplication||Naturally occurring variant||Felis_catus_9.0||B1||g.36040784_36040785dup||c.1255_1256dup||p.(Q420Sfs*100)||ENSFCAT00000012982.5; ENSFCAP00000012037.2; published as c.1255_1256dupGT||2020||32580512|
|1224||Lykoi||Hypotrichia and Roaning||HRhairless||hr^Fr||splicing||Naturally occurring variant||Felis_catus_9.0||B1||g.36040933delinsCAG||c.1404+2delinsCAG||ENSFCAT00000012982.5; ENSFCAP00000012037.2; published as c.1404+2delTinsCAG; changed to HGVS nomenclature in this table; "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|
|1225||Lykoi||Hypotrichia and Roaning||HRhairless||hr^TX||splicing||Naturally occurring variant||Felis_catus_9.0||B1||g.36045776G>A||c.2112G>A||ENSFCAT00000012982.5; ENSFCAP00000012037.2; "This variant likely disrupts the splice donor allowing read-through for an additional 12 amino acids until a stop codon is encountered .... Alternatively, a cryptic splice site may be used from within intron 8." (Buckley et al., 2020)||2020||32580512|
|1226||Lykoi||Hypotrichia and Roaning||HRhairless||hr^NC||nonsense (stop-gain)||Naturally occurring variant||Felis_catus_9.0||B1||g.36047047C>T||c.2243C>T||p.(R748*)||2020||32580512|
|1227||Lykoi||Hypotrichia and Roaning||HRhairless||hr^Ca||nonsense (stop-gain)||Naturally occurring variant||Felis_catus_9.0||B1||g.36047518C>T||c.2593C>T||p.(Q865*)||ENSFCAT00000012982.5; ENSFCAP00000012037.2||2020||32580512|
|1223||Lykoi||Hypotrichia and Roaning||HRhairless||hr^VA||insertion, small (<=20)||Naturally occurring variant||Felis_catus_9.0||B1||g.36051555_36051556insGACA||c.3389_3390insGACA||p.(S1130Rfs*29)||ENSFCAT00000012982.5; ENSFCAP00000012037.2; published as g.36051555insGACA and c.3389insGACA; changed to HGVS nomenclature in this table||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.
|2021||Rodney, A.R., Buckley, R.M., Fulton, R.S., Fronick, C., Richmond, T., Helps, C.R., Pantke, P., Trent, D.J., Vernau, K.M., Munday, J.S., Lewin, A.C., Middleton, R., Lyons, L.A., Warren, W.C. :|
|A domestic cat whole exome sequencing resource for trait discovery. Sci Rep 11:7159, 2021. Pubmed reference: 33785770. DOI: 10.1038/s41598-021-86200-7.|
|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
- Changed by Imke Tammen2 on 16 Jun 2021