OMIA:001583-9685 : Hypotrichosis, with whiskers short and curled in Felis catus
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 615896 (trait) , 608245 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2010
Species-specific name: Sphynx hairless; Atrichia
Species-specific symbol: hr
Inheritance: Gandolfi et al. (2010) suggested that the allelic hierarchy is best represented as KRT71(+) > KRT71(hr) > KRT71(re), where + is wild-type, hr is Sphynx hairless and re is Devon rex
Molecular basis: Gandolfi et al. (2010) showed that this hypotrichosis mutation (also known as Sphynx hairless) and the Devon rex Curly mutation (OMIA 001581) are both due to mutations in the KRT71 gene which encodes keratin 71.
Clinical features: Sphynx cats have abnormal hair shafts, with deficits in both Henle’s and Huxley’s layer of the inner root sheath and the dermal papillae, accompanied by small, curved hair follicles (Genovese et al., 2014; Mota-Rojas et al., 2021). The resulting follicular dysplasia has been attributed to the mutated form of keratin 71, ultimately giving rise to the hairless appearance of Sphynx cats (Gandolfi et al., 2010; Genovese et al., 2014). This absence of hair impedes thermoregulation by reducing insulation, making Sphynx cats sensitive to temperature extremes (Mota-Rojas et al., 2021). Sphynx cats are also prone to greasiness of the skin and higher carriage of cutaneous Malassezia (yeast) than DSH cats, attributed to their almost-hairlessness (Åhman and Bergström, 2009).
IT thanks DVM student Georgia Giles, who provided the basis of this contribution in May 2023.
Breed: Sphynx (Cat) (VBO_0100230).
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|KRT71||keratin 71, type II||Felis catus||B4||NC_058374.1 (78946430..78936910)||KRT71||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|
|382||Sphynx (Cat)||Sphynx hairless||KRT71||splicing||Naturally occurring variant||Felis_catus_9.0||B4||g.81048680C>T||c.816+1G>A||2010||20953787||Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool|
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||Mota-Rojas, D., Titto, C.G., de Mira Geraldo, A., Martínez-Burnes, J., Gómez, J., Hernández-Ávalos, I., Casas, A., Domínguez, A., José, N., Bertoni, A., Reyes, B., Pereira, A.M.F. :|
|Efficacy and function of feathers, hair, and glabrous skin in the thermoregulation strategies of domestic animals. Animals (Basel) 11:3472, 2021. Pubmed reference: 34944249 . DOI: 10.3390/ani11123472.|
|2015||Lyons, L.A. :|
|DNA mutations of the cat: The good, the bad and the ugly. J Feline Med Surg 17:203-19, 2015. Pubmed reference: 25701860 . DOI: 10.1177/1098612X15571878.|
|2014||Genovese, D.W., Johnson, T.L., Lamb, K.E., Gram, W.D. :|
|Histological and dermatoscopic description of sphynx cat skin. Vet Dermatol 25:523-9, e89-90, 2014. Pubmed reference: 25109701 . DOI: 10.1111/vde.12162.|
|2010||Gandolfi, B., Outerbridge, CA., Beresford, LG., Myers, JA., Pimentel, M., Alhaddad, H., Grahn, JC., Grahn, RA., Lyons, LA. :|
|The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71. Mamm Genome 21:509-15, 2010. Pubmed reference: 20953787 . DOI: 10.1007/s00335-010-9290-6.|
|2009||Ahman, S.E., Bergström, K.E. :|
|Cutaneous carriage of Malassezia species in healthy and seborrhoeic Sphynx cats and a comparison to carriage in Devon Rex cats. J Feline Med Surg 11:970-6, 2009. Pubmed reference: 19559635 . DOI: 10.1016/j.jfms.2009.04.011.|
|1984||Hendy-Ibbs, PM. :|
|Hairless cats in Great Britain. J Hered 75:506-7, 1984. Pubmed reference: 6512243 .|
|1973||Robinson, R. :|
|The Canadian hairless or Sphinx cat. J Hered 64:47-9, 1973. Pubmed reference: 4698915 .|
|1937||Sternberger, H. :|
|A "cat-dog" from North Carolina: hairless gene or "maternal impression"? Journal of Heredity 28:115-116 , 1937.|
|1934||Carpentier, C.J. :|
|Un chat nu Rev. Zootech 10:298-300, 1934.|
|1933||Letard, E. :|
|La naissance et la disparation d'une mutation au sujet d'un couple de chats nus Rev. Vet. J. Med. Vet. 85:545-552, 1933.|
- Created by Frank Nicholas on 20 Jul 2011
- Changed by Frank Nicholas on 07 Oct 2011
- Changed by Frank Nicholas on 09 Dec 2011
- Changed by Frank Nicholas on 18 Jun 2013
- Changed by Imke Tammen2 on 03 May 2023