Werewolf, there wolf : Variants in hairless associated with hypotrichia and roaning in the lykoi cat breed

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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 , Lyons , L A , Buckley , R M , Aberdein , D , Garrick , D J , Munday , J S , Alves , P C , Alves , P C , Barsh , G S , Kaelin , C B , Barsh , G S , Kaelin , C B , Bellone , R R , Bergström , T F , Boyko , A R , Brockman , J A , Casal , M L , Castelhano , M G , Todhunter , R J , Wilcox , E A , Distl , O , Dodman , N H , Ellinwood , N M , Garrick , D J , Rothschild , M F , Fogle , J E , Forman , O P , Ginns , E I , Häggström , J , Harvey , R J , Hasegawa , D , Yu , Y , Haase , B , Helps , C R , Hernandez , I , Hytönen , M K , Kaukonen , M , Lohi , H , Kosho , T , Leclerc , E , Lear , T L , Leeb , T , Li , R H L , Longeri , M , Magnuson , M A , Malik , R , Mane , S P , Murphy , W J , Pedersen , N C , Stern , J A , Peterson-Jones , S M , Rusbridge , C , Shapiro , B , Swanson , W F , Terio , K A , Warren , W C & Wildschutte , J H 2020 , ' Werewolf, there wolf : Variants in hairless associated with hypotrichia and roaning in the lykoi cat breed ' , Genes , vol. 11 , no. 6 , 682 . https://doi.org/10.3390/genes11060682

Title: Werewolf, there wolf : Variants in hairless associated with hypotrichia and roaning in the lykoi cat breed
Author: Buckley, Reuben M.; Gandolfi, Barbara; Creighton, Erica K.; Pyne, Connor A.; Bouhan, Delia M.; Leroy, Michelle L.; Senter, David A.; Gobble, Johnny R.; Abitbol, Marie; Lyons, Leslie A.; Lyons, Leslie A.; Buckley, Reuben M.; Aberdein, Danielle; Garrick, Dorian J.; Munday, John S.; Alves, Paulo C.; Alves, Paulo C.; Barsh, Gregory S.; Kaelin, Christopher B.; Barsh, Gregory S.; Kaelin, Christopher B.; Bellone, Rebecca R.; Bergström, Tomas F.; Boyko, Adam R.; Brockman, Jeffrey A.; Casal, Margret L.; Castelhano, Marta G.; Todhunter, Rory J.; Wilcox, Elizabeth A.; Distl, Ottmar; Dodman, Nicholas H.; Ellinwood, N. Matthew; Garrick, Dorian J.; Rothschild, Max F.; Fogle, Jonathan E.; Forman, Oliver P.; Ginns, Edward I.; Häggström, Jens; Harvey, Robert J.; Hasegawa, Daisuke; Yu, Yoshihiko; Haase, Bianca; Helps, Christopher R.; Hernandez, Isabel; Hytönen, Marjo K.; Kaukonen, Maria; Lohi, Hannes; Kosho, Tomoki; Leclerc, Emilie; Lear, Teri L.; Leeb, Tosso; Li, Ronald H.L.; Longeri, Maria; Magnuson, Mark A.; Malik, Richard; Mane, Shrinivasrao P.; Murphy, William J.; Pedersen, Niels C.; Stern, Joshua A.; Peterson-Jones, Simon M.; Rusbridge, Clare; Shapiro, Beth; Swanson, William F.; Terio, Karen A.; Warren, Wesley C.; Wildschutte, Julia H.
Contributor organization: Medicum
Department of Medical and Clinical Genetics
Veterinary Genetics
Veterinary Biosciences
Hannes Tapani Lohi / Principal Investigator
Helsinki One Health (HOH)
Date: 2020-06
Language: eng
Number of pages: 15
Belongs to series: Genes
ISSN: 2073-4425
DOI: https://doi.org/10.3390/genes11060682
URI: http://hdl.handle.net/10138/340615
Abstract: A variety of cat breeds have been developed via novelty selection on aesthetic, dermatological traits, such as coat colors and fur types. A recently developed breed, the lykoi (a.k.a. werewolf cat), was bred from cats with a sparse hair coat with roaning, implying full color and all white hairs. The lykoi phenotype is a form of hypotrichia, presenting as a significant reduction in the average numbers of follicles per hair follicle group as compared to domestic shorthair cats, a mild to severe perifollicular to mural lymphocytic infiltration in 77% of observed hair follicle groups, and the follicles are often miniaturized, dilated, and dysplastic. Whole genome sequencing was conducted on a single lykoi cat that was a cross between two independently ascertained lineages. Comparison to the 99 Lives dataset of 194 non‐lykoi cats suggested two variants in the cat homolog for Hairless (HR) (HR lysine demethylase and nuclear receptor corepressor) as candidate causal gene variants. The lykoi cat was a compound heterozygote for two loss of function variants in HR, an exon 3 c.1255_1256dupGT (chrB1:36040783), which should produce a stop codon at amino acid 420 (p.Gln420Serfs*100) and, an exon 18 c.3389insGACA (chrB1:36051555), which should produce a stop codon at amino acid position 1130 (p.Ser1130Argfs*29). Ascertainment of 14 additional cats from founder lineages from Canada, France and different areas of the USA identified four additional loss of function HR variants likely causing the highly similar phenotypic hair coat across the diverse cats. The novel variants in HR for cat hypotrichia can now be established between minor differences in the phenotypic presentations.
Description: Publisher Copyright: © 2020 by the authors. Licensee MDPI, Basel, Switzerland.
Subject: Atrichia
Domestic cat
Felis catus
413 Veterinary science
Peer reviewed: Yes
Rights: cc_by
Usage restriction: openAccess
Self-archived version: publishedVersion

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