The detail information of Hypotrichosis, recessive
OMIA Basic Information
Possible human homologues (MIM numbers): -
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2017
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
There are associated breeds.
Associated Gene
Symbol | Description | Species | Position | Other Links |
---|---|---|---|---|
SGK3 | serum/glucocorticoid regulated kinase family, member 3 | Canis lupus familiaris | Chr29 : 16355030 - 16498290 | Homologene, Ensembl, NCBI gene |
References
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 |
Parker,H.G.,Whitaker,D.T.,Harris,A.C.,Ostrander,E.A.: :
Whole Genome Analysis of a Single Scottish Deerhound Dog Family Provides Independent Corroboration That a <i>SGK3</i> Coding Variant Leads to Hairlessness. G3 (Bethesda) 10:293-297, 2020. Pubmed reference: 31727632 . DOI: 10.1534/g3.119.400885 . |
2019 |
Hytönen,M.K.,Lohi,H.: :
A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds: a candidate gene for human alopecia conditions. Hum Genet 138:535-539, 2019. Pubmed reference: 30927068 . DOI: 10.1007/s00439-019-02005-9 . |
2017 |
Parker,H.G.,Harris,A.,Dreger,D.L.,Davis,B.W.,Ostrander,E.A.: :
The bald and the beautiful: hairlessness in domestic dog breeds. Philos Trans R Soc Lond B Biol Sci 372:, 2017. Pubmed reference: 27994129 . DOI: 10.1098/rstb.2015.0488 . |
1988 |
Sponenberg,D.P.,Scott,E.,Scott,W.: :
American hairless terriers: a recessive gene causing hairlessness in dogs. J Hered 79:69, 1988. Pubmed reference: 3367039 . |