A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds : a candidate gene for human alopecia conditions

Show full item record



Permalink

http://hdl.handle.net/10138/303976

Citation

Hytönen , M K & Lohi , H 2019 , ' A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds : a candidate gene for human alopecia conditions ' , Human Genetics , vol. 138 , no. 5 , pp. 535-539 . https://doi.org/10.1007/s00439-019-02005-9

Title: A frameshift insertion in SGK3 leads to recessive hairlessness in Scottish Deerhounds : a candidate gene for human alopecia conditions
Author: Hytönen, Marjo K.; Lohi, Hannes
Contributor: University of Helsinki, Department of Medical and Clinical Genetics
University of Helsinki, Hannes Tapani Lohi / Principal Investigator
Date: 2019-05
Language: eng
Number of pages: 5
Belongs to series: Human Genetics
ISSN: 0340-6717
URI: http://hdl.handle.net/10138/303976
Abstract: Hairlessness is a breed-specific feature selected for in some dog breeds but a rare abnormality in some others such as Scottish Deerhounds (SD). In SDs, the affected puppies are born with sparse hair but lose it within the first 2months leaving the dogs completely hairless. The previous studies have implicated variants in FOXI3 and SGK3 in hairlessness; however, the known variants do not explain hairlessness in all breeds such as SDs. We investigated the genetic cause in 66 SDs, including a litter with two hairless dogs. We utilized a combined approach of genome-wide homozygosity mapping and whole-genome sequencing of a hairless SD followed by recessive filtering according to a recessive model against 340 control genomes. Only two homozygous-coding variants were discovered in the homozygosity regions, including a 1-bp insertion in exon 2 of SGK3. This results in a predicted frameshift and very early truncation (49/490 amino acids) of the SGK3 protein. Additional screening of the recessive variant demonstrated a full segregation with the hairlessness and a 12% carrier frequency in the SD breed. The variant was not found in the related Irish Wolfhound breed. This study identifies the second hairless variant in the SGK3 gene in dogs and further highlights its role as a candidate gene for androgen-independent hair loss or alopecia in human.
Subject: FOXI3
PROTEIN
SERUM
DIFFERENTIATION
MUTATION
GROWTH
3111 Biomedicine
1184 Genetics, developmental biology, physiology
Rights:


Files in this item

Total number of downloads: Loading...

Files Size Format View
Hyt_nen_Lohi201 ... iftInsertionInSGK3Lead.pdf 1015.Kb PDF View/Open

This item appears in the following Collection(s)

Show full item record