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Overexpression of Hr links excessive induction of Wnt signaling to Marie Unna hereditary hypotrichosis.

Authors :
Kim JK
Kim E
Baek IC
Kim BK
Cho AR
Kim TY
Song CW
Seong JK
Yoon JB
Stenn KS
Parimoo S
Yoon SK
Source :
Human molecular genetics [Hum Mol Genet] 2010 Feb 01; Vol. 19 (3), pp. 445-53. Date of Electronic Publication: 2009 Nov 06.
Publication Year :
2010

Abstract

Marie Unna hereditary hypotrichosis (MUHH) is a rare autosomal dominant hair disorder. Through the study of a mouse model, we identified a mutation in the 5'-untranslated region of the hairless (HR) gene in patients with MUHH in a Caucasian family. The corresponding mutation, named 'hairpoor', was found in mutant mice that were generated through N-ethyl-N-nitrosourea mutagenesis. Hairpoor mouse mutants display partial hair loss at an early age and progress to near alopecia, which resembles the MUHH phenotype. This mutation conferred overexpression of HR through translational derepression and, in turn, decreased the expression of Sfrp2, an inhibitor of the Wnt signaling pathway. This study indicates that the gain in function of HR also results in alopecia, as seen with the loss of function of HR, via abnormal upregulation of the Wnt signaling pathway.

Details

Language :
English
ISSN :
1460-2083
Volume :
19
Issue :
3
Database :
MEDLINE
Journal :
Human molecular genetics
Publication Type :
Academic Journal
Accession number :
19897589
Full Text :
https://doi.org/10.1093/hmg/ddp509