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.
Bibliographical noteFunding Information:
This work was supported by the Korea Research Foundation Grant funded by the Korea Government (MOEHRD, Basic Research Promotion Fund) awarded to S.K.Y. (KRF-2003-015-C00540), J.B.Y. and A.R.C. (KRF-2006-005-J04502) and by the Seoul Science Fellowship (2008) to J.K.K.
All Science Journal Classification (ASJC) codes
- Molecular Biology