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

Jeong Ki Kim, Eunmin Kim, In Cheol Baek, Bong Kyu Kim, A. Ri Cho, Tae Yoon Kim, Chang Woo Song, Je Kyung Seong, Jong Bok Yoon, Kurt S. Stenn, Satish Parimoo, Sungjoo Kim Yoon

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26 Citations (Scopus)


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.

Original languageEnglish
Article numberddp509
Pages (from-to)445-453
Number of pages9
JournalHuman molecular genetics
Issue number3
Publication statusPublished - 2009 Nov 6

Bibliographical note

Funding 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
  • Genetics
  • Genetics(clinical)


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