Journal Article

Overexpression of <i>Hr</i> 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 and Sungjoo Kim Yoon

in Human Molecular Genetics

Volume 19, issue 3, pages 445-453
Published in print February 2010 | ISSN: 0964-6906
Published online November 2009 | e-ISSN: 1460-2083 | DOI:
Overexpression of Hr links excessive induction of Wnt signaling to Marie Unna hereditary hypotrichosis

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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.

Journal Article.  5273 words.  Illustrated.

Subjects: Genetics and Genomics

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