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

Research output: Contribution to journalArticle

19 Citations (Scopus)

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.

Original languageEnglish
Article numberddp509
Pages (from-to)445-453
Number of pages9
JournalHuman Molecular Genetics
Volume19
Issue number3
DOIs
Publication statusPublished - 2009 Nov 6

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Alopecia
Wnt Signaling Pathway
Mutation
Ethylnitrosourea
5' Untranslated Regions
Mutagenesis
Hair
Up-Regulation
Phenotype
Genes
Marie Unna congenital hypotrichosis

All Science Journal Classification (ASJC) codes

  • Molecular Biology
  • Genetics
  • Genetics(clinical)

Cite this

Kim, J. K., Kim, E., Baek, I. C., Kim, B. K., Cho, A. R., Kim, T. Y., ... Yoon, S. K. (2009). Overexpression of Hr links excessive induction of Wnt signaling to Marie Unna hereditary hypotrichosis. Human Molecular Genetics, 19(3), 445-453. [ddp509]. https://doi.org/10.1093/hmg/ddp509
Kim, Jeong Ki ; Kim, Eunmin ; Baek, In Cheol ; Kim, Bong Kyu ; Cho, A. Ri ; Kim, Tae Yoon ; Song, Chang Woo ; Seong, Je Kyung ; Yoon, Jong-Bok ; Stenn, Kurt S. ; Parimoo, Satish ; Yoon, Sungjoo Kim. / Overexpression of Hr links excessive induction of Wnt signaling to Marie Unna hereditary hypotrichosis. In: Human Molecular Genetics. 2009 ; Vol. 19, No. 3. pp. 445-453.
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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.",
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Kim, JK, Kim, E, Baek, IC, Kim, BK, Cho, AR, Kim, TY, Song, CW, Seong, JK, Yoon, J-B, Stenn, KS, Parimoo, S & Yoon, SK 2009, 'Overexpression of Hr links excessive induction of Wnt signaling to Marie Unna hereditary hypotrichosis', Human Molecular Genetics, vol. 19, no. 3, ddp509, pp. 445-453. https://doi.org/10.1093/hmg/ddp509

Overexpression of Hr links excessive induction of Wnt signaling to Marie Unna hereditary hypotrichosis. / Kim, Jeong Ki; Kim, Eunmin; Baek, In Cheol; Kim, Bong Kyu; Cho, A. Ri; Kim, Tae Yoon; Song, Chang Woo; Seong, Je Kyung; Yoon, Jong-Bok; Stenn, Kurt S.; Parimoo, Satish; Yoon, Sungjoo Kim.

In: Human Molecular Genetics, Vol. 19, No. 3, ddp509, 06.11.2009, p. 445-453.

Research output: Contribution to journalArticle

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AU - Kim, Jeong Ki

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AU - Kim, Bong Kyu

AU - Cho, A. Ri

AU - Kim, Tae Yoon

AU - Song, Chang Woo

AU - Seong, Je Kyung

AU - Yoon, Jong-Bok

AU - Stenn, Kurt S.

AU - Parimoo, Satish

AU - Yoon, Sungjoo Kim

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