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  WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., et al. (2010). WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. American Society of Human Genetics, 87(4), 465-479. doi:10.1016/j.ajhg.2010.08.018.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7A21-5 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7A22-3
Genre: Journal Article
Alternative Title : Am. J. Hum. Genet.

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 Creators:
Kim, Hyung-Goo, Author
Ahn, Jang-Won, Author
Kurth, Ingo, Author
Ullmann, Reinhard1, Author              
Kim, Hyun-Taek, Author
Kulharya, Anita, Author
Ha, Kyung-Soo, Author
Itokawa, Yasuhide, Author
Meliciani, Irene, Author
Wolfgang Wenzel, Wolfgang Wenzel, Author
Lee, Deresa, Author
Rosenberger, Georg, Author
Ozata, Metin, Author
Bick, David P., Author
Sherins, Richard J., Author
Nagase, Takahiro, Author
Tekin, Mustafa, Author
Kim, Soo-Hyun, Author
Kim, Cheol-Hee, Author
Ropers, Hans-Hilger2, Author              
Gusella, James F., AuthorKalscheuer, Vera M.3, Author              Choi, Cheol Yong, AuthorLayman, Lawrence C., Author more..
Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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 Abstract: By defining the chromosomal breakpoint of a balanced t(10;12) translocation from a subject with Kallmann syndrome and scanning genes in its vicinity in unrelated hypogonadal subjects, we have identified WDR11 as a gene involved in human puberty. We found six patients with a total of five different heterozygous WDR11 missense mutations, including three alterations (A435T, R448Q, and H690Q) in WD domains important for β propeller formation and protein-protein interaction. In addition, we discovered that WDR11 interacts with EMX1, a homeodomain transcription factor involved in the development of olfactory neurons, and that missense alterations reduce or abolish this interaction. Our findings suggest that impaired pubertal development in these patients results from a deficiency of productive WDR11 protein interaction.

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Language(s): eng - English
 Dates: 2010-10-08
 Publication Status: Published in print
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Title: American Society of Human Genetics
  Alternative Title : Am. J. Hum. Genet.
Source Genre: Journal
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Pages: - Volume / Issue: 87 (4) Sequence Number: - Start / End Page: 465 - 479 Identifier: ISSN: 0002-9297