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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 533112.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
Authors:Kim, Hyung-Goo; Ahn, Jang-Won; Kurth, Ingo; Ullmann, Reinhard; Kim, Hyun-Taek; Kulharya, Anita; Ha, Kyung-Soo; Itokawa, Yasuhide; Meliciani, Irene; Wolfgang Wenzel, Wolfgang Wenzel; Lee, Deresa; Rosenberger, Georg; Ozata, Metin; Bick, David P.; Sherins, Richard J.; Nagase, Takahiro; Tekin, Mustafa; Kim, Soo-Hyun; Kim, Cheol-Hee; Ropers, Hans-Hilger; Gusella, James F.; Kalscheuer, Vera M.; Choi, Cheol Yong; Layman, Lawrence C.
Language:English
Research Context:We acknowledge support by the Landesstiftung Baden-Würtemberg, the Deutsche Akademische Austauschdienst (German Academic Exchange Service) and the volunteers of POEM@HOME. This study was supported in part by a Korea Science and Engineering Foundation (KOSEF) grant funded by the government of the Republic of Korea (The Ubiquitome Research Program, 2009-00983 to C.Y.C.) J.F.G. was supported by National Institutes of Health grant GM061354 for the Developmental Genome Anatomy Project. We also acknowledge support to L.C.L. from National Institutes of Health grants HD33004 and HD040287.
Date of Publication (YYYY-MM-DD):2010-10-08
Title of Journal:American Society of Human Genetics
Journal Abbrev.:Am. J. Hum. Genet.
Volume:87
Issue / Number:4
Start Page:465
End Page:479
Copyright:© 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Review Status:not specified
Audience:Experts Only
Abstract / Description: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.
External Publication Status:published
Document Type:Article
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Section of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology; Reproductive Medicine and Developmental Neurobiology Programs in the Institute of Molecular Medicine and Genetics; and Neuroscience Program, Medical College of Georgia, 1120 15th Street, Augusta, Georgia 30912, USA;
2.Department of Biological Science, Sungkyunkwan University, Suwon 440-746, Korea;
3.Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, Hamburg 20246, Germany;
4.Department of Biology and Graduate School of Analytical Science and Technolgy, Chungnam National University, Daejeon 305-764, Korea;
5.Departments of Pediatrics and Pathology, Medical College of Georgia, 1120 15th Street, Augusta, Georgia 30912, USA;
6.Medical College of Georgia Cancer Center, Augusta, Georgia,USA;
7.Department of Human Genome Research, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari, Kisarazu, Chiba 292-0818, Japan;
8.Forschungszentrum Karlsruhe, Institute for Nanotechnology, PO Box 3640, Karlsruhe, 76021 Germany;
9.Gulhane Military Medical Academy, Haydarpasa Training Hospital, Department of Endocrinology, Istanbul, 34660 Turkey;
10.Division of Medical Genetics, Departments of Pediatrics and Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA;
11.Director of Andrology, Columbia Fertility Associates, Washington, DC 20037, USA;
12.Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida 33156, USA;
13. Division of Basic Medical Sciences, St. George's Medical School, University of London, London SW17 0RE United Kingdom;
14.Center for Human Genetic Research, Massachusetts General Hospital and Department of Genetics, Harvard Medical School, Boston, Massachusetts 02114, USA;
15.Jena University Hospital, Institute of Human Genetics, Jena 07743 Germany;
16.Division of Pediatric Genetics, Ankara University School of Medicine, Ankara 06610, Turkey.
Identifiers:URL:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC275655...
ISSN:0002-9297
DOI:10.1016/j.ajhg.2010.08.018
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