WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Hyung-Goo Kim; Jang-Won Ahn; Ingo Kurth; Reinhard Ullmann; Hyun-Taek Kim; Anita Kulharya; Kyung-Soo Ha; Yasuhide Itokawa; Irene Meliciani; Wolfgang Wenzel; Deresa Lee; Georg Rosenberger; Metin Ozata; David P Bick; Richard J Sherins; Takahiro Nagase; Mustafa Tekin; Soo-Hyun Kim; Cheol-Hee Kim; Hans-Hilger Ropers; James F Gusella; Vera Kalscheuer; Cheol Yong Choi; Lawrence C Layman

doi:10.1016/j.ajhg.2010.08.018

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WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

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WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome

Hyung-Goo Kim, Jang-Won Ahn, Ingo Kurth, Reinhard Ullmann, Hyun-Taek Kim, Anita Kulharya, Kyung-Soo Ha, Yasuhide Itokawa, Irene Meliciani, Wolfgang Wenzel, …

American journal of human genetics, Vol.87(4), pp.465-479

2010-10-08

DOI: https://doi.org/10.1016/j.ajhg.2010.08.018

PMCID: PMC2948809

PMID: 20887964

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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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.164 Endocrinology & Metabolism; 1.164.613 GnRH
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Title: WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
Creators: Hyung-Goo Kim - 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
Jang-Won Ahn - Department of Biological Science, Sungkyunkwan University, Suwon 440-746, Korea
Ingo Kurth - Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, Hamburg 20246, Germany
Reinhard Ullmann - Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, Berlin 14195, Germany
Hyun-Taek Kim - Department of Biology and Graduate School of Analytical Science and Technolgy, Chungnam National University, Daejeon 305-764, Korea
Anita Kulharya - Departments of Pediatrics and Pathology, Medical College of Georgia, 1120 15th Street, Augusta, Georgia 30912, USA
Kyung-Soo Ha - Medical College of Georgia Cancer Center, Augusta, Georgia, 30912 USA
Yasuhide Itokawa - Department of Human Genome Research, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari, Kisarazu, Chiba 292-0818, Japan
Irene Meliciani - Forschungszentrum Karlsruhe, Institute for Nanotechnology, PO Box 3640, Karlsruhe, 76021 Germany
Wolfgang Wenzel - Forschungszentrum Karlsruhe, Institute for Nanotechnology, PO Box 3640, Karlsruhe, 76021 Germany
Deresa Lee - Department of Biological Science, Sungkyunkwan University, Suwon 440-746, Korea
Georg Rosenberger - Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, Hamburg 20246, Germany
Metin Ozata - Gulhane Military Medical Academy, Haydarpasa Training Hospital, Department of Endocrinology, Istanbul, 34660 Turkey
David P Bick - Division of Medical Genetics, Departments of Pediatrics and Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
Richard J Sherins - Director of Andrology, Columbia Fertility Associates, Washington, DC 20037, USA
Takahiro Nagase - Department of Human Genome Research, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari, Kisarazu, Chiba 292-0818, Japan
Mustafa Tekin - Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida 33156, USA
Soo-Hyun Kim - Division of Basic Medical Sciences, St. George's Medical School, University of London, London SW17 0RE United Kingdom
Cheol-Hee Kim - Department of Biology and Graduate School of Analytical Science and Technolgy, Chungnam National University, Daejeon 305-764, Korea
Hans-Hilger Ropers - Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, Berlin 14195, Germany
James F Gusella - Center for Human Genetic Research, Massachusetts General Hospital and Department of Genetics, Harvard Medical School, Boston, Massachusetts 02114, USA
Vera Kalscheuer - Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, Berlin 14195, Germany
Cheol Yong Choi - Department of Biological Science, Sungkyunkwan University, Suwon 440-746, Korea
Lawrence C Layman - 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
Publication Details: American journal of human genetics, Vol.87(4), pp.465-479
Publisher: Elsevier Inc
Academic Unit: Miller School of Medicine; UMMG Dept of Human Genetics - Clinical and Translational Genetics; UMMG Dept of Human Genetics (Dr. John T. Macdonald Foundation)
Language: English
Resource Type: Journal article
PMID: 20887964
PMCID: PMC2948809
Record Identifier: 991031577498902976