WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
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 h...
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| Published in | American journal of human genetics Vol. 87; no. 4; pp. 465 - 479 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Cambridge, MA
Elsevier Inc
08.10.2010
Cell Press Elsevier |
| Subjects | |
| Online Access | Get full text |
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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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| AbstractList | 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 beta 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. 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.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. 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. [PUBLICATION 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. 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. |
| Author | Kim, Hyung-Goo Sherins, Richard J. Meliciani, Irene Layman, Lawrence C. Kulharya, Anita Gusella, James F. Lee, Deresa Kim, Hyun-Taek Kurth, Ingo Ha, Kyung-Soo Wenzel, Wolfgang Bick, David P. Tekin, Mustafa Kim, Soo-Hyun Itokawa, Yasuhide Ropers, Hans-Hilger Kim, Cheol-Hee Kalscheuer, Vera Choi, Cheol Yong Ozata, Metin Rosenberger, Georg Nagase, Takahiro Ullmann, Reinhard Ahn, Jang-Won |
| AuthorAffiliation | 16 Jena University Hospital, Institute of Human Genetics, Jena 07743 Germany 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 15 th Street, Augusta, Georgia 30912, USA 17 Division of Pediatric Genetics, Ankara University School of Medicine, Ankara 06610, Turkey 9 Forschungszentrum Karlsruhe, Institute for Nanotechnology, PO Box 3640, Karlsruhe, 76021 Germany 14 Division of Basic Medical Sciences, St. George's Medical School, University of London, London SW17 0RE United Kingdom 7 Medical College of Georgia Cancer Center, Augusta, Georgia, 30912 USA 4 Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, Berlin 14195, Germany 8 Department of Human Genome Research, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari |
| AuthorAffiliation_xml | – name: 9 Forschungszentrum Karlsruhe, Institute for Nanotechnology, PO Box 3640, Karlsruhe, 76021 Germany – name: 10 Gulhane Military Medical Academy, Haydarpasa Training Hospital, Department of Endocrinology, Istanbul, 34660 Turkey – name: 5 Department of Biology and Graduate School of Analytical Science and Technolgy, Chungnam National University, Daejeon 305-764, Korea – name: 3 Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, Hamburg 20246, Germany – name: 17 Division of Pediatric Genetics, Ankara University School of Medicine, Ankara 06610, Turkey – name: 6 Departments of Pediatrics and Pathology, Medical College of Georgia, 1120 15 th Street, Augusta, Georgia 30912, USA – name: 16 Jena University Hospital, Institute of Human Genetics, Jena 07743 Germany – name: 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 15 th Street, Augusta, Georgia 30912, USA – name: 7 Medical College of Georgia Cancer Center, Augusta, Georgia, 30912 USA – name: 13 Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida 33156, USA – name: 4 Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, Berlin 14195, Germany – name: 15 Center for Human Genetic Research, Massachusetts General Hospital and Department of Genetics, Harvard Medical School, Boston, Massachusetts 02114, USA – name: 14 Division of Basic Medical Sciences, St. George's Medical School, University of London, London SW17 0RE United Kingdom – name: 8 Department of Human Genome Research, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari, Kisarazu, Chiba 292-0818, Japan – name: 12 Director of Andrology, Columbia Fertility Associates, Washington, DC 20037, USA – name: 2 Department of Biological Science, Sungkyunkwan University, Suwon 440-746, Korea – name: 11 Division of Medical Genetics, Departments of Pediatrics and Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA |
| Author_xml | – sequence: 1 givenname: Hyung-Goo surname: Kim fullname: Kim, Hyung-Goo email: hkim@chgr.mgh.harvard.edu organization: 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 – sequence: 2 givenname: Jang-Won surname: Ahn fullname: Ahn, Jang-Won organization: Department of Biological Science, Sungkyunkwan University, Suwon 440-746, Korea – sequence: 3 givenname: Ingo surname: Kurth fullname: Kurth, Ingo organization: Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, Hamburg 20246, Germany – sequence: 4 givenname: Reinhard surname: Ullmann fullname: Ullmann, Reinhard organization: Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, Berlin 14195, Germany – sequence: 5 givenname: Hyun-Taek surname: Kim fullname: Kim, Hyun-Taek organization: Department of Biology and Graduate School of Analytical Science and Technolgy, Chungnam National University, Daejeon 305-764, Korea – sequence: 6 givenname: Anita surname: Kulharya fullname: Kulharya, Anita organization: Departments of Pediatrics and Pathology, Medical College of Georgia, 1120 15th Street, Augusta, Georgia 30912, USA – sequence: 7 givenname: Kyung-Soo surname: Ha fullname: Ha, Kyung-Soo organization: Medical College of Georgia Cancer Center, Augusta, Georgia, 30912 USA – sequence: 8 givenname: Yasuhide surname: Itokawa fullname: Itokawa, Yasuhide organization: Department of Human Genome Research, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari, Kisarazu, Chiba 292-0818, Japan – sequence: 9 givenname: Irene surname: Meliciani fullname: Meliciani, Irene organization: Forschungszentrum Karlsruhe, Institute for Nanotechnology, PO Box 3640, Karlsruhe, 76021 Germany – sequence: 10 givenname: Wolfgang surname: Wenzel fullname: Wenzel, Wolfgang organization: Forschungszentrum Karlsruhe, Institute for Nanotechnology, PO Box 3640, Karlsruhe, 76021 Germany – sequence: 11 givenname: Deresa surname: Lee fullname: Lee, Deresa organization: Department of Biological Science, Sungkyunkwan University, Suwon 440-746, Korea – sequence: 12 givenname: Georg surname: Rosenberger fullname: Rosenberger, Georg organization: Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Martinistrasse 52, Hamburg 20246, Germany – sequence: 13 givenname: Metin surname: Ozata fullname: Ozata, Metin organization: Gulhane Military Medical Academy, Haydarpasa Training Hospital, Department of Endocrinology, Istanbul, 34660 Turkey – sequence: 14 givenname: David P. surname: Bick fullname: Bick, David P. organization: Division of Medical Genetics, Departments of Pediatrics and Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA – sequence: 15 givenname: Richard J. surname: Sherins fullname: Sherins, Richard J. organization: Director of Andrology, Columbia Fertility Associates, Washington, DC 20037, USA – sequence: 16 givenname: Takahiro surname: Nagase fullname: Nagase, Takahiro organization: Department of Human Genome Research, Kazusa DNA Research Institute, 2-6-7 Kazusa-Kamatari, Kisarazu, Chiba 292-0818, Japan – sequence: 17 givenname: Mustafa surname: Tekin fullname: Tekin, Mustafa organization: Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, Florida 33156, USA – sequence: 18 givenname: Soo-Hyun surname: Kim fullname: Kim, Soo-Hyun organization: Division of Basic Medical Sciences, St. George's Medical School, University of London, London SW17 0RE United Kingdom – sequence: 19 givenname: Cheol-Hee surname: Kim fullname: Kim, Cheol-Hee organization: Department of Biology and Graduate School of Analytical Science and Technolgy, Chungnam National University, Daejeon 305-764, Korea – sequence: 20 givenname: Hans-Hilger surname: Ropers fullname: Ropers, Hans-Hilger organization: Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, Berlin 14195, Germany – sequence: 21 givenname: James F. surname: Gusella fullname: Gusella, James F. organization: Center for Human Genetic Research, Massachusetts General Hospital and Department of Genetics, Harvard Medical School, Boston, Massachusetts 02114, USA – sequence: 22 givenname: Vera surname: Kalscheuer fullname: Kalscheuer, Vera organization: Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, Berlin 14195, Germany – sequence: 23 givenname: Cheol Yong surname: Choi fullname: Choi, Cheol Yong organization: Department of Biological Science, Sungkyunkwan University, Suwon 440-746, Korea – sequence: 24 givenname: Lawrence C. surname: Layman fullname: Layman, Lawrence C. email: llayman@mcg.edu organization: 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 |
| BackLink | http://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23296983$$DView record in Pascal Francis https://www.ncbi.nlm.nih.gov/pubmed/20887964$$D View this record in MEDLINE/PubMed |
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| Copyright | 2010 The American Society of Human Genetics 2015 INIST-CNRS Copyright © 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. Copyright Cell Press Oct 8, 2010 2010 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2010 The American Society of Human Genetics |
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| Issue | 4 |
| Keywords | Endocrinopathy Human Hypogonadotropic hypogonadism Nervous system diseases Hypothalamic diseases Idiopathic Kallmann syndrome Protein Genetic disease Genital diseases Cerebral disorder Malformation Central nervous system disease ENT disease Genetics Transcription factor |
| Language | English |
| License | http://www.elsevier.com/open-access/userlicense/1.0 https://www.elsevier.com/tdm/userlicense/1.0 https://www.elsevier.com/open-access/userlicense/1.0 CC BY 4.0 Copyright © 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved. |
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| Snippet | 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... 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... |
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| SubjectTerms | Adolescent Animals Biological and medical sciences Breakpoints Chromosomes Chromosomes, Human, Pair 10 - genetics Endocrinopathies Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genes Genetics Genetics of eukaryotes. Biological and molecular evolution Homeodomain Proteins - genetics Humans Hypogonadism - genetics Hypothalamus. Hypophysis. Epiphysis (diseases) Immunoblotting Immunohistochemistry Immunoprecipitation In Situ Hybridization In Situ Hybridization, Fluorescence Kallmann Syndrome - genetics Male Medical genetics Medical sciences Membrane Proteins - genetics Membrane Proteins - metabolism Mice Microarray Analysis Molecular and cellular biology Mutation Mutation, Missense - genetics Non tumoral diseases. Target tissue resistance. Benign neoplasms Polymorphism, Single Nucleotide - genetics Proteins Proto-Oncogene Proteins - genetics Proto-Oncogene Proteins - metabolism Puberty Puberty - genetics Rats Reverse Transcriptase Polymerase Chain Reaction Transcription Factors - genetics Translocation, Genetic - genetics Two-Hybrid System Techniques Zebrafish |
| Title | WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome |
| URI | https://dx.doi.org/10.1016/j.ajhg.2010.08.018 https://www.ncbi.nlm.nih.gov/pubmed/20887964 https://www.proquest.com/docview/758282106 https://www.proquest.com/docview/757177957 https://www.proquest.com/docview/954614355 https://pubmed.ncbi.nlm.nih.gov/PMC2948809 |
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