Cited by 195Hypothalamic control of reproductive hormonesGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesSperm and Testicular Function

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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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Kim, Hyung-Goo, Ahn, Jang-Won, Kurth, Ingo, Ullmann, Reinhard, Kim, Hyun-Taek, Kulharya, Anita, Ha, Kyung-Soo, Itokawa, Yasuhide, Meliciani, Irene, Wenzel, Wolfgang, 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, Choi, Cheol Yong, Layman, Lawrence C.·2010·The American Journal of Human Genetics

DOI 10.1016/j.ajhg.2010.08.018PMC PMC2948809

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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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Authors: Kim, H.-G., Ahn, J.-W., Kurth, I., Ullmann, R., Kim, H.-T., Kulharya, A., Ha, K.-S., Itokawa, Y., Meliciani, I., Wenzel, W., Lee, D., Rosenberger, G., Ozata, M., Bick, D. P., Sherins, R. J., Nagase, T., Tekin, M., Kim, S.-H., Kim, C.-H., Ropers, H.-H., Gusella, J. F., Kalscheuer, V., Choi, C. Y., & Layman, L. C.
Affiliations: Harvard University (US)
Sungkyunkwan University (KR)
University Medical Center Hamburg-Eppendorf (DE)
Max Planck Institute for Molecular Genetics (DE)
Chungnam National University (KR)
Augusta University (US)
Kazusa DNA Research Institute (JP)
Karlsruhe Institute of Technology (DE)
Medical College of Wisconsin (US)
University of London (GB)
Corresponding author: Kim, Hyung-Goo
Layman, Lawrence C.
ORCID: Kim, Hyung-Goo
Kurth, Ingo
Wenzel, Wolfgang
Rosenberger, Georg
Kim, Soo-Hyun
Kim, Cheol-Hee
Gusella, James F.
Kalscheuer, Vera
Choi, Cheol Yong
Layman, Lawrence C.
Venue: The American Journal of Human Genetics
Publisher: Elsevier BV
Published: 2010-10
Volume: 87
Issue: 4
Pages: 465-479
ISSN: 0002-9297 (ISSN-L)
DOI: 10.1016/j.ajhg.2010.08.018
PMC: PMC2948809
OpenAlex: W2056919029
Cited by: 195
References: 59
Citations by year: 2026: 5 · 2025: 6 · 2024: 8 · 2023: 8 · 2022: 10 · 2021: 14 · 2020: 15 · 2019: 12 · 2018: 9 · 2017: 18 · 2016: 14 · 2015: 16 · 2014: 16 · 2013: 13 · 2012: 16
FWCI: 16.76
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 1056 d)
Locations: The American Journal of Human Genetics (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Max Planck Institute for Plasma Physics (submittedVersion)
Funders: National Institutes of Health
National Institute of General Medical Sciences (GM061354, P01GM061354)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (R29HD033004, R01HD033004, HD040287, K24HD040287, HD 33004)
Topics: Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Health Sciences › Medicine › Reproductive Medicine › Sperm and Testicular Function
Keywords: Emx1, idiopathic hypogonadotropic hypogonadism, Kallmann syndrome, missense mutations, WD domain, protein-protein interaction, homeodomain transcription factor, pubertal development
MeSH terms: Bromodomain Containing Proteins, Empty Spiracles Homeobox Proteins, Adolescent, Animals, Chromosomes, Human, Pair 10, Humans, Hypogonadism, Immunohistochemistry, Male, Membrane Proteins, Proto-Oncogene Proteins, Puberty, Transcription Factors, Translocation, Genetic, Zebrafish, Immunoblotting, In Situ Hybridization, In Situ Hybridization, Fluorescence, Kallmann Syndrome, Homeodomain Proteins, Mutation, Missense, Reverse Transcriptase Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Two-Hybrid System Techniques, Microarray Analysis, Immunoprecipitation, Mice, Rats

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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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