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WDR11, a WD Protein that Interacts with Transcription Factor EMX1, Is Mutated in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome
Open accessAbstract
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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“These genes affect GnRH neuronal migration and are associated with hypogonadotropic hypogonadism with anosmia, or Kallmann’s syndrome (table).35,46,47,53,88–90”
From Pubertal development and regulation (2016) · cites this paper as [89]
In the citing paper
“Many other genes have been identified in association with developmental defects in GnRH neurons.”
From Pubertal development and regulation (2016) · cites this paper as [89]
Citations
Cites
The GPR54 Gene as a Regulator of Puberty
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Self-citationHypogonadotropic hypogonadism due to loss of function of the KiSS1-derived peptide receptor GPR54
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Metastasis suppressor gene KiSS-1 encodes peptide ligand of a G-protein-coupled receptor
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KiSS-1, a Novel Human Malignant Melanoma Metastasis-Suppressor Gene
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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
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The Physiology of Gonadotropin-Releasing Hormone (GnRH) Secretion in Men and Women
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Bassik, M. C., Kampmann, M., Lebbink, R. J., Wang, S., Hein, M. Y., Poser, I., Weibezahn, J., Horlbeck, M. A., Chen, S., Mann, M., et al. (2013) · Cell · doi:10.1016/j.cell.2013.01.030 · Cited by 365
Metadata
- 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
- 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)
- 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
- 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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