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Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice
Open accessAbstract
Idiopathic hypogonadotropic hypogonadism (IHH) with anosmia (Kallmann syndrome; KS) or with a normal sense of smell (normosmic IHH; nIHH) are heterogeneous genetic disorders associated with deficiency of gonadotropin-releasing hormone (GnRH). While loss-of-function mutations in FGF receptor 1 (FGFR1) cause human GnRH deficiency, to date no specific ligand for FGFR1 has been identified in GnRH neuron ontogeny. Using a candidate gene approach, we identified 6 missense mutations in FGF8 in IHH probands with variable olfactory phenotypes. These patients exhibited varied degrees of GnRH deficiency, including the rare adult-onset form of hypogonadotropic hypogonadism. Four mutations affected all 4 FGF8 splice isoforms (FGF8a, FGF8b, FGF8e, and FGF8f), while 2 mutations affected FGF8e and FGF8f isoforms only. The mutant FGF8b and FGF8f ligands exhibited decreased biological activity in vitro. Furthermore, mice homozygous for a hypomorphic Fgf8 allele lacked GnRH neurons in the hypothalamus, while heterozygous mice showed substantial decreases in the number of GnRH neurons and hypothalamic GnRH peptide concentration. In conclusion, we identified FGF8 as a gene implicated in GnRH deficiency in both humans and mice and demonstrated an exquisite sensitivity of GnRH neuron development to reductions in FGF8 signaling.
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“Mutations in the gene FGF8, which encodes one of the many ligands of FGFR-1, have recently been linked to Kallmann syndrome.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [20]
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“This finding suggests that FGF-8 is the FGFR-1 ligand responsible for GnRH neuronal development and/or migration.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [20]
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Cites
The GPR54 Gene as a Regulator of Puberty
Seminara, S. B., Messager, S., Chatzidaki, E. E., Thresher, R. R., Acierno, J. S., Shagoury, J. K., Bo-Abbas, Y., Kuohung, W., Schwinof, K. M., Hendrick, A. G., et al. (2003) · New England Journal of Medicine · doi:10.1056/nejmoa035322 · Cited by 2,557
Receptor Specificity of the Fibroblast Growth Factor Family
Ornitz, D. M., Xu, J., Colvin, J. S., McEwen, D. G., MacArthur, C. A., Coulier, F., Gao, G., & Goldfarb, M. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.25.15292 · Cited by 1,871
Dynamics of gonadotropin-releasing hormone release during a pulse.
Moenter, S. M., Brand, R. M., MIDGLEY, A. R., & Karsch, F. J. (1992) · Endocrinology · doi:10.1210/endo.130.1.1727719 · Cited by 1,257
Schlessinger, J., Plotnikov, A. N., Ibrahimi, O. A., Eliseenkova, A. V., Yeh, B. K., Yayon, A., Linhardt, R. J., & Mohammadi, M. (2000) · Molecular Cell · doi:10.1016/s1097-2765(00)00073-3 · Cited by 1,199
Self-citationCrossley, P. H., & Martin, G. R. (1995) · Development · doi:10.1242/dev.121.2.439 · Cited by 1,185
Receptor Specificity of the Fibroblast Growth Factor Family
Zhang, X., Ibrahimi, O. A., Olsen, S. K., Umemori, H., Mohammadi, M., & Ornitz, D. M. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m601252200 · Cited by 1,164
Self-citationAn Fgf8 mutant allelic series generated by Cre- and Flp-mediated recombination
Meyers, E., Lewandoski, M., & Martin, G. (1998) · Nature Genetics · doi:10.1038/ng0298-136 · Cited by 1,126
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
Dodé, C., Levilliers, J., Dupont, J., Paepe, A. D., Dû, N. L., Soussi‐Yanicostas, N., Coimbra, R. S., Delmaghani, S., Nouaille, S., Baverel, F., et al. (2003) · Nature Genetics · doi:10.1038/ng1122 · Cited by 839
Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 Loci
Kajiwara, K., Berson, E. L., & Dryja, T. P. (1994) · Science · doi:10.1126/science.8202715 · Cited by 783
Structural basis for fibroblast growth factor receptor activation
Mohammadi, M., Olsen, S. K., & Ibrahimi, O. A. (2005) · Cytokine & Growth Factor Reviews · doi:10.1016/j.cytogfr.2005.01.008 · Cited by 761
Self-citation
Research works printed but not linked: 5
- Herbison, A.E. 2006. Physiology of the GnRH neuronal network. InKnobil and Neill’s physiology of reproduction. 3rd edition. J.D. Neill, editor. Academic Press. San Diego, California, USA. 1415–1482.
- Finkelstein, 1987, Ann. Intern. Med., 104, 777
- 10.1210/jc.86.4.1532 · DOI
- 10.1210/jc.87.1.152 · DOI
- 10.1210/jc.84.3.1028 · DOI
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Metadata
- Authors
- Falardeau, J., Chung, W. C. J., Beenken, A., Raivio, T., Plummer, L., Sidis, Y., Jacobson-Dickman, E. E., Eliseenkova, A. V., Ma, J., Dwyer, A., Quinton, R., Na, S., Hall, J. E., Huot, C., Alois, N., Pearce, S. H. S., Cole, L. W., Hughes, V., Mohammadi, M., Tsai, P., & Pitteloud, N.
- Affiliations
- Harvard University (US)
- University of Colorado Boulder (US)
- New York University (US)
- Newcastle University (GB)
- Centre Hospitalier Universitaire Sainte-Justine (CA)
- Corresponding author
- Pitteloud, Nelly
- ORCID
- Venue
- Journal of Clinical Investigation
- Published
- 2008-08-01
- Volume
- 118
- Issue
- 8
- Pages
- 2822-2831
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC2441855
- OpenAlex
- W2101121629
- Cited by
- 397
- References
- 59
- Citations by year
- 2026: 4 · 2025: 8 · 2024: 11 · 2023: 11 · 2022: 17 · 2021: 16 · 2020: 17 · 2019: 24 · 2018: 13 · 2017: 19 · 2016: 28 · 2015: 27 · 2014: 27 · 2013: 32 · 2012: 25
- FWCI
- 44.77
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Newcastle University ePrints (Newcastle Univesity)
- Funders
- Lastentautien Tutkimussäätiö
- Helsingin Sanomain Säätiö
- National Institutes of Health
- National Institute of Dental and Craniofacial Research (R01DE013686, R01 DE13686-08)
- National Center for Research Resources (M01RR001066)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD015788, R01HD042708, U54HD028138)
- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Fibroblast Growth Factor Research
- Keywords
- FGF8, FGF8b, gonadotropin-releasing hormone deficiency, idiopathic hypogonadotropic hypogonadism, Kallmann syndrome, anosmia, hypothalamus, FGF signaling, missense mutations
- MeSH terms
- Adult, Animals, Olfaction Disorders, Female, Heterozygote, Humans, Hypogonadism, Gonadotropin-Releasing Hormone, Male, Mice, Transgenic, Models, Molecular, Mutation, Neurons, Pedigree, Cohort Studies, Signal Transduction, Case-Control Studies, Kallmann Syndrome, Mice, Fibroblast Growth Factor 8
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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