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Heparan sulfate 6-O-sulfotransferase 1 , a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism
Open accessAbstract
Neuronal development is the result of a multitude of neural migrations, which require extensive cell-cell communication. These processes are modulated by extracellular matrix components, such as heparan sulfate (HS) polysaccharides. HS is molecularly complex as a result of nonrandom modifications of the sugar moieties, including sulfations in specific positions. We report here mutations in HS 6-O-sulfotransferase 1 (HS6ST1) in families with idiopathic hypogonadotropic hypogonadism (IHH). IHH manifests as incomplete or absent puberty and infertility as a result of defects in gonadotropin-releasing hormone neuron development or function. IHH-associated HS6ST1 mutations display reduced activity in vitro and in vivo, suggesting that HS6ST1 and the complex modifications of extracellular sugars are critical for normal development in humans. Genetic experiments in Caenorhabditis elegans reveal that HS cell-specifically regulates neural branching in vivo in concert with other IHH-associated genes, including kal-1, the FGF receptor, and FGF. These findings are consistent with a model in which KAL1 can act as a modulatory coligand with FGF to activate the FGF receptor in an HS-dependent manner.
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“Many other genes have been identified in association with developmental defects in GnRH neurons.”
From Pubertal development and regulation (2016) · cites this paper as [88]
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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 [88]
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Metadata
- Authors
- Tornberg, J., Sykiotis, G. P., Keefe, K., Plummer, L., Hoang, X., Hall, J. E., Quinton, R., Seminara, S. B., Hughes, V., Van Vliet, G., Van Uum, S., Crowley, W. F., Habuchi, H., Kimata, K., Pitteloud, N., & Bülow, H. E.
- Affiliations
- Albert Einstein College of Medicine (US)
- Harvard University (US)
- Newcastle University (GB)
- Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montreal, QC, Canada H3T 1C5;
- Department of Medicine, Lawson Health Research Institute, University of Western Ontario, London, ON, Canada N6A 4V2; and
- Aichi Medical University (JP)
- ORCID
- Venue
- Proceedings of the National Academy of Sciences
- Publisher
- National Academy of Sciences
- Published
- 2011-06-23
- Volume
- 108
- Issue
- 28
- Pages
- 11524-11529
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- PMC
- PMC3136273
- OpenAlex
- W2098762562
- Cited by
- 177
- References
- 43
- Citations by year
- 2026: 9 · 2025: 7 · 2024: 2 · 2023: 4 · 2022: 13 · 2021: 17 · 2020: 11 · 2019: 11 · 2018: 11 · 2017: 9 · 2016: 17 · 2015: 19 · 2014: 19 · 2013: 15 · 2012: 10
- FWCI
- 16.57
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Proceedings of the National Academy of Sciences (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- IRIS (submittedVersion)
- SERVAL (Université de Lausanne) (submittedVersion)
- Funders
- Japan Society for the Promotion of Science (23570148)
- National Center for Research Resources (UL1RR025758, M01RR001066)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD015788, R01HD056264, R01HD055380, U54HD028138)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Proteoglycans and glycosaminoglycans research
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Keywords
- idiopathic hypogonadotropic hypogonadism, heparan sulfate sulfation, extracellular matrix, GnRH neurons, neuronal migration, fibroblast growth factor receptor, FGF signaling, Caenorhabditis elegans, genetic mutations
- MeSH terms
- Adult, Amino Acid Sequence, Animals, Child, Female, Humans, Hypogonadism, Male, Middle Aged, Models, Molecular, Molecular Sequence Data, Mutation, Nerve Tissue Proteins, Pedigree, Species Specificity, Sulfotransferases, Extracellular Matrix Proteins, Caenorhabditis elegans, Genes, Helminth, Sequence Homology, Amino Acid, Kallmann Syndrome, Receptors, Fibroblast Growth Factor, Amino Acid Substitution, Mutation, Missense, Caenorhabditis elegans Proteins, Intercellular Signaling Peptides and Proteins, Receptor, Fibroblast Growth Factor, Type 1, In Vitro Techniques
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