ArticleJournal of clinical research in pediatric endocrinology2016
Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1.
Article in Journal of clinical research in pediatric endocrinology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 27 citations in OpenAlex.
- Genetics of Idiopathic Hypogonadotropic HypogonadismJournal of clinical research in pediatric endocrinology · 2026Review
- The cyclic nucleotide binding sites of Swiss-Cheese, thebioRxiv : the preprint server for biology · 2025Article
- Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.Orphanet journal of rare diseases · 2024Article
- Article
- New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.Archives of medical science : AMS · 2022Article
- Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.Frontiers in genetics · 2022Article
- Article
- The Differential Roles for Neurodevelopmental and Neuroendocrine Genes in Shaping GnRH Neuron Physiology and Deficiency.International journal of molecular sciences · 2021Review
- Molecular genetic diagnostics of hypogonadotropic hypogonadism: from panel design towards result interpretation in clinical practice.Human genetics · 2021Review
- Expression quantitative trait loci-derived scores and white matter microstructure in UK Biobank: a novel approach to integrating genetics and neuroimaging.Translational psychiatry · 2020Article
- GnRH Deficient Patients With Congenital Hypogonadotropic Hypogonadism: Novel Genetic Findings inFrontiers in endocrinology · 2020Article
- Disease-Associated PNPLA6 Mutations Maintain Partial Functions When Analyzed inFrontiers in neuroscience · 2019Article
- Genetics of male infertility.Nature reviews. Urology · 2018Review
- New Insights Into the Long Non-coding RNA SRA: Physiological Functions and Mechanisms of Action.Frontiers in medicine · 2018Review
- Update on the Genetics of Idiopathic Hypogonadotropic Hypogonadism.Journal of clinical research in pediatric endocrinology · 2017Review
- Whole exome sequencing and trio analysis to broaden the variant spectrum of genes in idiopathic hypogonadotropic hypogonadism.Asian journal of andrologyArticle
Corrections and comments
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Authors and funding
15 authors at 4 institutions in 3 countries.
Funding
Abstract
objectiveWhat initiates the pubertal process in humans and other mammals is still unknown. We hypothesized that gene(s) taking roles in triggering human puberty may be identified by studying a cohort of idiopathic hypogonadotropic hypogonadism (IHH).
methodsA cohort of IHH cases was studied based on autozygosity mapping coupled with whole exome sequencing.
resultsOur studies revealed three independent families in which IHH/delayed puberty is associated with inactivating SRA1 variants. SRA1 was the first gene to be identified to function through its protein as well as noncoding functional ribonucleic acid products. These products act as co-regulators of nuclear receptors including sex steroid receptors as well as SF-1 and LRH-1, the master regulators of steroidogenesis. Functional studies with a mutant SRA1 construct showed a reduced co-activation of ligand-dependent activity of the estrogen receptor alpha, as assessed by luciferase reporter assay in HeLa cells.
conclusionOur findings strongly suggest that SRA1 gene function is required for initiation of puberty in humans. Furthermore, SRA1 with its alternative products and functionality may provide a potential explanation for the versatility and complexity of the pubertal process.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.