ArticleMolecular and cellular endocrinology2016
Alternative splicing of DENND1A, a PCOS candidate gene, generates variant 2.
Article in Molecular and cellular endocrinology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 37 citations in OpenAlex.
- Developmental and functional landscape of theca cells in ovarian biology.Biological research · 2026Review
- Review
- POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS).Reproduction (Cambridge, England) · 2025Review
- Gene regulatory activity associated with polycystic ovary syndrome revealed DENND1A-dependent testosterone production.Nature communications · 2025Article
- DENND1A desensitizes granulosa cells to FSH by arresting intracellular FSHR transportation.Science China. Life sciences · 2024Article
- An Evolutionary Model for the Ancient Origins of Polycystic Ovary Syndrome.Journal of clinical medicine · 2023Article
- Single-Cell RNA-Seq Identifies Pathways and Genes Contributing to the Hyperandrogenemia Associated with Polycystic Ovary Syndrome.International journal of molecular sciences · 2023Article
- Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification.Endocrine reviews · 2022Article
- Transgenic Mouse Models to Study the Development and Maintenance of the Adrenal Cortex.International journal of molecular sciences · 2022Review
- The Role of Genetics, Epigenetics and Lifestyle in Polycystic Ovary Syndrome Development: the State of the Art.Reproductive sciences (Thousand Oaks, Calif.) · 2022Review
- Polycystic ovary syndrome as a plausible evolutionary outcome of metabolic adaptation.Reproductive biology and endocrinology : RB&E · 2022Review
- Distinct subtypes of polycystic ovary syndrome with novel genetic associations: An unsupervised, phenotypic clustering analysis.PLoS medicine · 2020Article
- The contribution of rare genetic variants to the pathogenesis of polycystic ovary syndrome.Current opinion in endocrine and metabolic research · 2020Article
- Human DENND1A.V2 DrivesInternational journal of molecular sciences · 2020Article
- Recent advances in mammalian reproductive biology.Science China. Life sciences · 2020Review
- Could perturbed fetal development of the ovary contribute to the development of polycystic ovary syndrome in later life?PloS one · 2020Article
- Colocalization of Polycystic Ovary Syndrome Candidate Gene Products in Theca Cells Suggests Novel Signaling Pathways.Journal of the Endocrine Society · 2019Article
- Pathophysiologic mechanisms of obesity- and chronic inflammation-related genes in etiology of polycystic ovary syndrome.Iranian journal of basic medical sciences · 2019Review
- Prenatal androgen exposure and transgenerational susceptibility to polycystic ovary syndrome.Nature medicine · 2019Article
- Family-Based Quantitative Trait Meta-Analysis Implicates Rare Noncoding Variants in DENND1A in Polycystic Ovary Syndrome.The Journal of clinical endocrinology and metabolism · 2019Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Polycystic ovary syndrome (PCOS) is a common endocrinopathy characterized by hyperandrogenism and metabolic disorders. The excess androgens may be of both ovarian and adrenal origin. PCOS has a strong genetic component, and genome-wide association studies have identified several candidate genes, notably DENND1A, which encodes connecdenn 1, involved in trafficking of endosomes. DENND1A encodes two principal variants, V1 (1009 amino acids) and V2 (559 amino acids). The androgen-producing ovarian theca cells of PCOS women over-express V2. Knockdown of V2 in these cells reduces androgen production, and overexpression of V2 in normal theca cells confers upon them a PCOS phenotype of increased androgen synthesis. We report that human adrenal NCI-H295A cells express V1 and V2 mRNA and that the V2 isoform is produced by exonization of sequences in intron 20, which generates a unique exon 20A, encoding the C-terminus of V2. As in human theca cells from normal women, forced expression of V2 in NCI-H295A cells resulted in increased abundance of CYP17A1 and CYP11A1 mRNAs. We also found genetic variation in the intronic region 330 bp upstream from exon 20A, which could have the potential to drive the selective expression of V2. There was no clear association with these variants with PCOS when we analyzed genomc DNA from normal women and women with PCOS. Using minigene expression vectors in NCI-H295A cells, this variable region did not consistently favor splicing of the V2 transcript. These findings suggest increased V2 expression in PCOS theca cells is not the result of genomic sequence variation in intron 20.
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