ArticlePloS one2011
Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations.
Article in PloS one, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
29 citing papers in PubMed, 70 citations in OpenAlex.
- A conserved function of Human DLC3 andeLife · 2022Article
- A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands.Frontiers in endocrinology · 2022Article
- Tenuous Transcriptional Threshold of Human Sex Determination. I. SRY and Swyer Syndrome at the Edge of Ambiguity.Frontiers in endocrinology · 2022Article
- Oestrogen Activates the MAP3K1 Cascade and β-Catenin to Promote Granulosa-like Cell Fate in a Human Testis-Derived Cell Line.International journal of molecular sciences · 2021Article
- Towards improved genetic diagnosis of human differences of sex development.Nature reviews. Genetics · 2021Review
- A novelClinical case reports · 2021Article
- Integrated mRNA and miRNA expression profile analysis of female and male gonads in Hyriopsis cumingii.Scientific reports · 2021Article
- Estrogen suppresses SOX9 and activates markers of female development in a human testis-derived cell line.BMC molecular and cell biology · 2020Article
- Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development).International journal of molecular sciences · 2020Review
- Disorders of Sexual Development: Current Status and Progress in the Diagnostic Approach.Current urology · 2020Review
- The evolutionary process of mammalian sex determination genes focusing on marsupial SRYs.BMC evolutionary biology · 2018Article
- A Case with late onset of ambiguous genitalia.International journal of reproductive biomedicine · 2017Article
- Human Sex Determination at the Edge of Ambiguity: INHERITED XY SEX REVERSAL DUE TO ENHANCED UBIQUITINATION AND PROTEASOMAL DEGRADATION OF A MASTER TRANSCRIPTION FACTOR.The Journal of biological chemistry · 2016Article
- miR-138 suppresses cell proliferation and invasion by inhibiting SOX9 in hepatocellular carcinoma.American journal of translational research · 2016Article
- Structure-function relationships in human testis-determining factor SRY: an aromatic buttress underlies the specific DNA-bending surface of a high mobility group (HMG) box.The Journal of biological chemistry · 2014Article
- Gonad transcriptome analysis of pearl oyster Pinctada margaritifera: identification of potential sex differentiation and sex determining genes.BMC genomics · 2014Article
- Testicular differentiation factor SF-1 is required for human spleen development.The Journal of clinical investigation · 2014Article
- Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2013Article
- Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Microsatellite-encoded domain in rodent Sry functions as a genetic capacitor to enable the rapid evolution of biological novelty.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundIn human embryogenesis, loss of SRY (sex determining region on Y), SOX9 (SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex development (DSD). A defining event of vertebrate sex determination is male-specific upregulation and maintenance of SOX9 expression in gonadal pre-Sertoli cells, which is preceded by transient SRY expression in mammals. In mice, Sox9 regulation is under the transcriptional control of SRY, SF1 and SOX9 via a conserved testis-specific enhancer of Sox9 (TES). Regulation of SOX9 in human sex determination is however poorly understood. METHODOLOGY/PRINCIPAL
findingsWe show that a human embryonal carcinoma cell line (NT2/D1) can model events in presumptive Sertoli cells that initiate human sex determination. SRY associates with transcriptionally active chromatin in NT2/D1 cells and over-expression increases endogenous SOX9 expression. SRY and SF1 co-operate to activate the human SOX9 homologous TES (hTES), a process dependent on phosphorylated SF1. SOX9 also activates hTES, augmented by SF1, suggesting a mechanism for maintenance of SOX9 expression by auto-regulation. Analysis of mutant SRY, SF1 and SOX9 proteins encoded by thirteen separate 46,XY DSD gonadal dysgenesis individuals reveals a reduced ability to activate hTES. CONCLUSIONS/SIGNIFICANCE: We demonstrate how three human sex-determining factors are likely to function during gonadal development around SOX9 as a hub gene, with different genetic causes of 46,XY DSD due a common failure to upregulate SOX9 transcription.
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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.