Trial reportHuman molecular genetics2018
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies.
Trial report in Human molecular genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 83 citations in OpenAlex.
- Genome-Wide Identification, Evolutionary Analysis and Seasonal Expression Patterns of the Sox Gene Family in the Daurian Ground Squirrel (Veterinary sciences · 2026Article
- Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study.The Journal of clinical endocrinology and metabolism · 2025Article
- Sox8: a multifaceted transcription factor in development and disease.Biology open · 2025Review
- Genetic Landscape of a Cohort of 120 Patients with Diminished Ovarian Reserve: Correlation with Infertility.International journal of molecular sciences · 2024Article
- Skeletal growth is enhanced by a shared role for SOX8 and SOX9 in promoting reserve chondrocyte commitment to columnar proliferation.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Improving diagnostic precision in primary ovarian insufficiency using comprehensive genetic and autoantibody testing.Human reproduction (Oxford, England) · 2024Article
- BiallelicNeurology. Genetics · 2023Article
- The study of a hermaphroditic sheep caused by a mutation in the promoter ofVeterinary and animal science · 2023Article
- Genome-Wide Identification, Evolutionary and Mutational Analysis of the Buffalo Sox Gene Family.Animals : an open access journal from MDPI · 2023Article
- Article
- Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.Reproductive biology and endocrinology : RB&E · 2023Article
- Transposable elements acquire time- and sex-specific transcriptional and epigenetic signatures along mouse fetal gonad development.Frontiers in cell and developmental biology · 2023Article
- Article
- A novel DEAH-box helicase 37 mutation associated with differences of sex development.Frontiers in endocrinology · 2023Article
- Transcriptional control of human gametogenesis.Human reproduction update · 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
- A dominant-negative SOX18 mutant disrupts multiple regulatory layers essential to transcription factor activity.Nucleic acids research · 2021Article
- Genome wide identification, phylogeny, and synteny analysis ofBiotechnology reports (Amsterdam, Netherlands) · 2021Article
- The FKBP4 Gene, Encoding a Regulator of the Androgen Receptor Signaling Pathway, Is a Novel Candidate Gene for Androgen Insensitivity Syndrome.International journal of molecular sciences · 2020Article
- Disorders of Sex Development: Classification, Review, and Impact on Fertility.Journal of clinical medicine · 2020Review
Corrections and comments
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Authors and funding
38 authors at 18 institutions in 9 countries.
Funding
Abstract
SOX8 is an HMG-box transcription factor closely related to SRY and SOX9. Deletion of the gene encoding Sox8 in mice causes reproductive dysfunction but the role of SOX8 in humans is unknown. Here, we show that SOX8 is expressed in the somatic cells of the early developing gonad in the human and influences human sex determination. We identified two individuals with 46, XY disorders/differences in sex development (DSD) and chromosomal rearrangements encompassing the SOX8 locus and a third individual with 46, XY DSD and a missense mutation in the HMG-box of SOX8. In vitro functional assays indicate that this mutation alters the biological activity of the protein. As an emerging body of evidence suggests that DSDs and infertility can have common etiologies, we also analysed SOX8 in a cohort of infertile men (n = 274) and two independent cohorts of women with primary ovarian insufficiency (POI; n = 153 and n = 104). SOX8 mutations were found at increased frequency in oligozoospermic men (3.5%; P < 0.05) and POI (5.06%; P = 4.5 × 10-5) as compared with fertile/normospermic control populations (0.74%). The mutant proteins identified altered SOX8 biological activity as compared with the wild-type protein. These data demonstrate that SOX8 plays an important role in human reproduction and SOX8 mutations contribute to a spectrum of phenotypes including 46, XY DSD, male infertility and 46, XX POI.
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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.