ArticleNucleic acids research2024
Two redundant transcription factor binding sites in a single enhancer are essential for mammalian sex determination.
Article in Nucleic acids research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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Who cites it
10 citing papers in PubMed, 11 citations in OpenAlex.
- Strain-Dependent Functional Variation of a Sex Specific Sox9 Enhancer.Genes to cells : devoted to molecular & cellular mechanisms · 2026Article
- A single-nucleotide enhancer mutation overrides chromosomal sex to drive XX male development.Nature communications · 2026Article
- Female mice grow testes after this single DNA tweak.Nature · 2026Article
- Exploration of Novel Markers in Tan Sheep Spermatogenesis.Animals : an open access journal from MDPI · 2026Article
- Aptamers targeting immune checkpoints for tumor immunotherapy: a comprehensive review.Frontiers in oncology · 2026Review
- Amplification of Ultra-Trace DNA from Early Sheep Embryos Based on qPCR: Establishing a Gender Identification System.Biology · 2025Article
- The gene regulatory landscape driving mouse gonadal supporting cell differentiation.Science advances · 2025Article
- GATA4 binding to the Sox9 enhancer mXYSRa/Enh13 is critical for testis differentiation in mouse.Communications biology · 2025Article
- Gene therapy for disorders of sex development: current applications and future challenges.Frontiers in genetics · 2025Review
- TOX, through a glass, darkly.Frontiers in immunology · 2025Review
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Male development in mammals depends on the activity of the two SOX gene: Sry and Sox9, in the embryonic testis. As deletion of Enhancer 13 (Enh13) of the Sox9 gene results in XY male-to-female sex reversal, we explored the critical elements necessary for its function and hence, for testis and male development. Here, we demonstrate that while microdeletions of individual transcription factor binding sites (TFBS) in Enh13 lead to normal testicular development, combined microdeletions of just two SRY/SOX binding motifs can alone fully abolish Enh13 activity leading to XY male-to-female sex reversal. This suggests that for proper male development to occur, these few nucleotides of non-coding DNA must be intact. Interestingly, we show that depending on the nature of these TFBS mutations, dramatically different phenotypic outcomes can occur, providing a molecular explanation for the distinct clinical outcomes observed in patients harboring different variants in the same enhancer.
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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.