ArticleProceedings of the National Academy of Sciences of the United States of America2018
ZNRF3 functions in mammalian sex determination by inhibiting canonical WNT signaling.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed, 117 citations in OpenAlex.
- Characterizing 46,XY Differences of Sex Development: Novel Genetic Variants and Diagnostic Pitfalls in a Single-Center Cohort.Biochemical genetics · 2026Article
- Loss of ZNRF3/RNF43 unleashes EGFR in cancer.eLife · 2026Article
- Before the East African Radiation: Sex Chromosome Systems in Basal Haplotilapiine Cichlids.Genome biology and evolution · 2026Article
- Checking assumptions: advancing the analysis of sex and gender in health sciences.Biology of sex differences · 2026Review
- ZNRF3 in neurodevelopmental disorders: insights into Wnt signaling and therapeutic potential.Neurogenetics · 2025Review
- Review
- How relevant is the mouse model for understanding human sex determination?International journal of biological sciences · 2025Article
- Gonadal sex reversal at single-cell resolution in Znrf3-deficient mice.Development (Cambridge, England) · 2024Article
- Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signaling.American journal of human genetics · 2024Article
- Letter to the Editor From Janot et al: « Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia ».The Journal of clinical endocrinology and metabolism · 2024Article
- Inhibition of WNT/β-catenin signalling during sex-specific gonadal differentiation is essential for normal human fetal testis development.Cell communication and signaling : CCS · 2024Article
- Inefficient Sox9 upregulation and absence of Rspo1 repression lead to sex reversal in the B6.XYTIR mouse gonad†.Biology of reproduction · 2024Article
- β-catenin mediates growth defects induced by centrosome loss in a subset of APC mutant colorectal cancer independently of p53.PloS one · 2024Article
- Partial male-to-female reprogramming of mouse fetal testis by Sertoli cell ablation.Development (Cambridge, England) · 2023Article
- Biased precursor ingression underlies the center-to-pole pattern of male sex determination in mouse.Development (Cambridge, England) · 2023Article
- 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
- Two Novel Heterozygous Variants in RecA2 Domain of DHX37 Cause 46,XY Gonadal Dysgenesis and Testicular Regression Syndrome.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2023Article
- Effects of paternal methionine supplementation on sperm DNA methylation and embryo transcriptome in sheep.Environmental epigenetics · 2023Article
- Factors within the Developing Embryo and Ovarian Microenvironment That Influence Primordial Germ Cell Fate.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2023Review
- The foundational framework of tumors: Gametogenesis, p53, and cancer.Seminars in cancer biology · 2022Review
Corrections and comments
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Authors and funding
22 authors at 8 institutions in 6 countries.
Funding
Abstract
Mammalian sex determination is controlled by the antagonistic interactions of two genetic pathways: The SRY-SOX9-FGF9 network promotes testis determination partly by opposing proovarian pathways, while RSPO1/WNT-β-catenin/FOXL2 signals control ovary development by inhibiting SRY-SOX9-FGF9. The molecular basis of this mutual antagonism is unclear. Here we show that ZNRF3, a WNT signaling antagonist and direct target of RSPO1-mediated inhibition, is required for sex determination in mice. XY mice lacking ZNRF3 exhibit complete or partial gonadal sex reversal, or related defects. These abnormalities are associated with ectopic WNT/β-catenin activity and reduced
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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.