ArticleProceedings of the National Academy of Sciences of the United States of America2011
Loss-of-function mutation in GATA4 causes anomalies of human testicular development.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 160 citations in OpenAlex.
- Associations of GATA4 genetic mutations with the risk of congenital heart disease: A meta-analysis.Medicine · 2017Pooled it
- GATA4 Single-Amino Acid Deletion in a Male Patient With Congenital Heart Defects, Differences of Sex Development, and Diaphragmatic Hernia.Clinical genetics · 2026Article
- Close relationship, similar phenotype of GATA4 and NR5A1 mutations: gonadal dysgenesis and puberty development.Journal of endocrinological investigation · 2025Article
- Targeting SOX9: designing a novel vaccine against triple-negative breast cancer.Scientific reports · 2025Article
- Building a human pluripotent stem cell-based gonadal niche: improving in vitro systems with in vivo insights.Human reproduction update · 2025Review
- A Chromosome Inversion Creates a Supergene for Sex and Colour in Lake Malawi Cichlids.Molecular ecology · 2025Article
- Introduction to androgenetics: terminology, approaches, and impactful studies across 60 years.Andrology · 2025Review
- Anti-Müllerian hormone in PCOS: Molecular regulation and emerging therapeutic strategies.Biomolecules & biomedicine · 2025Review
- How relevant is the mouse model for understanding human sex determination?International journal of biological sciences · 2025Article
- Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a <italic>SEMA3E</italic> Loss-of-Function Variant.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2025Article
- Genetic variants and molecular profiling of 46,XY gonadal dysgenesis using whole-exome sequencing.Frontiers in endocrinology · 2025Article
- Review
- 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
- ALDH1A2-related disorder: A new genetic syndrome due to alteration of the retinoic acid pathway.American journal of medical genetics. Part A · 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
- Review
- Early Gonadal Development and Sex Determination in Mammal.International journal of molecular sciences · 2022Review
- Transcriptional control of human gametogenesis.Human reproduction update · 2022Article
- Testicular Sertoli Cell Hormones in Differences in Sex Development.Frontiers in endocrinology · 2022Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Approximately 1 of every 250 newborns has some abnormality of genital and/or gonadal development. However, a specific molecular cause is identified in only 20% of these cases of disorder of sex development (DSD). We identified a family of French origin presenting with 46,XY DSD and congenital heart disease. Sequencing of the ORF of GATA4 identified a heterozygous missense mutation (p.Gly221Arg) in the conserved N-terminal zinc finger of GATA4. This mutation was not observed in 450 ancestry-matched control individuals. The mutation compromised the ability of the protein to bind to and transactivate the anti-Müllerian hormone (AMH) promoter. The mutation does not interfere with the direct protein-protein interaction, but it disrupts synergistic activation of the AMH promoter by GATA4 and NR5A1. The p.Gly221Arg mutant protein also failed to bind to a known protein partner FOG2 that is essential for gonad formation. Our data demonstrate the key role of GATA4 in human testicular development.
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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.