ArticlePLoS genetics2015
A Tandem Duplicate of Anti-Müllerian Hormone with a Missense SNP on the Y Chromosome Is Essential for Male Sex Determination in Nile Tilapia, Oreochromis niloticus.
Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 176 papers, 1 of them a synthesis that pooled it.
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176 citing papers in PubMed, 1 synthesis or guideline pooled it, 421 citations in OpenAlex.
- Sex-specific differences in zebrafish brains.Biology of sex differences · 2022Pooled it
- A helix-loop-helix gene orchestrates male fate in common carp.Science advances · 2026Article
- The Role ofInternational journal of molecular sciences · 2026Article
- Dietary pine pollen induces masculinization in Nile tilapia (Oreochromis niloticus, L. 1758) by modulating sex-biased gene expression and steroid hormone profiles.Biology of sex differences · 2026Article
- Transposons drove the evolution of a male sex-determining gene from a female gene with deep introgression across cichlids.Science advances · 2026Article
- Sex Determination in Sponges.Molecular reproduction and development · 2026Review
- Molecular Characterization and Functional Analysis ofInternational journal of molecular sciences · 2026Article
- Gonadal Transcriptomic Atlas Reveals Conserved and Sex-Biased Regulatory Networks in Black-Spotted Croaker (Protonibea diacanthus).Marine biotechnology (New York, N.Y.) · 2026Article
- Evaluation of season and sex specific differential gonadal transcriptomics in Himalayan snow trout Schizothorax plagiostomus, Heckel, 1838.Scientific reports · 2026Article
- Before the East African Radiation: Sex Chromosome Systems in Basal Haplotilapiine Cichlids.Genome biology and evolution · 2026Article
- Regulation of the amh gene promoter activity by SF-1 in sex-reversing Cheilinus undulatus and its adaptive evolution.BMC genomics · 2026Article
- GWAS-Identified SNPs and Candidate Genes Influencing Sex in Loach (Animals : an open access journal from MDPI · 2026Article
- Comparative RNA-Seq Analysis of Differentially Expressed Genes in the Testis and Ovary of Mudskipper,Animals : an open access journal from MDPI · 2026Article
- amh alleles on XY sex chromosomes regulate male differentiation in amphidiploid Carassius auratus.Science China. Life sciences · 2026Article
- Cyprinid Juji (Gobiocypris rarus) as a model fish to study germ cell development and gonadal differentiation.Communications biology · 2025Article
- Gap-Free T2T assemblies of Micropterus salmoides identify a Y-Linked SV hotspot underlying sexual dimorphism.BMC genomics · 2025Article
- Differential expression of reproduction and sex-determining genes in the gonads of genotypic and temperature-induced males of gibel carp (Carassius gibelio).Scientific reports · 2025Article
- RNA binding protein RBM20 regulates turtle temperature-dependent sex determination by repressing the splicing ofScience advances · 2025Article
- A Y-linked duplication of anti-Mullerian hormone is the sex determination gene in threespine stickleback.PLoS genetics · 2025Article
- Genome-wide investigation of the dmrt gene family reveals new insight into the gonad development in Plectropomus leopardus: dmrt2a regulate the development of oocytes.Biology of sex differences · 2025Article
116 more citing papers are in PubMed but not listed here.
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13 authors at 3 institutions in 3 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Variation in the TGF-β signaling pathway is emerging as an important mechanism by which gonadal sex determination is controlled in teleosts. Here we show that amhy, a Y-specific duplicate of the anti-Müllerian hormone (amh) gene, induces male sex determination in Nile tilapia. amhy is a tandem duplicate located immediately downstream of amhΔ-y on the Y chromosome. The coding sequence of amhy was identical to the X-linked amh (amh) except a missense SNP (C/T) which changes an amino acid (Ser/Leu92) in the N-terminal region. amhy lacks 5608 bp of promoter sequence that is found in the X-linked amh homolog. The amhΔ-y contains several insertions and deletions in the promoter region, and even a 5 bp insertion in exonVI that results in a premature stop codon and thus a truncated protein product lacking the TGF-β binding domain. Both amhy and amhΔ-y expression is restricted to XY gonads from 5 days after hatching (dah) onwards. CRISPR/Cas9 knockout of amhy in XY fish resulted in male to female sex reversal, while mutation of amhΔ-y alone could not. In contrast, overexpression of Amhy in XX fish, using a fosmid transgene that carries the amhy/amhΔ-y haplotype or a vector containing amhy ORF under the control of CMV promoter, resulted in female to male sex reversal, while overexpression of AmhΔ-y alone in XX fish could not. Knockout of the anti-Müllerian hormone receptor type II (amhrII) in XY fish also resulted in 100% complete male to female sex reversal. Taken together, these results strongly suggest that the duplicated amhy with a missense SNP is the candidate sex determining gene and amhy/amhrII signal is essential for male sex determination in Nile tilapia. These findings highlight the conserved roles of TGF-β signaling pathway in fish sex determination.
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