ArticlePLoS genetics2012
A trans-species missense SNP in Amhr2 is associated with sex determination in the tiger pufferfish, Takifugu rubripes (fugu).
Article in PLoS genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 264 papers, 3 of them syntheses that pooled it.
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Who cites it
264 citing papers in PubMed, 3 syntheses or guidelines pooled it, 634 citations in OpenAlex.
- A lizard is never late: Squamate genomics as a recent catalyst for understanding sex chromosome and microchromosome evolution.The Journal of heredity · 2023Pooled it
- Sex-specific differences in zebrafish brains.Biology of sex differences · 2022Pooled it
- Plant sex chromosomes defy evolutionary models of expanding recombination suppression and genetic degeneration.Nature plants · 2021Pooled it
- A helix-loop-helix gene orchestrates male fate in common carp.Science advances · 2026Article
- Sex Determination in Sponges.Molecular reproduction and development · 2026Review
- Molecular Characterization and Functional Analysis ofInternational journal of molecular sciences · 2026Article
- Whole-genome Resequencing Reveals the Sex Determination System and Develops a Sex-specific Marker in Fat Greenling (Hexagrammos otakii).Marine biotechnology (New York, N.Y.) · 2026Article
- GWAS-Identified SNPs and Candidate Genes Influencing Sex in Loach (Animals : an open access journal from MDPI · 2026Article
- Polymorphisms and Expression Characteristics of theAnimals : an open access journal from MDPI · 2026Article
- Sexes Are Polymorphisms: Describing and Understanding Sexual Diversity as Phenotypic Variation.Integrative and comparative biology · 2026Review
- Evidence for <italic>sult1st6y</italic> as a Major Candidate Sex-Determining Gene in Pacific Bluefin Tuna.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2026Article
- RNA binding protein RBM20 regulates turtle temperature-dependent sex determination by repressing the splicing ofScience advances · 2025Article
- Haplotype-resolved genomics identifiesiScience · 2025Article
- Identification of a sex-determining region potentially involved in resolving genetic conflicts over sex ratio.Biology letters · 2025Article
- A Chromosome Inversion Creates a Supergene for Sex and Colour in Lake Malawi Cichlids.Molecular ecology · 2025Article
- Transposable Element-Mediated Cis-Regulation Drives the Evolution of dmrt1 as a Candidate Master Sex-Determining Gene in Black Carp.Molecular biology and evolution · 2025Article
- An Extension of Muller's Sheltering Hypothesis for the Evolution of Sex Chromosome Gene Content.Molecular biology and evolution · 2025Article
- Extensive Recombination Suppression and Genetic Degeneration of a Young ZW Sex Chromosome System in Halfbeak Fish.Molecular biology and evolution · 2025Article
- The potential regulatory role of non-coding RNAs in mifepristone-induced masculinization in Takifugu rubripes gonads.BMC genomics · 2025Article
- Reconstruction of the X and Y haplotypes in the genetically improved Abbassa nile tilapia genome assembly.Scientific reports · 2025Article
204 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heterogametic sex chromosomes have evolved independently in various lineages of vertebrates. Such sex chromosome pairs often contain nonrecombining regions, with one of the chromosomes harboring a master sex-determining (SD) gene. It is hypothesized that these sex chromosomes evolved from a pair of autosomes that diverged after acquiring the SD gene. By linkage and association mapping of the SD locus in fugu (Takifugu rubripes), we show that a SNP (C/G) in the anti-Müllerian hormone receptor type II (Amhr2) gene is the only polymorphism associated with phenotypic sex. This SNP changes an amino acid (His/Asp384) in the kinase domain. While females are homozygous (His/His384), males are heterozygous. Sex in fugu is most likely determined by a combination of the two alleles of Amhr2. Consistent with this model, the medaka hotei mutant carrying a substitution in the kinase domain of Amhr2 causes a female phenotype. The association of the Amhr2 SNP with phenotypic sex is conserved in two other species of Takifugu but not in Tetraodon. The fugu SD locus shows no sign of recombination suppression between X and Y chromosomes. Thus, fugu sex chromosomes represent an unusual example of proto-sex chromosomes. Such undifferentiated X-Y chromosomes may be more common in vertebrates than previously thought.
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