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

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 dupli...

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Vydané v:PLoS genetics Ročník 11; číslo 11; s. e1005678
Hlavní autori: Li, Minghui, Sun, Yunlv, Zhao, Jiue, Shi, Hongjuan, Zeng, Sheng, Ye, Kai, Jiang, Dongneng, Zhou, Linyan, Sun, Lina, Tao, Wenjing, Nagahama, Yoshitaka, Kocher, Thomas D., Wang, Deshou
Médium: Journal Article
Jazyk:English
Vydavateľské údaje: United States Public Library of Science 01.11.2015
Public Library of Science (PLoS)
Predmet:
Analysis
Animals
Animals, Genetically Modified
Anti-Mullerian Hormone - genetics
Cellular signal transduction
Chromosomes
Female
Fish
Gene Duplication
Genes
Genetic Linkage
Hormones
Influence
Male
Mutation
Mutation, Missense
Polymorphism, Single Nucleotide
Sex Determination Processes
Sex determination, Genetic
Sexes
Tilapia - genetics
Transforming growth factors
Y Chromosome
ISSN:1553-7404, 1553-7390, 1553-7404
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Shrnutí: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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Conceived and designed the experiments: DW. Performed the experiments: ML YS JZ SZ KY HS DJ. Analyzed the data: DW TDK ML YS SZ. Contributed reagents/materials/analysis tools: YN DJ YS HS LZ WT LS. Wrote the paper: DW TDK ML.
The authors have declared that no competing interests exist.
ISSN:1553-7404
1553-7390
1553-7404
DOI:10.1371/journal.pgen.1005678