A single intronic SNP in splicing site of steroidogenic enzyme hsd17b1 is associated with phenotypic sex in oyster pompano, Trachinotus anak

<p>Teleosts show varied master sex determining (MSD) genes and sex determination (SD) mechanisms, with frequent turnovers of sex chromosomes. Tracing the origins of MSD genes and turnovers of sex chromosomes in a taxonomic group is of particular interest in evolutionary biology. Oyster pompano (<em>Trachinotus anak</em>), a marine fish, belongs to the family Carangidae, in which <em>17b-hydroxysteroid dehydrogenase 1</em> (<em>hsd17b1</em>) has repeatedly evolved to a MSD gene. Using whole genome resequencing, a single SNP at Chromosome 24 was identified to be strictly associated with phenotypic sex, with females being the heterozygous sex. This SNP is located in a splicing site at the first exon/intron boundary of <em>hsd17b1</em>. The Z-linked SNP results in malfunction of all spliced isoforms, whereas the W-linked isoforms were predicted to have open reading frames (ORF) that are conserved among vertebrates, suggesting that <em>hsd17b1</em> is a female determining gene. The differential alternative splicing patterns of ZZ and ZW genotypes were consistently observed both in undifferentiated stages and differentiated gonads. We observed elevated recombination around the SD locus and no differentiation between Z and W chromosomes. The extreme diversity of mutational mechanisms that <em>hsd17b1</em> evolves to a MSD gene highlights frequent <em>in situ</em> turnovers between sex chromosomes in the Carangidae.</p>