Identification of the master sex determining gene in Northern pike

• Published in: PLoS genetics Vol. 15; no. 8
• Main Authors: Pan, Qiaowei, Feron, Romain, Yano, Ayaka, Guyomard, René, Jouanno, Elodie, Vigouroux, Estelle, Wen, Ming, Busnel, Jean-Mickaël, Bobe, Julien, Concordet, Jean-Paul, Parrinello, Hugues, Journot, Laurent, Klopp, Christophe, Lluch, Jérôme, Roques, Céline, Postlethwait, John, Schartl, Manfred, Herpin, Amaury, Guiguen, Yann
• Format: Journal Article
• Language: English
• Published: Public Library of Science 22.08.2019
• Subjects: Genetic aspects; Identification and classification; Methods; Natural history; Northern pike; Sex chromosomes; Sex determination (Genetics); Switzerland
• ISSN: 1553-7390; 1553-7404
• DOI: 10.1371/journal.pgen.1008013

Teleost fishes, thanks to their rapid evolution of sex determination mechanisms, provide remarkable opportunities to study the formation of sex chromosomes and the mechanisms driving the birth of new master sex determining (MSD) genes. However, the evolutionary interplay between the sex chromosomes and the MSD genes they harbor is rather unexplored. We characterized a male-specific duplicate of the anti-Müllerian hormone (amh) as the MSD gene in Northern Pike (Esox lucius), using genomic and expression evidence as well as by loss-of-function and gain-of-function experiments. Using RAD-Sequencing from a family panel, we identified Linkage Group (LG) 24 as the sex chromosome and positioned the sex locus in its sub-telomeric region. Furthermore, we demonstrated that this MSD originated from an ancient duplication of the autosomal amh gene, which was subsequently translocated to LG24. Using sex-specific pooled genome sequencing and a new male genome sequence assembled using Nanopore long reads, we also characterized the differentiation of the X and Y chromosomes, revealing a small male-specific insertion containing the MSD gene and a limited region with reduced recombination. Our study depicts reveals an unexpectedly low level of differentiation between a pair of sex chromosomes harboring an old MSD gene in a wild teleost fish population, and highlights both the pivotal role of genes from the amh pathway in sex determination, as well as the importance of gene duplication as a mechanism driving the turnover of sex chromosomes in this clade.