Sex chromosomes are generally derived from a pair of classical type-A chromosomes, and relatively few alternative models have been proposed up to now.(1)(,)(2) B chromosomes (Bs) are supernumerary and dispensable chromosomes with non-Mendelian inheritance found in many plant and animal species(3)(,)(4) that have often been considered as selfish genetic elements that behave as genome parasites.(5)(,)(6) The observation that in some species Bs can be either restricted or predominant in one sex(7-14) raised the interesting hypothesis that Bs could play a role in sex determination.(15) The characterization of putative B master sex-determining (MSD) genes, however, has not yet been provided to support this hypothesis. Here, in Astyanax mexicanus cavefish originating from Pachon cave, we show that Bs are strongly male predominant. Based on a high-quality genome assembly of a B-carrying male, we characterized the Pachon cavefish B sequence and found that it contains two duplicated loci of the putative MSD gene growth differentiation factor 6b (gdf6b). Supporting its role as an MSD gene, we found that the Pachon cavefish gdf6b gene is expressed specifically in differentiating male gonads, and that its knockout induces male-to-female sex reversal in B-carrying males. This demonstrates that gdf6b is necessary for triggering male sex determination in Pachon cavefish. Altogether these results bring multiple and independent lines of evidence supporting the conclusion that the Pachon cavefish B is a "B-sex" chromosome that contains duplicated copies of the gdf6b gene, which can promote male sex determination in this species.
%0 Journal Article
%1 imarazene2021supernumerary
%A Imarazene, B.
%A Du, K.
%A Beille, S.
%A Jouanno, E.
%A Feron, R.
%A Pan, Q.
%A Torres-Paz, J.
%A Lopez-Roques, C.
%A Castinel, A.
%A Gil, L.
%A Kuchly, C.
%A Donnadieu, C.
%A Parrinello, H.
%A Journot, L.
%A Cabau, C.
%A Zahm, M.
%A Klopp, C.
%A Pavlica, T.
%A Al-Rikabi, A.
%A Liehr, T.
%A Simanovsky, S. A.
%A Bohlen, J.
%A Sember, A.
%A Perez, J.
%A Veyrunes, F.
%A Mueller, T. D.
%A Postlethwait, J. H.
%A Schartl, M.
%A Herpin, A.
%A Retaux, S.
%A Guiguen, Y.
%D 2021
%J Curr Biol
%K Animals myOwn
%N 21
%P 4800-4809 e9
%R 10.1016/j.cub.2021.08.030
%T A supernumerary "B-sex" chromosome drives male sex determination in the Pachon cavefish, Astyanax mexicanus
%U https://www.ncbi.nlm.nih.gov/pubmed/34496222
%V 31
%X Sex chromosomes are generally derived from a pair of classical type-A chromosomes, and relatively few alternative models have been proposed up to now.(1)(,)(2) B chromosomes (Bs) are supernumerary and dispensable chromosomes with non-Mendelian inheritance found in many plant and animal species(3)(,)(4) that have often been considered as selfish genetic elements that behave as genome parasites.(5)(,)(6) The observation that in some species Bs can be either restricted or predominant in one sex(7-14) raised the interesting hypothesis that Bs could play a role in sex determination.(15) The characterization of putative B master sex-determining (MSD) genes, however, has not yet been provided to support this hypothesis. Here, in Astyanax mexicanus cavefish originating from Pachon cave, we show that Bs are strongly male predominant. Based on a high-quality genome assembly of a B-carrying male, we characterized the Pachon cavefish B sequence and found that it contains two duplicated loci of the putative MSD gene growth differentiation factor 6b (gdf6b). Supporting its role as an MSD gene, we found that the Pachon cavefish gdf6b gene is expressed specifically in differentiating male gonads, and that its knockout induces male-to-female sex reversal in B-carrying males. This demonstrates that gdf6b is necessary for triggering male sex determination in Pachon cavefish. Altogether these results bring multiple and independent lines of evidence supporting the conclusion that the Pachon cavefish B is a "B-sex" chromosome that contains duplicated copies of the gdf6b gene, which can promote male sex determination in this species.
@article{imarazene2021supernumerary,
abstract = {Sex chromosomes are generally derived from a pair of classical type-A chromosomes, and relatively few alternative models have been proposed up to now.(1)(,)(2) B chromosomes (Bs) are supernumerary and dispensable chromosomes with non-Mendelian inheritance found in many plant and animal species(3)(,)(4) that have often been considered as selfish genetic elements that behave as genome parasites.(5)(,)(6) The observation that in some species Bs can be either restricted or predominant in one sex(7-14) raised the interesting hypothesis that Bs could play a role in sex determination.(15) The characterization of putative B master sex-determining (MSD) genes, however, has not yet been provided to support this hypothesis. Here, in Astyanax mexicanus cavefish originating from Pachon cave, we show that Bs are strongly male predominant. Based on a high-quality genome assembly of a B-carrying male, we characterized the Pachon cavefish B sequence and found that it contains two duplicated loci of the putative MSD gene growth differentiation factor 6b (gdf6b). Supporting its role as an MSD gene, we found that the Pachon cavefish gdf6b gene is expressed specifically in differentiating male gonads, and that its knockout induces male-to-female sex reversal in B-carrying males. This demonstrates that gdf6b is necessary for triggering male sex determination in Pachon cavefish. Altogether these results bring multiple and independent lines of evidence supporting the conclusion that the Pachon cavefish B is a "B-sex" chromosome that contains duplicated copies of the gdf6b gene, which can promote male sex determination in this species.},
added-at = {2024-02-15T15:08:22.000+0100},
author = {Imarazene, B. and Du, K. and Beille, S. and Jouanno, E. and Feron, R. and Pan, Q. and Torres-Paz, J. and Lopez-Roques, C. and Castinel, A. and Gil, L. and Kuchly, C. and Donnadieu, C. and Parrinello, H. and Journot, L. and Cabau, C. and Zahm, M. and Klopp, C. and Pavlica, T. and Al-Rikabi, A. and Liehr, T. and Simanovsky, S. A. and Bohlen, J. and Sember, A. and Perez, J. and Veyrunes, F. and Mueller, T. D. and Postlethwait, J. H. and Schartl, M. and Herpin, A. and Retaux, S. and Guiguen, Y.},
biburl = {https://www.bibsonomy.org/bibtex/2445f4347b70feac9b26aee8eae34f09b/jvsi_all},
doi = {10.1016/j.cub.2021.08.030},
interhash = {ece9400059941f98380641951011f9ce},
intrahash = {445f4347b70feac9b26aee8eae34f09b},
issn = {1879-0445 (Electronic)
0960-9822 (Print)
0960-9822 (Linking)},
journal = {Curr Biol},
keywords = {Animals myOwn},
note = {Imarazene, Boudjema
Du, Kang
Beille, Severine
Jouanno, Elodie
Feron, Romain
Pan, Qiaowei
Torres-Paz, Jorge
Lopez-Roques, Celine
Castinel, Adrien
Gil, Lisa
Kuchly, Claire
Donnadieu, Cecile
Parrinello, Hugues
Journot, Laurent
Cabau, Cedric
Zahm, Margot
Klopp, Christophe
Pavlica, Tomas
Al-Rikabi, Ahmed
Liehr, Thomas
Simanovsky, Sergey A
Bohlen, Joerg
Sember, Alexandr
Perez, Julie
Veyrunes, Frederic
Mueller, Thomas D
Postlethwait, John H
Schartl, Manfred
Herpin, Amaury
Retaux, Sylvie
Guiguen, Yann
eng
R01 GM085318/GM/NIGMS NIH HHS/
R35 GM139635/GM/NIGMS NIH HHS/
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
England
2021/09/09
Curr Biol. 2021 Nov 8;31(21):4800-4809.e9. doi: 10.1016/j.cub.2021.08.030. Epub 2021 Sep 7.},
number = 21,
pages = {4800-4809 e9},
timestamp = {2024-02-15T15:08:22.000+0100},
title = {A supernumerary "B-sex" chromosome drives male sex determination in the Pachon cavefish, Astyanax mexicanus},
type = {Journal Article},
url = {https://www.ncbi.nlm.nih.gov/pubmed/34496222},
volume = 31,
year = 2021
}