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Deficiency in the Multicopy Sycp3-Like X-Linked Genes Slx and Slxl1 Causes Major Defects in Spermatid Differentiation

The human and mouse sex chromosomes are enriched in multicopy genes required for postmeiotic differentiation of round spermatids into sperm. The gene Sly is present in multiple copies on the mouse Y chromosome and encodes a protein that is required for the epigenetic regulation of postmeiotic sex ch...

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Autores principales: Cocquet, Julie, Ellis, Peter J. I., Yamauchi, Yasuhiro, Riel, Jonathan M., Karacs, Thomas P. S., Rattigan, Áine, Ojarikre, Obah A., Affara, Nabeel A., Ward, Monika A., Burgoyne, Paul S.
Formato: Texto
Lenguaje:English
Publicado: The American Society for Cell Biology 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2954115/
https://www.ncbi.nlm.nih.gov/pubmed/20739462
http://dx.doi.org/10.1091/mbc.E10-07-0601
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author Cocquet, Julie
Ellis, Peter J. I.
Yamauchi, Yasuhiro
Riel, Jonathan M.
Karacs, Thomas P. S.
Rattigan, Áine
Ojarikre, Obah A.
Affara, Nabeel A.
Ward, Monika A.
Burgoyne, Paul S.
author_facet Cocquet, Julie
Ellis, Peter J. I.
Yamauchi, Yasuhiro
Riel, Jonathan M.
Karacs, Thomas P. S.
Rattigan, Áine
Ojarikre, Obah A.
Affara, Nabeel A.
Ward, Monika A.
Burgoyne, Paul S.
author_sort Cocquet, Julie
collection PubMed
description The human and mouse sex chromosomes are enriched in multicopy genes required for postmeiotic differentiation of round spermatids into sperm. The gene Sly is present in multiple copies on the mouse Y chromosome and encodes a protein that is required for the epigenetic regulation of postmeiotic sex chromosome expression. The X chromosome carries two multicopy genes related to Sly: Slx and Slxl1. Here we investigate the role of Slx/Slxl1 using transgenically-delivered small interfering RNAs to disrupt their function. We show that Slx and Slxl1 are important for normal sperm differentiation and male fertility. Slx/Slxl1 deficiency leads to delay in spermatid elongation and sperm release. A high proportion of delayed spermatids are eliminated via apoptosis, with a consequent reduced sperm count. The remaining spermatozoa are abnormal with impaired motility and fertilizing abilities. Microarray analyses reveal that Slx/Slxl1 deficiency affects the metabolic processes occurring in the spermatid cytoplasm but does not lead to a global perturbation of sex chromosome expression; this is in contrast with the effect of Sly deficiency which leads to an up-regulation of X and Y chromosome genes. This difference may be due to the fact that SLX/SLXL1 are cytoplasmic while SLY is found in the nucleus and cytoplasm of spermatids.
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spelling pubmed-29541152010-12-30 Deficiency in the Multicopy Sycp3-Like X-Linked Genes Slx and Slxl1 Causes Major Defects in Spermatid Differentiation Cocquet, Julie Ellis, Peter J. I. Yamauchi, Yasuhiro Riel, Jonathan M. Karacs, Thomas P. S. Rattigan, Áine Ojarikre, Obah A. Affara, Nabeel A. Ward, Monika A. Burgoyne, Paul S. Mol Biol Cell Articles The human and mouse sex chromosomes are enriched in multicopy genes required for postmeiotic differentiation of round spermatids into sperm. The gene Sly is present in multiple copies on the mouse Y chromosome and encodes a protein that is required for the epigenetic regulation of postmeiotic sex chromosome expression. The X chromosome carries two multicopy genes related to Sly: Slx and Slxl1. Here we investigate the role of Slx/Slxl1 using transgenically-delivered small interfering RNAs to disrupt their function. We show that Slx and Slxl1 are important for normal sperm differentiation and male fertility. Slx/Slxl1 deficiency leads to delay in spermatid elongation and sperm release. A high proportion of delayed spermatids are eliminated via apoptosis, with a consequent reduced sperm count. The remaining spermatozoa are abnormal with impaired motility and fertilizing abilities. Microarray analyses reveal that Slx/Slxl1 deficiency affects the metabolic processes occurring in the spermatid cytoplasm but does not lead to a global perturbation of sex chromosome expression; this is in contrast with the effect of Sly deficiency which leads to an up-regulation of X and Y chromosome genes. This difference may be due to the fact that SLX/SLXL1 are cytoplasmic while SLY is found in the nucleus and cytoplasm of spermatids. The American Society for Cell Biology 2010-10-15 /pmc/articles/PMC2954115/ /pubmed/20739462 http://dx.doi.org/10.1091/mbc.E10-07-0601 Text en © 2010 by The American Society for Cell Biology This article is distributed by The American Society for Cell Biology under license from the author(s). Two months after publication it is available to the public under an Attribution–Noncommercial–Share Alike 3.0 Unported Creative Commons License (http://creativecommons.org/licenses/by-nc-sa/3.0).
spellingShingle Articles
Cocquet, Julie
Ellis, Peter J. I.
Yamauchi, Yasuhiro
Riel, Jonathan M.
Karacs, Thomas P. S.
Rattigan, Áine
Ojarikre, Obah A.
Affara, Nabeel A.
Ward, Monika A.
Burgoyne, Paul S.
Deficiency in the Multicopy Sycp3-Like X-Linked Genes Slx and Slxl1 Causes Major Defects in Spermatid Differentiation
title Deficiency in the Multicopy Sycp3-Like X-Linked Genes Slx and Slxl1 Causes Major Defects in Spermatid Differentiation
title_full Deficiency in the Multicopy Sycp3-Like X-Linked Genes Slx and Slxl1 Causes Major Defects in Spermatid Differentiation
title_fullStr Deficiency in the Multicopy Sycp3-Like X-Linked Genes Slx and Slxl1 Causes Major Defects in Spermatid Differentiation
title_full_unstemmed Deficiency in the Multicopy Sycp3-Like X-Linked Genes Slx and Slxl1 Causes Major Defects in Spermatid Differentiation
title_short Deficiency in the Multicopy Sycp3-Like X-Linked Genes Slx and Slxl1 Causes Major Defects in Spermatid Differentiation
title_sort deficiency in the multicopy sycp3-like x-linked genes slx and slxl1 causes major defects in spermatid differentiation
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2954115/
https://www.ncbi.nlm.nih.gov/pubmed/20739462
http://dx.doi.org/10.1091/mbc.E10-07-0601
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