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PMID:20739462

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Citation

Cocquet, J, Ellis, PJ, Yamauchi, Y, Riel, JM, Karacs, TP, Rattigan, A, Ojarikre, OA, Affara, NA, Ward, MA and Burgoyne, PS (2010) Deficiency in the multicopy Sycp3-like X-linked genes Slx and Slxl1 causes major defects in spermatid differentiation. Mol. Biol. Cell 21:3497-505

Abstract

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.

Links

PubMed PMC2954115 Online version:10.1091/mbc.E10-07-0601

Keywords

Animals; Apoptosis; Fertility/genetics; Gene Dosage/genetics; Gene Expression Profiling; Gene Expression Regulation; Gene Knockdown Techniques; Male; Mice; Mice, Transgenic; Nuclear Proteins/deficiency; Nuclear Proteins/genetics; Nuclear Proteins/metabolism; RNA, Messenger/genetics; RNA, Messenger/metabolism; RNA, Small Interfering/metabolism; Sex Chromosomes/genetics; Sperm Count; Sperm Motility; Spermatids/metabolism; Spermatids/pathology; Spermatids/ultrastructure; Spermatogenesis/genetics; Testis/metabolism; Testis/pathology

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:D3Z347

acts_upstream_of_or_within

GO:0048515: spermatid differentiation

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:1922390

P

  • results_in_acquisition_of_features_of:(CL:0000019)

Seeded From UniProt

complete

MOUSE:Q9D515

acts_upstream_of_or_within

GO:0007286: spermatid development

ECO:0000316: genetic interaction evidence used in manual assertion

MGI:MGI:99543

P

  • occurs_in:(CL:0000019)

Seeded From UniProt

complete


See also

References

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