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Paul Burgoyne group project:

The role of Sly in sex chromosome repression and sperm development

Deletion of the mouse Y long arm leads to gross sperm abnormalities and sterility. We have recently disrupted the function of the multi-copy Y long arm gene (Sly) by the transgenic delivery of Sly-specific siRNAs. The resulting Sly-deficient mice exhibited most of the spermiogenic defects associated with Y long arm deletions, including the de-repression of the X or Y chromatin of spermatids. We presume that the over-expression of spermatid expressed X and Y genes is the main cause of the abnormal sperm development in mice with Y long arm deletions. Among the spermatid expressed genes that Sly represses in normal males are the related multi-copy X genes Slx and Slxl1. By siRNA disruption of Slx and Slxl1 we have shown that these genes are also essential for normal sperm development.

Sly deficiency leads to up-regulation of spermatid-expressed X and Y genes

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Sly-deficiency was achieved by transgenically delivered siRNAs. Micro-array testis transcript analysis showed that Sly deficiency leads to the up-regulation of X and Y-encoded spermatid genes. Some autosomal genes were found to be up- or down-regulated.

Selected publications

Burgoyne PS, Mahadevaiah SK, Sutcliffe MJ, Palmer SJ. (1992)
Fertility in mice requires X-Y pairing and a Y-chromosomal "spermiogenesis" gene mapping to the long arm.
Cell 71, 391-8 PubMed abstract
Touré, A; Clemente, EJ; Ellis, PJI; Mahadevaiah, SK; Ojarikre, OA; Ball, PAF; Reynard, L; Loveland, KL; Burgoyne, PS and Affara, NA (2005)
Identification of novel Y chromosome encoded transcripts by testis transcriptome analysis of mice with deletions of the Y chromosome long arm.
Genome Biology 6, R102 PubMed abstract