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Human Molecular Genetics Advance Access originally published online on May 26, 2004
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Human Molecular Genetics, 2004, Vol. 13, No. 14 1421-1431
DOI: 10.1093/hmg/ddh161
Human Molecular Genetics, Vol. 13, No. 14 © Oxford University Press 2004; all rights reserved

Six5 is required for spermatogenic cell survival and spermiogenesis

Partha S. Sarkar, Sharan Paul, Jennifer Han and Sita Reddy*

Institute for Genetic Medicine, Room 240, University of Southern California, Keck School of Medicine, 2250 Alcazar Street, Los Angeles, CA 90033, USA

Received February 8, 2004; Accepted May 14, 2004

Myotonic dystrophy 1 (DM1) is a multi-system disorder characterized by endocrine defects that include testicular and tubular atrophy, oligospermia, Leydig cell hyperproliferation and increased follicle stimulating hormone (FSH) levels. DM1 results from a CTG expansion that causes transcriptional silencing of the flanking SIX5 allele. Loss of Six5 results in male sterility and a progressive decrease in testicular mass with age. We demonstrate a strict requirement of Six5 for both spermatogenic cell survival and spermiogenesis. Leydig cell hyperproliferation and increased intra-testicular testosterone levels are observed in the Six5–/–mice. Although increased FSH levels are observed in the Six5+/–and Six5–/–mice, serum testosterone levels and intra-testicular inhibin alpha and inhibin beta B levels are not altered in the Six5 mutant animals when compared with controls. Significantly, steady-state c-Kit levels are reduced in the Six5–/– testis. Thus, decreased c-Kit levels could contribute to the elevated spermatogenic cell apoptosis and Leydig cell hyperproliferation in the Six5–/– mice. The results support the hypothesis that the reduced SIX5 levels contribute to the male reproductive defects in DM1.

* To whom correspondence should be addressed. Tel: +1 3234422457; Fax: +1 3234422764; Email: sitaredd{at}usc.edu


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