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Human Molecular Genetics Advance Access originally published online on August 4, 2004
Human Molecular Genetics 2004 13(19):2333-2341; doi:10.1093/hmg/ddh240
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Human Molecular Genetics, Vol. 13, No. 19 © Oxford University Press 2004; all rights reserved

The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control

H.J. Ditton1,{dagger}, J. Zimmer1,{dagger}, C. Kamp1, E. Rajpert-De Meyts2 and P.H. Vogt1,*

1Section of Molecular Genetics and Infertility, Department of Gynecological Endocrinology and Reproductive Medicine, University of Heidelberg, Heidelberg, Germany and 2Department of Growth and Reproduction, Copenhagen University Hospital (Rigshospitalet) Section GR-5064, Copenhagen, Denmark

Received June 24, 2004; Accepted July 21, 2004

We explored the function of the human DEAD-box Y RNA helicase DBY (DDX3Y) gene located in the (AZFa) region on the human Y chomosome (Yq11.21). Deletion of this Y interval is known to be a major cause for the occurrence of a severe testicular pathology, the Sertoli-cell-only (SCO) syndrome. DBY has a structural homologue on the short arm of the X chromosome DBX (DDX3X) (Xp11.4). We found widespread transcription of both genes in each tissue analyzed, although predominantly in testis tissue. However, translation of DBY was detected only in the male germ line, whereas DBX protein was expressed in all tissues analyzed. In testis tissue sections, DBY protein was found predominantly in spermatogonia, whereas DBX protein was expressed after meiosis in spermatids. We conclude that although both RNA helicases are structurally very similar, they have diverged functionally to fulfill different roles in the RNA metabolism of human spermatogenesis, and that deletion of the DBY gene is the most likely cause of the severe testicular pathology observed in men with AZFa deletions.

* To whom correspondence should be addressed at: Section of Molecular Genetics and Infertility, Department of Gynecological Endocrinology and Reproductive Medicine, University of Heidelberg, Voßstrasse 9, D-69115 Heidelberg, Germany. Tel: +49 6221567918; Fax: +49 62215633710; Email: peter_vogt{at}med.uni-heidelberg.de


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