Journal Article

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

H.J. Ditton, J. Zimmer, C. Kamp, E. Rajpert-De Meyts and P.H. Vogt

in Human Molecular Genetics

Volume 13, issue 19, pages 2333-2341
Published in print October 2004 | ISSN: 0964-6906
Published online August 2004 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddh240
The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control

Show Summary Details

Preview

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.

Journal Article.  6631 words.  Illustrated.

Subjects: Genetics and Genomics

Full text: subscription required

How to subscribe Recommend to my Librarian

Users without a subscription are not able to see the full content. Please, subscribe or login to access all content.