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PMID: 20374305 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

Complex transcriptional control of the AZFa gene DDX3Y in human testis.

International journal of andrology ·Vol. 34 ·No. 1 ·2011-02-00 ·Pages 84-96

Rauschendorf MA, Zimmer J, Hanstein R, Dickemann C, Vogt PH

Abstract

The human DEAD-box Y (DBY) RNA helicase (aka DDX3Y) gene is thought to be the major azoospermia factor a (AZFa) gene in proximal Yq11. Men with its deletion display no somatic pathologies, but suffer from complete absence of germ cells. Accordingly, DDX3Y protein is expressed only in the germline in spermatogonia, although the transcripts were found in many tissues. Here, we show the complex transcriptional control of a testis-specific DDX3Y transcript class with initiation at different sites upstream of the gene's open reading frame (5'Untranslated Region; UTR) and with polyadenylation in their proximal 3'UTR. The most distal transcriptional start site (TSS; ∼1 kb upstream) was mapped in MSY2, a Y-specific minisatellite. As this testis-specific 5'UTR was subsequently processed by three alternative splicing events, it has been tentatively designated 'exon-T'(estis). The MSY2 sequence unit was also found upstream of the mouse Ddx3y gene. However, only after its tandem amplification on the Y chromosome of Platyrrhini (new world monkeys) and Catarrhini (old world monkeys) did MSY2 become part of a novel distal promoter for DDX3Y expression in testis tissue and provides a second transcriptional start site (T-TSS-II) in Catarrhini. We therefore suggest that the development of a novel distal DDX3Y promoter in primates, which is activated only in testis tissue, is probably part of the gene's germline translation control.

MeSH Terms
3' Untranslated Regions 5' Untranslated Regions Alternative Splicing Animals Azoospermia/genetics,metabolism,pathology Base Sequence Catarrhini/genetics Chromosome Deletion Chromosomes, Human, Y/genetics DEAD-box RNA Helicases/genetics Gene Expression Regulation Genetic Loci Germ Cells/pathology Humans Male Mice Minor Histocompatibility Antigens Platyrrhini/genetics Polyadenylation Promoter Regions, Genetic RNA-Binding Proteins/genetics Seminal Plasma Proteins/genetics Tandem Repeat Sequences Testis/metabolism,pathology Transcription Initiation Site
Chemicals
3' Untranslated Regions 5' Untranslated Regions Minor Histocompatibility Antigens RNA-Binding Proteins Seminal Plasma Proteins YBX2 protein, human DDX3Y protein, human Ddx3y protein, mouse DEAD-box RNA Helicases
Authors & Affiliations
5 authors, click to expand affiliations / ORCID
Rauschendorf M-A
Unit of Molecular Genetics & Infertility, Department of Gynecological Endocrinology & Reproductive Medicine, University of Heidelberg, Heidelberg, Germany.
Zimmer J
Hanstein R
Dickemann C
Vogt P H
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Article Info
Journal
International journal of andrology
Abbr.
Int J Androl
ISSN
1365-2605
DOI
10.1111/j.1365-2605.2010.01053.x
Published
2011-02-00
Pages
84-96
Language
English
Region
England
NLM ID
8000141
PMCID
PMC3039753
Subset
IM
External Links
PubMed source DOI: 10.1111/j.1365-2605.2010.01053.x PMC Full Text
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