Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA–binding protein gene View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1995-08

AUTHORS

Renee Reijo, Tien-Yi Lee, Pia Salo, Raaji Alagappan, Laura G. Brown, Michael Rosenberg, Steve Rozen, Tom Jaffe, Donald Straus, Outi Hovatta, Albert de la Chapelle, Sherman Silber, David C. Page

ABSTRACT

We have detected deletions of portions of the Y chromosome long arm in 12 of 89 men with azoospermia (no sperm in semen). No Y deletions were detected in their male relatives or in 90 other fertile males. The 12 deletions overlap, defining a region likely to contain one or more genes required for spermatogenesis (the Azoospermia Factor, AZF). Deletion of the AZF region is associated with highly variable testicular defects, ranging from complete absence of germ cells to spermatogenic arrest with occasional production of condensed spermatids. We find no evidence of YRRM genes, recently proposed as AZF candidates, in the AZF region. The region contains a single-copy gene, DAZ (Deleted in AZoospermia), which is transcribed in the adult testis and appears to encode an RNA binding protein. The possibility that DAZ is AZF should now be explored. More... »

PAGES

383-393

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0895-383

DOI

http://dx.doi.org/10.1038/ng0895-383

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1022756729

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7670487


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