• PMID: 7670487
• Gene Name: DAZ1
• Condition: Infertility
• Association: The results indicate a possibility that DAZ in AZF should be explored as a candidate for spermatogenic defects in humans caused by Y chromosome deletions
• Mutation: Y chrmosome deletions
• Population size: 179
• Population details: 90 fertile , 89 azoospermia,
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Azoospermia, Spermatogenic arrest

Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene

Reijo R, Lee TY, Salo P, Alagappan R, Brown LG, Rosenberg M, Rozen S, Jaffe T, Straus D, Hovatta O, et al.

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. FAU - Reijo, R AU - Reijo R AD - Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge 02142, USA. FAU - Lee, T Y AU - Lee TY FAU - Salo, P AU - Salo P FAU - Alagappan, R AU - Alagappan R FAU - Brown, L G AU - Brown LG FAU - Rosenberg, M AU - Rosenberg M FAU - Rozen, S AU - Rozen S FAU - Jaffe, T AU - Jaffe T FAU - Straus, D AU - Straus D