title: Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene.
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.
authors.affiliation: Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge 02142, USA.
authors.forename: R
authors.initials: R
authors.lastname: Reijo
authors.forename: T Y
authors.initials: TY
authors.lastname: Lee
authors.forename: P
authors.initials: P
authors.lastname: Salo
authors.forename: R
authors.initials: R
authors.lastname: Alagappan
authors.forename: L G
authors.initials: LG
authors.lastname: Brown
authors.forename: M
authors.initials: M
authors.lastname: Rosenberg
authors.forename: S
authors.initials: S
authors.lastname: Rozen
authors.forename: T
authors.initials: T
authors.lastname: Jaffe
authors.forename: D
authors.initials: D
authors.lastname: Straus
authors.forename: O
authors.initials: O
authors.lastname: Hovatta
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002460:Cell Line; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D003360:Cosmids; D018076:DNA, Complementary; D000075364:Deleted in Azoospermia 1 Protein; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009845:Oligospermia / Q000235:genetics / Q000473:pathology; D016601:RNA-Binding Proteins / Q000235:genetics*; D013091:Spermatogenesis / Q000235:genetics*; D013737:Testis / Q000378:metabolism; D014158:Transcription, Genetic; D014998:Y Chromosome
chemical_list: C095668:DAZ1 protein, human; D018076:DNA, Complementary; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins