title: The Y chromosome region essential for spermatogenesis.
abstract: We analyzed DNA from 153 Japanese men with azoospermia or severe oligozoospermia whose Y chromosomes were cytogenetically normal. A total of 23 loci on the Y chromosome were examined: 15 loci within interval 6 including YRRM1 and DAZ, and 8 loci outside interval 6. Microdeletions were observed in 20 individuals. All deletions involved at least one locus within interval 6. The YRRM1 gene deletion was found in 4 patients, of whom 2 also lacked the SMCY gene. The remaining 16 individuals shared the absence of 10 loci between DYS7C and DYS239 including the DAZ gene. Among them, 13 were azoospermic while 3 showed a little sperm production, indicating that the common deletion resulted in phenotypic diversity. Since there is no region commonly deleted in all patients, azoospermia caused by deletion of the Y chromosome long arm may be genetically heterogeneous.
authors.affiliation: Department of Human Genetics, School of International Health, University of Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Nakahori
authors.forename: Y
authors.initials: Y
authors.lastname: Kuroki
authors.forename: R
authors.initials: R
authors.lastname: Komaki
authors.forename: N
authors.initials: N
authors.lastname: Kondoh
authors.forename: M
authors.initials: M
authors.lastname: Namiki
authors.forename: T
authors.initials: T
authors.lastname: Iwamoto
authors.forename: T
authors.initials: T
authors.lastname: Toda
authors.forename: K
authors.initials: K
authors.lastname: Kobayashi
mesh_terms: D000328:Adult; D000075364:Deleted in Azoospermia 1 Protein; D017353:Gene Deletion; D056466:Histone Demethylases; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D008297:Male; D015778:Minor Histocompatibility Antigens; D009845:Oligospermia / Q000235:genetics / Q000503:physiopathology; D011506:Proteins / Q000235:genetics; D016601:RNA-Binding Proteins / Q000235:genetics; D013091:Spermatogenesis / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*
chemical_list: C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D015778:Minor Histocompatibility Antigens; D011506:Proteins; D016601:RNA-Binding Proteins; D056466:Histone Demethylases; C095561:KDM5D protein, human; D011495:Histone-Lysine N-Methyltransferase