• PMID: 8864744
• Gene Name: DAZ1
• Condition: Azoospermia, severe oligozoospermia
• Association: 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.
• Population size: 153
• Population details: 153 men with azoospermia or severe oligozoospermia whose Y chromosomes were cytogenetically normal
• Sex: Male
• Infertility type: Male infertility
• Associated genes: YRRM1, DAZ, SMCY
• Other associated phenotypes: Azoospermia, severe oligozoospermia

The Y chromosome region essential for spermatogenesis

Nakahori Y, Kuroki Y, Komaki R, Kondoh N, Namiki M, Iwamoto T, Toda T, Kobayashi K.

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. FAU - Nakahori, Y AU - Nakahori Y AD - Department of Human Genetics, School of International Health, University of Tokyo, Japan. FAU - Kuroki, Y AU - Kuroki Y FAU - Komaki, R AU - Komaki R FAU - Kondoh, N AU - Kondoh N FAU - Namiki, M AU - Namiki M FAU - Iwamoto, T AU - Iwamoto T FAU - Toda, T AU - Toda T