• PMID: 11901266
• Gene Name: DAZ1
• Condition: Infertility
• Association: The results show a nonrandom distribution of MboI–/MboI+ sequence ratios in all populations examined, as well as significant differences in ratios between populations when compared pairwise. The multiple ratios imply that there have been more than one rec
• Mutation: DAZ gene single nucleotide polymorphisms
• Population size: 656
• Population details: 109 Benin (West Africa), 76 Rwanda (East Africa), 71 Kungurtug (Asian population), 25 Formosa aborigines (Central Asia & Taiwan), 375 Caucasian (80 Basques (Spain), 151 Nile Delta (Egyptian), 144 Oman (Egyptian))
• Sex: Male
• Infertility type: Male infertility

Single-nucleotide variant in multiple copies of a deleted in azoospermia (DAZ) sequence - a human Y chromosome quantitative polymorphism

Szmulewicz MN, Ruiz LM, Reategui EP, Hussini S, Herrera RJ.

The evolution of the deleted in azoospermia (DAZ) gene family supports prevalent theories on the origin and development of sex chromosomes and sexual dimorphism. The ancestral DAZL gene in human chromosome 3 is known to be involved in germline development of both males and females. The available phylogenetic data suggest that some time after the divergence of the New World and Old World monkey lineages, the DAZL gene, which is found in all mammals, was copied to the Y chromosome of an ancestor to the Old World monkeys, but not New World monkeys. In modern man, the Y-linked DAZ gene complex is located on the distal part of the q arm. It is thought that after being copied to the Y chromosome, and after the divergence of the human and great ape lineages, the DAZ gene in the former underwent internal rearrangements. This included tandem duplications as well as a T > C transition altering an MboI restriction enzyme site in a duplicated sequence. In this study, we report on the ratios of MboI-/MboI+ variant sequences in individuals from seven worldwide human populations (Basque, Benin, Egypt, Formosa, Kungurtug, Oman and Rwanda) in the DAZ complex. The ratio of PCR MboI- and MboI+ amplicons can be used to characterize individuals and populations. Our results show a nonrandom distribution of MboI-/MboI+ sequence ratios in all populations examined, as well as significant differences in ratios between populations when compared pairwise. The multiple ratios imply that there have been more than one recent reorganization events at this locus. Considering the dynamic nature of this locus and its involvement in male fertility, we investigated the extent and distribution of this polymorphism. CI - Copyright 2002 S. Karger AG, Basel FAU - Szmulewicz, Martin N AU - Szmulewicz MN AD - Department of Biological Sciences, Florida International University, University Park Campus, Miami, Fla. 33199, USA. FAU - Ruiz, Luis M AU - Ruiz LM FAU - Reategui, Erika P AU - Reategui EP FAU - Hussini, Saeed AU - Hussini S