title: Polymorphisms associated with the DAZ genes on the human Y chromosome.
abstract: The human Y chromosome is unique in that it does not engage in pairing and crossing over during meiosis for most of its length. Y chromosome microdeletions, a frequent finding in infertile men, thus occur through intrachromosomal recombination, either within a single chromatid or between sister chromatids. A recently identified polymorphism associated with increased risk for spermatogenic failure, the gr/gr deletion, removes two of the four Deleted in Azoospermia (DAZ) genes in the AZFc region on the Y-chromosome long arm. We found the likely reciprocal duplication product of gr/gr deletion in 5 (6%) of 82 males using a novel DNA-blot hybridization strategy and confirmed the presence of six DAZ genes in three cases by FISH analysis. Additional polymorphisms identified within the DAZ repeat regions of the DAZ genes indicate that sister chromatid exchange plays a significant role in the genesis of deletions, duplications, and polymorphisms of the Y chromosome.
authors.affiliation: Graduate Institute of Life Sciences, National Defense Medical Center, Taipei, Taiwan.
authors.forename: Yi-Wen
authors.initials: YW
authors.lastname: Lin
authors.forename: Duyen Anh Doan
authors.initials: DA
authors.lastname: Thi
authors.forename: Pao-Lin
authors.initials: PL
authors.lastname: Kuo
authors.forename: Chao-Chin
authors.initials: CC
authors.lastname: Hsu
authors.forename: Bor-Ding
authors.initials: BD
authors.lastname: Huang
authors.forename: Yueh-Hsiang
authors.initials: YH
authors.lastname: Yu
authors.forename: Peter H
authors.initials: PH
authors.lastname: Vogt
authors.forename: Walter
authors.initials: W
authors.lastname: Krause
authors.forename: Alberto
authors.initials: A
authors.lastname: Ferlin
authors.forename: Carlo
authors.initials: C
authors.lastname: Foresta
authors.forename: Thierry
authors.initials: T
authors.lastname: Bienvenu
authors.forename: Werner
authors.initials: W
authors.lastname: Schempp
authors.forename: Pauline H
authors.initials: PH
authors.lastname: Yen
mesh_terms: D000483:Alleles; D015139:Blotting, Southern; D041322:Chromosomes, Human, Y / Q000235:genetics*; D000075364:Deleted in Azoospermia 1 Protein; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008957:Models, Genetic; D009845:Oligospermia; D011110:Polymorphism, Genetic; D016601:RNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D012854:Sister Chromatid Exchange / Q000235:genetics / Q000502:physiology
chemical_list: C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins