Polymorphisms associated with the DAZ genes on the human Y chromosome.
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.
Lin
Yi-Wen
YW
Graduate Institute of Life Sciences, National Defense Medical Center, Taipei, Taiwan.
Thi
Duyen Anh Doan
DA
Kuo
Pao-Lin
PL
Hsu
Chao-Chin
CC
Huang
Bor-Ding
BD
Yu
Yueh-Hsiang
YH
Vogt
Peter H
PH
Krause
Walter
W
Ferlin
Alberto
A
Foresta
Carlo
C
Bienvenu
Thierry
T
Schempp
Werner
W
Yen
Pauline H
PH
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
C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins