title: Analysis of DAZ gene expression in a partial AZFc deletion of the human Y chromosome.
abstract: The azoospermia factor c (AZFc) region of the Y chromosome consists of repetitive amplicons and is therefore highly susceptible to structural rearrangements, such as deletions and duplications. The b2/b3 deletion is a partial AZFc deletion that is conventionally determined by the selective absence of sY1191 in sequence-tagged site polymerase chain reaction (PCR) and is generally believed to retain two of the four deleted in azoospermia (DAZ) genes on the Y chromosome. In the present study we determined the copy number and expression of DAZ genes in sY1191-negative individuals. Using a DAZ dosage PCR assay and Southern blot analysis we evaluated the expression of four DAZ genes in five of six sY1191-negative individuals. Furthermore, cloning and immunoblot analyses revealed that three or more DAZ genes are expressed in sY1191-negative testes with germ cells. The results indicate that the selective absence of sY1191 not only means b2/b3 deletion with two DAZ genes, but also includes another AZFc configuration with four DAZ genes. These results exemplify the prevalence of variations in the AZFc region of the human Y chromosome.
authors: Department of Biological Sciences, Seoul National University, 599 Gwanak-ro, Gwanak-gu, Seoul 151-747, Korea.
authors: Byunghyuk
authors: B
authors: Kim
authors: Department of Biological Sciences, Seoul National University, 599 Gwanak-ro, Gwanak-gu, Seoul 151-747, Korea.
authors: Wonkyung
authors: W
authors: Lee
authors: Department of Biological Sciences, Seoul National University, 599 Gwanak-ro, Gwanak-gu, Seoul 151-747, Korea.
authors: Kunsoo
authors: K
authors: Rhee
authors: Department of Urology, College of Medicine, Seoul National University, 101 Daehak-ro, Jongno-gu, Seoul 110-799, Korea.
authors: Soo Woong
authors: SW
authors: Kim
authors: Department of Urology, College of Medicine, Seoul National University, 101 Daehak-ro, Jongno-gu, Seoul 110-799, Korea.
authors: Jae-Seung
authors: JS
authors: Paick
mesh_terms: D053713:Azoospermia / Q000235:genetics* / Q000378:metabolism / Q000503:physiopathology; D015139:Blotting, Southern; D015153:Blotting, Western; D016022:Case-Control Studies; D041322:Chromosomes, Human, Y; D003001:Cloning, Molecular; D000075364:Deleted in Azoospermia 1 Protein; D005298:Fertility / Q000235:genetics*; D017353:Gene Deletion; D018628:Gene Dosage; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D057809:HEK293 Cells; D006801:Humans; D008297:Male; D010641:Phenotype; D016601:RNA-Binding Proteins / Q000235:genetics* / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013737:Testis / Q000378:metabolism / Q000503:physiopathology; D014162:Transfection
chemical_list: C095668:DAZ1 protein, human; D000075364:Deleted in Azoospermia 1 Protein; D016601:RNA-Binding Proteins