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Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell‐only phenotype
Author(s) -
Choi Jin,
Koh Eitetsu,
Suzuki Hiromi,
Maeda Yuji,
Yoshida Atsumi,
Namiki Mikio
Publication year - 2007
Publication title -
international journal of urology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.172
H-Index - 67
eISSN - 1442-2042
pISSN - 0919-8172
DOI - 10.1111/j.1442-2042.2007.01741.x
Subject(s) - genetics , gene , exon , genotype , phenotype , genotype phenotype distinction , biology , sequence (biology) , alu element , polymerase chain reaction , exact test , microbiology and biotechnology , medicine , human genome , genome
Objective: The basic protein on Y chromosome, 2 gene ( BPY2 ) is implicated in the spermatogenic process. Three copies (paralogs) of the BPY2 sequence lie in the AZFc region, within huge palindromic repeats consisting of Alu sequences located in 5′ flanking regions. Our objective was to screen the single nucleotide variation of BPY2 gene paralogously. Methods: Mutation screening of the exons and 5′ flanking region of the BPY2 genes was carried out by polymerase chain reaction (PCR) and sequencing in 106 infertile patients with a Sertoli cell‐only (SCO) phenotype and in 126 fertile men. Results: No sequence variation was detected in any of the BPY2 exons. Paralogous A/A/A and mixed A/G genotypes are referred to the promoter of the gene. The G/G/G genotype (wild type) was observed at the rates of 89.6% (95/106) in the SCO subjects and 96.0% (121/126) in the proven‐fertile subjects. The G/G/G plus mixed A/G paralogous variants and the A/A/A paralogous variant were detected in 96.2% (102/106) and 3.8% (4/106) of infertile patients with SCO, respectively. The G/G/G plus mixed A/G paralogous variants were detected in 100% (126/126) of the fertile controls, with no instances of the A/A/A phenotype, and this difference was statistically significant ( P = 0.038, Fisher's exact test). Conclusion: The A/A/A genotype may be associated with the SCO phenotype. The alteration of all three copies of BPY2 within the AZFc region on the Y chromosome may affect spermatogenic process.