Alu sequence variants of the BPY2 gene in proven fertile and infertile men with Sertoli cell-only phenotype

International Journal of Urology

Volumn 14, Issue 5, 2007, Pages 431-435

  Choi, Jin ^a   Koh, Eitetsu ^a,c   Suzuki, Hiromi ^a   Maeda, Yuji ^a   Yoshida, Atsumi ^b   Namiki, Mikio ^a  

^a KANAZAWA UNIVERSITY   (Japan)

^b Reproduction Center Kiba Park Clinic   (Japan)

^c KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

Author keywords

AZF; BPY2; Male infertility; SNV; VCY2

Indexed keywords

BASIC PROTEIN;

ARTICLE; CONTROLLED STUDY; DNA FLANKING REGION; EXON; FISHER EXACT TEST; GENE FREQUENCY; GENETIC SCREENING; GENETIC VARIABILITY; GENOTYPE; HUMAN; MALE; MALE INFERTILITY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROMOTER REGION; SEQUENCE ANALYSIS; SERTOLI CELL; STATISTICAL SIGNIFICANCE; WILD TYPE; Y CHROMOSOME;

HUMANS; INFERTILITY, MALE; MALE; PHENOTYPE; PROTEINS; SERTOLI CELLS;

EID: 34249071336     PISSN: 09198172     EISSN: 14422042     Source Type: Journal    
DOI: 10.1111/j.1442-2042.2007.01741.x     Document Type: Article

References (21)

1. Li WH, Gu Z, Wang H, Nekrutenko A. Evolutionary analyses of the human genome. Nature 2001 409 : 847 9.
2. Ng SK, Xue H. Alu-associated enhancement of single nucleotide polymorphisms in the human genome. Gene 2006 1 : 110 16.
3. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Genet. 1976 34 : 119 224.
4. Vogt PH, Edelmann A, Kirsch S et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 1996 5 : 933 43.
5. Fukushima M, Koh E, Choi J, Maeda Y, Namiki M, Yoshida A. Reevaluation of azoospermic factor c microdeletions using sequence-tagged site makers with confirmed physical positions from the GenBank database. Fertil. Steril. 2006 85 : 965 71.
6. Tse JY, Wong EY, Cheung AN, O WS, Tam PC, Yeung WS. Specific expression of VCY2 in human male germ cells and its involvement in the pathogenesis of male infertility. Biol. Reprod. 2003 69 : 746 51.
7. Stuppia L, Gatta V, Fogh I et al. Genomic organization, physical mapping, and involvement in Yq microdeletions of the VCY2 (BPY 2) gene. Genomics 2001 72 : 153 7.
8. Kuroda-Kawaguchi T, Skaletsky H, Brown LG et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat. Genet. 2001 29 : 279 86.
9. Fernandes S, Paracchini S, Meyer LH, Floridia G, Tyler-Smith C, Vogt PH. A large AZFc deletion removes DAZ3/DAZ4 and nearby genes from men in Y haplogroup N. Am. J. Hum. Genet. 2004 74 : 180 7.
10. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 2003 423 : 825 37.
11. World Health Organization. WHO Laboratory Manual for the Examination of Human Semen and Semen-Cervical Mucus Interaction, 4th edn. Cambridge University Press, Cambridge, 1999 pp. 4 33.
12. Jurka J, Kohany O, Pavlicek A, Kapitonov VV, Jurka MV. Duplication, coclustering, and selection of human Alu retrotransposons. Proc. Natl. Acad. Sci. USA 2004 3 : 1268 72.
13. Deininger PL, Batzer MA. Alu repeats and human disease. Mol. Genet. Metab. 1999 67 : 183 93.
14. Rozen S, Skaletsky H, Marszalek JD et al. Abundant gene conversion between arms of palindromes in human and ape Y chromosomes. Nature 2003 19 : 873 6.
15. Adams SM, King TE, Bosch E, Jobling MA. The case of the unreliable SNP. Recurrent back-mutation of Y-chromosomal marker P25 through gene conversion. Forensic Sci. Int. 2006 159 : 14 20.
16. Bailey JA, Yavor AM, Massa HF, Trask BJ, Eichler EE. Segmental duplications: organization and impact within the current human genome project assembly. Genome Res. 2001 11 : 1005 17.
17. Makalowski W. Genomics. Not junk after all. Science 2003 300 : 1288 91.
18. Clarimon J, Andres AM, Bertranpetit J, Comas D. Comparative analysis of Alu insertion sequences in the APP 5′ flanking region in humans and other primates. J. Mol. Evol. 2004 58 : 722 31.
19. Cordaux R, Hedges DJ, Herke SW, Batzer MA. Estimating the retrotransposition rate of human Alu elements. Gene 2006 373 : 134 7.
20. Matys V, Fricke E, Geffers R et al. TRANSFAC: transcriptional regulation, from patterns to profiles. Nucleic Acids Res. 2003 31 : 374 8.
21. Oates RD, Silber S, Brown LG, Page DC. Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum. Reprod. 2002 17 : 2813 24.