High Resolution X Chromosome-Specific Array-CGH Detects New CNVs in Infertile Males

PLoS ONE

Volumn 7, Issue 10, 2012, Pages

  Krausz, Csilla ^a,b   Giachini, Claudia ^a   Lo Giacco, Deborah ^b,c   Daguin, Fabrice ^a   Chianese, Chiara ^a   Ars, Elisabet ^c   Ruiz Castane, Eduard ^b   Forti, Gianni ^a   Rossi, Elena ^d  

^a UNIVERSITY OF FLORENCE   (Italy)

^b FUNDACIÓ PUIGVERT   (Spain)

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^d UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CANCER TESTIS ANTIGEN;

ADULT; ARTICLE; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; COPY NUMBER VARIATION; CTA GENE; DNA MICROARRAY; GENE; GENE ACTIVITY; GENE FUNCTION; GENE TARGETING; HEREDITY; HIGH RESOLUTION X CHROMOSOME SPECIFIC ARRAY COMPARATIVE GENOMIC HYBRIDIZATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; SPERMATOGENESIS; SPERMATOZOON COUNT; VASECTOMY; X CHROMOSOME;

AZOOSPERMIA; CASE-CONTROL STUDIES; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; DNA; DNA COPY NUMBER VARIATIONS; HUMANS; INFERTILITY, MALE; MALE; OLIGOSPERMIA; PHENOTYPE; POLYMERASE CHAIN REACTION; SEMEN; SPERM COUNT; SPERMATOGENESIS; TESTIS;

EID: 84867290682     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0044887     Document Type: Article

References (26)

1. Krausz C, (2011) Male infertility: pathogenesis and clinical diagnosis. Best Pract Res Clin Endocrinol Metab 25: 271-285.
2. Nuti F, Krausz C, (2008) Gene polymorphisms/mutations relevant to abnormal spermatogenesis. Reprod Biomed Online 16: 504-513.
3. Tuttelmann F, Rajpert-De Meyts E, Nieschlag E, Simoni M, (2007) Gene polymorphisms and male infertility-a meta-analysis and literature review. Reprod Biomed Online 15: 643-658.
4. Matzuk MM, Lamb DJ, (2008) The biology of infertility: research advances and clinical challenges. Nat Med 14: 1197-1213.
5. Aston KI, Carrell DT, (2009) Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. J Androl 30: 711-725.
6. Aston KI, Krausz C, Laface I, Ruiz-Castane E, Carrell DT, (2010) Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. Hum Reprod 25: 1383-1397.
7. Tuttelmann F, Simoni M, Kliesch S, Ledig S, Dworniczak B, et al. (2011) Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. PLoS One 6: e19426.
8. Stouffs K, Vandermaelen D, Massart A, Menten B, Vergult S, et al. Array comparative genomic hybridization in male infertility. Hum Reprod 27: 921-929.
9. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, et al. (2003) The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 423: 825-837.
10. Wang PJ, McCarrey JR, Yang F, Page DC, (2001) An abundance of X-linked genes expressed in spermatogonia. Nat Genet 27: 422-426.
11. Krausz C, Chianese C, Giachini C, Guarducci E, Laface I, et al. (2011) The Y chromosome-linked copy number variations and male fertility. J Endocrinol Invest 34: 376-382.
12. Tyler-Smith C, Krausz C, (2009) The will-o′-the-wisp of genetics-hunting for the azoospermia factor gene. N Engl J Med 360: 925-927.
13. Mueller JL, Mahadevaiah SK, Park PJ, Warburton PE, Page DC, et al. (2008) The mouse X chromosome is enriched for multicopy testis genes showing postmeiotic expression. Nat Genet 40: 794-799.
14. Stouffs K, Tournaye H, Liebaers I, Lissens W, (2009) Male infertility and the involvement of the X chromosome. Hum Reprod Update 15: 623-637.
15. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, et al. (2006) Global variation in copy number in the human genome. Nature 444: 444-454.
16. Fratta E, Coral S, Covre A, Parisi G, Colizzi F, et al. (2011) The biology of cancer testis antigens: putative function, regulation and therapeutic potential. Mol Oncol 5: 164-182.
17. Del Castillo EB, Trabucco A, De La Balze FA, (1947) syndrome produced by absence of the germinal epithelium without impairment of the Sertoli or Leydig cells. J Clin Endocrinol Metab 7: 493-502.
18. Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, et al. (2009) Finding the missing heritability of complex diseases. Nature 461: 747-753.
19. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, et al. (2010) Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466: 368-372.
20. Almeida LG, Sakabe NJ, deOliveira AR, Silva MC, Mundstein AS, et al. (2009) CTdatabase: a knowledge-base of high-throughput and curated data on cancer-testis antigens. Nucleic Acids Res 37: D816-819.
21. Stevenson BJ, Iseli C, Panji S, Zahn-Zabal M, Hide W, et al. (2007) Rapid evolution of cancer/testis genes on the X chromosome. BMC Genomics 8: 129.
22. Salonia A, Matloob R, Gallina A, Abdollah F, Sacca A, et al. (2009) Are infertile men less healthy than fertile men? Results of a prospective case-control survey. Eur Urol 56: 1025-1031.
23. Maduro MR, Casella R, Kim E, Levy N, Niederberger C, et al. (2003) Microsatellite instability and defects in mismatch repair proteins: a new aetiology for Sertoli cell-only syndrome. Mol Hum Reprod 9: 61-68.
24. Jorgez CJ, Weedin JW, Sahin A, Tannour-Louet M, Han S, et al. (2011) Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions. J Clin Endocrinol Metab 96: E674-679.
25. Krausz C, Giachini C, Xue Y, O'Bryan MK, Gromoll J, et al. (2009) Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background. J Med Genet 46: 21-31.
26. Jensen TK, Jacobsen R, Christensen K, Nielsen NC, Bostofte E, (2009) Good semen quality and life expectancy: a cohort study of 43,277 men. Am J Epidemiol 170: 559-565.