Associations of Y-chromosome subdeletion gr/gr with the prevalence of Y-chromosome haplogroups in infertile patients

European Journal of Human Genetics

Volumn 19, Issue 1, 2011, Pages 23-29

  Shahid, Mohammad ^a,b   Dhillon, Varinderpal S ^c   Khalil, Hesham Saleh ^d   Sexana, Anubha ^b,e   Husain, Syed Akhtar ^b  

^a PRINCE SATTAM BIN ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^b JAMIA MILLIA ISLAMIA CENTRAL UNIVERSITY   (India)

^c CSIRO   (Australia)

^d KING SAUD UNIVERSITY   (Saudi Arabia)

^e UNIVERSITY OF SYDNEY   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; AZOOSPERMIA; CASE CONTROL STUDY; CONTROLLED STUDY; DAZ1 GENE; DAZ2 GENE; DAZ3 GENE; DAZ4 GENE; DISEASE SEVERITY; GENE; GENE DELETION; GENETIC ASSOCIATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MALE INFERTILITY; OLIGOSPERMIA; PRIORITY JOURNAL; SERTOLI CELL ONLY SYNDROME; SPERMATOGENESIS; TESTIS DISEASE; Y CHROMOSOME;

AZOOSPERMIA; CASE-CONTROL STUDIES; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, Y; HAPLOTYPES; HUMANS; INDIA; INFERTILITY, MALE; MALE; OLIGOSPERMIA; PREVALENCE; SEMINAL PLASMA PROTEINS;

EID: 78650057919     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.151     Document Type: Article

References (42)

1. 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: 825-837.
2. Krausz C, Degl'Innocenti S: Y chromosome and male infertility: update, 2006. Front Biosci 2006; 11: 3049-3061.
3. Foresta C, Moro E, Ferlin A: Y chromosome microdeletions and alterations of spermato-genesis. Endocr Rev 2001a; 22: 226-239.
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: 933-943.
5. Foresta C, Moro E, Ferlin A: Prognostic value of Y deletion analysis. The role of current methods. Hum Reprod 2001b; 16: 1543-1547.
6. Simoni M, Bakker E, Krausz C: EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl 2004; 27: 240-249.
7. 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: 279-286.
8. Repping S, Van Daalen S, Brown L et al: High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet 2006; 38: 463-467.
9. Repping S, Van Daalen S, Korver C et al: A family of human Y chromosome has dispersed throughout Northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics 2004; 83: 1046-1052.
10. 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: 2813-2824.
11. Repping S, Skaletsky H, Lange J et al: Recombination between palindromes P5 and P1 on the human Y chromosome causes massive deletions and spermatogenic failure. Am J Hum Genet 2002; 71: 906-922.
12. Repping S, Skaletsky H, Brown L et al: Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection. Nat Genet 2003; 35: 247-251.
13. De Llanos M, Ballesca JL, Gazquez C, Margarit E, Oliva R: High frequency of gr/gr chromosome Y deletions in consecutive oligospermic ICSI candidates. Hum Reprod 2005; 20: 216-220.
14. Ferlin A, Tessari A, Ganz F et al: Association of partial AZFc region deletions with spermatogenic impairment and male infertility. J Med Genet 2005; 42: 209-213.
15. Lynch M, Cram DS, Reilly A, O'bryan MK, Baker HW, de Kretser DM, McLachlan RI: The Y chromosome gr/gr subdeletion is associated with male infertility. Mol Hum Reprod 2005; 11: 507-512.
16. Giachini C, Laface I, Guarducci E, Balercia G, Forti G, Krausz C: Partial AZFc deletions and duplications: clinical correlates in the Italian population. Hum Genet 2008; 124: 399-410.
17. Visser L, Westerveld GH, Korver CM et al: Y chromosome gr/gr deletions are a risk factor for low semen quality. Hum Reprod 2009; 24: 2667-2673.
18. Machev N, Saut N, Longepied G et al.: Sequence family variant loss from the AZFc interval of the human Y chromosome; but not gene copy loss; is strongly associated with male infertility. J Med Genet 2004; 41: 814-825.
19. Hucklenbroich K, Gromoll J, Heinrich M, Hohoff C, Nieschlag E, Simoni M: Partial deletions in the AZFc region of the Y chromosome occur in men with impaired as well as normal spermatogenesis. Hum Reprod 2005; 20: 191-197.
20. Ravel C, Chantot-Bastaraud S, El-Houate B, Mandelbaum J, Siffroi J, McElreavey K: GR/GR deletions within the azoospermia factor c region on the Y chromosome might not be associated with spermatogenic failure. Fertil Steril 2006; 85: 229-231.
21. Carvalho CM, Zuccherato LW, Bastos-Rodrigues L, Santos FR, Pena SD: No association found between gr/gr deletions and infertility in Brazilian males. Mol Hum Reprod 2006; 12: 269-273.
22. Kuroki Y, Iwamoto T, Lee J et al: Spermatogenic ability is different among males in different Y chromosome lineage. J Hum Genet 1999; 44: 289-292.
23. Krausz C, Quintana-Murci L, Rajpert-De Meyts E et al: Identification of a Y chromosome haplogroup associated with reduced sperm counts. Hum Mol Genet 2001; 10: 1873-1877.
24. Yang Y, Ma M, Li L et al: Evidence for the association of Y-chromosome haplogroups with susceptibility to spermatogenic failure in a Chinese Han population. J Med Genet 2008; 45: 210-215.
25. Fernandes S, Huellen K, Goncalves J et al: High frequency of DAZ1/DAZ2 gene deletions in patients with severe oligozoospermia. Mol Hum Reprod 2002; 8: 286-298.
26. Giachini C, Guarducci E, Longepied G et al: The gr/gr deletion(s): a new genetic test in male infertility? J Med Genet 2005; 42: 497-502.
27. Krausz C, Giachini C, Xue Y et al: Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background. J Med Genet 2009; 46: 21-31.
28. World Health Organization: WHO Laboratory Manual for the Examination of Human Semen and Semen-Cervical Mucus Interactions, . 4th ed. University Press: Cambridge (UK), 1999.
29. Ferlin A, Bettella A, Tessari A, Salata E, Dallapiccola B, Foresta C: Analysis of the DAZ gene family in cryptorchidism and idiopathic male infertility. Fertil Steril 2004; 81: 1013-1018.
30. The Y Chromosome Consortium: A nomenclature for the tree of human Y-chromosomal binary haplogroups. Genome Res 2002; 12: 339-348.
31. Jobling MA, Tyler-Smith C: The human Y chromosome: an evolutionary marker comes of age. Nat Rev Genet 2003; 4: 598-612.
32. Carvalho CM, Pena SD: Optimization of a multiplex minisequencing protocol for population studies and medical genetics. Genet Mol Res 2005; 4: 115-125.
33. Ferlin A, Moro E, Rossi A, Dallapiccola B, Foresta C: The human Y chromosome's azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet 2003; 40: 18-24.
34. Fernando L, Gromoll J, Weerasooriya TR, Nieschlag E, Simoni M: Y-chromosomal microdeletions and partial deletions of the azoospermia factor c (AZFc) region in normozoospermic, severe oligozoospermic and azoospermic men in Sri Lanka. Asian J Androl 2006; 8: 39-44.
35. Zhang F, Li Z, Wen B et al: A frequent partial AZFc deletion does not Render an increased risk of spermatogenic impairment in East Asians. Ann Hum Genet 2005; 70: 304-313.
36. Wu B, Lu NX, Xia YK et al: A frequent Y chromosome b2/b3 subdeletion shows strong association with male infertility in Han-Chinese population. Hum Reprod 2007; 22: 1107-1113.
37. Imken L, El Houate B, Chafik A et al: AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men. Asian J Androl 2007; 9: 674-678.
38. Kim B, Lee Y, Kim Y et al: Polymorphic expression of DAZ proteins in the human testis. Hum Reprod 2009; 24: 1507-1515.
39. Lu C, Zhang J, Li Y et al: The b2/b3 subdeletion shows higher risk of spermatogenic failure and higher frequency of complete AZFc deletion than the gr/gr subdeletion in a Chinese population. Hum Mol Genet 2009; 18: 1122-1130.
40. Yen P: The fragility of fertility. Nat Genet 2001; 29: 243-244.
41. 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. Am J Hum Genet 2004; 74: 180-187.
42. Tuttelmann F, Rajpert-De Meyts E, Nieschlag E, Simoni M: Gene polymorphisms and male infertility-a meta-analysis and literature review. Reprod Biomed Online 2007; 15: 643-658.