Y choromosomal microdeletion screening in the workup of male infertility and its current status in India

International Journal of Fertility and Sterility

Volumn 7, Issue 4, 2014, Pages 253-266

  Suganthi, Ramaswamy ^a   Vijesh, Vijayabhavanath Vijayakumaran ^a   Vandana, Nambiar ^a   Benazir, Jahangir Ali Fathima ^b  

^a Dr GR Damodaran College of Science   (India)

^b INDIAN INSTITUTE OF SCIENCE   (India)

Author keywords

Intracytoplasmic Sperm Injection; Male Infertility; Sequence Tagged Site; Y Chromosome Microdeletions

Indexed keywords

ASPERMIA; AZOOSPERMIA; CHROMOSOME DELETION Y; CHROMOSOME MARKER; DISEASE TRANSMISSION; FERTILIZATION IN VITRO; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HEREDITY; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; INDIA; INFERTILITY THERAPY; INTRACYTOPLASMIC SPERM INJECTION; MALE; MALE INFERTILITY; NUCLEOTIDE SEQUENCE; OLIGONUCLEOTIDE PROBE; OLIGOSPERMIA; POLYMERASE CHAIN REACTION; REVIEW; SEQUENCE TAGGED SITE; SERTOLI CELL ONLY SYNDROME; SPERMATOGENESIS; SYSTEMATIC REVIEW; TESTICULAR SPERM EXTRACTION; X CHROMOSOME; Y CHROMOSOME;

EID: 84891105901     PISSN: 2008076X     EISSN: 20080778     Source Type: Journal    
DOI: None     Document Type: Review

References (95)

1. Boivin J, Bunting L, Collins JA, Nygren KG. International estimates of infertility prevalence and treatment-seeking: potential need and demand for infertility medical care. Hum Reprod. 2007; 22(6): 1506-1512.
2. Bushnik T, Cook JL, Yuzpe AA, Tough S, Collins J. Estimating the prevalence of infertility in Canada. Hum Reprod. 2012; 27(3): 738-746.
3. Rowe Patrick J, Frank H. C., WHO manual for the standardized investigation, diagnosis and management of the infertile male. Cambridge University Press; 2000.
4. Kamali M, Baghestani AR, Kashfi F, Kashani H, Tavajohi S, Amirchagmaghi E. A survey on infertility in Royan Institute. Int J Fertil Steril. 2007; 1(1): 23-26.
5. Perheentupa A, Vierula M, Jorgensen N, Skakkebæk NE, Chantot-Bastaraud S, McElreavey K, et al. No association between the major y chromosome haplogroup and semen quality in Finnish men. Poster viewing session-reproduc tive (EPI) genetics. Hum Reprod. 2011; 26(1): i278-i296.
6. Kim MJ, Choi HW, Park SY, Song IO, Seo JT, Lee HS. Molecular and cytogenetic studies of 101 infertile men with microdeletions of Y chromosome in 1,306 infertile Korean men. J Assist Reprod Genet. 2012; 29(6): 539-546.
7. Zhu XB, Liu YL, Zhang W, Ping P, Cao1 XR, Liu Y, et al. Vertical transmission of the Yq AZFc microdeletion from father to son over two or three generations in infertile Han Chinese families. Asian J Androl. 2010; 12(2): 240-246.
8. Yu Lin P, Yung-Ming Lin Y. Genetic diagnosis in male infertility. Urol Sci. 2010; 21(2): 75-80.
9. Cooper TG, Noonan E, Eckardstein SV, Auger J, Baker HWJ, Behre HM, et al. World Health Organization reference values for human semen characteristics. Hum Reprod. 2010; 16(3): 231-245.
10. Krauz C. Genetic testing of male infertility. Reproductiv Endocrinology and Infertility. 2010; (3): 431-444.
11. Seda O, Liska F, Sedova L. Sex Determination. Multimedia E-textbook of Medical Biology, Genetics and Genomics. Czech Republic: Institute of Biology and Medical Genetics of the First Faculty of Medicine of Charles University and the General Teaching Hospital; 2005.
12. Bachtrog D, Charlesworth B. Towards a complete sequence of the human Y chromosome. Genome Biol. 2001; 2(5): 1016.
13. Repping S, Skaletsky H, Lange J, Silber S, Van Der Veen F, Oates RD, 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(4): 906-922.
14. Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003; 423: (6942): 825-837.
15. Li Z, Haines CJ, Han Y. Micro-deletions of the human Y chromosome and their relationship with male infertility. J Genet Genomics. 2008; 35(4): 193-199.
16. Simoni M, Bakker E, Krausz C. EAA/EMQN best practice guidelines for molecular diagnosis of Y chromosomal microdeletions. Int J Androl. 2004; 27(4): 240-249.
17. Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent position of the human Y chromosome long arm. Hum Genet. 1976; 34(2): 119-124.
18. Vergnaud G, Page DC, Simmler MC, Brown L, Rouyer F, Noel B, et al. A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet. 1986; 38(2): 109-124.
19. Foote S, Vollrath D, Hilton A, Page DC. The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science. 1992; 258(5079): 60-66.
20. Vollrath D, Foote S, Hilton A, Brown LG, Beer-Romero P, Bogan JS, et al. The human Y chromosome: a 43-interval map based on naturally occurring deletions. Science. 1992; 258(5079): 52-59.
21. Tilford C, Kuroda-Kawaguchi T, Skaletsky H, Rozen S, Brown LG, Rosenberg M, et al. A physical map of the human Y chromosome. Nature. 2001; 409(6822): 943-945.
22. Quintana-Murci L.K., McElreavey K. Prognostic value of Y deletion analysis: What is the clinical prognostic value of Y chromosome microdeletion analysis?. Hum Reprod. 2000; 15(7): 1431-1434.
23. Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, et al. Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y chromosome microdeletion detection. Mol Reprod Dev. 1999; 53(1): 27-41.
24. Kent-First M, Muallem A, Shultz J, Pryor J, Roberts K, Nolten W, et al. Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y chromosome microdeletion detection. Mol Reprod Dev. 1999; 53(1): 27-41.
25. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet. 1996; 5(7): 933-943.
26. Vogt PH. Azoospermia factor (AZF) in Yq11: towards a molecular understanding of its function for human male fertility and spermatogenesis. Reprod Biomed Online. 2005; 10(1): 81-93.
27. Ferlin A, Arredi B, Speltra E, Cazzadore C, Selice R, Garolla A, et al. Molecular and clinical characterization of Y chromosome microdeletions in infertile men: A 10-year experience in Italy. J Clin Endocrinol Metab. 2007; 92(3): 762-770.
28. Foresta C, Moro E, Ferlin A. Y chromosome microdeletions and alterations of spermatogenesis. Endocr Rev. 2001; 22 (2): 226-239
29. Sun C, Skaletsky H, Birren B, Devon K, Tang Z, Silber S, et al. An azoospermic man with a de-novo point mutation in the Ychromosomal gene USP9Y. Nat Genet. 1999; 23(4): 429-432.
30. Krausz C, Degl'Innocenti S. Y chromosome and male infertility: update, 2006. Front Biosci. 2006; 11: 3049-3061.
31. Krausz C, Degl'Innocenti S, Nuti F, Morelli A, Felici F, Sansone M, et al. Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility. Hum Mol Genet. 2006; 15(18): 2673-2681.
32. Brown GM, Furlong RA, Sargent CA, Erickson RP, Longepied G, Mitchell M, et al. Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the DFFRY gene. Hum Mol Genet. 1998; 7(1): 97-107
33. Ditton HJ, Zimmer J, Kamp C, Rajpert-De Meyts E, Vogt PH. The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control. Hum Mol Genet. 2004; 13(19): 2333-2341.
34. Kamp C, Hirschmann P, Voss H, Huellen K, Vogt PH. Two long homologous retroviral sequence blocks in proximal Yq11 cause AZFa microdeletions as a result of intrachromosomal recombination events. Hum Mol Genet. 2000; 9(17): 2563-2572.
35. Kostiner DR, Turek PJ, Reijo RA. Male infertility: analysis of the markers and genes on the human Y chromosome. Hum Reprod. 1998; 13(11): 3032-3038.
36. Faure AK, Aknin-Seifer I, Satre V, Amblard F, Devillard F, Hennebicq S, et al. Fine mapping of re-arranged Y chromosome in three infertile patients with non-obstructive azoospermia/cryptozoospermia. Hum Reprod. 2007; 22(7): 1854-1860
37. Kamp C, Huuellen K, Fernandes S, Sousa M, Schlegel PN, Mielnik A, et al. High deletion frequency of the complete AZFa sequence in men with Sertoli cell syndrome. Mol Hum Reprod. 2001; 7(10): 987-994.
38. Lange J, Skaletsky H, Bel GW, Page D. MSY Breakpoint Mapper, a database of sequence-tagged sites useful in defining naturally occurring deletions in the human Y chromosome. Nucleic Acids Res. 2008; 36 (Database issue): D809-D814.
39. Hopps CV, Mielnik A, Goldstein M, Palermo GD, Rosenwaks Z, Schlegel PN. Detection of sperm in men with Ychromosome microdeletions of the AZFa, AZFb and AZFc regions. Hum Reprod. 2003; 18(8): 1660-1665.
40. Navarro-Costa P, Plancha CE, Gonçalves J. Genetic dissection of the AZF regions of the human Y chromosome: thriller or filler for male (in)fertility. J Biomed Biotechnol. 2010; 2010: 936569.
41. Ferlin A, Moro E, Rossi A, Dallapiccola B, Foresta C. The human Y chromosomes azoospermia factor b (AZFb) region: sequence, structure, and deletion analysis in infertile men. J Med Genet. 2003; 40(1): 18-24.
42. Lin YM, Lin YH, Teng YN, Hsu CC, Lin JSN, Kuo PL. Gene based screening for Y chromosome deletions in Taiwan-ese men presenting with spermatogenic failure. Fertil Steril. 2002; 77(5): 897-903.
43. Simoni M, Tüttelmann F, Gromoll J, Nieschlag E. Clinical consequences of microdeletions of the Y chromosome: the extended Munster experience. Reprod Biomed Online. 2008; 16(2): 289-303.
44. Costa P, Goncalves R, Ferra C, Fernandes S, Fernandes AT, Sousa M, et al. Identification of new breakpoints in AZFb and AZFc. Mol Hum Reprod. 2008; 14(4): 251-258.
45. Kuroda-Kawaguchi T, Skaletsky H, Brown LG, Minx PJ, Cordum HS, Waterson RH, et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet. 2001; 29(3): 279-286.
46. Ravel C, Chantot-Bastaraud S, El Houate B, Rouba H, Legendre M, Lorencxo D, et al. Y chromosome AZFc structural architecture and relationship to male fertility. Fertil Steril. 2009; 92 (6): 1924-1933.
47. Saxena R, de Vries JW, Repping S, Alagappan RK, Skaletsky H, Brown LG, et al. Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome. Genomics. 2000; 67(3): 256-267.
48. 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(11): 2813-2824.
49. Lin YW, Hsu CL, Yen PH. A two-step protocol for the detection of rearrangements at the AZFc region on the human Y chromosome. Mol Hum Reprod. 2006; 12(5): 347-351.
50. Lynch M, Cram DS, Reilly A, O'Bryan MK, Baker HWG, de Kretser DM, et al. The Y chromosome gr/gr sub deletion is associated with male infertility. Mol Hum Reprod. 2005; 11(7): 507-512.
51. Repping S, Skaletsky H, Brown L, van Daalen SK, Korver CM, Pyntikova T, 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(3): 247-251.
52. Repping S, van Daalen SK, Korver CM, Brown LG, Marszalek JD, Gianotten J, et al. A family of human Y chromosomes has dispersed throughout northern eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics. 2004; 83(6): 1046-1052.
53. Sun K, Chen XF, Zhu XB, Hu HL, Zhang W, Shao FM, et al. A new molecular diagnostic approach to assess Y chromosome microdeletions in infertile men. J Int Med Res. 2012; 40(1): 237-248
54. Patrick DF, Maher E, Sharkey F, Wilkie N. Application of array-CGH for the detection of submicroscopic chromosomal Imbalances in 400 cases of children with idiopathic mental retardation and congenital malformations. Ulster Med J. 2008; 78 (1): 65-74.
55. Bejjani BA, Shaffer LG. Application of array-based comparative genomic hybridization to clinical diagnostics. J Mol Diagn. 2006; 8(5): 528-533.
56. Bor P, Hindkjaer J, Kolvraa S, Ingerslev HJ. A New Approach for screening for Y microdeletions: capillary electrophoresis combined with fluorescent multiplex PCR. J Assist Reprod Genet. 2003; 20(1): 46-51.
57. Briton-Jones C, Haines CJ. Microdeletions on the long arm of the Y chromosome and their association with malefactor infertility. Hong Kong Med J. 2000; 6(2): 184-189.
58. Kobayashi K, Mizuno K, Hida A, Komakl R, Tomita K, Matsushita I, et al. PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum Mol Genet. 1994; 3(11): 1965-1967.
59. Repping S, van daalen SK, Brown LG, Korver CM, Lange J, Marzalek JD, et al. High mutation rates have driven extensive structural polymorphism among human Y chromosomes. Nat Genet. 2006; 38(4): 463-467.
60. Edwards RG, Bishop CE. On the origin and frequency of Y chromosome deletions responsible for severe male infertility. Mol Hum Reprod. 1997; 3(7): 549-554.
61. Kleiman SE, Yogev L, Gamzu R, Hauser R, Botchan A, Lessing JB, et al. Genetic evaluation of infertile men. Hum Reprod. 1999; 14(1): 33-38.
62. Reijo R, Alagappan RK, Patrizio P, Page DC. Severe oligozoospermia resulting from deletions of azoospermia factor gene on the Y chromosome. Lancet. 1996; 347(9011): 1290-1293.
63. Le Bourhis C, Siffori JP, McElreavy K, Dadoune JP. Y chromosomal microdeletions and germinal mosaicism in infertile males. Mol Hum Reprod. 2000; 6(8): 688-693
64. Dada R, Kumar R, Shamsi MB, Kumar R, Kucheria K, Sharma RJ, et al. Higher frequency of Yq microdeletions in sperm DNA as compared to DNA isolated from blood. Asian J Androl. 2007; 9 (5): 720-722.
65. Sakthivel PJ, Swaminathan M. Y chromosome microdeletions in sperm DNA of infertile patients from Tamil Nadu, south India. Indian J Urol. 2008; 24(4): 480-485.
66. Babazadeh Z, Razavi S, Tavalaee M, Deemeh M, Shahidi M, Nasr-Esfahani MH. Sperm DNA damage and its relation with leukocyte DNA damage. Reprod Toxicol. 2010; 29(1): 120-124.
67. Olson M, Hood L, Cantor C, Botstern D. A common language for physical mapping of the human genome. Science. 1989; 245(4925): 1434-1435.
68. Simoni M, Kamischke A, Nieschlag E. Current status of the molecular diagnosis of Y chromosomal microdeletions in the work-up of male infertility. Initiative for international quality control. Hum Reprod. 1998; 13(7): 1764-1768.
69. Pryor JL, Roberts KP. Principles of sequence-tagged site selection in screening for Y deletions. Hum Reprod. 1998; 13(7): 1768.
70. Najmabadi H, Huang V, Yen P, Subbarao MN, Bhasin D, Banaag L, et al. Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequencetagged site-based mapping strategy. J Clin Endocrinol Metab. 1996; 81(4): 1347-1352.
71. Hellani A, Al-Hassan S, Al-Duraihim A, Coskun S. Y chromosome microdeletions: are they implicated in teratozoospermia?. Hum Reprod. 2005; 20(12): 3505-3509.
72. Bianchi NO. Y chromosome structural and functional changes in human malignant diseases. Mutat Res. 2009; 682(1): 21-27.
73. Palermo G, Joris H, Devroey P, Van Steirteghem AC. Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet. 1992; 340(8810): 17-18.
74. Foresta C, Garolla A, Bartoloni L, Bettella A, Ferlin A. Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab. 2005; 90(1): 152-156.
75. Bonduelle M, Wennerholm UB, Loft A, Tarlatzis BC, Peters C, Henriet S, et al. A multi-centre cohort study of the physical health of 5-year-old children conceived after intracytoplasmic sperm injection, in vitro fertilization and natural conception. Hum Reprod. 2005; 20(2): 413-419.
76. Cox GF, Burger J, Lip V, Mau UA, Sperling K, Wu BL, et al. Intracytoplasmic sperm injection may increase the risk of imprinting defects. Am J Hum Genet. 2002; 71(1): 162-164.
77. Dohle GR, Halley DJ, Van Hemel JO, Van den Ouweland AM, Pieters MH, Weber RF, et al. Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod. 2002; 17(1): 13-16.
78. Feng C, Wang LQ, Dong MY, Huang HF. Assisted reproductive technology may increase clinical mutation detection in male offspring. Fertil Steril. 2008; 90(1): 92-96.
79. Salahshourifar I, Sadighi Gilani MA, Masoudi NS, Gourabi H. Chromosomal abnormalities in Iranian infertile males who are candidates for assisted reproductive techniques. Int J Fertil Steril. 2007; 1(2): 75-79.
80. Ahmadi SE, Nateghi MR, Gourabi H, Mozafari Kermani R, Jarollahi F, Afsharpour S, et al. Frequency of hearing defect and ear abnormalities in newborns conceived by assisted reproductive techniques in Royan Institute. Int J Fertil Steril. 2010; 4(2): 79-84.
81. Nudel DM, Lipshultz LI. Is intracytoplasmic sperm injection safe? current status and future concerns. Curr Uro Rep. 2001; 2(6): 423-431.
82. Soini S, Ibarreta D, Anastasiadou V, Ayme S, Braga S, Cornel M, et al. The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues. Euro J Hum Genet. 2006; 14(5): 588-645.
83. Stouffs K, Lissens W, Tournaye H, Van Steirteghem A, Liebaers L. The choice and outcome of the fertility treatment of 38 couples in whom the male partner has a Yq microdeletion. Hum Reprod. 2005, 20(7): 1887-1896.
84. Simpson JL. Children born after preimplantation genetic diagnosis show no increase in congenital anomalies. Hum Reprod. 2010; 25(1): 6-8.
85. Chandramauli C. Census of India 2011: provisional population totals paper 1 of 2011 India Series 1 ([E-book]). India: Office of the Registrar General & Census Commissioner; 2011.
86. Seshagiri P. Molecular insights into the causes of male infertility. J Biosci. 2001; 26 (4 Suppl): 429-435.
87. Pandey LK, Pandey S, Gupta J, Saxena AK. Loss of the AZFc region due to a human Y chromosome microdeletion in infertile male patients. Genet Mol Res. 2010; 9 (2): 1267-1273.
88. Viswambharan N, Suganthi R, Simon AM, Manonayaki S., Male infertility: polymerase chain reaction-based deletion mapping of genes on the human chromosome. Singapore Med J. 2007; 48(12): 1140-1142.
89. Dada R, Gupta NP, Kucheria K. Molecular screening for Yq microdeletion in men with idiopathic oligospermic and azoospermia. J Biosci. 2003; 28(2): 163-168.
90. Athalye AS, Madon PF, Naik NJ, Naik DJ, Gavas SS, Dhumal SB, et al. A study of Y chromosome microdeletions in infertile Indian males. Int J Hum Genet. 2004; 4(3): 179-185.
91. th Annual meeting of ISSRF and symposium on trends in molecular and applied approaches to reproduotion; 2005 Feb 4-6; Kolkata, India: 79.
92. Suganthi R, Manonayaki S, Benazir JF. Molecular analy sis of Y-chromosome microdeletions in infertile men. Int J of Med Sci. 2009; 2 (1): 54-60.
93. Suganthi R, Vijesh VV, Chitra J, Sreelekha G, Ali Fathima., Benazir J. Rapid detection of Y chromosome microdeletions in infertile south Indian men with oligoor azoospermia. Proceedings of international conference on genomics and proteomics; 2011 Jul 14-16; India: National Institute of Technology (NIT); Calicut. 216: 79-84.
94. Thangaraj K, Gupta NJ, Pavani K, Reddy AG, Subra manian S, Rani DS, et al. Y chromosome deletions in azoospermic men in India. J Androl. 2003; 24(4): 588-597.
95. Hellani A, Al-Hassan S, Iqbal MA, Coskun S. Y chro mosome microdeletions in infertile men with idiopathic oligoor azoospermia. J Exp Clin Assist Reprod. 2006; 3:1.