Fertility and Sterility
Volume 92, Issue 1 , Pages 88-95 , July 2009

A case-control study identifying chromosomal polymorphic variations as forms of epigenetic alterations associated with the infertility phenotype

  • Sheroy Minocherhomji, M.S.

      Affiliations

    • Department of Assisted Reproduction and Genetics, Jaslok Hospital and Research Centre, Mumbai, India
    • Psychiatry Research Program, Jaslok Hospital and Research Centre, Mumbai, India
    • ,
  • Arundhati S. Athalye, M.S.

      Affiliations

    • Department of Assisted Reproduction and Genetics, Jaslok Hospital and Research Centre, Mumbai, India
    • ,
  • Prochi F. Madon, Ph.D.

      Affiliations

    • Department of Assisted Reproduction and Genetics, Jaslok Hospital and Research Centre, Mumbai, India
    • ,
  • Dhananjay Kulkarni, M.S.

      Affiliations

    • Department of Assisted Reproduction and Genetics, Jaslok Hospital and Research Centre, Mumbai, India
    • ,
  • Shonali A. Uttamchandani, B.S.

      Affiliations

    • Department of Assisted Reproduction and Genetics, Jaslok Hospital and Research Centre, Mumbai, India
    • ,
  • Firuza R. Parikh, M.D.

      Affiliations

    • Department of Assisted Reproduction and Genetics, Jaslok Hospital and Research Centre, Mumbai, India
    • Corresponding Author InformationReprint requests: Firuza R. Parikh, M.D., Department of Assisted Reproduction and Genetics, Jaslok Hospital and Research Centre, 15, Dr. G. Deshmukh Marg, Mumbai-400 026, India (FAX: +91-22-6657-3133).

Received 4 January 2008 ,Revised 30 April 2008 ,Accepted 15 May 2008.

References 

  1. Borgaonkar DS. Chromosomal variation in man: a catalogue of chromosomal variants and anomalies. New York: Wiley-Liss; 1997;
  2. In:  Shaffer LG,  Tommerup N editor. ISCN: an international system for human cytogenetic nomenclature. Basel: S. Karger; 2005;p. 53–54
  3. Bhasin M. Human population cytogenetics: a review. Int J Hum Genet. 2005;5:83–152
  4. Madon PF, Athalye AS, Parikh FR. Polymorphic variants on chromosomes probably play a significant role in infertility. Reprod Biomed Online. 2005;11:726–732
  5. Antonelli A, Gandini L, Petrinelli P, Marcucci L, Elli R, Lombardo F, et al. Chromosomal alterations and male infertility. J Endocrinol Invest. 2000;23:677–683
  6. Hemming L, Burns C. Heterochromatic polymorphism in spontaneous abortions. J Med Genet. 1979;16:358–362
  7. Mau UA, Backert IT, Kaiser P, Kiesel L. Chromosomal findings in 150 couples referred for genetic counselling prior to intracytoplasmic sperm injection. Hum Reprod. 1997;112:930–937
  8. Duzcan F, Munevver G, Ozan G, Bagci H. Cytogenetic studies in patients with reproductive failure. Acta Obstet Gynecol Scand. 2003;82:53–56
  9. Meschede D, Lemcke B, Exeler JR, De Geyter C, Behre HM, Nieschlag E, et al. Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection—prevalence, types, sex distribution and reproductive relevance. Hum Reprod. 1998;13:576–582
  10. Nagvenkar P, Desai K, Hinduja I, Zaveri K. Chromosomal studies in infertile men with oligospermia & non-obstructive azoospermia. Indian J Med Res. 2005;112:34–42
  11. Dubey S, Chowdhury MR, Prahlad B, Kumar V, Mathur R, Hamilton S, et al. Cytogenetic causes for recurrent spontaneous abortions—an experience of 742 couples (1484 cases). Indian J Hum Genet. 2005;11:94–98
  12. Thomas IM. Cytogenetic basis of recurrent abortions. Perinatology. 1999;1:181–187
  13. Nielsen J. Large Y chromosome (Yq+) and increased risk of abortion. Clin Genet. 1978;13:415–416
  14. Giglio S, Broman KW, Mastumoto N, Calvari V, Gimelli G, Neumann T, et al. Olfactory receptor–gene clusters, genomic-inversion polymorphisms and common chromosome rearrangements. Am J Hum Genet. 2001;68:874–883
  15. Rao VB, Ghosh K. Chromosomal variants and genetic diseases. Indian J Hum Genet. 2005;11:59–60
  16. Blumberg BD, Shulkin JD, Rotter JI, Mohandas T, Kabak MM. Minor chromosomal variants and major chromosomal anomalies in couples with recurrent abortion. Am J Hum Genet. 1982;34:948–960
  17. Hennig W. Heterochromatin. Chromosoma. 1999;108:1–9
  18. Lissitsina J, Mikelsaar R, Varb K, Punab M. Cytogenetic study in infertile men. Ann Genet. 2003;46:185
  19. Mattei MG, Luciani J. Heterochromatin, from chromosome to protein. Atlas Genet Cytogenet Oncol Haematol. January 2003. Available at: http://AtlasGeneticsOncology.org/Educ/HeterochromEng.html
  20. Liu L, Li Y, Tollefsbol T. Gene environment interactions and the epigenetic basis of human diseases. Curr Issues Mol Biol. 2008;10:25–36
  21. Hartl FU. Molecular chaperones in cellular protein folding. Nature. 1996;381:571–580
  22. Morimoto RI. Regulation of the heat shock transcriptional response: cross talk between a family of heat shock factors, molecular chaperones, and negative regulators. Genes Dev. 1998;12:3788–3796
  23. Rizzi N, Denegri M, Chiodi I, Corioni M, Valgardsdottir R, Cobianchi F, et al. Transcriptional activation of a constitutive heterochromatic domain of the human genome in response to heat shock. Mol Biol Cell. 2004;15:543–551
  24. Morano KA, Thiele DJ. Heat shock factor function and regulation in response to cellular stress, growth, and differentiation signals. Gene Exp. 1999;7:271–282
  25. Jolly C, Konecny L, Grady DL, Kutskova YA, Cotto JJ, Morimoto RI. In vivo binding of active heat shock transcription factor 1 to human chromosome 9 heterochromatin during stress. J Cell Biol. 2002;156:775–781
  26. Ihaka R, Gentleman RR. A language for data analysis and graphics. J Comput Graph Stat. 1996;5:299–314
  27. Horvath J, Bailey J, Locke D. Lessons from the human genome: transitions between euchromatin and heterochromatin. Hum Mol Genet. 2001;10:2215–2223
  28. Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, et al. DNA sequence and analysis of human chromosome 9. Nature. 2004;429:369–374
  29. Madan K, Bobrow M. Structural variation in chromosome No 9. Ann Genet. 1974;17:81–86
  30. Uehara S, Akai Y, Takeyama Y, Takabayashi T, Okamura K, Yajima A. Pericentric inversion of chromosome 9 in prenatal diagnosis and infertility. Tohoku J Exp Med. 1992;166:417–427
  31. Osman D, Deniz T. Cytogenetic findings in 250 schizophrenics: evidence confirming an excess of the X chromosome aneuploidies and pericentric inversion of chromosome 9. Schizophr Res. 1999;40:43–47
  32. Krausz C, Forti G, McElreavey K. The Y chromosome and male fertility and infertility. Int J Androl. 2003;26:70–75
  33. Vinci G, Raicu F, Popa L, Popa O, Cocos R, McElreavey K. A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia. Mol Hum Reprod. 2005;11:295–298
  34. Hamer J, Atley L, McGowan MP, Kovacs GT. Chromosomal variants and male fertility. Fertil Steril. 1981;36:81–83
  35. Kayhan Y, Basak B, Bulent U. Is there a possible correlation between chromosomal variants and spermatogenesis?. Int J Urol. 2005;12:984–989
  36. Colombero LT, Hariprashad JJ, Tsai MC, Rosenwaks Z, Palermo GD. Incidence of sperm aneuploidy in relation to semen characteristics and assisted reproductive outcome. Fertil Steril. 1999;72:90–96
  37. Tilford CA, Kuroda-Kawaguchi T, Skaletsky H, Rozen S, Brown LG, Rosenberg M, et al. A physical map of the human Y chromosome. Nature. 2000;409:943–945
  38. 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. 2000;423:825–837
  39. Eiben B, Leiopoldt M, Rammelsberg O, Krause W, Engel W. High incidence of minor chromosomal variants in teratozoospermic males. Andrologia. 1987;19:684–687
  40. Nakamura Y, Kitamura M, Nishimura K, Koga M, Kondoh N, Takeyama M, et al. Chromosomal variants among 1790 infertile men. Int J Urol. 2001;8:49–52
  41. Cryderman DE, Cuaycong MH, Elgin SC, Wallrath LL. Characterization of sequences associated with position effect variegation at pericentric sites in Drosophila heterochromatin. Chromosoma. 1998;107:277–285
  42. Laura NR, Jasper R. Conversion of a gene-specific repressor to a regional silencer. Genes Dev. 2001;15:955–967
  43. Greally JM, Lombroso PJ. Genetics of childhood disorders VIII. Making sense out of nonsense. J Am Acad Child Adolesc Psychiatry. 1999;38:1458–1461
  44. Nakatsu SL, Masek MA, Landrum S, Frenster JH. Activity of DNA templates during cell division and cell differentiation. Nature. 1974;248:334–335
  45. Frenster JH, Herstein PR. Gene de-repression. New Engl J Med. 1973;288:1224–1229
  46. Sun BK, Deaton AM, Lee JT. A transient heterochromatic state in Xist preempts X inactivation choice without RNA stabilization. Mol Cell. 2006;21:617–628
  47. Lyon MF. Gene action in the X-chromosome of the mouse (Mus musculus L.). Nature. 1961;190:372–373
  48. Gardner RJM, Sutherland GR. Chromosome abnormalities and genetic counseling. 3rd ed.. Oxford: Oxford University Press; 2003;
  49. Carothers AD, Buckton KE, Collyer S, De Mey R, Frackiewicz A, Piper J, et al. The effect of variant chromosomes on reproductive fitness in man. Clin Genet. 1982;21:280–289
  50. Bobrow M. Heterochromatic chromosome variation and reproductive failure. Exp Clin Immunogenet. 1985;2:97–105

 S.M. has nothing to disclose. A.S.A. has nothing to disclose. P.F.M. has nothing to disclose. D.K. has nothing to disclose. S.A.U. has nothing to disclose. F.R.P. has nothing to disclose.

 Supported and funded by research project grants RP 398 and 317 of Jaslok Hospital and Research Centre Mumbai, India.

PII: S0015-0282(08)01186-2

doi: 10.1016/j.fertnstert.2008.05.071

Fertility and Sterility
Volume 92, Issue 1 , Pages 88-95 , July 2009

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