Fertility and Sterility
Volume 91, Issue 4 , Pages 1293.e17-1293.e22 , April 2009

Abnormal synapses and recombination in an azoospermic male carrier of a reciprocal translocation t(1;21)

  • Mei Leng, B.S.

      Affiliations

    • Laboratory of Molecular and Cell Genetics, Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Anhui, People's Republic of China
    • ,
  • Guangyuan Li, M.M.

      Affiliations

    • Department of Urology, the First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, People's Republic of China
    • ,
  • Liangwen Zhong, B.S.

      Affiliations

    • Laboratory of Molecular and Cell Genetics, Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Anhui, People's Republic of China
    • ,
  • Heli Hou, B.S.

      Affiliations

    • Laboratory of Molecular and Cell Genetics, Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Anhui, People's Republic of China
    • ,
  • Dexin Yu, M.M.

      Affiliations

    • Department of Urology, the First Affiliated Hospital, Anhui Medical University, Hefei, Anhui, People's Republic of China
    • ,
  • Qinghua Shi, Ph.D.

      Affiliations

    • Laboratory of Molecular and Cell Genetics, Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Anhui, People's Republic of China
    • Corresponding Author InformationReprint requests: Qinghua Shi, Ph.D., Laboratory of Molecular and Cell Genetics, Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, Hefei, Anhui 230027, China (FAX: +86-551-3600344).

Received 9 August 2008 ,Revised 27 November 2008 ,Accepted 10 December 2008.

References 

  1. Hamerton JL, Canning N, Ray M, Smith S. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet. 1975;8:223–243
  2. De Braekeleer M, Dao TN. Cytogenetic studies in male infertility: a review. Hum Reprod. 1991;6:245–250
  3. Estop A, Van Kirk V, Cieply K. Segregation analysis of four translocations, t(2;18), t(3;15), t(5;7), and t(10;12), by sperm chromosome studies and a review of the literature. Cytogenet Cell Genet. 1995;70:80–87
  4. Martin RH, Spriggs E. Sperm chromosome complements in a man heterozygous for a reciprocal translocation 46,XY, t(9;13)(q21.1;q21.2) and a review of the literature. Clin Genet. 1995;47:42–46
  5. Cifuentes P, Navarro J, Blanco J, Vidal F, Miguez L, Egozcue J, et al. Cytogenetic analysis of sperm chromosomes and sperm nuclei in a male heterozygous for a reciprocal translocation t(5;7)(q21;q32) by in situ hybridization. Eur J Hum Genet. 1999;7:231–238
  6. Shi Q, Martin RH. Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction. 2001;121:655–666
  7. Baschat AA, Kupker W, al Hasani S, Diedrich K. Schwinger E. Results of cytogenetic analysis in men with severe subfertility prior to intracytoplasmic sperm injection. Hum Reprod. 1996;12:330–333
  8. Meschede D, Louwer F, Eiben BJH. Intracytoplasmic sperm injection pregnancy with fetal trisomy 9p resulting from a balanced paternal translocation. Hum Reprod. 1997;12:1913–1914
  9. Solari AJ. Synaptonemal complex analysis in human male infertility. Eur J Histochem. 1999;43:265–276
  10. Baker SM, Plug AW, Prolla TA, Bronner CE, Harris AC, Yao X, et al. Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over. Nat Genet. 1996;13:336–342
  11. Barlow AL, Hulten MA. Crossing over analysis at pachytene in man. Eur J Hum Genet. 1998;6:350–358
  12. Pigozzi MI, Sciurano RB, Solari AJ. Changes in crossover distribution along a quadrivalent in a man carrier of a reciprocal translocation t(11;14). Biocell. 2005;29:195–203
  13. Oliver-Bonet M, Benet J, Sun F,Navarro J, Abad C, Liehr T, et al. Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure. Hum Reprod. 2005;20:683–688
  14. Sun F, Oliver-Bonet M, Turek PJ, Ko E, Martin RH. Meiotic studies in an azoospermic human translocation (Y;1) carrier. Mol Hum Reprod. 2005;11:361–364
  15. Ferguson KA, Chow V, Ma S. Silencing of unpaired meiotic chromosomes and altered recombination patterns in an azoospermic carrier of a t(8;13) reciprocal translocation. Hum Reprod. 2008;23:988–995
  16. Monesi V. Synthetic activities during spermatogenesis in the mouse. Exp Cell Res. 1965;39:197–224
  17. McKee BD, Handel MA. Sex chromosomes, recombination and chromatin conformation. Chromosoma. 1993;102:71–80
  18. Turner JM, Aprelikova O, Xu X, Wang R, Kim S, Chandramouli GV, et al. BRCA1, histone H2AX phosphorylation, and male meiotic sex chromosome inactivation. Curr Biol. 2004;14:2135–2142
  19. Baarends WM, Wassenaar E, van der Laan R, Hoogerbrugge J, Sleddens-Linkels E, Hoeijmakers JHJ, et al. Silencing of unpaired chromatin and histone H2A ubiquitination in mammalian meiosis. Mol Cell Biol. 2005;25:1041–1053
  20. Fernandez-Capetillo O, Mahadevaiah SK, Celeste A, Romanienko PJ, Camerini-Otero RD, Bonner WM, et al. H2AX is required for chromatin remodeling and inactivation of sex chromosomes in male mouse meiosis. Dev Cell. 1993;4:497–508
  21. Turner JM, Mahadevaiah SK, Fernandez-Capetillo O, Nussenzweig A, Xu X, Deng CX, et al. Silencing of unsynapsed meiotic chromosomes in the mouse. Nat Genet. 2005;37:41–47
  22. Xu X, Aprelikova O, Moens P, Deng CX, Furth PA. Impaired meiotic DNA-damage repair and lack of crossing-over during spermatogenesis in BRCA1 full length isoform deficient mice. Development. 2003;130:2001–2012
  23. Judis L, Chan ER, Schwartz S, Seftel A, Hassold T. Meiosis I arrest and azoospermia in an infertile male explained by failure of formation of a component of the synaptonemal complex. Fertil Steril. 2004;81:205–209
  24. Sun F, Oliver-Bonet M, Liehr T, Starke H, Ko E, Rademaker A, et al. Human male recombination maps for individual chromosomes. Am J Hum Genet. 2004;74:521–531
  25. Ishikawa T, Kondo Y, Yamaguchi K, Oba T, Sakamoto Y, Takenaka A, et al. An unusual reciprocal X-autosome translocation in an infertile azoospermic man. Fertil Steril. 2007;88:15–17
  26. Sun F, Trpkov K, Rademaker J, Ko E, Martin RH. Variation in meiotic recombination frequencies among human males. Hum Genet. 2005;116:172–178
  27. Codina-Pascual M, Oliver-Bonet M, Navarro J, Campillo M, García F, Egozcue S, et al. Synapsis and meiotic recombination analyses: MLH1 focus in the XY pair as an indicator. Hum Reprod. 2005;20:2133–2139
  28. Shi Q, Spriggs E, Field LL, Ko E, Barclay L, Martin RH. Single sperm typing demonstrates that reduced recombination is associated with the production of aneuploid 24. XY human sperm.Am J Med Genet. 2001;99:34–38
  29. Lejeune J. Autosomal disorders. Pediatrics. 1963;32:326–337
  30. Lifschytz E, Lindsley DL. The role of X-chromosome inactivation during spermatogenesis (Drosophila-allocycly-chromosome evolution-male sterility-dosage compensation). Proc Natl Acad Sci USA. 1973;69:182–186
  31. Saussine C, Gabriel-Robez O, Rumpler Y. Pattern of ribonucleic acid synthesis in human primary spermatocytes. Andrologia. 1994;26:139–141
  32. Jaafar H, Gabriel-Robez O, Rumpler Y. Pattern of ribonucleic acid synthesis in vitro in primary spermatocytes from mouse testis carrying an X-autosome translocation. Chromosoma. 1989;98:330–334
  33. Sciurano R, Rahn M, Rey-Valzacchi M, Solari AJ. The asynaptic chromatin in spermatocytes of translocation carriers contains the histone variant γ-H2AX and associates with the XY body. Hum Reprod. 2007;22:142–150
  34. Genschel J, Bazemore LR, Modrich P. Human exonuclease I is required for 50 and 30 mismatch repair. J Biol Chem. 2002;277:13302–13311
  35. Plug AW, Peters AH, Xu Y, Keegan KS, Hoekstra MF, Baltimore D, et al. ATM and RPA in meiotic chromosome synapsis and recombination. Nat Genet. 1997;17:457–461
  36. Plug AW, Peters AH, Keegan KS, Hoekstra MF, de Boer P, Ashley T. Changes in protein composition of meiotic nodules during mammalian meiosis. J Cell Sci. 1998;111:413–423
  37. Oliver-Bonet M, Ko E, Martin RH. Male infertility in reciprocal translocation carriers: the sex body affair. Cytogenet Genome Res. 2005;111:343–346
  38. Odorisio T, Rodriguez TA, Evans EP, Clarke AR, Burgoyne PS. The meiotic checkpoint monitoring synapsis eliminates spermatocytes via p53-independent apoptosis. Nat Genet. 1998;18:257–261

 M.L. has nothing to disclose. G.L. has nothing to disclose. L.Z. has nothing to disclose. H.H. has nothing to disclose. D.Y. has nothing to disclose. Q.S. has nothing to disclose.

 Supported by the National Basic Research Program (2006CB504003, 2007CB947401) of China (973), the Program of “One Hundred Talented People” (KJ207004) of Chinese Academy of Sciences and the Program of Knowledge Innovation (KSCX1-YW-R-51) of Chinese Academy of Sciences.

PII: S0015-0282(08)04742-0

doi: 10.1016/j.fertnstert.2008.12.049

Fertility and Sterility
Volume 91, Issue 4 , Pages 1293.e17-1293.e22 , April 2009

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