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

Fertility and Sterility

Volumn 91, Issue 4, 2009, Pages 1293.e17-1293.e22

  Leng, Mei ^a   Li, Guangyuan ^b   Zhong, Liangwen ^a   Hou, Heli ^a   Yu, Dexin ^b   Shi, Qinghua ^a  

^a UNIVERSITY OF SCIENCE AND TECHNOLOGY OF CHINA   (China)

^b ANHUI MEDICAL UNIVERSITY   (China)

Author keywords

azoospermia; Chromosomal translocation; meiosis; recombination; synaptonemal complex (SC); transcriptional inactivation

Indexed keywords

ADULT; ARTICLE; AZOOSPERMIA; CASE REPORT; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; MALE; MEIOSIS; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; SPERMATOCYTE; TESTIS BIOPSY;

EID: 62949152096     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2008.12.049     Document Type: Article

References (38)

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