Accumulation of numerical and structural chromosome imbalances in spermatozoa from reciprocal translocation carriers

Human Reproduction

Volumn 28, Issue 3, 2013, Pages 840-849

  Godo, A ^a   Blanco, J ^a   Vidal, F ^a   Anton, E ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

fluorescent in situ hybridization; interchromosomal effect; meiotic segregation; reciprocal translocation; spermatozoa

Indexed keywords

ANEUPLOIDY; ARTICLE; ASTHENOSPERMIA; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME REARRANGEMENT; CHROMOSOME SEGREGATION; CLINICAL ARTICLE; CONTROLLED STUDY; DIPLOIDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC RISK; HUMAN; HUMAN CELL; MALE; OLIGOSPERMIA; RECIPROCAL CHROMOSOME TRANSLOCATION; REPRODUCTION; SEMEN ANALYSIS; SEX CHROMOSOME; SPERMATOZOON; STRUCTURAL CHROMOSOME ABERRATION; Y CHROMOSOME;

EID: 84874300587     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/des431     Document Type: Article

References (55)

1. Anton E, Vidal F, Blanco J. Reciprocal translocations: tracing their meiotic behavior. Genet Med 2008;10: 730-738.
2. Anton E, Vidal F, Blanco J. Interchromosomal effect analyses by sperm FISH: incidence and distribution among reorganization carriers. Syst Biol Reprod Med 2011;57: 268-278.
3. Armstrong SJ, Hulte MA. Meiotic segregation analysis by FISH investigations in sperm and spermatocytes of translocation heterozygotes. Eur J Hum Genet 1998;6: 430-431.
4. Benet J, Oliver-Bonet M, Cifuentes P, Templado C, Navarro J. Segregation of chromosomes in sperm of reciprocal translocation carriers: a review. Cytogenet Genome Res 2005;111: 281-290.
5. Blanco J, Egozcue J, Vidal F. Incidence of chromosome 21 disomy in human spermatozoa as determined by fluorescent in-situ hybridization. Hum Reprod 1996;11: 722-726.
6. Brugnon F, Van Assche E, Verheyen G, Sion B, Boucher D, Pouly JL, Janny L, Devroey P, Liebaers I, Van Steirteghem A. Study of two markers of apoptosis and meiotic segregation in ejaculated sperm of chromosomal translocation carrier patients. Hum Reprod 2006; 21: 685-693.
7. Burgoyne PS, Mahadevaiah SK, Turner JMA. The consequences of asynapsis for mammalian meiosis. Nat Rev Genet 2009;10: 207-216.
8. Chandley AC, Speed RM, McBeath S, Hargreave TB. A human 9;20 reciprocal translocation associated with male infertility analyzed at prophase and metaphase I of meiosis. Cytogenet Cell Genet 1986; 41: 145-153.
9. Codina-Pascual M, Navarro J, Oliver-Bonet M, Kraus J, Speicher M, Arango O, Egozcue J, Benet J. Behaviour of human heterochromatic regions during the synapsis of homologous chromosomes. Hum Reprod 2006;21: 1490-1497.
10. Eaker S, Pyle A, Cobb J, Handel MA. Evidence for meiotic spindle checkpoint from analysis of spermatocytes from Robertsonianchromosome heterozygous mice. J Cell Sci 2001;114: 2953-2965.
11. Egozcue S, Blanco J, Vendrell JM, Garc F, Veiga A, Aran B, Barri PN, Vidal F, Egozcue J. Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion. Hum Reprod Update 2000;6: 93-105.
12. Eichenlaub-Ritter U, Winking H. Nondisjunction, disturbances in spindle structure, and characteristics of chromosome alignment in maturing oocytes of mice heterozygous for Robertsonian translocations. Cytogenet Cell Genet 1990;54: 47-54.
13. Eng J. Sample size estimation: how many individuals should be studied? Radiology 2003;227: 309-313.
14. Escudero T, Abdelhadi I, Sandalinas M, Munne S. Predictive value of sperm fluorescence in situ hybridization analysis on the outcome of preimplantation genetic diagnosis for translocations. Fertil Steril 2003; 79: 1528-1534.
15. Estop AM, Cieply KM, Munne S, Feingold E. Multicolor fluorescence in situ hybridization analysis of the spermatozoa of a male heterozygous for a reciprocal translocation t(11;22)(q23;q11). Hum Genet 1999; 104: 412-417.
16. 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.
17. Forejt J, Gregorova S, Goetz P. XY pair associates with the synaptonemal complex of autosomal male-sterile translocations in pachytene spermatocytes of the mouse (Mus musculus). Chromosoma 1981; 82: 41-53.
18. Gabriel-Robez O, Ratomponirina C, Dutrillaux B, Carre Pigeon F, Rumpler Y. Meiotic association between the XY chromosomes and the autosomal quadrivalent of a reciprocal translocation in two infertile men, 46,XY,t(9;22) and 46,XY,t(17;21). Cytogenet Cell Genet 1986;43: 154-160.
19. Geneix A, Schubert B, Force A, Rodet K, Briancn G, Boucher D. Sperm analysis by FISH in a case of t(17; 22) (q11; q12) balanced translocation: case report. Hum Reprod 2002;17: 325-331.
20. Gianaroli L, Magli MC, Ferraretti AP, Munne S, Balicchia B, Escudero T, Crippa A. Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod 2002;17: 3201-3207.
21. Johanisson R, Lohrs U, Wolff HH, Schwinger E. Two different XY-quadrivalent associations and impairment of fertility in men. Cytogenet Cell Genet 1987;45: 222-230.
22. Khodjakov A, Rieder CL. The nature of cell-cycle checkpoints: facts and fallacies. J Biol 2009;8: 88.2-88.5.
23. Lamb NE, Feingold E, Savage A, Avramopoulos D, Freeman S, Gu Y, Hallberg A, Hersey J, Karadima G, Pettay D et al. Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum Mol Genet 1997;6: 1391-1399.
24. Lejeune J. Autosomal disorders. Pediatrics 1963;32: 326-337.
25. Leng M, Li G, Zhong L, Hou H, Yu D, Shi Q. Abnormal synapses and recombination in an azoospermic male carrier of a reciprocal translocation t(1;21). Fertil Steril 2009;91: 1293.e17-1293.e22.
26. Ma S, Arsovska S, Moens P, Nigro M, Chow V. Analysis of early meiotic events and aneuploidy in nonobstructive azoospermic men: a preliminary report. Fertil Steril 2006;85: 646-652.
27. Manvelyan M, Hunstig F, Bhatt S, Mrasek K, Pellestor F, Weise A, Simonyan I, Aroutiounian R, Liehr T. Chromosome distribution in human sperm-a 3D multicolor banding-study. Mol Cytogenet 2008; 1: 25.
28. Martin RH. Cytogenetic determinants of male fertility. Hum Reprod Update 2008;14: 379-390.
29. Martini E, Coonen E, Hopman AHN, Ramaekers FCS, Geraedts JPM. Detection of structural abnormalities in spermatozoa of a translocation carrier t(3;11)(q27.3;q24.3) by triple FISH. Hum Genet 1998;102: 157-165.
30. Mau-Holzmann UA. Somatic chromosomal abnormalities in infertile men and women. Cytogenet Genome Res 2005;111: 317-336.
31. Mokaszki A, Ujfalusi A, Balogh E, Suegi A, Antal-Szalma P, Bazsae ZK, Molna Z, Varga A, Say T, Jakab A et al. Meiotic segregation study of a novel t(3;6)(q21;q23) in an infertile man using fluorescence in situ hybridization (FISH). Syst Biol Reprod Med 2012;58: 160-164.
32. Molina O, Sarrate Z, Vidal F, Blanco J. FISH on sperm: spot-counting to stop counting? Not yet. Fertil Steril 2009;92: 1474-80.
33. Morel F, Douet-Guilbert N, Le Bris M-J, Herry A, Amice V, Amice J, De Braekeleer M. Meiotic segregation of translocations during male gametogenesis. Int J Androl 2004;27: 200-212.
34. Morelli MA, Cohen PE. Not all germ cells are created equal: aspects of sexual dimorphism in mammalian meiosis. Reproduction 2005; 130: 761-81.
35. Murray AW. A brief history of error. Nat Cell Biol 2011;13: 1178-1182.
36. Nishikawa N, Sato T, Suzumori N, Sonta S, Suzumori K. Meiotic segregation analysis in male translocation carriers by using fluorescent in situ hybridization. Int J Androl 2008;31: 60-66.
37. Oliver-Bonet M, Benet J, Sun F, Navarro J, Abad C, Liehr T, Starke H, Greene C, Ko E, Martin RH. Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure. Hum Reprod 2005;20: 683-688.
38. Perrin A, Morel F, Douet-Guilbert N, Le Bris M-J, Amice J, Amice V, De Braekeleer M. A study of meiotic segregation of chromosomes in spermatozoa of translocation carriers using fluorescent in situ hybridisation. Andrologia 2009;42: 27-34.
39. 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.
40. Pujol A, Benet J, Staessen C, Van Assche E, Campillo M, Egozcue J, Navarro J. The importance of aneuploidy screening in reciprocal translocation carriers. Reproduction 2006;131: 1025-1035.
41. Rives N, Jarnot M, Mousset-Simen N, Joly G, Mace B. Fluorescence in situ hybridisation (FISH) analysis of chromosome segregation and interchromosomal effect in spermatozoa of a reciprocal translocation t(9,10)(q11;p11.1) carrier. J Hum Genet 2003;48: 535-540.
42. Roeder GS, Bailis JM. The pachytene checkpoint. Trends Genet 2000; 16: 395-403.
43. Sarrate Z, Anton E. Fluorescent in situ hybridization (FISH) protocol in human sperm. J Vis Exp 2009;31.
44. Sarrate Z, Vidal F, Blanco J. Role of sperm fluorescent in situ hybridization studies in infertile patients: indications, study approach, and clinical relevance. Fertil Steril 2010;93: 1892-1902.
45. Sciurano R, Rahn M, Rey-Valzacchi G, Solari AJ. The asynaptic chromatin in spermatocytes of translocation carriers contains the histone variant gamma-H2AX and associates with the XY body. Hum Reprod 2007; 22: 142-150.
46. Sciurano RB, Rahn MI, Rey-Valzacchi G, Coco R, Solari AJ. The role of asynapsis in human spermatocyte failure. Int J Androl 2011;35: 541-549.
47. 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.
48. Shi Q, Spriggs E, Field LL, Ko E, Barclay L. Single sperm typing demonstrates that reduced recombination is associated with the production of aneuploid 24,XY human sperm. Am J Med Genet 2001;38: 34-38.
49. Silva P, Barbosa J, Nascimento a V, Faria J, Reis R, Bousbaa H. Monitoring the fidelity of mitotic chromosome segregation by the spindle assembly checkpoint. Cell Proliferat 2011;44: 391-400.
50. Van Assche E, Staessen C, Vegetti W, Bonduelle M, Vandervorst M, Van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis and sperm analysis by fluorescence in-situ hybridization for the most common reciprocal translocation t(11;22). Mol Hum Reprod 1999;5: 682-690.
51. Vogt E, Kirsch-Volders M, Parry J, Eichenlaub-Ritter U. Spindle formation, chromosome segregation and the spindle checkpoint in mammalian oocytes and susceptibility to meiotic error. Mutat Res 2008;651: 14-29.
52. Vozdova M, Oracova E, Horinova V, Rubes J. Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18). Hum Reprod 2008;23: 581-588.
53. Weaver B, Cleveland DW. Does aneuploidy cause cancer. Curr Opin Cell Biol 2006;18: 658-667.
54. Wiland E, Zegało M, Kurpisz M. Interindividual differences and alterations in the topology of chromosomes in human sperm nuclei of fertile donors and carriers of reciprocal translocations. Chromosome Res 2008;16: 291-305.
55. Yu WR, Gabriel-Robez O, Croquette MF, Rigot JM, Rumpler Y. XY-quadrivalent association and sterility in a man carrier of a reciprocal autosomal translocation involving the whole arm of an acrocentric chromosome t(2;15)(q21.3;cen). Andrologia 1995;27: 145-153.