Genome architecture in human sperm cells: Possible implications for male infertility and prediction of pregnancy outcome

Male Infertility: Diagnosis and Treatment

Volumn , Issue , 2007, Pages 73-83

  Mudrak, Olga ^a,b   Zalensky, Andrei ^a,b  

^a The Jones Institute for Reproductive Medicine   (United States)

^b INSTITUTE OF CYTOLOGY   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 78649299948     PISSN: None     EISSN: None     Source Type: Book    
DOI: None     Document Type: Chapter

References (88)

1. McFadden DE, Friedman JM. Chromosome abnormalities in human beings. Mutat Res 1997; 396: 129
2. Sloter E, et al. Effects of male age on the frequencies of germinal and heritable chromosomal abnormalities in humans and rodents. Fertil Steril 2004; 81: 925
3. Perreault SD, et al. Integrating new tests of sperm genetic integrity into semen analysis: breakout group discussion. Adv Exp Med Biol 2003; 518: 253
4. Chandley AC. On the parental origin of de novo mutation in man. J Med Gene 1991; 28: 217
5. Shi Q, Martin RH. Aneuploidy in human spermatozoa: ISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction 2001; 121: 655
6. Egozcue J, et al. Genetic analysis of sperm and implications of severe male infertility. Placenta 2003; 24: 62
7. Tempest HG, Griffin DK. The relationship between male infertility and increased levels of sperm disomy. Cytogenet Genome Res 2004; 107: 83
8. Schmidt E, et al. Detection of structural and numerical chromosomal abnormalities by ACM-FISH analysis in sperm of oligozoospermic infertility patients. Hum Reprod 2004; 19: 1395
9. Petit FM, et al. Could sperm aneuploidy rate determination be used as a predictive test before intracytoplasmic sperm injection? J Androl 2005; 26: 235
10. Foresta C, et al. Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection. J Clin Endocrinol Metab 2005; 90: 152
11. Pang MG, et al. The high incidence of meiotic errors increases with decreased sperm count in severe male factor infertilities. Mol Vis 2005; 11: 152
12. Rabl C. Ueber Zelltheilung [On cell division]. Morphol Jahrbuch 1895; 10: 214
13. Boveri T. Die blastomerenkerne von Ascaris megalocephala und die Theorie der Chromosomenindividualitat [The blastomere nucleus of Ascaris megalocephala and the theory of chromosome individuality on cell division]. Arch Zellforsch 1909; 3: 181
14. Marshall WF. Order and disorder in the nucleus. Curr Biol 2002; 12: 185
15. Taddei A, et al. The function of nuclear architecture: genetic approach. Annu Rev Genet 2004; 38: 305
16. Cremer T, et al. Higher order chromatin architecture in the cell nucleus: on the way from structure to function. Biol Cell 2004; 96: 555
17. Cremer T, Cremer C. Chromosome territories, nuclear architecture and gene regulation in mammalian cells. Nat Rev Genet 2001; 2: 292
18. Zalensky AO. Genome architecture. In Verma RS, ed. Advances in Genome Biology. Greenwich, London: AI Press, 1998: 179
19. Cremer M, et al. Inheritance of gene density-related higher order chromatin arrangements in normal and tumor cell nuclei. J Cell Biol 2003; 162: 809
20. Cremer M, et al. Non-random radial higher-order chromatin arrangements in nuclei of diploid human cells. Chromosome Res 2001; 9: 541
21. Parada L, Misteli T. Chromosome positioning in the interphase nucleus. Trends Cell Biol 2002; 12: 425
22. Kozubek S, et al. 3D structure of the human genome: order in randomness. Chromosoma 2002; 111: 321
23. Boyle S, et al. The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells. Hum Mol Genet 2001; 10: 211
24. Croft JA, et al. Differences in the localization and morphology of chromosomes in the human nucleus. J Cell Biol 1999; 145: 1119
25. Parada LA, et al. Conservation of relative chromosome positioning in normal and cancer cells. Curr Biol 2002; 12: 1692
26. Leitch A, et al. The spatial localization of homologous chromosomes in human fibroblasts at mitosis. Hum Genet 1994; 93: 275
27. Nagele R, et al. Precise spatial positioning of chromosomes during prometaphase: evidence for chromosome order. Science 1995; 270: 1831
28. Allison DC, Nestor AL. Evidence for a relatively random array of human chromosomes on the mitotic ring. J Cell Biol 1999; 145: 1
29. Manuelidis L. Indications of centromere movement during interphase and differentiation. Ann NY Acad Sci 1985; 450: 205
30. Neves H, et al. The nuclear topography of ABL, BCR, PML, and RAR alpha genes: evidence for gene proximity in specific phases of the cell cycle and stages of hematopoietic differentiation. Blood 1999; 93: 1197
31. Bridger JM, et al. Re-modelling of nuclear architecture in quiescent and senescent human fibroblasts. Curr Biol 2000; 10: 149
32. Sadoni N, et al. Nuclear organization of mammalian genomes. Polar chromosome territories build up functionally distinct higher order compartments. J Cell Biol 1999; 146: 1211
33. Stadler S, et al. The architecture of chicken chromosome territories changes during differentiation. BMC Cell Biol 2004; 5: 44
34. Parada LA, et al. Tissue-specific spatial organization of genomes. Genome Biol 2004; 5: R44
35. Meistrich M. Histone and basic nuclear protein transitions in mammalian spermatogenesis. In Hnilica LS, Stein GS, Stein JL, eds. Histones and Other Basic Nuclear Proteins. Boca Raton, FL: CRC Press, 1989: 65
36. Churikov D, et al. Male germline-specific histones in mouse and man. Cytogenet Genome Res 2004; 105: 03
37. Balhorn R. A model for the structure of chromatin in mammalian sperm. J Cell Biol 1982; 93: 298
38. Ward WS, Zalensky AO. The unique, complex organization of the transcriptionally silent sperm chromatin. Crit Rev Eukaryot Gene Expr 1996; 6: 39
39. Brandriff BF, Gordon LA. Spatial distribution of sperm-derived chromatin in zygotes determined by fluorescence in situ hybridization. Mutat Res 1992; 296: 33
40. Haaf T, Ward DC. Higher order nuclear structure in mammalian sperm revealed by in situ hybridization and extended chromatin fibers. Exp Cell Res 1995; 219: 604
41. Zalensky AO, et al. Well-defined genome architecture in the human sperm nucleus. Chromosoma 1995; 103: 577
42. Geraedts JP, Pearson PL. Spatial distribution of chromosomes 1 and Y in human spermatozoa. J Reprod Fertil 1975; 45: 515
43. Luetjens CM, et al. Non-random chromosome positioning in human sperm and sex chromosome anomalies following intracytoplasmic sperm injection. Lancet 1999; 353: 1240
44. Hazzouri M, et al. Genome organization in the human sperm nucleus studied by FISH and confocal microscopy. Mol Reprod Dev 2000; 55: 307
45. Tilgen N, et al. Heterochromatin is not an adequate explanation for close proximity of interphase chromosomes 1-Y, 9-Y, and 16-Y in human spermatozoa. Exp Cell Res 2001; 265: 283
46. Zalenskaya IA, Zalensky AO. Non-random positioning of chromosomes in human sperm nuclei. Chromosome Res 2004; 12: 163
47. Zalensky AO, et al. Organization of centromeres in the decondensed nuclei of mature human sperm. Chromosoma 1993; 102: 509
48. Hoyer-Fender S, et al. The murine heterochromatin protein M31 is associated with the chromocenter in round spermatids and is a component of mature spermatozoa. Exp Cell Res 2000; 254: 72
49. Zalensky AO, et al. Telomere-telomere interactions and candidate telomere binding protein(s) in mammalian sperm cells. Exp Cell Res 1997; 232: 29
50. Meyer-Ficca M, et al. Clustering of pericentromeres initiates in step 9 of spermiogenesis of the rat (Rattus norvegicus) and contributes to a well defined genome architecture in the sperm nucleus. J Cell Sci 1998; 111: 1363
51. Solov’eva L, et al. Nature of telomere dimers and chromosome looping in human spermatozoa. Chromosome Res 2004; 12: 817
52. Mudrak OS, et al. Chromosome architecture in the human sperm nucleus. J Cell Sci 2005; 118: 4541
53. Wyrobek AJ. Methods and concepts in detecting abnormal reproductive outcomes of paternal origin. Reprod Toxicol 1993; 7: 3
54. Sloter ED, et al. Multicolor FISH analysis of chromosomal breaks, duplications, deletions, and numerical abnormalities in the sperm of healthy men. Am J Hum Genet 2000; 67: 862
55. Fung J, et al. Detection of structural and numerical chromosome abnormalities in interphase cells using spectral imaging. J Histochem Cytochem 2001; 49: 97
56. Plachot M. Genetic analysis of the oocyte -a review. Placenta 2003; 24: 66
57. Evenson DP, et al. Sperm chromatin structure assay: ts clinical use for detecting sperm DNA fragmentation in male infertility and comparisons with other techniques. J Androl 2002; 23: 25
58. Virro MR, et al. Sperm chromatin structure assay (SCSA) parameters are related to fertilization, blastocyst development, and ongoing pregnancy in in vitro fertilization and intracytoplasmic sperm injection cycles. Fertil Steril 2004; 81: 1289
59. Bench G, et al. Protein and DNA contents in sperm from an infertile human male possessing protamine defects that vary over time. Mol Reprod Dev 1998; 50: 345
60. De Yebra L, et al. Complete selective absence of protamine P2 in humans. J Biol Chem 1993; 268: 10553
61. Francavilla S, et al. Chromatin defects in normal and malformed human ejaculated and epididymal spermatozoa: cytochemical ultrastructural study. J Reprod Fertil 1996; 106: 259
62. Francavilla S, et al. Ultrastructural analysis of chromatin defects in testicular spermatids in azoospermic men submitted to TESE-ICSI. Hum Reprod 2001; 16: 1440
63. Sakkas D, et al. Sperm nuclear DNA damage and altered chromatin structure: effect on fertilization and embryo development. Hum Reprod 1998; 13: 11
64. Bianchi PG, et al. Chromatin packaging and morphology in ejaculated human spermatozoa: evidence of hidden anomalies in normal spermatozoa. Mol Hum Reprod 1996; 2: 139
65. Gineitis AA, et al. Histone H2B variant is a part of the telomere-binding complex that secures telomere membrane attachment in human sperm. J Cell Biol 2000; 151: 1591
66. Hall JG. Genomic imprinting: nature and clinical relevance. Annu Rev Med 1997; 48: 35
67. McLay DW, Clarke HJ. Remodelling the paternal chromatin at fertilization in mammals. Reproduction 2003; 125: 625
68. Wright SJ. Sperm nuclear activation during fertilization. Curr Top Dev Biol 1999; 46: 133
69. Sutovsky P, Schatten G. Paternal contributions to the mammalian zygote: fertilization after sperm-egg fusion. Int Rev Cytol 2000; 5: 1
70. Burns KH, et al. Roles of NPM2 in chromatin and nucleolar organization in oocytes and embryos. Science 2003; 300: 633
71. Gilbert N, et al. Chromatin organization in the mammalian nucleus. Int Rev Cytol 2005; 242: 283
72. Bouniol-Baly C, et al. Dynamic organization of DNA replication in one-cell mouse embryos: relationship to transcriptional activation. Exp Cell Res 1997; 236: 01
73. Aoki F, et al. Regulation of transcriptional activity during the first and second cell cycles in the preimplantation mouse embryo. Dev Biol 1997; 181: 296
74. Capco DG. Molecular and biochemical regulation of early mammalian development. Int Rev Cytol 2001; 207: 195
75. Mayer W, et al. Spatial separation of parental genomes in preimplantation mouse embryos. J Cell Biol 2000; 148: 629
76. Greaves IK, et al. Conservation of chromosome arrangement and position of the X in mammalian sperm suggests functional significance. Chromosome Res 2003; 11: 503
77. Kirsch JAW, et al. DNA-hybridisation studies of marsupials and their implications for metatherian classification. Aust J Zool 1997; 45: 211
78. Schatten G, et al. Cell and molecular biological challenges of ICSI: ART before science? J Law Med Ethics 1998; 26: 29
79. Bonduelle M, et al. Seven years of intracytoplasmic sperm injection and follow-up of 1987 subsequent children. Hum Reprod 1999; 14: 243
80. Sutovsky P, et al. Intracytoplasmic sperm injection for rhesus monkey fertilization results in unusual chromatin, cytoskeletal, and membrane events, but eventually leads to pronuclear development and sperm aster assembly. Hum Reprod 1996; 11: 1703
81. Hewitson L, et al. Unique checkpoints during the first cell cycle of fertilization after intracytoplasmic sperm injection in rhesus monkeys. Nat Med 1999; 5: 431
82. Terada Y, et al. Atypical decondensation of the sperm nucleus, delayed replication of the male genome, and sex chromosome positioning following intracytoplasmic human sperm injection (ICSI) into golden hamster eggs: does ICSI itself introduce chromosomal anomalies? Fertil Steril 2000; 74: 454
83. Zalenskaya IA, Bradbury EM, Zalensky AO. Chromatin structure of telomere domain in human sperm. Biochem Biophys Res Commun 2000; 279: 213
84. Bekaert S, et al. Telomere biology in mammalian germ cells and during development. Dev Biol 2004; 274: 15
85. Kozik A, et al. Identification and characterization of a bovine sperm protein that binds specifically to single-stranded telomeric deoxyribonucleic acid. Biol Reprod 2000; 62: 340
86. Kim NW, et al. Specific association of human telomerase activity with immortal cells and cancer. Science 1994; 266: 2011
87. Achi MV, et al. Telomere length in male germ cells is inversely correlated with telomerase activity. Biol Reprod 2000; 63: 591
88. Liu L, et al. An essential role for functional telomeres in mouse germ cells during fertilization and early development. Dev Biol 2002; 249: 74