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Organization of Chromosomes in Human Sperm Nucleus

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Abstract

Chromosomes in the human sperm nucleus adopt a hierarchy of structures starting from protamine toroids, the elementary units of DNA packaging, and up to the higher-order organization of chromosome territories. Nonrandom intranuclear positioning of individual chromosomes, with centromeres aggregated in the internally located chromocenter and preferential location of telomeres at the nuclear periphery, suggests a highly defined architecture of the sperm nucleus at the level of genome. Such an ordered chromatin organization in the sperm nucleus may have a functional significance and determine the onset of paternal gene activity at early stages of embryonic development. This chapter describes relevant experimental data with primary attention to studies of human spermatozoa and discusses the implications of sperm chromosome organization for male reproductive health.

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Abbreviations

CHR:

Chromosome

CT:

Chromosome territory

FISH:

Fluorescence in situ hybridization

ICSI:

Intracytoplasmic sperm injection

MSCI:

Meiotic sex chromosome inactivation

MSUC:

Meiotic silencing of unsynapsed chromatin

WCP:

Whole chromosome painting probe

References

  • Ajduk A, Yamauchi Y, Ward MA (2006) Sperm chromatin remodeling after intracytoplasmic sperm injection differs from that of in vitro fertilization. Biol Reprod 75:442–451

    Article  CAS  PubMed  Google Scholar 

  • Allen MJ, Bradbury EM, Balhorn R (1996) The chromatin structure of well-spread demembranated human sperm nuclei revealed by atomic force microscopy. Scanning Microsc 10:989–994

    CAS  PubMed  Google Scholar 

  • Arpanahi A, Brinkworth M, Iles D, Krawetz SA, Paradowska A, Platts AE, Saida M, Steger K, Tedder P, Miller D (2009) Endonuclease-sensitive regions of human spermatozoal chromatin are highly enriched in promoter and CTCF binding sequences. Genome Res 19:1338–1349

    Article  CAS  PubMed  Google Scholar 

  • Baarends WM, Wassenaar E, Hoogerbrugge JW, Schoenmakers S, Sun ZW, Grootegoed JA (2007) Increased phosphorylation and dimethylation of XY body histones in the Hr6b-knockout mouse is associated with derepression of the X chromosome. J Cell Sci 120:1841–1851

    Article  CAS  PubMed  Google Scholar 

  • Balhorn R (1982) A model for the structure of chromatin in mammalian sperm. J Cell Biol 93:298–305

    Article  CAS  PubMed  Google Scholar 

  • Balhorn R (2007) The protamine family of sperm nuclear proteins. Genome Biol 8:227

    Article  PubMed  CAS  Google Scholar 

  • Banerjee S, Smallwood A (1995) A chromatin model of IGF2/H19 imprinting. Nat Genet 11:237–238

    Article  CAS  PubMed  Google Scholar 

  • Bickmore WA, Chubb JR (2003) Dispatch. Chromosome position: now, where was I? Curr Biol 13:R357–R359

    Article  CAS  PubMed  Google Scholar 

  • Bonduelle M, Aytoz A, Van Assche E, Devroey P, Liebaers I, Van Steirteghem A (1998) Incidence of chromosomal aberrations in children born after assisted reproduction through intracytoplasmic sperm injection. Hum Reprod 13:781–782

    Article  CAS  PubMed  Google Scholar 

  • Borden J, Manuelidis L (1988) Movement of the X chromosome in epilepsy. Science 242:1687–1691

    Article  CAS  PubMed  Google Scholar 

  • Breed WG (1994) How does sperm meet egg?—in a marsupial. Reprod Fertil Dev 6:485–506

    Article  CAS  PubMed  Google Scholar 

  • Brewer LR, Corzett M, Balhorn R (1999) Protamine-induced condensation and decondensation of the same DNA molecule. Science 286:120–123

    Article  CAS  PubMed  Google Scholar 

  • Brykczynska U, Hisano M, Erkek S, Ramos L, Oakeley EJ, Roloff TC, Beisel C, Schübeler D, Stadler MB, Peters A (2010) Repressive and active histone methylation mark distinct promoters in human and mouse spermatozoa. Nat Struct Mol Biol 17:679–687

    Article  CAS  PubMed  Google Scholar 

  • Carrell DT, Hammoud SS (2010) The human sperm epigenome and its potential role in embryonic development. Mol Hum Reprod 16:37–47

    Article  CAS  PubMed  Google Scholar 

  • Chow JC, Heard E (2010) Nuclear organization and dosage compensation. Cold Spring Harb Perspect Biol 2:a000604

    Article  CAS  PubMed  Google Scholar 

  • Churikov D, Zalenskaya IA, Zalensky AO (2004) Male germline-specific histones in mouse and man. Cytogenet Genome Res 105:203–214

    Article  CAS  PubMed  Google Scholar 

  • Cremer T, Cremer C (2001) Chromosome territories, nuclear architecture and gene regulation in mammalian cells. Nat Rev Genet 2:292–301

    Article  CAS  PubMed  Google Scholar 

  • Croft JA, Bridger JM, Boyle S, Perry P, Teague P, Bickmore WA (1999) Differences in the localization and morphology of chromosomes in the human nucleus. J Cell Biol 145:1119–1131

    Article  CAS  PubMed  Google Scholar 

  • Dolnik AV, Pochukalina GN, Parfenov VN, Karpushev AV, Podgornaya OI, Voronin AP (2007) Dynamics of satellite binding protein CENP-B and telomere binding protein TRF2/MTBP in the nuclei of mouse spermatogenic line. Cell Biol Int 31:316–329

    Article  CAS  PubMed  Google Scholar 

  • Finch KA, Fonseka KG, Abogrein A, Ioannou D, Handyside AH, Thornhill AR, Hickson N, Griffin DK (2008) Nuclear organization in human sperm: preliminary evidence for altered sex chromosome centromere position in infertile males. Hum Reprod 23:1263–1270

    Article  CAS  PubMed  Google Scholar 

  • Foster HA, Abeydeera LR, Griffin DK, Bridger JM (2005) Non-random chromosome positioning in mammalian sperm nuclei, with migration of the sex chromosomes during late spermatogenesis. J Cell Sci 118:1811–1820

    Article  CAS  PubMed  Google Scholar 

  • Fundele RH, Surani MA (1994) Experimental embryological analysis of genetic imprinting in mouse development. Dev Genet 15:515–522

    Article  CAS  PubMed  Google Scholar 

  • Garagna S, Zuccotti M, Thornhill A, Fernandez-Donoso R, Berrios S, Capanna E, Redi CA (2001) Alteration of nuclear architecture in male germ cells of chromosomally derived subfertile mice. J Cell Sci 114:4429–4434

    CAS  PubMed  Google Scholar 

  • Gardiner-Garden M, Ballesteros M, Gordon M, Tam PP (1998) Histone- and protamine-DNA association: conservation of different patterns within the beta-globin domain in human sperm. Mol Cell Biol 18:3350–3356

    CAS  PubMed  Google Scholar 

  • Gatewood JM, Cook GR, Balhorn R, Bradbury EM, Schmid CW (1987) Sequence-specific packaging of DNA in human sperm chromatin. Science 236:962–964

    Article  CAS  PubMed  Google Scholar 

  • Gatewood JM, Cook GR, Balhorn R, Schmid CW, Bradbury EM (1990) Isolation of four core histones from human sperm chromatin representing a minor subset of somatic histones. J Biol Chem 265:20662–20666

    CAS  PubMed  Google Scholar 

  • Geraedts JP, Pearson PL (1975) Spatial distribution of chromosomes 1 and Y in human spermatozoa. J Reprod Fertil 45:515–517

    Article  CAS  PubMed  Google Scholar 

  • Gineitis AA, Zalenskaya IA, Yau PM, Bradbury EM, Zalensky AO (2000) Human sperm telomere-binding complex involves histone H2B and secures telomere membrane attachment. J Cell Biol 151:1591–1598

    Article  CAS  PubMed  Google Scholar 

  • Greaves IK, Svartman M, Wakefield M, Taggart D, De Leo A, Ferguson-Smith MA, Rens W, O’Brien PC, Voullaire L, Westerman M, Graves JA (2001) Chromosomal painting detects non-random chromosome arrangement in dasyurid marsupial sperm. Chromosome Res 9:251–259

    Article  CAS  PubMed  Google Scholar 

  • Greaves IK, Rens W, Ferguson-Smith MA, Griffin D, Marshall Graves JA (2003) Conservation of chromosome arrangement and position of the X in mammalian sperm suggests functional significance. Chromosome Res 11:503–512

    Article  CAS  PubMed  Google Scholar 

  • Gurevitch M, Amiel A, Ben-Zion M, Fejgin M, Bartoov B (2001) Acrocentric centromere organization within the chromocenter of the human sperm nucleus. Mol Reprod Dev 60:507–516

    Article  CAS  PubMed  Google Scholar 

  • Haaf T, Ward DC (1995) Higher order nuclear structure in mammalian sperm revealed by in situ hybridization and extended chromatin fibers. Exp Cell Res 219:604–611

    Article  CAS  PubMed  Google Scholar 

  • Hammadeh ME, Hamad MF, Montenarh M, Fischer-Hammadeh C (2010) Protamine contents and P1/P2 ratio in human spermatozoa from smokers and non-smokers. Hum Reprod 25:2708–2720

    Article  CAS  PubMed  Google Scholar 

  • Hammoud SS, Nix DA, Zhang H, Purwar J, Carrell DT, Cairns BR (2009) Distinctive chromatin in human sperm packages genes for embryo development. Nature (Lond) 460:473–478

    CAS  Google Scholar 

  • Hammoud SS, Purwar J, Pflueger C, Cairns BR, Carrell DT (2010) Alterations in sperm DNA methylation patterns at imprinted loci in two classes of infertility. Fertil Steril 94:1728–1733

    Article  CAS  PubMed  Google Scholar 

  • Handel MA (2004) The XY body: a specialized meiotic chromatin domain. Exp Cell Res 296:57–63

    Article  CAS  PubMed  Google Scholar 

  • Hazzouri M, Rousseaux S, Mongelard F, Usson Y, Pelletier R, Faure AK, Vourc’h C, Sèle B (2000) Genome organization in the human sperm nucleus studied by FISH and confocal microscopy. Mol Reprod Dev 55:307–315

    Article  CAS  PubMed  Google Scholar 

  • Hewitson L, Dominko T, Takahashi D, Martinovich C, Ramalho-Santos J, Sutovsky P, Fanton J, Jacob D, Monteith D, Neuringer M, Battaglia D, Simerly C, Schatten G (1999) Unique checkpoints during the first cell cycle of fertilization after intracytoplasmic sperm injection in rhesus monkeys. Nat Med 5:431–433

    Article  CAS  PubMed  Google Scholar 

  • Hoyer-Fender S (2003) Molecular aspects of XY body formation. Cytogenet Genome Res 103:245–255

    Article  CAS  PubMed  Google Scholar 

  • Hoyer-Fender S, Singh PB, Motzkus D (2000) The murine heterochromatin protein M31 is associated with the chromocenter in round spermatids and is a component of mature spermatozoa. Exp Cell Res 254:72–79

    Article  CAS  PubMed  Google Scholar 

  • Hud NV, Allen MJ, Downing KH, Lee J, Balhorn R (1993) Identification of the elemental packing unit of DNA in mammalian sperm cells by atomic force microscopy. Biochem Biophys Res Commun 193:1347–1354

    Article  CAS  PubMed  Google Scholar 

  • In’t Veld P, Brandenburg H, Verhoeff A, Dhont M, Los F (1995) Sex chromosomal abnormalities and intracytoplasmic sperm injection. Lancet 346:773

    Article  PubMed  Google Scholar 

  • Iwarsson E, Malmgren H, Inzunza J, Ahrlund-Richter L, Sjoblom P, Rosenlund B, Fridtrom M, Hovatta O, Nordenskjold M, Blennow E (2000) Highly abnormal cleavage divisions in preimplantation embryo from translocations carriers. Prenat Diagn 20:1038–1047

    Article  CAS  PubMed  Google Scholar 

  • Johnson GD, Lalancette C, Linnemann AK, Leduc F, Boissonneault G, Krawetz SA (2011) The sperm nucleus: chromatin, RNA, and the nuclear matrix. Reproduction 141:21–36

    Article  CAS  PubMed  Google Scholar 

  • Jones EL, Mudrak O, Zalensky AO (2010) Kinetics of human male pronuclear development in a heterologous ICSI model. J Assist Reprod Genet 27:277–283

    Article  PubMed  Google Scholar 

  • Joshi NV, Medina H, Colasante C, Osuna A (2000) Ultrastructural investigation of human sperm using atomic force microscopy. Arch Androl 44:51–57

    Article  CAS  PubMed  Google Scholar 

  • Katayama M, Koshida M, Miyake M (2002) Fate of the acrosome in ooplasm in pigs after IVF and ICSI. Hum Reprod 17:2657–2664

    Article  CAS  PubMed  Google Scholar 

  • Kingsley K, Wirth J, van der Maarel S, Freier S, Ropers HH, Haaf T (1997) Complex FISH probes for the subtelomeric regions of all human chromosomes: comparative hybridization of CEPH YACs to chromosomes of the Old World monkey Presbytis cristata and great apes. Cytogenet Cell Genet 78:12–19

    Article  CAS  PubMed  Google Scholar 

  • Knight SJ, Flint J (2000) Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J Med Genet 37:401–409

    Article  CAS  PubMed  Google Scholar 

  • Knight SJ, Horsley SW, Regan R, Lawrie NM, Maher EJ, Cardy DL, Flint J, Kearney L (1997) Development and clinical application of an innovative fluorescence in situ hybridization technique which detects submicroscopic rearrangements involving telomeres. Eur J Hum Genet 5:1–8

    CAS  PubMed  Google Scholar 

  • Lanctôt C, Cheutin T, Cremer M, Cavalli G, Cremer T (2007) Dynamic genome architecture in the nuclear space: regulation of gene expression in three dimensions. Nat Rev Genet 8:104–115

    Article  PubMed  CAS  Google Scholar 

  • Lee JT (2010) The X as model for RNA’s niche in epigenomic regulation. Cold Spring Harb Perspect Biol 2:a003749

    Article  PubMed  CAS  Google Scholar 

  • Leitch AR (2000) Higher levels of organization in the interphase nucleus of cycling and differentiated cells. Microbiol Mol Biol Rev 64:138–152

    Article  CAS  PubMed  Google Scholar 

  • Li Z, Yang J, Huang H (2006) Oxidative stress induces H2AX phosphorylation in human spermatozoa. FEBS Lett 580:6161–6168

    Article  CAS  PubMed  Google Scholar 

  • Liebaers I, Bonduelle M, Van Assche E, Devroey P, Van Steirteghem A (1995) Sex chromosome abnormalities after intracytoplasmic sperm injection. Lancet 346:1095

    Article  CAS  PubMed  Google Scholar 

  • Luetjens CM, Payne C, Schatten G (1999) Non-random chromosome positioning in human sperm and sex chromosome anomalies following intracytoplasmic sperm injection. Lancet 353:1240

    Article  CAS  PubMed  Google Scholar 

  • Mahadevaiah SK, Turner JM, Baudat F, Rogakou EP, de Boer P, Blanco-Rodriguez J, Jasin M, Keeney S, Bonner WM, Burgoyne PS (2001) Recombinational DNA double-strand breaks in mice precede synapsis. Nat Genet 27:271–276

    Article  CAS  PubMed  Google Scholar 

  • Manvelyan M, Hunstig F, Bhatt S, Mrasek K, Pellestor F, Weise A, Simonyan I, Aroutiounian R, Liehr T (2008) Chromosome distribution in human sperm—a 3D multicolor banding-study. Mol Cytogenet 1:25

    Article  PubMed  CAS  Google Scholar 

  • Mayer W, Smith A, Fundele R, Haaf T (2000) Spatial separation of parental genomes in preimplantation mouse embryos. J Cell Biol 148:629–634

    Article  CAS  PubMed  Google Scholar 

  • McCarrey JR, Watson C, Atencio J, Ostermeier GC, Marahrens Y, Jaenisch R, Krawetz SA (2002) X-chromosome inactivation during spermatogenesis is regulated by an Xist/Tsix-independent mechanism in the mouse. Genesis 34:257–266

    Article  CAS  PubMed  Google Scholar 

  • Meaburn KJ, Levy N, Toniolo D, Bridger JM (2005) Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations. Biochem Soc Trans 33:1438–1440

    Article  CAS  PubMed  Google Scholar 

  • Meister P, Mango SE, Gasser SM (2011) Locking the genome: nuclear organization and cell fate. Curr Opin Genet Dev 21:167–174

    Article  CAS  PubMed  Google Scholar 

  • Meistrich ML, Mohapatra B, Shirley CR, Zhao M (2003) Roles of transition nuclear proteins in spermiogenesis. Chromosoma (Berl) 111:483–488

    Article  Google Scholar 

  • Meyer-Ficca M, Muller-Navia J, Scherthan H (1998) 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 111:1363–1370

    CAS  PubMed  Google Scholar 

  • Miller D, Brinkworth M, Iles D (2010) Paternal DNA packaging in spermatozoa: more than the sum of its parts? DNA, histones, protamines and epigenetics. Reproduction 139:287–301

    Article  CAS  PubMed  Google Scholar 

  • Misteli T (2004) Spatial positioning: a new dimension in genome function. Cell 119:153–156

    Article  CAS  PubMed  Google Scholar 

  • Misteli T (2007) Beyond the sequence: cellular organization of genome function. Cell 128:787–800

    Article  CAS  PubMed  Google Scholar 

  • Mudrak OS, Nazarov IB, Jones EL, Zalensky AO (2012) Positioning of chromosomes in human spermatozoa is determined by ordered centromere arrangement. PLoS ONE 7: e52944

    Article  CAS  PubMed  Google Scholar 

  • Mudrak O, Tomilin N, Zalensky A (2005) Chromosome architecture in the decondensing human sperm nucleus. J Cell Sci 118:4541–4550

    Article  CAS  PubMed  Google Scholar 

  • Mudrak O, Zalenskaya I, Zalensky O (2011) Organization of chromosomes during spermatogenesis and in mature sperm. In: Rousseaux S, Khochbin S (eds) Epigenetics and human reproduction, 1st edn. Springer, Berlin

    Google Scholar 

  • Nagele RG, Freeman T, McMorrow L, Thomson Z, Kitson-Wind K, Lee H (1999) Chromosomes exhibit preferential positioning in nuclei of quiescent human cells. J Cell Sci 112:525–535

    CAS  PubMed  Google Scholar 

  • Namekawa SH, Park PJ, Zhang LF, Shima JE, McCarrey JR, Griswold MD, Lee JT (2006) Postmeiotic sex chromatin in the male germline of mice. Curr Biol 16:660–667

    Article  CAS  PubMed  Google Scholar 

  • Namekawa SH, VandeBerg JL, McCarrey JR, Lee JT (2007) Sex chromosome silencing in the marsupial male germ line. Proc Natl Acad Sci USA 104:9730–9735

    Article  CAS  PubMed  Google Scholar 

  • Nanassy L, Liu L, Griffin J, Carrell DT (2011) The clinical utility of the protamine 1/protamine 2 ratio in sperm. Protein Pept Lett 18:772–777

    Article  CAS  PubMed  Google Scholar 

  • Nazarov IB, Shlyakhtenko LS, Lyubchenko YL, Zalenskaya IA, Zalensky AO (2008) Sperm chromatin released by nucleases. Syst Biol Reprod Med 54:37–46

    Article  CAS  PubMed  Google Scholar 

  • Olszewska M, Wiland E, Kurpisz M (2008) Positioning of chromosome 15, 18, X and Y centromeres in sperm cells of fertile individuals and infertile patients with increased level of aneuploidy. Chromosome Res 16:875–890

    Article  CAS  PubMed  Google Scholar 

  • Pai DA, Engelke DR (2010) Spatial organization of genes as a component of regulated expression. Chromosoma (Berl) 119:13–25

    Article  CAS  Google Scholar 

  • Parada LA, Sotiriou S, Misteli T (2004) Spatial genome organization. Exp Cell Res 296:64–70

    Article  CAS  PubMed  Google Scholar 

  • Pittoggi C, Renzi L, Zaccagnini G, Cimini D, Degrassi F, Giordano R, Magnano AR, Lorenzini R, Lavia P, Spadafora C (1999) A fraction of mouse sperm chromatin is organized in nucleosomal hypersensitive domains enriched in retroposon DNA. J Cell Sci 112:3537–3548

    CAS  PubMed  Google Scholar 

  • Powell D, Cran DG, Jennings C, Jones R (1990) Spatial organization of repetitive DNA sequences 500 in the bovine sperm nucleus. J Cell Sci 97:185–191

    CAS  PubMed  Google Scholar 

  • Ramalho-Santos J, Sutovsky P, Simerly C, Oko R, Wessel GM, Hewitson L, Schatten G (2000) ICSI choreography: fate of sperm structures after monospermic rhesus ICSI and first cell cycle implications. Hum Reprod 15:2610–2620

    Article  CAS  PubMed  Google Scholar 

  • Ryu HM, Lin WW, Lamb DJ, Chuang W, Lipshultz LI, Bischoff FZ (2001) Increased chromosome X, Y, and 18 nondisjunction in sperm from infertile patients that were identified as normal by strict morphology: implication for intracytoplasmic sperm injection. Fertil Steril 76:879–883

    Article  CAS  PubMed  Google Scholar 

  • Sbracia M, Baldi M, Cao D, Sandrelli A, Chiandetti A, Poverini R, Aragona C (2002) Preferential location of sex chromosomes, their aneuploidy in human sperm, and their role in determining sex chromosome aneuploidy in embryos after ICSI. Hum Reprod 17:320–324

    Article  CAS  PubMed  Google Scholar 

  • Schneider R, Grosschedl R (2007) Dynamics and interplay of nuclear architecture, genome organization, and gene expression. Genes Dev 21:3027–3043

    Article  CAS  PubMed  Google Scholar 

  • Shi Q, Martin RH (2001) Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosomal abnormalities, and in infertile men. Reproduction 121:655–666

    Article  CAS  PubMed  Google Scholar 

  • Simon L, Castillo J, Oliva R, Lewis SE (2011) Relationships between human sperm protamines, DNA damage and assisted reproduction outcomes. Reprod Biomed Online 23:724–734

    Article  CAS  PubMed  Google Scholar 

  • Singleton S, Mudrak O, Morshedi M, Oehninger S, Zalenskaya I, Zalensky A (2007) Characterisation of a human sperm cell subpopulation marked by the presence of the TSH2B histone. Reprod Fertil Dev 19:392–397

    Article  CAS  PubMed  Google Scholar 

  • Solov’eva L, Svetlova M, Bodinski D, Zalensky AO (2004) Nature of telomere dimers and chromosome looping in human spermatozoa. Chromosome Res 12:817–823

    Article  PubMed  CAS  Google Scholar 

  • Sotolongo B, Huang TT, Isenberger E, Ward WS (2005) An endogenous nuclease in hamster, mouse, and human spermatozoa cleaves DNA into loop-sized fragments. J Androl 26:272–280

    CAS  PubMed  Google Scholar 

  • Sun HB, Yokota H (1999) Correlated positioning of homologous chromosomes in daughter fibroblast cells. Chromosome Res 7:603–610

    Article  CAS  PubMed  Google Scholar 

  • Sutovsky P, Hewitson L, Simerly CR, Tengowski MW, Navara CS, Haavisto A, Schatten G (1996) 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 11:1703–1712

    Article  CAS  PubMed  Google Scholar 

  • Tempest HG, Griffin DK (2004) The relationship between male infertility and increased levels of sperm disomy. Cytogenet Genome Res 107:83–94

    Article  CAS  PubMed  Google Scholar 

  • Terada Y, Luetjens CM, Sutovsky P, Schatten G (2000) 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 74:454–460

    Article  CAS  PubMed  Google Scholar 

  • Tilgen N, Guttenbach M, Schmid M (2001) 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 265:283–287

    Article  CAS  PubMed  Google Scholar 

  • Tsend-Ayush E, Dodge N, Mohr J, Casey A, Himmelbauer H, Kremitzki CL, Schatzkamer K, Graves T, Warren WC, Grützner F (2009) Higher-order genome organization in platypus and chicken sperm and repositioning of sex chromosomes during mammalian evolution. Chromosoma (Berl) 118:53–69

    Article  Google Scholar 

  • Tunc O, Thompson J, Tremellen K (2009) Improvement in sperm DNA quality using an oral antioxidant therapy. Reprod Biomed Online 18:761–768

    Article  CAS  PubMed  Google Scholar 

  • Turner JM (2007) Meiotic sex chromosome inactivation. Development (Camb) 134:1823–1831

    Article  CAS  Google Scholar 

  • Turner JM, Mahadevaiah SK, Elliott DJ, Garchon HJ, Pehrson JR, Jaenisch R, Burgoyne PS (2002) Meiotic sex chromosome inactivation in male mice with targeted disruptions of Xist. J Cell Sci 115:4097–4105

    Article  CAS  PubMed  Google Scholar 

  • van der Heijden GW, Ramos L, Baart EB, van den Berg IM, Derijck AA, van der Vlag J, Martini E, de Boer P (2008) Sperm-derived histones contribute to zygotic chromatin in humans. BMC Dev Biol 8:34

    Article  PubMed  CAS  Google Scholar 

  • Ward WS (2010) Function of sperm chromatin structural elements in fertilization and development. Mol Hum Reprod 16:30–36

    Article  CAS  PubMed  Google Scholar 

  • Ward MA, Ward WS (2004) A model for the function of sperm DNA degradation. Reprod Fertil Dev 16:547–554

    Article  CAS  PubMed  Google Scholar 

  • Watson JM, Meyne J, Graves JA (1996) Ordered tandem arrangement of chromosomes in the sperm heads of monotreme mammals. Proc Natl Acad Sci USA 93:10200–10205

    Article  CAS  PubMed  Google Scholar 

  • Wiland E, Zegalo M, Kurpisz M (2008) Interindividual differences and alterations in the topology of chromosomes in human sperm nuclei of fertile donors and carriers of reciprocal translocations. Chromosome Res 16:291–305

    Article  CAS  PubMed  Google Scholar 

  • Wykes SM, Krawetz SA (2003) The structural organization of sperm chromatin. J Biol Chem 278:29471–29477

    Article  CAS  PubMed  Google Scholar 

  • Zalenskaya IA, Zalensky AO (2004) Non-random positioning of chromosomes in human sperm nuclei. Chromosome Res 12:163–173

    Article  CAS  PubMed  Google Scholar 

  • Zalenskaya IA, Bradbury EM, Zalensky AO (2000) Chromatin structure of telomere domain in human sperm. Biochem Biophys Res Commun 279:213–218

    Article  CAS  PubMed  Google Scholar 

  • Zalensky A, Zalenskaya I (2007) Organization of chromosomes in spermatozoa: an additional layer of epigenetic information? Biochem Soc Trans 35:609–611

    Article  CAS  PubMed  Google Scholar 

  • Zalensky AO, Breneman JW, Zalenskaya IA, Brinkley BR, Bradbury EM (1993) Organization of centromeres in the decondensed nuclei of mature human sperm. Chromosoma (Berl) 102:509–518

    Article  CAS  Google Scholar 

  • Zalensky AO, Allen MJ, Kobayashi A, Zalenskaya IA, Balhorn R, Bradbury EM (1995) Well-defined genome architecture in the human sperm nucleus. Chromosoma (Berl) 103:577–590

    Article  CAS  Google Scholar 

  • Zalensky AO, Tomilin NV, Zalenskaya IA, Teplitz RL, Bradbury EM (1997) Telomere–telomere interactions and candidate telomere binding protein(s) in mammalian sperm cells. Exp Cell Res 232:29–41

    Article  CAS  PubMed  Google Scholar 

  • Zalensky AO, Siino JS, Gineitis AA, Zalenskaya IA, Tomilin NV, Yau P, Bradbury EM (2002) Human testis/sperm-specific histone H2B (hTSH2B). Molecular cloning and characterization. J Biol Chem 277:43474–43480

    Article  CAS  PubMed  Google Scholar 

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Acknowledgments

The authors thank Dr. Maria Svetlova for her valuable comments on the manuscript. This work was supported by RFBR grant 12-04-01489-a.

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Correspondence to Olga S. Mudrak .

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Mudrak, O.S., Solovjeva, L.V., Chagin, V.O. (2013). Organization of Chromosomes in Human Sperm Nucleus. In: Yurov, Y., Vorsanova, S., Iourov, I. (eds) Human Interphase Chromosomes. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6558-4_8

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