Nuclear envelope: Connecting structural genome organization to regulation of gene expression

Advances in Experimental Medicine and Biology

Volumn 773, Issue , 2014, Pages 209-244

  Stancheva, Irina ^a   Schirmer, Eric C ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Cancer; Chromatin; Epigenetics; Gene expression; Insulator; NPC; Nuclear envelope; Nuclear lamina

Indexed keywords

BARRIER TO AUTOINTEGRATION FACTOR; EMERIN; HISTONE H3; LAMIN A; MEMBRANE PROTEIN; MESSENGER RNA; NUCLEAR ENVELOPE TRANSMEMBRANE PROTEIN; NUCLEOPORIN 98; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR E2F; TRANSCRIPTION FACTOR HOXA9; UNCLASSIFIED DRUG;

ACUTE GRANULOCYTIC LEUKEMIA; ADVANCED CANCER; ARTICLE; CANCER PROGNOSIS; CELL NUCLEUS; CELL NUCLEUS MEMBRANE; CENTROMERE; CHROMATIN ASSEMBLY AND DISASSEMBLY; CHROMATIN STRUCTURE; CHROMOSOME STRUCTURE; COLORECTAL CANCER; DNA METHYLATION; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENE ACTIVITY; GENE CONTROL; GENE EXPRESSION REGULATION; GENE LOCUS; GENE MUTATION; GENE REPRESSION; GENOME ANALYSIS; GENOMIC INSTABILITY; HETEROCHROMATIN; HISTONE ACETYLATION; HISTONE METHYLATION; HUMAN; NONHUMAN; NUCLEAR LAMINA; NUCLEAR PORE COMPLEX; PRIORITY JOURNAL; PROGERIA; TELOMERE; TRANSCRIPTION INITIATION; TUMOR CELL;

GENE EXPRESSION REGULATION; GENOME; HUMANS; NUCLEAR ENVELOPE;

EID: 84934440015     PISSN: 00652598     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4899-8032-8_10     Document Type: Article

References (214)

1. Callan HG, Tomlin SG (1950) Experimental studies on amphibian oocyte nuclei. I. Investigation of the structure of the nuclear membrane by means of the electron microscope. Proc R Soc Lond B Biol Sci 137(888):367-378
2. Tapley EC, Starr DA (2013) Connecting the nucleus to the cytoskeleton by SUN-KASH bridges across the nuclear envelope. Curr Opin Cell Biol 25(1):57-62, doi:S0955-0674(12)00177-9 [pii] 10.1016/j.ceb.2012.10.014
3. Suntharalingam M, Wente SR (2003) Peering through the pore: nuclear pore complex structure, assembly, and function. Dev Cell 4(6):775-789
4. Dechat T, Pfl eghaar K, Sengupta K, Shimi T, Shumaker DK, Solimando L, Goldman RD (2008) Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin. Genes Dev 22(7):832-853
5. Stuurman N, Heins S, Aebi U (1998) Nuclear lamins: their structure, assembly, and interactions. J Struct Biol 122(1-2):42-66
6. Schirmer EC, Foisner R (2007) Proteins that associate with lamins: many faces, many functions. Exp Cell Res 313(10):2167-2179
7. Mattout-Drubezki A, Gruenbaum Y (2003) Dynamic interactions of nuclear lamina proteins with chromatin and transcriptional machinery. Cell Mol Life Sci 60(10):2053-2063
8. Brown CR, Kennedy CJ, Delmar VA, Forbes DJ, Silver PA (2008) Global histone acetylation induces functional genomic reorganization at mammalian nuclear pore complexes. Genes Dev 22:627-639
9. Makatsori D, Kourmouli N, Polioudaki H, Shultz LD, McLean K, Theodoropoulos PA, Singh PB, Georgatos SD (2004) The inner nuclear membrane protein lamin B receptor forms distinct microdomains and links epigenetically marked chromatin to the nuclear envelope. J Biol Chem 279(24):25567-25573
10. Ye Q, Worman HJ (1996) Interaction between an integral protein of the nuclear envelope inner membrane and human chromodomain proteins homologous to Drosophila HP1. J Biol Chem 271(25):14653-14656
11. Solovei I, Wang AS, Thanisch K, Schmidt CS, Krebs S, Zwerger M, Cohen TV, Devys D, Foisner R, Peichl L, Herrmann H, Blum H, Engelkamp D, Stewart CL, Leonhardt H, Joffe B (2013) LBR and Lamin A/C sequentially tether peripheral heterochromatin and inversely regulate differentiation. Cell 152(3):584-598, doi:S0092-8674(13)00012-3 [pii] 10.1016/j. cell.2013.01.009
12. Zullo JM, Demarco IA, Pique-Regi R, Gaffney DJ, Epstein CB, Spooner CJ, Luperchio TR, Bernstein BE, Pritchard JK, Reddy KL, Singh H (2012) DNA sequence-dependent compartmentalization and silencing of chromatin at the nuclear lamina. Cell 149(7):1474-1487, doi:S0092-8674(12)00591-0 [pii] 10.1016/j.cell.2012.04.035
13. Cronshaw J, Krutchinsky A, Zhang W, Chait B, Matunis M (2002) Proteomic analysis of the mammalian nuclear pore complex. J Cell Biol 158(5):915-927
14. Dreger M, Bengtsson L, Schoneberg T, Otto H, Hucho F (2001) Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane. Proc Natl Acad Sci USA 98(21):11943-11948
15. Rout MP, Aitchison JD, Suprapto A, Hjertaas K, Zhao Y, Chait BT (2000) The yeast nuclear pore complex: composition, architecture, and transport mechanism. J Cell Biol 148(4):635-651
16. Schirmer EC, Florens L, Guan T, Yates JR 3rd, Gerace L (2003) Nuclear membrane proteins with potential disease links found by subtractive proteomics. Science 301(5638):1380-1382
17. Korfali N, Wilkie GS, Swanson SK, Srsen V, Batrakou DG, Fairley EA, Malik P, Zuleger N, Goncharevich A, de Las Heras J, Kelly DA, Kerr AR, Florens L, Schirmer EC (2010) The leukocyte nuclear envelope proteome varies with cell activation and contains novel transmembrane proteins that affect genome architecture. Mol Cell Proteomics 9(12):2571-2585, doi:M110.002915 [pii] 10.1074/mcp.M110.002915
18. Korfali N, Wilkie GS, Swanson SK, Srsen V, de Las Heras J, Batrakou DG, Malik P, Zuleger N, Kerr AR, Florens L, Schirmer EC (2012) The nuclear envelope proteome differs notably between tissues. Nucleus 3(6):552-564, doi:22257 [pii] 10.4161/nucl.22257
19. Wilkie GS, Korfali N, Swanson SK, Malik P, Srsen V, Batrakou DG, de Las Heras J, Zuleger N, Kerr AR, Florens L, Schirmer EC (2011) Several novel nuclear envelope transmembrane proteins identifi ed in skeletal muscle have cytoskeletal associations. Mol Cell Proteomics 10(1):M110.003129, doi:M110.003129 [pii] 10.1074/mcp.M110.003129
20. Zuleger N, Boyle S, Kelly DA, de Las Heras JI, Lazou V, Korfali N, Batrakou DG, Randles KN, Morris GE, Harrison DJ, Bickmore WA, Schirmer EC (2013) Specifi c nuclear envelope transmembrane proteins can promote the location of chromosomes to and from the nuclear periphery. Genome Biol 14(2):R14, doi:gb-2013-14-2-r14 [pii] 10.1186/gb-2013-14-2-r14
21. Fawcett DW (1981) The cell. Saunders, Philadelphia
22. Paddy MR, Belmont AS, Saumweber H, Agard DA, Sedat JW (1990) Interphase nuclear envelope lamins form a discontinuous network that interacts with only a fraction of the chromatin in the nuclear periphery. Cell 62(1):89-106
23. Belmont AS, Zhai Y, Thilenius A (1993) Lamin B distribution and association with peripheral chromatin revealed by optical sectioning and electron microscopy tomography. J Cell Biol 123(6 Pt 2):1671-1685
24. Bouvier D, Hubert J, Seve AP, Bouteille M (1985) Characterization of lamina-bound chromatin in the nuclear shell isolated from HeLa cells. Exp Cell Res 156(2):500-512
25. Mirsky AE, Allfrey V (1960) Biochemical activities of the cell nucleus. Dis Nerv Syst 21(2) Suppl:23-28
26. Hirschhorn R, Decsy MI, Troll W (1971) The effect of PHA stimulation of human peripheral blood lymphocytes upon cellular content of euchromatin and heterochromatin. Cell Immunol 2(6):696-701
27. Kind J, Pagie L, Ortabozkoyun H, Boyle S, de Vries SS, Janssen H, Amendola M, Nolen LD, Bickmore WA, van Steensel B (2013) Single-cell dynamics of genome-nuclear lamina interactions. Cell 153(1):178-192, doi:S0092-8674(13) 00217-1 [pii] 10.1016/j.cell.2013.02.028
28. Minc E, Allory Y, Worman HJ, Courvalin JC, Buendia B (1999) Localization and phosphorylation of HP1 proteins during the cell cycle in mammalian cells. Chromosoma 108(4):220-234, doi:91080220.412 [pii]
29. Rabl C (1885) Über Zelltheilung. Morphol Jahrb 10:214-330
30. Cowan CR, Carlton PM, Cande WZ (2001) The polar arrangement of telomeres in interphase and meiosis. Rabl organization and the bouquet. Plant Physiol 125(2):532-538
31. Bass HW, Marshall WF, Sedat JW, Agard DA, Cande WZ (1997) Telomeres cluster de novo before the initiation of synapsis: a three-dimensional spatial analysis of telomere positions before and during meiotic prophase. J Cell Biol 137(1):5-18
32. Scherthan H, Weich S, Schwegler H, Heyting C, Harle M, Cremer T (1996) Centromere and telomere movements during early meiotic prophase of mouse and man are associated with the onset of chromosome pairing. J Cell Biol 134(5):1109-1125
33. Aquiles Sanchez J, Karni RJ, Wangh LJ (1997) Fluorescent in situ hybridization (FISH) analysis of the relationship between chromosome location and nuclear morphology in human neutrophils. Chromosoma 106(3):168-177
34. Galy V, Olivo-Marin JC, Scherthan H, Doye V, Rascalou N, Nehrbass U (2000) Nuclear pore complexes in the organization of silent telomeric chromatin. Nature 403(6765):108-112
35. Scherthan H, Jerratsch M, Li B, Smith S, Hulten M, Lock T, de Lange T (2000) Mammalian meiotic telomeres: protein composition and redistribution in relation to nuclear pores. Mol Biol Cell 11(12):4189-4203
36. Schmitt J, Benavente R, Hodzic D, Hoog C, Stewart CL, Alsheimer M (2007) Transmembrane protein Sun2 is involved in tethering mammalian meiotic telomeres to the nuclear envelope. Proc Natl Acad Sci USA 104(18):7426-7431
37. Bupp JM, Martin AE, Stensrud ES, Jaspersen SL (2007) Telomere anchoring at the nuclear periphery requires the budding yeast Sad1-UNC-84 domain protein Mps3. J Cell Biol 179(5):845-854, doi:jcb.200706040 [pii] 10.1083/jcb.200706040
38. Chikashige Y, Tsutsumi C, Yamane M, Okamasa K, Haraguchi T, Hiraoka Y (2006) Meiotic proteins bqt1 and bqt2 tether telomeres to form the bouquet arrangement of chromosomes. Cell 125(1):59-69, doi:S0092-8674(06)00318-7 [pii] 10.1016/j.cell.2006.01.048
39. Conrad MN, Lee CY, Wilkerson JL, Dresser ME (2007) MPS3 mediates meiotic bouquet formation in Saccharomyces cerevisiae. Proc Natl Acad Sci USA 104(21):8863-8868
40. Hou H, Zhou Z, Wang Y, Wang J, Kallgren SP, Kurchuk T, Miller EA, Chang F, Jia S (2012) Csi1 links centromeres to the nuclear envelope for centromere clustering. J Cell Biol 199(5):735-744, doi:jcb.201208001 [pii] 10.1083/jcb.201208001
41. Baricheva EA, Berrios M, Bogachev SS, Borisevich IV, Lapik ER, Sharakhov IV, Stuurman N, Fisher PA (1996) DNA from Drosophila melanogaster beta-heterochromatin binds specifi-cally to nuclear lamins in vitro and the nuclear envelope in situ. Gene 171(2):171-176
42. Shoeman RL, Traub P (1990) The in vitro DNA-binding properties of purifi ed nuclear lamin proteins and vimentin. J Biol Chem 265(16):9055-9061
43. Boveri T (1909) Die blastomerenkerne von Ascaris megalocephala und die Theorie der Chromosomen-indiviüalitat. Arch Zellforsch 3:181-268
44. 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(6):1119-1131
45. Bickmore WA, Teague P (2002) Infl uences of chromosome size, gene density and nuclear position on the frequency of constitutional translocations in the human population. Chromosome Res 10(8):707-715
46. Cremer M, Kupper K, Wagler B, Wizelman L, von Hase J, Weiland Y, Kreja L, Diebold J, Speicher MR, Cremer T (2003) Inheritance of gene density-related higher order chromatin arrangements in normal and tumor cell nuclei. J Cell Biol 162(5):809-820, doi: 10.1083/jcb.200304096jcb.200304096 [pii]
47. Meaburn KJ, Newbold RF, Bridger JM (2008) Positioning of human chromosomes in murine cell hybrids according to synteny. Chromosoma 117(6):579-591
48. Kim SH, McQueen PG, Lichtman MK, Shevach EM, Parada LA, Misteli T (2004) Spatial genome organization during T-cell differentiation. Cytogenet Genome Res 105(2-4):292-301
49. Parada LA, McQueen PG, Misteli T (2004) Tissue-specifi c spatial organization of genomes. Genome Biol 5(7):R44
50. Parada LA, McQueen PG, Munson PJ, Misteli T (2002) Conservation of relative chromosome positioning in normal and cancer cells. Curr Biol 12(19):1692-1697
51. Solovei I, Kreysing M, Lanctot C, Kosem S, Peichl L, Cremer T, Guck J, Joffe B (2009) Nuclear architecture of rod photoreceptor cells adapts to vision in mammalian evolution. Cell 137(2):356-368, doi:S0092-8674(09)00137-8 [pii] 10.1016/j.cell.2009.01.052
52. Marshall WF, Dernburg AF, Harmon B, Agard DA, Sedat JW (1996) Specifi c interactions of chromatin with the nuclear envelope: positional determination within the nucleus in Drosophila melanogaster. Mol Biol Cell 7(5):825-842
53. Kosak ST, Skok JA, Medina KL, Riblet R, Le Beau MM, Fisher AG, Singh H (2002) Subnuclear compartmentalization of immunoglobulin loci during lymphocyte development. Science 296(5565):158-162
54. Williams RR, Azuara V, Perry P, Sauer S, Dvorkina M, Jorgensen H, Roix J, McQueen P, Misteli T, Merkenschlager M, Fisher AG (2006) Neural induction promotes large-scale chromatin reorganisation of the Mash1 locus. J Cell Sci 119(Pt 1):132-140
55. Szczerbal I, Foster HA, Bridger JM (2009) The spatial repositioning of adipogenesis genes is correlated with their expression status in a porcine mesenchymal stem cell adipogenesis model system. Chromosoma 118(5):647-663. doi: 10.1007/s00412-009-0225-5
56. Zink D, Amaral MD, Englmann A, Lang S, Clarke LA, Rudolph C, Alt F, Luther K, Braz C, Sadoni N, Rosenecker J, Schindelhauer D (2004) Transcription-dependent spatial arrangements of CFTR and adjacent genes in human cell nuclei. J Cell Biol 166(6):815-825
57. Nielsen JA, Hudson LD, Armstrong RC (2002) Nuclear organization in differentiating oligodendrocytes. J Cell Sci 115(Pt 21):4071-4079
58. Hewitt SL, High FA, Reiner SL, Fisher AG, Merkenschlager M (2004) Nuclear repositioning marks the selective exclusion of lineage-inappropriate transcription factor loci during T helper cell differentiation. Eur J Immunol 34(12):3604-3613
59. Park PC, De Boni U (1998) A specifi c conformation of the territory of chromosome 17 locates ERBB-2 sequences to a DNase-hypersensitive domain at the nuclear periphery. Chromosoma 107(2):87-95
60. Johnson C, Primorac D, McKinstry M, McNeil J, Rowe D, Lawrence JB (2000) Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain. J Cell Biol 150(3):417-432
61. Morey C, Da Silva NR, Kmita M, Duboule D, Bickmore WA (2008) Ectopic nuclear reorganisation driven by a Hoxb1 transgene transposed into Hoxd. J Cell Sci 121(Pt 5):571-577, doi:jcs.023234 [pii] 10.1242/jcs.023234
62. Albiez H, Cremer M, Tiberi C, Vecchio L, Schermelleh L, Dittrich S, Kupper K, Joffe B, Thormeyer T, von Hase J, Yang S, Rohr K, Leonhardt H, Solovei I, Cremer C, Fakan S, Cremer T (2006) Chromatin domains and the interchromatin compartment form structurally defi ned and functionally interacting nuclear networks. Chromosome Res 14(7):707-733
63. Morey C, Da Silva NR, Perry P, Bickmore WA (2007) Nuclear reorganisation and chromatin decondensation are conserved, but distinct, mechanisms linked to Hox gene activation. Development 134(5):909-919. doi: 10.1242/dev.02779
64. Misteli T (2007) Beyond the sequence: cellular organization of genome function. Cell 128(4):787-800. doi: 10.1016/j.cell.2007.01.028
65. Finlan LE, Sproul D, Thomson I, Boyle S, Kerr E, Perry P, Ylstra B, Chubb JR, Bickmore WA (2008) Recruitment to the nuclear periphery can alter expression of genes in human cells. PLoS Genet 4(3):e1000039
66. Kumaran RI, Spector DL (2008) A genetic locus targeted to the nuclear periphery in living cells maintains its transcriptional competence. J Cell Biol 180(1):51-65
67. Reddy KL, Zullo JM, Bertolino E, Singh H (2008) Transcriptional repression mediated by repositioning of genes to the nuclear lamina. Nature 452(7184):243-247
68. Clowney EJ, LeGros MA, Mosley CP, Clowney FG, Markenskoff-Papadimitriou EC, Myllys M, Barnea G, Larabell CA, Lomvardas S (2012) Nuclear aggregation of olfactory receptor genes governs their monogenic expression. Cell 151(4):724-737, doi:S0092-8674(12)01286-X [pii] 10.1016/j.cell.2012.09.043
69. Schirmer EC, Gerace L (2004) The stability of the nuclear lamina polymer changes with the composition of lamin subtypes according to their individual binding strengths. J Biol Chem 279(41):42811-42817
70. Hoger TH, Krohne G, Kleinschmidt JA (1991) Interaction of Xenopus lamins A and LII with chromatin in vitro mediated by a sequence element in the carboxyterminal domain. Exp Cell Res 197(2):280-289
71. Taniura H, Glass C, Gerace L (1995) A chromatin binding site in the tail domain of nuclear lamins that interacts with core histones. J Cell Biol 131(1):33-44
72. Goldberg M, Harel A, Brandeis M, Rechsteiner T, Richmond TJ, Weiss AM, Gruenbaum Y (1999) The tail domain of lamin Dm0 binds histones H2A and H2B. Proc Natl Acad Sci USA 96(6):2852-2857
73. Luderus ME, den Blaauwen JL, de Smit OJ, Compton DA, van Driel R (1994) Binding of matrix attachment regions to lamin polymers involves single-stranded regions and the minor groove. Mol Cell Biol 14(9):6297-6305
74. Luderus ME, de Graaf A, Mattia E, den Blaauwen JL, Grande MA, de Jong L, van Driel R (1992) Binding of matrix attachment regions to lamin B1. Cell 70(6):949-959
75. Rzepecki R, Bogachev SS, Kokoza E, Stuurman N, Fisher PA (1998) In vivo association of lamins with nucleic acids in Drosophila melanogaster. J Cell Sci 111(Pt 1):121-129
76. Haraguchi T, Koujin T, Hayakawa T, Kaneda T, Tsutsumi C, Imamoto N, Akazawa C, Sukegawa J, Yoneda Y, Hiraoka Y (2000) Live fl uorescence imaging reveals early recruitment of emerin, LBR, RanBP2, and Nup153 to reforming functional nuclear envelopes. J Cell Sci 113(Pt 5):779-794
77. Polioudaki H, Kourmouli N, Drosou V, Bakou A, Theodoropoulos PA, Singh PB, Giannakouros T, Georgatos SD (2001) Histones H3/H4 form a tight complex with the inner nuclear membrane protein LBR and heterochromatin protein 1. EMBO Rep 2(10):920-925
78. Lachner M, O'Carroll D, Rea S, Mechtler K, Jenuwein T (2001) Methylation of histone H3 lysine 9 creates a binding site for HP1 proteins. Nature 410(6824):116-120. doi: 10.1038/35065132
79. Bannister AJ, Zegerman P, Partridge JF, Miska EA, Thomas JO, Allshire RC, Kouzarides T (2001) Selective recognition of methylated lysine 9 on histone H3 by the HP1 chromo domain. Nature 410(6824):120-124. doi: 10.1038/35065138
80. Foisner R, Gerace L (1993) Integral membrane proteins of the nuclear envelope interact with lamins and chromosomes, and binding is modulated by mitotic phosphorylation. Cell 73(7):1267-1279
81. Furukawa K (1999) LAP2 binding protein 1 (L2BP1/BAF) is a candidate mediator of LAP2-chromatin interaction. J Cell Sci 112(Pt 15):2485-2492
82. Cai M, Huang Y, Ghirlando R, Wilson KL, Craigie R, Clore GM (2001) Solution structure of the constant region of nuclear envelope protein LAP2 reveals two LEM-domain structures: one binds BAF and the other binds DNA. EMBO J 20(16):4399-4407
83. Zheng R, Ghirlando R, Lee MS, Mizuuchi K, Krause M, Craigie R (2000) Barrier-toautointegration factor (BAF) bridges DNA in a discrete, higher-order nucleoprotein complex. Proc Natl Acad Sci USA 97(16):8997-9002
84. Montes de Oca R, Lee KK, Wilson KL (2005) Binding of barrier to autointegration factor (BAF) to histone H3 and selected linker histones including H1.1. J Biol Chem 280(51):42252-42262
85. Caputo S, Couprie J, Duband-Goulet I, Konde E, Lin F, Braud S, Gondry M, Gilquin B, Worman HJ, Zinn-Justin S (2006) The carboxyl-terminal nucleoplasmic region of MAN1 exhibits a DNA binding winged helix domain. J Biol Chem 281(26):18208-18215
86. Gerasimova TI, Byrd K, Corces VG (2000) A chromatin insulator determines the nuclear localization of DNA. Mol Cell 6(5):1025-1035
87. Sun FL, Elgin SC (1999) Putting boundaries on silence. Cell 99(5):459-462
88. Ramos E, Ghosh D, Baxter E, Corces VG (2006) Genomic organization of gypsy chromatin insulators in Drosophila melanogaster. Genetics 172(4):2337-2349. doi: 10.1534/genetics.105.054742
89. Yang J, Corces VG (2012) Insulators, long-range interactions, and genome function. Curr Opin Genet Dev 22(2):86-92. doi: 10.1016/j.gde.2011.12.007
90. Bell AC, West AG, Felsenfeld G (1999) The protein CTCF is required for the enhancer blocking activity of vertebrate insulators. Cell 98(3):387-396
91. Loukinov DI, Pugacheva E, Vatolin S, Pack SD, Moon H, Chernukhin I, Mannan P, Larsson E, Kanduri C, Vostrov AA, Cui H, Niemitz EL, Rasko JE, Docquier FM, Kistler M, Breen JJ, Zhuang Z, Quitschke WW, Renkawitz R, Klenova EM, Feinberg AP, Ohlsson R, Morse HC 3rd, Lobanenkov VV (2002) BORIS, a novel male germ-line-specifi c protein associated with epigenetic reprogramming events, shares the same 11-zinc-fi nger domain with CTCF, the insulator protein involved in reading imprinting marks in the soma. Proc Natl Acad Sci USA 99(10):6806-6811. doi: 10.1073/pnas.092123699
92. Handoko L, Xu H, Li G, Ngan CY, Chew E, Schnapp M, Lee CW, Ye C, Ping JL, Mulawadi F, Wong E, Sheng J, Zhang Y, Poh T, Chan CS, Kunarso G, Shahab A, Bourque G, Cacheux-Rataboul V, Sung WK, Ruan Y, Wei CL (2011) CTCF-mediated functional chromatin interactome in pluripotent cells. Nat Genet 43(7):630-638. doi: 10.1038/ng.857
93. Pickersgill H, Kalverda B, de Wit E, Talhout W, Fornerod M, van Steensel B (2006) Characterization of the Drosophila melanogaster genome at the nuclear lamina. Nat Genet 38(9):1005-1014
94. Guelen L, Pagie L, Brasset E, Meuleman W, Faza MB, Talhout W, Eussen BH, de Klein A, Wessels L, de Laat W, van Steensel B (2008) Domain organization of human chromosomes revealed by mapping of nuclear lamina interactions. Nature 453(7197):948-951, doi:nature06947 [pii] 10.1038/nature06947
95. Kind J, van Steensel B (2010) Genome-nuclear lamina interactions and gene regulation. Curr Opin Cell Biol 22(3):320-325, doi:S0955-0674(10)00054-2 [pii] 10.1016/j. ceb.2010.04.002
96. Peric-Hupkes D, Meuleman W, Pagie L, Bruggeman SW, Solovei I, Brugman W, Graf S, Flicek P, Kerkhoven RM, van Lohuizen M, Reinders M, Wessels L, van Steensel B (2010) Molecular maps of the reorganization of genome-nuclear lamina interactions during differentiation. Mol Cell 38(4):603-613, doi:S1097-2765(10)00321-7 [pii] 10.1016/j.molcel.2010.03.016
97. Lienert F, Mohn F, Tiwari VK, Baubec T, Roloff TC, Gaidatzis D, Stadler MB, Schubeler D (2011) Genomic prevalence of heterochromatic H3K9me2 and transcription do not discriminate pluripotent from terminally differentiated cells. PLoS Genet 7(6):e1002090. doi: 10.1371/journal.pgen.1002090
98. Wen B, Wu H, Shinkai Y, Irizarry RA, Feinberg AP (2009) Large histone H3 lysine 9 dimethylated chromatin blocks distinguish differentiated from embryonic stem cells. Nat Genet 41(2):246-250. doi: 10.1038/ng.297
99. Lee KK, Haraguchi T, Lee RS, Koujin T, Hiraoka Y, Wilson KL (2001) Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF. J Cell Sci 114(Pt 24):4567-4573
100. Mansharamani M, Wilson KL (2005) Direct binding of nuclear membrane protein MAN1 to emerin in vitro and two modes of binding to barrier-to- autointegration factor. J Biol Chem 280(14):13863-13870
101. Montes de Oca R, Shoemaker CJ, Gucek M, Cole RN, Wilson KL (2009) Barrier-toautointegration factor proteome reveals chromatin-regulatory partners. PLoS One 4(9):e7050. doi: 10.1371/journal.pone.0007050
102. Holaska JM, Wilson KL (2007) An emerin "proteome": purifi cation of distinct emerincontaining complexes from HeLa cells suggests molecular basis for diverse roles including gene regulation, mRNA splicing, signaling, mechanosensing, and nuclear architecture. Biochemistry 46(30):8897-8908. doi: 10.1021/bi602636m
103. Somech R, Shaklai S, Geller O, Amariglio N, Simon AJ, Rechavi G, Gal-Yam EN (2005) The nuclear-envelope protein and transcriptional repressor LAP2beta interacts with HDAC3 at the nuclear periphery, and induces histone H4 deacetylation. J Cell Sci 118(Pt 17):4017-4025. doi: 10.1242/jcs.02521
104. Dechat T, Gajewski A, Korbei B, Gerlich D, Daigle N, Haraguchi T, Furukawa K, Ellenberg J, Foisner R (2004) LAP2alpha and BAF transiently localize to telomeres and specifi c regions on chromatin during nuclear assembly. J Cell Sci 117(Pt 25):6117-6128
105. Suzuki Y, Yang H, Craigie R (2004) LAP2alpha and BAF collaborate to organize the Moloney murine leukemia virus preintegration complex. EMBO J 23(23):4670-4678
106. Shaklai S, Somech R, Gal-Yam EN, Deshet-Unger N, Moshitch-Moshkovitz S, Hirschberg K, Amariglio N, Simon AJ, Rechavi G (2008) LAP2zeta binds BAF and suppresses LAP2beta-mediated transcriptional repression. Eur J Cell Biol 87(5):267-278
107. Malhas AN, Lee CF, Vaux DJ (2009) Lamin B1 controls oxidative stress responses via Oct-1. J Cell Biol 184(1):45-55. doi: 10.1083/jcb.200804155
108. Chi YH, Haller K, Peloponese JM Jr, Jeang KT (2007) Histone acetyltransferase hALP and nuclear membrane protein hsSUN1 function in de-condensation of mitotic chromosomes. J Biol Chem 282(37):27447-27458
109. Jarnik M, Aebi U (1991) Toward a more complete 3-D structure of the nuclear pore complex. J Struct Biol 107(3):291-308
110. Guan T, Kehlenbach RH, Schirmer EC, Kehlenbach A, Fan F, Clurman BE, Arnheim N, Gerace L (2000) Nup50, a nucleoplasmically oriented nucleoporin with a role in nuclear protein export. Mol Cell Biol 20(15):5619-5630
111. Schermelleh L, Carlton PM, Haase S, Shao L, Winoto L, Kner P, Burke B, Cardoso MC, Agard DA, Gustafsson MG, Leonhardt H, Sedat JW (2008) Subdiffraction multicolor imaging of the nuclear periphery with 3D structured illumination microscopy. Science 320(5881):1332-1336. doi: 10.1126/science.1156947
112. Laroche T, Martin SG, Gotta M, Gorham HC, Pryde FE, Louis EJ, Gasser SM (1998) Mutation of yeast Ku genes disrupts the subnuclear organization of telomeres. Curr Biol 8(11):653-656
113. Maillet L, Gaden F, Brevet V, Fourel G, Martin SG, Dubrana K, Gasser SM, Gilson E (2001) Ku-defi cient yeast strains exhibit alternative states of silencing competence. EMBO Rep 2(3):203-210
114. Feuerbach F, Galy V, Trelles-Sticken E, Fromont-Racine M, Jacquier A, Gilson E, Olivo-Marin JC, Scherthan H, Nehrbass U (2002) Nuclear architecture and spatial positioning help establish transcriptional states of telomeres in yeast. Nat Cell Biol 4(3):214-221
115. Gartenberg MR, Neumann FR, Laroche T, Blaszczyk M, Gasser SM (2004) Sir-mediated repression can occur independently of chromosomal and subnuclear contexts. Cell 119(7):955-967
116. Akhtar A, Gasser SM (2007) The nuclear envelope and transcriptional control. Nat Rev Genet 8(7):507-517
117. Vaquerizas JM, Suyama R, Kind J, Miura K, Luscombe NM, Akhtar A (2010) Nuclear pore proteins nup153 and megator defi ne transcriptionally active regions in the Drosophila genome. PLoS Genet 6(2):e1000846. doi: 10.1371/journal.pgen.1000846
118. Capelson M, Liang Y, Schulte R, Mair W, Wagner U, Hetzer MW (2010) Chromatin-bound nuclear pore components regulate gene expression in higher eukaryotes. Cell 140(3): 372-383, doi:S0092-8674(09)01681-X [pii] 10.1016/j.cell.2009.12.054
119. Kalverda B, Pickersgill H, Shloma VV, Fornerod M (2010) Nucleoporins directly stimulate expression of developmental and cell-cycle genes inside the nucleoplasm. Cell 140(3):360-371, doi:S0092-8674(10)00012-7 [pii] 10.1016/j.cell.2010.01.011
120. Luthra R, Kerr SC, Harreman MT, Apponi LH, Fasken MB, Ramineni S, Chaurasia S, Valentini SR, Corbett AH (2007) Actively transcribed GAL genes can be physically linked to the nuclear pore by the SAGA chromatin modifying complex. J Biol Chem 282(5):3042-3049. doi: 10.1074/jbc.M608741200
121. Baker SP, Grant PA (2007) The SAGA continues: expanding the cellular role of a transcriptional co-activator complex. Oncogene 26(37):5329-5340. doi: 10.1038/sj.onc.1210603
122. Nagy Z, Tora L (2007) Distinct GCN5/PCAF-containing complexes function as co-activators and are involved in transcription factor and global histone acetylation. Oncogene 26(37): 5341-5357. doi: 10.1038/sj.onc.1210604
123. Rodriguez-Navarro S, Fischer T, Luo MJ, Antunez O, Brettschneider S, Lechner J, Perez-Ortin JE, Reed R, Hurt E (2004) Sus1, a functional component of the SAGA histone acetylase complex and the nuclear pore-associated mRNA export machinery. Cell 116(1):75-86
124. Cabal GG, Genovesio A, Rodriguez-Navarro S, Zimmer C, Gadal O, Lesne A, Buc H, Feuerbach-Fournier F, Olivo-Marin JC, Hurt EC, Nehrbass U (2006) SAGA interacting factors confi ne sub-diffusion of transcribed genes to the nuclear envelope. Nature 441(7094):770-773. doi: 10.1038/nature04752
125. Pascual-Garcia P, Govind CK, Queralt E, Cuenca-Bono B, Llopis A, Chavez S, Hinnebusch AG, Rodriguez-Navarro S (2008) Sus1 is recruited to coding regions and functions during transcription elongation in association with SAGA and TREX2. Genes Dev 22(20): 2811-2822. doi: 10.1101/gad.483308
126. Klockner C, Schneider M, Lutz S, Jani D, Kressler D, Stewart M, Hurt E, Kohler A (2009) Mutational uncoupling of the role of Sus1 in nuclear pore complex targeting of an mRNA export complex and histone H2B deubiquitination. J Biol Chem 284(18):12049-12056. doi: 10.1074/jbc.M900502200
127. Rodriguez-Navarro S (2009) Insights into SAGA function during gene expression. EMBO Rep 10(8):843-850. doi: 10.1038/embor.2009.168
128. Kurshakova MM, Krasnov AN, Kopytova DV, Shidlovskii YV, Nikolenko JV, Nabirochkina EN, Spehner D, Schultz P, Tora L, Georgieva SG (2007) SAGA and a novel Drosophila export complex anchor effi cient transcription and mRNA export to NPC. EMBO J 26(24):4956-4965. doi: 10.1038/sj.emboj.7601901
129. Kurshakova M, Maksimenko O, Golovnin A, Pulina M, Georgieva S, Georgiev P, Krasnov A (2007) Evolutionarily conserved E(y)2/Sus1 protein is essential for the barrier activity of Su(Hw)-dependent insulators in Drosophila. Mol Cell 27(2):332-338. doi: 10.1016/j. molcel.2007.05.035
130. Wickramasinghe VO, McMurtrie PI, Mills AD, Takei Y, Penrhyn-Lowe S, Amagase Y, Main S, Marr J, Stewart M, Laskey RA (2010) mRNA export from mammalian cell nuclei is dependent on GANP. Curr Biol 20(1):25-31. doi: 10.1016/j.cub.2009.10.078
131. Jani D, Lutz S, Marshall NJ, Fischer T, Kohler A, Ellisdon AM, Hurt E, Stewart M (2009) Sus1, Cdc31, and the Sac3 CID region form a conserved interaction platform that promotes nuclear pore association and mRNA export. Mol Cell 33(6):727-737. doi: 10.1016/j. molcel.2009.01.033
132. Casolari JM, Brown CR, Komili S, West J, Hieronymus H, Silver PA (2004) Genome-wide localization of the nuclear transport machinery couples transcriptional status and nuclear organization. Cell 117(4):427-439
133. Mendjan S, Taipale M, Kind J, Holz H, Gebhardt P, Schelder M, Vermeulen M, Buscaino A, Duncan K, Mueller J, Wilm M, Stunnenberg HG, Saumweber H, Akhtar A (2006) Nuclear pore components are involved in the transcriptional regulation of dosage compensation in Drosophila. Mol Cell 21(6):811-823. doi: 10.1016/j.molcel.2006.02.007
134. Ishii K, Arib G, Lin C, Van Houwe G, Laemmli UK (2002) Chromatin boundaries in budding yeast: the nuclear pore connection. Cell 109(5):551-562
135. Gerasimova TI, Corces VG (2001) Chromatin insulators and boundaries: effects on transcription and nuclear organization. Annu Rev Genet 35:193-208. doi: 10.1146/annurev. genet.35.102401.090349
136. Oki M, Valenzuela L, Chiba T, Ito T, Kamakaka RT (2004) Barrier proteins remodel and modify chromatin to restrict silenced domains. Mol Cell Biol 24(5):1956-1967
137. Dilworth DJ, Tackett AJ, Rogers RS, Yi EC, Christmas RH, Smith JJ, Siegel AF, Chait BT, Wozniak RW, Aitchison JD (2005) The mobile nucleoporin Nup2p and chromatin-bound Prp20p function in endogenous NPC-mediated transcriptional control. J Cell Biol 171(6):955-965
138. Luk E, Ranjan A, Fitzgerald PC, Mizuguchi G, Huang Y, Wei D, Wu C (2010) Stepwise histone replacement by SWR1 requires dual activation with histone H2A.Z and canonical nucleosome. Cell 143(5):725-736. doi: 10.1016/j.cell.2010.10.019
139. Li B, Pattenden SG, Lee D, Gutierrez J, Chen J, Seidel C, Gerton J, Workman JL (2005) Preferential occupancy of histone variant H2AZ at inactive promoters infl uences local histone modifi cations and chromatin remodeling. Proc Natl Acad Sci USA 102(51):18385-18390. doi: 10.1073/pnas.0507975102
140. Jacobson S, Pillus L (2009) The SAGA subunit Ada2 functions in transcriptional silencing. Mol Cell Biol 29(22):6033-6045. doi: 10.1128/MCB.00542-09
141. Holaska JM, Lee K, Kowalski AK, Wilson KL (2003) Transcriptional repressor germ cellless (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro. J Biol Chem 278(9):6969-6975
142. Nili E, Cojocaru GS, Kalma Y, Ginsberg D, Copeland NG, Gilbert DJ, Jenkins NA, Berger R, Shaklai S, Amariglio N, Brok-Simoni F, Simon AJ, Rechavi G (2001) Nuclear membrane protein LAP2beta mediates transcriptional repression alone and together with its binding partner GCL (germ-cell-less). J Cell Sci 114(18):3297-3307
143. Haraguchi T, Holaska JM, Yamane M, Koujin T, Hashiguchi N, Mori C, Wilson KL, Hiraoka Y (2004) Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy. Eur J Biochem 271(5):1035-1045
144. Ozaki T, Saijo M, Murakami K, Enomoto H, Taya Y, Sakiyama S (1994) Complex formation between lamin A and the retinoblastoma gene product: identifi cation of the domain on lamin A required for its interaction. Oncogene 9(9):2649-2653
145. Markiewicz E, Dechat T, Foisner R, Quinlan R, Hutchison C (2002) Lamin A/C binding protein LAP2alpha is required for nuclear anchorage of retinoblastoma protein. Mol Biol Cell 13(12):4401-4413
146. Naetar N, Korbei B, Kozlov S, Kerenyi MA, Dorner D, Kral R, Gotic I, Fuchs P, Cohen TV, Bittner R, Stewart CL, Foisner R (2008) Loss of nucleoplasmic LAP2alpha-lamin A complexes causes erythroid and epidermal progenitor hyperproliferation. Nat Cell Biol 10(11):1341-1348, doi:ncb1793 [pii] 10.1038/ncb1793
147. Gerace L, Burke B (1988) Functional organization of the nuclear envelope. Annu Rev Cell Biol 4:335-374
148. Ivorra C, Kubicek M, Gonzalez JM, Sanz-Gonzalez SM, Alvarez-Barrientos A, O'Connor JE, Burke B, Andres V (2006) A mechanism of AP-1 suppression through interaction of c-Fos with lamin A/C. Genes Dev 20(3):307-320, doi:20/3/307 [pii] 10.1101/gad.349506
149. Holaska JM, Rais-Bahrami S, Wilson KL (2006) Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes. Hum Mol Genet 15(23):3459-3472
150. Osada S, Ohmori SY, Taira M (2003) XMAN1, an inner nuclear membrane protein, antagonizes BMP signaling by interacting with Smad1 in Xenopus embryos. Development 130(9):1783-1794
151. Pan D, Estevez-Salmeron LD, Stroschein SL, Zhu X, He J, Zhou S, Luo K (2005) The integral inner nuclear membrane protein MAN1 physically interacts with the R-Smad proteins to repress signaling by the transforming growth factor-{beta} superfamily of cytokines. J Biol Chem 280(16):15992-16001
152. Misteli T (2001) Protein dynamics: implications for nuclear architecture and gene expression. Science 291(5505):843-847
153. Marshall WF, Straight A, Marko JF, Swedlow J, Dernburg A, Belmont A, Murray AW, Agard DA, Sedat JW (1997) Interphase chromosomes undergo constrained diffusional motion in living cells. Curr Biol 7(12):930-939, doi:S0960-9822(06)00412-X [pii]
154. Strickfaden H, Zunhammer A, van Koningsbruggen S, Kohler D, Cremer T (2010) 4D chromatin dynamics in cycling cells: Theodor Boveri's hypotheses revisited. Nucleus 1(3):284-297. doi: 10.4161/nucl.1.3.11969
155. Chubb JR, Boyle S, Perry P, Bickmore WA (2002) Chromatin motion is constrained by association with nuclear compartments in human cells. Curr Biol 12(6):439-445
156. Zink D, Bornfl eth H, Visser A, Cremer C, Cremer T (1999) Organization of early and late replicating DNA in human chromosome territories. Exp Cell Res 247(1):176-188
157. Janmey PA, Euteneuer U, Traub P, Schliwa M (1991) Viscoelastic properties of vimentin compared with other fi lamentous biopolymer networks. J Cell Biol 113(1):155-160
158. Crisp M, Liu Q, Roux K, Rattner JB, Shanahan C, Burke B, Stahl PD, Hodzic D (2006) Coupling of the nucleus and cytoplasm: role of the LINC complex. J Cell Biol 172(1):41-53
159. Starr DA, Fischer JA (2005) KASH 'n Karry: the KASH domain family of cargo-specifi c cytoskeletal adaptor proteins. Bioessays 27(11):1136-1146
160. Lammerding J, Schulze P, Takahashi T, Kozlov S, Sullivan T, Kamm R, Stewart C, Lee R (2004) Lamin A/C defi ciency causes defective nuclear mechanics and mechanotransduction. J Clin Invest 113(3):370-378
161. Liu J, Ben-Shahar T, Riemer D, Treinin M, Spann P, Weber K, Fire A, Gruenbaum Y (2000) Essential roles for Caenorhabditis elegans lamin gene in nuclear organization, cell cycle progression, and spatial organization of nuclear pore complexes. Mol Biol Cell 11(11):3937-3947
162. Schirmer EC, Guan T, Gerace L (2001) Involvement of the lamin rod domain in heterotypic lamin interactions important for nuclear organization. J Cell Biol 153(3):479-489
163. Lenz-Bohme B, Wismar J, Fuchs S, Reifegerste R, Buchner E, Betz H, Schmitt B (1997) Insertional mutation of the Drosophila nuclear lamin Dm0 gene results in defective nuclear envelopes, clustering of nuclear pore complexes, and accumulation of annulate lamellae. J Cell Biol 137(5):1001-1016
164. Capell BC, Collins FS (2006) Human laminopathies: nuclei gone genetically awry. Nat Rev Genet 7(12):940-952
165. Foisner R, Aebi U, Bonne G, Gruenbaum Y, Novelli G (2007) 141st ENMC International Workshop inaugural meeting of the EURO-Laminopathies project "Nuclear Envelope-linked Rare Human Diseases: From Molecular Pathophysiology towards Clinical Applications", 10-12 March 2006, Naarden, The Netherlands. Neuromuscul Disord 17(8):655-660
166. Worman HJ, Bonne G (2007) "Laminopathies": a wide spectrum of human diseases. Exp Cell Res 313(10):2121-2133
167. Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K (1999) Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 21(3):285-288
168. Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D (2000) Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 66(4):1407-1412
169. Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K (2000) Identifi cation of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 9(9):1453-1459
170. Cao H, Hegele RA (2000) Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 9(1):109-112
171. Hegele RA, Cao H, Liu DM, Costain GA, Charlton-Menys V, Rodger NW, Durrington PN (2006) Sequencing of the reannotated LMNB2 gene reveals novel mutations in patients with acquired partial lipodystrophy. Am J Hum Genet 79(2):383-389
172. Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC (2000) LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet 24(2):153-156
173. De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat J, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart C, Grid D, Levy N (2002) Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 70(3):726-736
174. Padiath QS, Saigoh K, Schiffmann R, Asahara H, Yamada T, Koeppen A, Hogan K, Ptacek LJ, Fu YH (2006) Lamin B1 duplications cause autosomal dominant leukodystrophy. Nat Genet 38(10):1114-1123
175. Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Muehle G, Johnson W, McDonough B (1999) Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease [see comments]. N Engl J Med 341(23):1715-1724
176. Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N (2004) Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet 13(20):2493-2503
177. Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS (2003) Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423(6937):293-298
178. De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart C, Munnich A, Le Merrer M, Levy N (2003) Lamin A truncation in Hutchinson-Gilford progeria. Science 300(5628):2055
179. Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, Toniolo D (1994) Identifi cation of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 8(4):323-327
180. Taylor MR, Slavov D, Gajewski A, Vlcek S, Ku L, Fain PR, Carniel E, Di Lenarda A, Sinagra G, Boucek MM, Cavanaugh J, Graw SL, Ruegg P, Feiger J, Zhu X, Ferguson DA, Bristow MR, Gotzmann J, Foisner R, Mestroni L (2005) Thymopoietin (lamina-associated polypeptide 2) gene mutation associated with dilated cardiomyopathy. Hum Mutat 26(6):566-574
181. Zhang Q, Bethmann C, Worth NF, Davies JD, Wasner C, Feuer A, Ragnauth CD, Yi Q, Mellad JA, Warren DT, Wheeler MA, Ellis JA, Skepper JN, Vorgerd M, Schlotter-Weigel B, Weissberg PL, Roberts RG, Wehnert M, Shanahan CM (2007) Nesprin-1 and-2 are involved in the pathogenesis of Emery-Dreifuss Muscular Dystrophy and are critical for nuclear envelope integrity. Hum Mol Genet 16(23):2816-2833
182. Cronshaw JM, Matunis MJ (2003) The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome. Proc Natl Acad Sci USA 100(10):5823-5827
183. Hellemans J, Preobrazhenska O, Willaert A, Debeer P, Verdonk PC, Costa T, Janssens K, Menten B, Van Roy N, Vermeulen SJ, Savarirayan R, Van Hul W, Vanhoenacker F, Huylebroeck D, De Paepe A, Naeyaert JM, Vandesompele J, Speleman F, Verschueren K, Coucke PJ, Mortier GR (2004) Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis. Nat Genet 36(11):1213-1218
184. Waterham H, Koster J, Mooyer P, Noort GG, Kelley R, Wilcox W, Wanders R, Hennekam R, Oosterwijk J (2003) Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3beta-hydroxysterol delta14-reductase defi ciency due to mutations in the lamin B receptor gene. Am J Hum Genet 72(4):1013-1017
185. Gros-Louis F, Dupre N, Dion P, Fox MA, Laurent S, Verreault S, Sanes JR, Bouchard JP, Rouleau GA (2007) Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet 39(1):80-85
186. Basel-Vanagaite L, Muncher L, Straussberg R, Pasmanik-Chor M, Yahav M, Rainshtein L, Walsh CA, Magal N, Taub E, Drasinover V, Shalev H, Attia R, Rechavi G, Simon AJ, Shohat M (2006) Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol 60(2):214-222
187. Gonzalez-Alegre P, Paulson HL (2004) Aberrant cellular behavior of mutant torsinA implicates nuclear envelope dysfunction in DYT1 dystonia. J Neurosci 24(11):2593-2601
188. Naismith TV, Heuser JE, Breakefi eld XO, Hanson PI (2004) TorsinA in the nuclear envelope. Proc Natl Acad Sci USA 101(20):7612-7617
189. Goodchild RE, Dauer WT (2004) Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc Natl Acad Sci USA 101(3):847-852
190. Hoffmann K, Dreger C, Olins A, Olins D, Shultz L, Lucke B, Karl H, Kaps R, Muller D, Vaya A, Aznar J, Ware R, Sotelo Cruz N, Lindner T, Herrmann H, Reis A, Sperling K (2002) Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huet anomaly). Nat Genet 31(4):410-414
191. Fidzianska A, Toniolo D, Hausmanowa-Petrusewicz I (1998) Ultrastructural abnormality of sarcolemmal nuclei in Emery-Dreifuss muscular dystrophy (EDMD). J Neurol Sci 159(1):88-93
192. Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F (2001) Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. Neuropathol Appl Neurobiol 27(4):281-290
193. Maraldi NM, Lattanzi G, Capanni C, Columbaro M, Mattioli E, Sabatelli P, Squarzoni S, Manzoli FA (2006) Laminopathies: a chromatin affair. Adv Enzyme Regul 46:33-49, doi:S0065-2571(06)00002-1 [pii] 10.1016/j.advenzreg.2006.01.001
194. Verga L, Concardi M, Pilotto A, Bellini O, Pasotti M, Repetto A, Tavazzi L, Arbustini E (2003) Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects. Virchows Arch 443(5):664-671
195. Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, Gordon LB, Gruenbaum Y, Khuon S, Mendez M, Varga R, Collins FS (2004) Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci USA 101(24):8963-8968
196. Taimen P, Pfl eghaar K, Shimi T, Moller D, Ben-Harush K, Erdos MR, Adam SA, Herrmann H, Medalia O, Collins FS, Goldman AE, Goldman RD (2009) A progeria mutation reveals functions for lamin A in nuclear assembly, architecture, and chromosome organization. Proc Natl Acad Sci USA 106(49):20788-20793, doi:0911895106 [pii] 10.1073/pnas.0911895106
197. Meaburn KJ, Cabuy E, Bonne G, Levy N, Morris GE, Novelli G, Kill IR, Bridger JM (2007) Primary laminopathy fi broblasts display altered genome organization and apoptosis. Aging Cell 6(2):139-153
198. Mewborn SK, Puckelwartz MJ, Abuisneineh F, Fahrenbach JP, Zhang Y, MacLeod H, Dellefave L, Pytel P, Selig S, Labno CM, Reddy K, Singh H, McNally E (2010) Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation. PLoS One 5(12):e14342. doi: 10.1371/journal.pone. 0014342
199. Shumaker DK, Dechat T, Kohlmaier A, Adam SA, Bozovsky MR, Erdos MR, Eriksson M, Goldman AE, Khuon S, Collins FS, Jenuwein T, Goldman RD (2006) Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging. Proc Natl Acad Sci USA 103(23):8703-8708
200. Scaffi di P, Misteli T (2006) Lamin A-dependent nuclear defects in human aging. Science 312(5776):1059-1063
201. Lattanzi G, Columbaro M, Mattioli E, Cenni V, Camozzi D, Wehnert M, Santi S, Riccio M, Del Coco R, Maraldi NM, Squarzoni S, Foisner R, Capanni C (2007) Pre-Lamin A processing is linked to heterochromatin organization. J Cell Biochem 102(5):1149-1159
202. Columbaro M, Capanni C, Mattioli E, Novelli G, Parnaik VK, Squarzoni S, Maraldi NM, Lattanzi G (2005) Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment. Cell Mol Life Sci 62(22):2669-2678
203. Capo-chichi CD, Cai KQ, Smedberg J, Ganjei-Azar P, Godwin AK, Xu XX (2011) Loss of A-type lamin expression compromises nuclear envelope integrity in breast cancer. Chin J Cancer 30(6):415-425
204. Willis ND, Cox TR, Rahman-Casans SF, Smits K, Przyborski SA, van den Brandt P, van Engeland M, Weijenberg M, Wilson RG, de Bruine A, Hutchison CJ (2008) Lamin A/C is a risk biomarker in colorectal cancer. PLoS One 3(8):e2988. doi: 10.1371/journal.pone.0002988
205. Skvortsov S, Schafer G, Stasyk T, Fuchsberger C, Bonn GK, Bartsch G, Klocker H, Huber LA (2011) Proteomics profi ling of microdissected low-and high-grade prostate tumors identifi es Lamin A as a discriminatory biomarker. J Proteome Res 10(1):259-268. doi: 10.1021/pr100921j
206. Chow KH, Factor RE, Ullman KS (2012) The nuclear envelope environment and its cancer connections. Nat Rev Cancer 12(3):196-209. doi: 10.1038/nrc3219
207. Baylin SB, Jones PA (2011) A decade of exploring the cancer epigenome-biological and translational implications. Nat Rev Cancer 11(10):726-734. doi: 10.1038/nrc3130
208. Berman BP, Weisenberger DJ, Aman JF, Hinoue T, Ramjan Z, Liu Y, Noushmehr H, Lange CP, van Dijk CM, Tollenaar RA, Van Den Berg D, Laird PW (2012) Regions of focal DNA hypermethylation and long-range hypomethylation in colorectal cancer coincide with nuclear lamina-associated domains. Nat Genet 44(1):40-46. doi: 10.1038/ng.969
209. Romana SP, Radford-Weiss I, Ben Abdelali R, Schluth C, Petit A, Dastugue N, Talmant P, Bilhou-Nabera C, Mugneret F, Lafage-Pochitaloff M, Mozziconacci MJ, Andrieu J, Lai JL, Terre C, Rack K, Cornillet-Lefebvre P, Luquet I, Nadal N, Nguyen-Khac F, Perot C, Van den Akker J, Fert-Ferrer S, Cabrol C, Charrin C, Tigaud I, Poirel H, Vekemans M, Bernard OA, Berger R (2006) NUP98 rearrangements in hematopoietic malignancies: a study of the Groupe Francophone de Cytogenetique Hematologique. Leukemia 20(4):696-706. doi: 10.1038/sj.leu.2404130
210. Nakamura T, Largaespada DA, Lee MP, Johnson LA, Ohyashiki K, Toyama K, Chen SJ, Willman CL, Chen IM, Feinberg AP, Jenkins NA, Copeland NG, Shaughnessy JD Jr (1996) Fusion of the nucleoporin gene NUP98 to HOXA9 by the chromosome translocation t(7;11) (p15;p15) in human myeloid leukaemia. Nat Genet 12(2):154-158. doi: 10.1038/ng0296-154
211. Kasper LH, Brindle PK, Schnabel CA, Pritchard CE, Cleary ML, van Deursen JM (1999) CREB binding protein interacts with nucleoporin-specifi c FG repeats that activate transcription and mediate NUP98-HOXA9 oncogenicity. Mol Cell Biol 19(1):764-776
212. Wang GG, Cai L, Pasillas MP, Kamps MP (2007) NUP98-NSD1 links H3K36 methylation to Hox-A gene activation and leukaemogenesis. Nat Cell Biol 9(7):804-812. doi: 10.1038/ncb1608
213. Wang GG, Song J, Wang Z, Dormann HL, Casadio F, Li H, Luo JL, Patel DJ, Allis CD (2009) Haematopoietic malignancies caused by dysregulation of a chromatin-binding PHD fi nger. Nature 459(7248):847-851. doi: 10.1038/nature08036
214. Wang GG, Allis CD (2009) "Misinterpretation" of a histone mark is linked to aberrant stem cells and cancer development. Cell Cycle 8(13):1982-1983