Nucleoporin genes in human diseases

European Journal of Human Genetics

Volumn 24, Issue 10, 2016, Pages 1388-1395

  Nofrini, Valeria ^a   DI Giacomo, Danika ^a   Mecucci, Cristina ^a  

^a UNIVERSITY OF PERUGIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

NUCLEOPORIN;

CARDIOVASCULAR DISEASE; DISEASES; GENE FUNCTION; GENE LOCATION; GENE STRUCTURE; HUMAN; IMMUNOPATHOLOGY; NEOPLASM; NEUROLOGIC DISEASE; NONHUMAN; NUCLEAR PORE COMPLEX; NUCLEOCYTOPLASMIC TRANSPORT; PRIORITY JOURNAL; REVIEW; VIRUS INFECTION; ANIMAL; GENETICS; METABOLISM;

ANIMALS; CARDIOVASCULAR DISEASES; HUMANS; IMMUNE SYSTEM DISEASES; NEOPLASMS; NERVOUS SYSTEM DISEASES; NUCLEAR PORE COMPLEX PROTEINS;

EID: 84963593657     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2016.25     Document Type: Review

References (70)

1. Wälde S, Kehlenbach RH: The Part and the Whole: functions of nucleoporins in nucleocytoplasmic transport. Trends Cell Biol 2010; 20: 461-469.
2. Jamali T, Jamali Y, Mehrbod M, Mofrad MR: Nuclear pore complex: biochemistry and biophysics of nucleocytoplasmic transport in health and disease. Int Rev Cell Mol Biol 2011; 287: 233-286.
3. Hoelz A, Debler EW, Blobel G: The structure of the nuclear pore complex. Annu Rev Biochem 2011; 80: 613-643.
4. Busayavalasa K, Chen X, Farrants AK, Wagner N, Sabri N: The Nup155-mediated organisation of inner nuclear membrane proteins is independent of Nup155 anchoring to the metazoan nuclear pore complex. J Cell Sci 2012; 125: 4214-4218.
5. Solmaz SR, Chauhan R, Blobel G, Mel?ák I: Molecular architecture of the transport channel of the nuclear pore complex. Cell 2011; 147: 590-602.
6. Raices M, D'Angelo MA: Nuclear pore complex composition: a new regulator of tissuespecific and developmental functions. Nat Rev Mol Cell Biol 2012; 13: 687-699.
7. Cautain B, Hill R, de Pedro N, Link W: Components and regulation of nuclear transport processes. FEBS J 2015; 282: 445-462.
8. Ibarra A, Hetzer MW: Nuclear pore proteins and the control of genome functions. Genes Dev 2015; 29: 337-349.
9. Simon DN, Rout MP: Cancer and the nuclear pore complex. Adv Exp Med Biol 2014; 773: 285-307.
10. Enarson P, Rattner JB, Ou Y, Miyachi K, Horigome T, Fritzler MJ: Autoantigens of the nuclear pore complex. J Mol Med 2004; 82: 423-433.
11. Duarte-Rey C, Bogdanos D, Yang CY et al: Primary biliary cirrhosis and the nuclear pore complex. Autoimmun Rev 2012; 11: 898-902.
12. Lima FA, Moreira-Filho CA, Ramos PL et al: Decreased AIRE expression and global thymic hypofunction in Down syndrome. J Immunol 2011; 187: 3422-3430.
13. Li J, Li X, Hou R et al: Psoriatic T cells reduce epidermal turnover time and affect cell proliferation contributed from differential gene expression. J Dermatol 2015; 42: 874-880.
14. Faria AM, Levay A, Wang Y et al: The nucleoporin Nup96 is required for proper expression of interferon-regulated proteins and functions. Immunity 2006; 24: 295-304.
15. Toda E, Terashima Y, Esaki K et al: Identification of a binding element for the cytoplasmic regulator FROUNT in the membrane-proximal C-terminal region of chemokine receptors CCR2 and CCR5. Biochem J 2014; 457: 313-322.
16. Rabe B, Vlachou A, Panté N, Helenius A, Kann M: Nuclear import of hepatitis B virus capsids and release of the viral genome. Proc Natl Acad Sci USA 2003; 100: 9849-9854.
17. Schmitz A, Schwarz A, Foss M et al: Nucleoporin 153 arrests the nuclear import of hepatitis B virus capsids in the nuclear basket. PLoS Pathog 2010; 6: e1000741.
18. Copeland AM, Newcomb WW, Brown JC: Herpes simplex virus replication: roles of viral proteins and nucleoporins in capsid-nucleus attachment. J Virol 2009; 83: 1660-1668.
19. Fay N, Panté N: Nuclear entry of DNA viruses. Front Microbiol 2015; 6: 467.
20. Park N, Katikaneni P, Skern T, Gustin KE: Differential targeting of nuclear pore complex proteins in poliovirus-infected cells. J Virol 2008; 82: 1647-1655.
21. Kuss SK, Mata MA, Zhang L, Fontoura BM: Nuclear imprisonment: viral strategies to arrest host mRNA nuclear export. Viruses 2013; 18: 1824-1849.
22. Rajani KR, Pettit Kneller EL, McKenzie MO, Horita DA, Chou JW, Lyles DS: Complexes of vesicular stomatitis virus matrix protein with host Rae1 and Nup98 involved in inhibition of host transcription. PLoS Pathog 2012; 8: e1002929.
23. Campbell EM, Hope TJ: HIV-1 capsid: the multifaceted key player in HIV-1 infection. Nat Rev Microbiol 2015; 13: 471-483.
24. Marini B, Kertesz-Farkas A, Ali H et al: Nuclear architecture dictates HIV-1 integration site selection. Nature 2015; 521: 227-231.
25. Sarathi V, Shah NS: Triple-A syndrome. Adv Exp Med Biol 2010; 685: 1-8.
26. Storr HL, Kind B, Parfitt DA et al: Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism. Mol Endocrinol 2009; 23: 2086-2094.
27. Jühlen R, Idkowiak J, Taylor AE et al: Role of ALADiN in Human Adrenocortical Cells for Oxidative Stress Response and Steroidogenesis. PLoS One 2015; 10: e0124582.
28. Kaneb HM, Folkmann AW, Belzil VV et al: Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis. Hum Mol Genet 2015; 24: 1363-1373.
29. Neilson DE, Adams MD, Orr CM et al: Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2. Am J Hum Genet 2009; 84: 44-51.
30. Kinoshita Y, Ito H, Hirano A et al: Nuclear contour irregularity and abnormal transporter protein distribution in anterior horn cells in amyotrophic lateral sclerosis. J Neuropathol Exp Neurol 2009; 68: 1184-1192.
31. Basel-Vanagaite L, Muncher L, Straussberg R et al: Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. Ann Neurol 2006; 60: 214-222.
32. Alazami AM, Patel N, Shamseldin HE et al: Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep 2015; 10: 148-161.
33. Miyake N, Tsukaguchi H, Koshimizu E et al: Biallelic mutations in nuclear pore complex subunit NUP107 cause early-childhood-onset steroid-resistant nephrotic syndrome. Am J Hum Genet 2015; 97: 555-566.
34. D'Angelo MA, Gomez-Cavazos JS, Mei A, Lackner DH, Hetzer MW: A change in nuclear pore complex composition regulates cell differentiation. Dev Cell 2012; 22: 446-458.
35. Lupu F, Alves A, Anderson K, Doye V, Lacy E: Nuclear pore composition regulates neural stem/progenitor cell differentiation in the mouse embryo. Dev Cell 2008; 14: 831-842.
36. Niu X, Hong J, Zheng X et al: The nuclear pore complex function of Sec13 protein is required for cell survival during retinal development. J Biol Chem 2014; 289: 11971-11985.
37. Zheng X, Yang S, Han Y et al: A.Loss of zygotic NUP107 protein causes missing of pharyngeal skeleton and other tissue defects with impaired nuclear pore function in zebrafish embryos. J Biol Chem 2012; 287: 38254-38264.
38. Grill B, Chen L, Tulgren ED et al: RAE-1, a novel PHR binding protein, is required for axon termination and synapse formation in Caenorhabditis elegans. J Neurosci 2012; 32: 2628-2636.
39. Zhang X, Chen S, Yoo S et al: Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death. Cell 2008; 135: 1017-1027.
40. Schwartz M, Travesa A, Martell SW, Forbes DJ: Analysis of the initiation of nuclear pore assembly by ectopically targeting nucleoporins to chromatin. Nucleus 2015; 6: 40-54.
41. Kehat I, Accornero F, Aronow BJ, Molkentin JD: Modulation of chromatin position and gene expression by HDAC4 interaction with nucleoporins. J Cell Biol 2011; 193: 21-29.
42. Fakhro KA, Choi M, Ware SM et al: Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning. Proc Natl Acad Sci USA 2011; 108: 2915-2920.
43. Xu L, Pan L, Li J et al: Nucleoporin 35 regulates cardiomyocyte pH homeostasis by controlling Na+-H+ exchanger-1 expression. J Mol Cell Biol 2015; 7: 476-485.
44. Mariño-Enríquez A, Wang WL, Roy A et al: Epithelioid inflammatory myofibroblastic sarcoma: an aggressive intra-abdominal variant of inflammatory myofibroblastic tumor with nuclear membrane or perinuclear ALK. Am J Surg Pathol 2011; 35: 135-144.
45. Takeoka K, Okumura A, Maesako Y, Akasaka T, Ohno H: Crizotinib resistance in acute myeloid leukemia with inv(2)(p23q13)/RAN binding protein 2 (RANBP2) anaplastic lymphoma kinase (ALK) fusion and monosomy 7. Cancer Genet 2015; 208: 85-90.
46. Roberts KG, Morin RD, Zhang J et al: Genetic alterations activating kinase and cytokine receptor signaling in high-risk acute lymphoblastic leukemia. Cancer Cell 2012; 22: 153-166.
47. Zhou MH, Yang QM: NUP214 fusion genes in acute leukemia (Review). Oncol Lett 2014; 8: 959-962.
48. Fornerod M, Boer J, van Baal S et al: Relocation of the carboxyterminal part of CAN from the nuclear envelope to the nucleus as a result of leukemia-specific chromosome rearrangements. Oncogene 1995; 10: 1739-1748.
49. Van Vlierberghe P, van Grotel M, Tchinda J et al: The recurrent SET-NUP214 fusion as a new HOXA activation mechanism in pediatric T-cell acute lymphoblastic leukemia. Blood 2008; 111: 4668-4680.
50. Sandén C, Ageberg M, Petersson J, Lennartsson A, Gullberg U: Forced expression of the DEK-NUP214 fusion protein promotes proliferation dependent on upregulation of mTOR. BMC Cancer 2013; 13: 440.
51. Ageberg M, Drott K, Olofsson T, Gullberg U, Lindmark A: Identification of a novel and myeloid specific role of the leukemia-associated fusion protein DEK-NUP214 leading to increased protein synthesis. Genes Chromosomes Cancer 2008; 47: 276-287.
52. Takeda A, Yaseen NR: Nucleoporins and nucleocytoplasmic transport in hematologic malignancies. Semin Cancer Biol 2014; 27: 3-10.
53. Chatel G, Desai SH, Mattheyses AL, Powers MA, Fahrenkrog B: Domain topology of nucleoporin Nup98 within the nuclear pore complex. J Struct Biol 2012; 177: 81-89.
54. Gough SM, Slape CI, Aplan PD: NUP98 gene fusions and hematopoietic malignancies: common themes and new biologic insights. Blood 2011; 118: 6247-6257.
55. Light WH, Freaney J, Sood V et al: A conserved role for human Nup98 in altering chromatin structure and promoting epigenetic transcriptional memory. PLoS Biol 2013; 11: e1001524.
56. Pascual-Garcia P, Jeong J, Capelson M: Nucleoporin Nup98 associates with Trx/MLL and NSL histone-modifying complexes and regulates Hox gene expression. Cell Rep 2014; 9: 433-442.
57. Crescenzi B, Nofrini V, Barba G et al: NUP98/11p15 translocations affect CD34+ cells in myeloid and T lymphoid leukemias. Leuk Res 2015; 39: 769-772.
58. Saw J, Curtis DJ, Hussey DJ, Dobrovic A, Aplan PD, Slape CI: The fusion partner specifies the oncogenic potential of NUP98 fusion proteins. Leuk Res 2013; 37: 1668-1673.
59. Greenblatt S, Li L, Slape C et al: Knock-in of a FLT3/ITD mutation cooperates with a NUP98-HOXD13 fusion to generate acute myeloid leukemia in a mouse model. Blood 2012; 119: 2883-2894.
60. Xu H, Menendez S, Schlegelberger B et al: Loss of p53 accelerates the complications of myelodysplastic syndrome in a NUP98-HOXD13-driven mouse model. Blood 2012; 120: 3089-3097.
61. Petit A, Ragu C, Soler G et al: Functional analysis of the NUP98-CCDC28A fusion protein. Haematologica 2012; 97: 379-387.
62. Puthiyaveetil AG, Reilly CM, Pardee TS, Caudell DL: Non-homologous end joining mediated DNA repair is impaired in the NUP98-HOXD13 mouse model for myelodysplastic syndrome. Leuk Res 2013; 37: 112-116.
63. Funasaka T, Nakano H, Wu Y et al: RNA export factor RAE1 contributes to NUP98-HOXA9-mediated leukemogenesis. Cell Cycle 2011; 10: 1456-1467.
64. Salsi V, Ferrari S, Gorello P et al: NUP98 fusion oncoproteins promote aneuploidy by attenuating the mitotic spindle checkpoint. Cancer Res 2014; 74: 1079-1090.
65. Singer S, Zhao R, Barsotti AM et al: Nuclear pore component Nup98 is a potential tumor suppressor and regulates posttranscriptional expression of select p53 target genes. Mol Cell 2012; 48: 799-810.
66. Denk D, Bradtke J, König M, Strehl S: PAX5 fusion genes in t(7;9)(q11.2;p13) leukemia: a case report and review of the literature. Mol Cytogenet 2014; 7: 13.
67. Fortschegger K, Anderl S, Denk D, Strehl S: Functional heterogeneity of PAX5 chimeras reveals insight for leukemia development. Mol Cancer Res 2014; 12: 595-606.
68. Wang L, Motoi T, Khanin R et al: Identification of a novel, recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome-wide screen of exon-level expression data. Genes Chromosomes Cancer 2012; 51: 127-139.
69. Hashizume C, Nakano H, Yoshida K, Wong RW: Characterization of the role of the tumor marker Nup88 in mitosis. Mol Cancer 2010; 9: 119.
70. Takahashi N, van Kilsdonk JW, Ostendorf B et al: Tumor marker nucleoporin 88 kDa regulates nucleocytoplasmic transport of NF-kappaB. Biochem Biophys Res Commun 2008; 374: 424-430.