Premature senescence in cells from patients with autosomal recessive hypercholesterolemia (ARH) evidence for a role for ARH in mitosis

Arteriosclerosis, Thrombosis, and Vascular Biology

Volumn 31, Issue 10, 2011, Pages 2270-2277

  Sun, Xi Ming ^a   Patel, Dilip D ^a   Acosta, Juan Carlos ^a   Gil, Jesùs ^a   Soutar, Anne K ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Cell division; Gene mutations; Lipoproteins; Mitosis; Receptors

Indexed keywords

ALPHA TUBULIN; GAMMA TUBULIN; NOCODAZOLE; PROTEIN P16; ROSCOVITINE; CDC2 PROTEIN, HUMAN; CYCLIN B; CYCLIN DEPENDENT KINASE INHIBITOR 2A; H2AFX PROTEIN, HUMAN; HISTONE; LAMIN B; LAMIN B1; LDLRAP1 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE HYPERCHOLESTEROLEMIA; CELL AGING; CELL CULTURE; CELL CYCLE G2 PHASE; CELL CYCLE M PHASE; CELL DIVISION; CELL GROWTH; CELL NUCLEUS MEMBRANE; CONTROLLED STUDY; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; HYPERCHOLESTEROLEMIA; IMMUNOBLOTTING; IMMUNOFLUORESCENCE; IMMUNOPRECIPITATION; MASS SPECTROMETRY; MITOSIS; MITOSIS SPINDLE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; RNA INTERFERENCE; ATHEROSCLEROSIS; CASE CONTROL STUDY; CELL PROLIFERATION; CELL SHAPE; GENETIC TRANSFECTION; GENETICS; GENOTYPE; HELA CELL; METABOLISM; MICROTUBULE; MUTATION; NUCLEAR SHAPE; PATHOLOGY; PHENOTYPE; PHOSPHORYLATION; SITE DIRECTED MUTAGENESIS; SKIN; TIME;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ATHEROSCLEROSIS; CASE-CONTROL STUDIES; CELL AGING; CELL NUCLEUS SHAPE; CELL PROLIFERATION; CELL SHAPE; CYCLIN B; CYCLIN-DEPENDENT KINASE INHIBITOR P16; FIBROBLASTS; GENOTYPE; HELA CELLS; HISTONES; HUMANS; HYPERCHOLESTEROLEMIA; LAMIN TYPE B; MASS SPECTROMETRY; MICROTUBULES; MITOSIS; MITOTIC SPINDLE APPARATUS; MUTAGENESIS, SITE-DIRECTED; MUTATION; NUCLEAR ENVELOPE; PHENOTYPE; PHOSPHORYLATION; RNA INTERFERENCE; SKIN; TIME FACTORS; TRANSFECTION;

EID: 80555125141     PISSN: 10795642     EISSN: 15244636     Source Type: Journal    
DOI: 10.1161/ATVBAHA.111.232223     Document Type: Article

References (41)

1. Soutar AK, Naoumova RP, Traub LM. Genetics, clinical phenotype, and molecular cell biology of autosomal recessive hypercholesterolemia. Arterioscler Thromb Vasc Biol. 2003;23:1963-1970. (Pubitemid 37433187)
2. Garcia CK, Wilund K, Arca M, Zuliani G, Fellin R, Maioli M, Calandra S, Bertolini S, Cossu F, Grishin N, Barnes R, Cohen JC, Hobbs HH. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. Science. 2001;292:1394-1398. (Pubitemid 32476229)
3. Norman D, Sun XM, Bourbon M, Knight BL, Naoumova RP, Soutar AK. Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia. J Clin Invest. 1999;104:619-628.
4. Jones C, Hammer RE, Li WP, Cohen JC, Hobbs HH, Herz J. Normal sorting but defective endocytosis of the low density lipoprotein receptor in mice with autosomal recessive hypercholesterolemia. J Biol Chem. 2003;278:29024-29030. (Pubitemid 36935815)
5. Eden ER, Sun XM, Patel DD, Soutar AK. Adaptor protein disabled-2 modulates low density lipoprotein receptor synthesis in fibroblasts from patients with autosomal recessive hypercholesterolaemia. Hum Mol Genet. 2007;16:2751-2759. (Pubitemid 350018517)
6. Maurer ME, Cooper JA. The adaptor protein Dab2 sorts LDL receptors into coated pits independently of AP-2 and ARH. J Cell Sci. 2006;119:4235-4246. (Pubitemid 44774030)
7. Mishra SK, Watkins SC, Traub LM. The autosomal recessive hypercholesterolemia (ARH) protein interfaces directly with the clathrin-coat machinery. Proc Natl Acad Sci U S A. 2002;99:16099-16104. (Pubitemid 35462755)
8. Mameza MG, Lockard JM, Zamora E, Hillefors M, Lavina ZS, Kaplan BB. Characterization of the adaptor protein ARH expression in the brain and ARH molecular interactions. J Neurochem. 2007;103:927-941. (Pubitemid 47568744)
9. Nagai M, Meerloo T, Takeda T, Farquhar MG. The adaptor protein ARH escorts megalin to and through endosomes. Mol Biol Cell. 2003;14:4984-4996. (Pubitemid 37484812)
10. Lehtonen S, Shah M, Nielsen R, Iino N, Ryan JJ, Zhou H, Farquhar MG. The endocytic adaptor protein ARH associates with motor and centrosomal proteins and is involved in centrosome assembly and cytokinesis. Mol Biol Cell. 2008;19:2949-2961.
11. Arca M, Zuliani G, Wilund K, Campagna F, Fellin R, Bertolini S, Calandra S, Ricci G, Glorioso N, Maioli M, Pintus P, Carru C, Cossu F, Cohen J, Hobbs HH. Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis. Lancet. 2002;359:841-847. (Pubitemid 34233756)
12. Fellin R, Zuliani G, Arca M, Pintus P, Pacifico A, Montali A, Corsini A, Maioli M. Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolemia (ARH). Nutr Metab Cardiovasc Dis. 2003;13:278-286. (Pubitemid 38622732)
13. Acosta JC, O'Loghlen A, Banito A, Guijarro MV, Augert A, Raguz S, Fumagalli M, Da Costa M, Brown C, Popov N, Takatsu Y, Melamed J, d'Adda di Fagagna F, Bernard D, Hernando E, Gil J. Chemokine signaling via the CXCR2 receptor reinforces senescence. Cell. 2008;133:1006-1018. (Pubitemid 351795610)
14. de Oliveira RM. Klotho RNAi induces premature senescence of human cells via a p53/p21 dependent pathway. FEBS Lett. 2006;580:5753-5758.
15. Sun XM, Eden ER, Tosi I, Neuwirth CK, Wile D, Naoumova RP, Soutar AK. Evidence for effect of mutant PCSK9 on apolipoprotein B secretion as the cause of unusually severe dominant hypercholesterolaemia. Hum Mol Genet. 2005;14:1161-1169. (Pubitemid 40613905)
16. Alcorta DA, Xiong Y, Phelps D, Hannon G, Beach D, Barrett JC. Involvement of the cyclin-dependent kinase inhibitor p16 (INK4a) in replicative senescence of normal human fibroblasts. Proc Natl Acad Sci U S A. 1996;93:13742-13747. (Pubitemid 26424190)
17. Blethrow JD, Glavy JS, Morgan DO, Shokat KM. Covalent capture of kinase-specific phosphopeptides reveals Cdk1-cyclin B substrates. Proc Natl Acad Sci U S A. 2008;105:1442-1447. (Pubitemid 351346533)
18. Hurley PJ, Bunz F. ATM and ATR: components of an integrated circuit. Cell Cycle. 2007;6:414-417. (Pubitemid 46393443)
19. He J, Xu J, Xu XX, Hall RA. Cell cycle-dependent phosphorylation of Disabled-2 by cdc2. Oncogene. 2003;22:4524-4530. (Pubitemid 36920696)
20. Waterman-Storer CM, Holzbaur EL. The product of the Drosophila gene, Glued, is the functional homologue of the p150Glued component of the vertebrate dynactin complex. J Biol Chem. 1996;271:1153-1159.
21. Royle SJ, Bright NA, Lagnado L. Clathrin is required for the function of the mitotic spindle. Nature. 2005;434:1152-1157. (Pubitemid 40663496)
22. Zheng Y, Tsai MY. The mitotic spindle matrix: a fibro-membranous lamin connection. Cell Cycle. 2006;5:2345-2347. (Pubitemid 44785843)
23. Lee WL, Wadsworth P. New spindle morphogenesis model by Dynein, Nudel, and the spindle matrix. Cell Res. 2009;19:529-531.
24. Novak B, Kapuy O, Domingo-Sananes MR, Tyson JJ. Regulated protein kinases and phosphatases in cell cycle decisions. Curr Opin Cell Biol; 22:801-808.
25. Malumbres M, Barbacid M. Mammalian cyclin-dependent kinases. Trends Biochem Sci. 2005;30:630-641. (Pubitemid 41540083)
26. Montagnac G, Echard A, Chavrier P. Endocytic traffic in animal cell cytokinesis. Curr Opin Cell Biol. 2008;20:454-461.
27. Kariya K, Koyama S, Nakashima S, Oshiro T, Morinaka K, Kikuchi A. Regulation of complex formation of POB1/epsin/adaptor protein complex 2 by mitotic phosphorylation. J Biol Chem. 2000;275:18399-18406. (Pubitemid 30414797)
28. Chen H, Slepnev VI, Di Fiore PP, De Camilli P. The interaction of epsin and Eps15 with the clathrin adaptor AP-2 is inhibited by mitotic phosphorylation and enhanced by stimulation-dependent dephosphorylation in nerve terminals. J Biol Chem. 1999;274:3257-3260. (Pubitemid 29077157)
29. Zhang X, Chen Q, Feng J, Hou J, Yang F, Liu J, Jiang Q, Zhang C. Sequential phosphorylation of Nedd1 by Cdk1 and Plk1 is required for targeting of the gammaTuRC to the centrosome. J Cell Sci. 2009;122:2240-2251.
30. Blangy A, Arnaud L, Nigg EA. Phosphorylation by p34cdc2 protein kinase regulates binding of the kinesin-related motor HsEg5 to the dynactin subunit p150. J Biol Chem. 1997;272:19418-19424. (Pubitemid 27337739)
31. Johnson VL, Scott MI, Holt SV, Hussein D, Taylor SS. Bub1 is required for kinetochore localization of BubR1, Cenp-E, Cenp-F and Mad2, and chromosome congression. J Cell Sci. 2004;117:1577-1589. (Pubitemid 38559832)
32. Huang S, Risques RA, Martin GM, Rabinovitch PS, Oshima J. Accelerated telomere shortening and replicative senescence in human fibroblasts overexpressing mutant and wild-type lamin A. Exp Cell Res. 2008;314:82-91. (Pubitemid 350180776)
33. 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. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003;423:293-298. (Pubitemid 40852699)
34. Hayflick L, Moorhead PS. The serial cultivation of human diploid cell strains. Exp Cell Res. 1961;25:585-621.
35. Matsuoka S, Ballif BA, Smogorzewska A, McDonald ER III, Hurov KE, Luo J, Bakalarski CE, Zhao Z, Solimini N, Lerenthal Y, Shiloh Y, Gygi SP, Elledge SJ. ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage. Science. 2007;316:1160-1166. (Pubitemid 46877472)
36. Goldstein S, Singal DP. Senescence of cultured human fibroblasts: mitotic versus metabolic time. Exp Cell Res. 1974;88:359-364.
37. Prencipe M, McGoldrick A, Perry AS, O'Grady A, Phelan S, McGrogan B, Fitzpatrick P, Watson JA, Furlong F, Brennan DJ, Lawler M, Kay E, McCann A. MAD2 downregulation in hypoxia is independent of promoter hypermethylation. Cell Cycle; 9:2856-2865.
38. Maehara K, Takahashi K, Saitoh S. CENP-A reduction induces a p53-dependent cellular senescence response to protect cells from executing defective mitoses. Mol Cell Biol; 30:2090-2104.
39. Wang CY, Wen MS, Wang HW, Hsieh IC, Li Y, Liu PY, Lin FC, Liao JK. Increased vascular senescence and impaired endothelial progenitor cell function mediated by mutation of circadian gene Per2. Circulation. 2008;118:2166-2173.
40. Minamino T, Komuro I. Vascular cell senescence: contribution to atherosclerosis. Circ Res. 2007;100:15-26. (Pubitemid 46074968)
41. Naoumova RP, Neuwirth C, Lee P, Miller JP, Taylor KG, Soutar AK. Autosomal recessive hypercholesterolaemia: long-term follow up and response to treatment. Atherosclerosis. 2004;174:165-172. (Pubitemid 38595453)