Loss of p53 sensitizes mice with a mutation in Ccm1 (KRIT1) to development of cerebral vascular malformations

American Journal of Pathology

Volumn 165, Issue 5, 2004, Pages 1509-1518

  Plummer, Nicholas W ^a   Gallione, Carol J ^a   Srinivasan, Sudha ^a   Zawistowski, Jon S ^a   Louis, David N ^b   Marchuk, Douglas A ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P53; TUMOR SUPPRESSOR PROTEIN;

ALLELE; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BRAIN; CEREBROVASCULAR MALFORMATION; CONTROLLED STUDY; DISEASE COURSE; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENOTYPE; HETEROZYGOSITY LOSS; MOUSE; NONHUMAN; PRIORITY JOURNAL; SOMATIC MUTATION; VASCULAR LESION; WILD TYPE;

EID: 7244251522     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9440(10)63409-8     Document Type: Article

References (32)

1. Zabramski JM, Henn JS, Coons S: Pathology of cerebral vascular malformations. Neurosurg Clin North Am 1999, 10:395-410
2. Moriarity JL, Clatterbuck RE, Rigamonti D: The natural history of cavernous malformations. Neurosurg Clin North Am 1999, 10:411-417
3. Eerola I, Plate KH, Spiegel R, Boon LM, Mulliken JB, Vikkula M: KRIT1 is mutated in hyperkeratotic cutaneous capillary-venous malformation associated with cerebral capillary malformation. Hum Mol Genet 2000, 9:1351-1355
4. Marchuk DA, Gallione CJ, Morrison LA, Clericuzio CL, Hart BL, Kosofsky BE, Louis DN, Gusella JF, Davis LE, Prenger VL: A locus for cerebral cavernous malformations maps to chromosome 7q in two families. Genomics 1995, 28:311-314
5. Dubovsky J, Zabramski JM, Kurth J, Spetzler RF, Rich SS, Orr HT, Weber JL: A gene responsible for cavernous malformations of the brain maps to chromosome 7q. Hum Mol Genet 1995, 4:453-458
6. Gunel M, Awad IA, Anson J, Lifton BP: Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21. Proc Natl Acad Sci USA 1995, 92:6620-6624
7. Craig H, Gunel M, Cepeda O, Johnson E, Ptacek L, Steinberg G, Ogilvy C, Berg M, Crawford S, Scott R, Steichen-Gersdorf E, Sabroe R, Kennedy C, Mettler G, Beis M, Fryer A, Awad I, Lifton R: Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation at 7p15-13 and 3q25.2-27. Hum Mol Genet 1998, 7:1851-1858
8. Laberge-le Couteulx S, Jung HH, Labauge P, Houtteville JP, Lescoat C, Cecillon M, Marechal E, Joutel A, Bach JF, Tournier-Lasserve E: Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet 1999, 23:189-193
9. Sahoo T, Johnson EW, Thomas JW, Kuehl PM, Jones TL, Dokken CG, Touchman JW, Gallione CJ, Lee-Lin SQ, Kosofsky B, Kurth JH, Louis DN, Mettler G, Morrison L, Gil-Nagel A, Rich SS, Zabramski JM, Boguski MS, Green ED, Marchuk DA: Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, cause cerebral cavernous malformations (CCM1). Hum Mol Genet 1999, 8:2325-2333
10. Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA: Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet 2003, 73:1459-1464
11. Denier C, Goutagny S, Labauge P, Krivosic V, Arnoult M, Cousin A, Benabid AL, Comoy J, Frerebeau P, Gilbert B, Houtteville JP, Jan M, Lapierre F, Loiseau H, Menei P, Mercier P, Moreau JJ, Nivelon-Chevallier A, Parker F, Redondo AM, Scarabin JM, Tremoulet M, Zerah M, Maciazek J, Tournier-Lasserve E: Mutations within the MGC4607 gene cause cerebral cavernous malformations. Am J Hum Genet 2004, 74:326-337
12. Zawistowski JS, Serebriiskii IG, Lee MF, Golemis EA, Marchuk DA: KRIT1 association with the integrin-binding protein ICAP-1: a new direction in the elucidation of cerebral cavernous malformations (CCM1) pathogenesis. Hum Mol Genet 2002, 11:389-396
13. Zhang J, Clatterbuck RE, Rigamonti D, Chang DD, Dietz HC: Interaction between krit1 and icap1α infers perturbation of integrin beta1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation. Hum Mol Genet 2001, 10:2953-2950
14. Cave-Riant F, Denier C, Labauge P, Cecillon M, Maciazek J, Joutel A, Laberge-Le Couteulx S, Tournier-Lasserve E: Spectrum and expression analysis of KRIT1 mutations in 121 consecutive and unrelated patients with cerebral cavernous malformations. Eur J Hum Genet 2002, 10:733-740
15. Laurans MS, DiLuna ML, Shin D, Niazi F, Voorhees JR, Nelson-Williams C, Johnson EW, Siegel AM, Steinberg GK, Berg MJ, Scott RM, Tedeschi G, Enevoldson TP, Anson J, Rouleau GA, Ogilvy C, Awad IA, Lifton RP, Gunel M: Mutational analysis of 206 families with cavernous malformations. J Neurosurg 2003, 99:38-43
16. Verlaan DJ, Siegel AM, Rouleau GA: Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation. Am J Hum Genet 2002, 70:1564-1567
17. Whitehead KJ, Plummer NW, Adams JA, Marchuk DA, Li DY: Ccm1 is required for arterial morphogenesis: implications for the etiology of human cavernous malformations. Development 2004, 131:1437-1448
18. Donehower LA, Harvey M, Slagle BL, McArthur MJ, Montgomery Jr CA, Butel JS, Bradley A: Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours. Nature 1992, 356:215-221
19. Jacks T, Remington L, Williams BO, Schmitt EM, Halachmi S, Bronson RT, Weinberg RA: Tumor spectrum analysis in p53-mutant mice. Curr Biol 1994, 4:1-7
20. Shao C, Deng L, Henegariu O, Liang L, Stambrook PJ, Tischfield JA: Chromosome instability contributes to loss of heterozygosity in mice lacking p53. Proc Natl Acad Sci USA 2000, 97:7405-7410
21. Hoya K, Asai A, Sasaki T, Kimura K, Kirino T: Expression of smooth muscle proteins in cavernous and arteriovenous malformations. Acta Neuropathol 2001, 102:257-263
22. Kilic T, Pamir MN, Kullu S, Eren F, Ozek MM, Black PM: Expression of structural proteins and angiogenic factors in cerebrovascular anomalies. Neurosurgery 2000, 46:1172-1191
23. Rothbart D, Awad IA, Lee J, Kim J, Harbaugh R, Criscuolo GR: Expression of angiogenic factors and structural proteins in central nervous system vascular malformations. Neurosurgery 1996, 38:915-924
24. Denier C, Gasc JM, Chapon F, Domenga V, Lescoat C, Joutel A, Tournier-Lasserve E: Krit1/cerebral cavernous malformation 1 mRNA is preferentially expressed in neurons and epithelial cells in embryo and adult. Mech Dev 2002, 117:363-367
25. Kehrer-Sawatzki H, Wilda M, Braun VM, Richter HP, Hameister H: Mutation and expression analysis of the KRIT1 gene associated with cerebral cavernous malformations (CCM1). Acta Neuropathol 2002, 104:231-240
26. Rigamonti D, Johnson PC, Spetzler RF, Hadley MN, Drayer BP: Cavernous malformations and capillary telangiectasia: a spectrum within a single pathological entity. Neurosurgery 1991, 28:60-64
27. Guzeloglu-Kayisli O, Amankulor NM, Voorhees J, Luleci G, Litton RP, Gunel M: KRIT1/cerebral cavernous malformation 1 protein localizes to vascular endothelium, astrocytes, and pyramidal cells of the adult human cerebral cortex. Neurosurgery 2004, 54:943-949
28. Degani S, Balzac F, Brancaccio M, Guazzone S, Retta SF, Silengo L, Eva A, Tarone G: The integrin cytoplasmic domain-associated protein ICAP-1 binds and regulates Rho family GTPases during cell spreading. J Cell Biol 2002, 156:377-388
29. Wernig F, Mayr M, Xu Q: Mechanical stretch-induced apoptosis in smooth muscle cells is mediated by β1-integrin signaling pathways Hypertension 2003, 41:903-911
30. Uhlik MT, Abell AN, Johnson NL, Sun W, Cuevas BD, Lobel-Rice KE, Horne EA, Dell'Acqua ML, Johnson GL: Rac-MEKK3-MKK3 scaffolding for p38 MAPK activation during hyperosmotic shock. Nat Cell Biol 2003, 5:1104-1110
31. Flocks JS, Weis TP, Kleinman DC, Kirsten WH: Dose-response studies to polyoma virus in rats. J Natl Cancer Inst 1965, 35:259-284
32. Qian W, Wiman KG: Polyoma virus middle T and small T antigens cooperate to antagonize p53-induced cell cycle arrest and apoptosis. Cell Growth Differ 2000, 11:31-39