P53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes

Journal of Clinical Investigation

Volumn 123, Issue 3, 2013, Pages 1335-1342

  Prodosmo, Andrea ^a   De Amicis, Andrea ^b   Nisticò, Cecilia ^a   Gabriele, Mario ^c   Di Rocco, Giuliana ^a   Monteonofrio, Laura ^a   Piane, Maria ^b   Cundari, Enrico ^c   Chessa, Luciana ^b   Soddu, Silvia ^a  

^a REGINA ELENA NATIONAL CANCER INSTITUTE   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

MRE11 PROTEIN; NIBRIN; PROTEIN P53;

ARTICLE; ATAXIA TELANGIECTASIA; BREAST CANCER; CELL IMMORTALIZATION; CELL PROLIFERATION; CENTROSOME; CONTROLLED STUDY; DNA POLYMORPHISM; GENE AMPLIFICATION; GENE DELETION; GENE INSERTION; GENOMIC INSTABILITY; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; LYMPHOBLAST; MISSENSE MUTATION; MITOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION;

ADULT; AGED; ATAXIA TELANGIECTASIA; BASE SEQUENCE; CASE-CONTROL STUDIES; CELL CYCLE PROTEINS; CELLS, CULTURED; CENTROSOME; DIAGNOSIS, DIFFERENTIAL; DNA-BINDING PROTEINS; GENOTYPING TECHNIQUES; HETEROZYGOTE; HUMANS; LEUKOCYTES, MONONUCLEAR; MICROSCOPY, FLUORESCENCE; MIDDLE AGED; MITOSIS; MOLECULAR DIAGNOSTIC TECHNIQUES; MUTATION, MISSENSE; PROTEIN-SERINE-THREONINE KINASES; SEQUENCE ANALYSIS, DNA; TUMOR SUPPRESSOR PROTEIN P53; TUMOR SUPPRESSOR PROTEINS;

EID: 84874603408     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI67289     Document Type: Article

References (36)

1. Gatti RA, Boder E, Vinters HV, Sparkes RS, Norman A, Lange K. Ataxia-telangiectasia: an interdisciplinary approach to pathogenesis. Medicine (Baltimore). 1991;70(2):99-117.
2. Su Y, Swift M. Mortality rates among carriers of ataxia-telangiectasia mutant alleles. Ann Intern Med. 2000;133(10):770-778.
3. Perlman S, Becker-Catania S, Gatti RA. Ataxia-telangiectasia: diagnosis and treatment. Semin Pediatr Neurol. 2003;10(3):173-182. (Pubitemid 37414093)
4. Lavin MF. Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer. Nat Rev Mol Cell Biol. 2008;9(10):759-769.
5. Derheimer FA, Kastan MB. Multiple roles of ATM in monitoring and maintaining DNA integrity. FEBS Lett. 2010;584(17):3675-3681.
6. Bensimon A, Aebersold R, Shiloh Y. Beyond ATM: the protein kinase landscape of the DNA damage response. FEBS Lett. 2011;585(11):1625-1639.
7. McKinnon PJ. ATM and the molecular pathogenesis of ataxia telangiectasia. Annu Rev Pathol. 2012;7:303-321.
8. Uziel T, et al. Genomic organization of the ATM gene. Genomics. 1996;33(2):317-320. (Pubitemid 26132132)
9. Concannon P, Gatti RA. Diversity of ATM gene mutations detected in patients with ataxia-telangiectasia. Hum Mutat. 1997;10(2):100-107. (Pubitemid 27327484)
10. Mitui M, et al. Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate. Hum Mutat. 2003;22(1):43-50. (Pubitemid 36807771)
11. Swift M, Morrell D, Cromartie E, Chamberlin AR, Skolnick MH, Bishop DT. The incidence and gene frequency of ataxia-telangiectasia in the United States. Am J Hum Genet. 1986;39(5):573-583. (Pubitemid 17071140)
12. Chessa L, Lisa A, Fiorani O, Zei G. Ataxia-telangiectasia in Italy: genetic analysis. Int J Radiat Biol. 1994;66(6 suppl):S31-S33.
13. Tavtigian SV, et al. Rare, evolutionarily unlikely missense substitutions in ATM confer increased risk of breast cancer. Am J Hum Genet. 2009; 85(4):427-446.
14. Henderson L, et al. Diagnosis of ataxia-telangiectasia by T-lymphocyte cloning assay. Lancet. 1985;2(8466):1242. (Pubitemid 16203863)
15. Huo YK, et al. Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay. Cancer Res. 1994;54(10):2544-2547. (Pubitemid 24173733)
16. Sun X, et al. Early diagnosis of ataxia-telangiectasia using radiosensitivity testing. J Pediatr. 2002;140(6):724-731. (Pubitemid 34666692)
17. Chun HH, et al. Improved diagnostic testing for ataxia-telangiectasia by immunoblotting of nuclear lysates for ATM protein expression. Mol Genet Metab. 2003;80(4):437-443. (Pubitemid 37491205)
18. Du L, Lai CH, Concannon P, Gatti RA. Rapid screen for truncating ATM mutations by PTTELISA. Mutat Res. 2008;640(1-2):139-144.
19. Porcedda P, et al. A rapid flow cytometry test based on histone H2AX phosphorylation for the sensitive and specific diagnosis of ataxia telangiectasia. Cytometry A. 2008;73(6):508-516. (Pubitemid 351812848)
20. Honda M, Takagi M, Chessa L, Morio T, Mizuatni S. Rapid diagnosis of ataxia-telangiectasia by flow cytometric monitoring of DNA damage-dependent ATM phosphorylation. Leukemia. 2009;23(2):409-414.
21. Nahas SA, Butch AW, Du L, Gatti RA. Rapid flow cytometry-based structural maintenance of chromosomes 1 (SMC1) phosphorylation assay for identification of ataxia-telangiectasia homozygotes and heterozygotes. Clin Chem. 2009;55(3):463-472.
22. Ciciarello M, et al. p53 displacement from centrosomes and p53-mediated G1 arrest following transient inhibition of the mitotic spindle. J Biol Chem. 2001;276(22):19205-19213.
23. Tritarelli A, et al. p53 localization at centrosomes during mitosis and postmitotic checkpoint are ATM-dependent and require serine 15 phosphorylation. Mol Biol Cell. 2004;15(8):3751-3757. (Pubitemid 38989712)
24. Oricchio E, Saladino C, Iacovelli S, Soddu S, Cundari E. ATM is activated by default in mitosis, localizes at centrosomes and monitors mitotic spindle integrity. Cell Cycle. 2006;5(1):88-92.
25. Doxsey S, Zimmerman W, Mikule K. Centrosome control of the cell cycle. Trends Cell Biol. 2005;15(6):303-311. (Pubitemid 40805326)
26. Fukasawa K. Oncogenes and tumour suppressors take on centrosomes. Nat Rev Cancer. 2007;7(12):911-924. (Pubitemid 350165854)
27. Fukasawa K. p53, cyclin-dependent kinase and abnormal amplification of centrosomes. Biochim Biophys Acta. 2008;1786(1):15-23.
28. Ammazzalorso F, Pirzio LM, Bignami M, Franchitto A, Pichierri P. ATR and ATM differently regulate WRN to prevent DSBs at stalled replication forks and promote replication fork recovery. EMBO J. 2010;29(18):3156-3169.
29. Revenkova E, et al. Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Hum Mol Genet. 2009;18(3):418-427.
30. Thompson D, et al. Cancer risks and mortality in heterozygous ATM mutation carriers. J Natl Cancer Inst. 2005;97(11):813-822. (Pubitemid 40909124)
31. Renwick A, et al. ATM mutations that cause ataxia-telangiectasia are breast cancer susceptibility alleles. Nat genet. 2006;38(8):873-875. (Pubitemid 44141653)
32. Stredrick DL, et al. The ATM missense mutation p.Ser49Cys (c.146C>G) and the risk of breast cancer. Hum Mutat. 2006;27(6):538-544. (Pubitemid 43865726)
33. Meier M, et al. Relation between genetic variants of the ataxia telangiectasia-mutated (ATM) gene, drug resistance, clinical outcome and predisposition to childhood T-lineage acute lymphoblastic leukaemia. Leukemia. 2005;19(11):1887-1895. (Pubitemid 41553996)
34. Narod SA. BRCA mutations in the management of breast cancer: the state of the art. Nat Rev Clin Oncol. 2010;7(12):702-707.
35. Taylor AM, Harnden DG, Arlett CF, Harcourt SA, Lehmann AR, Stevens S. Ataxia telangiectasia: a human mutation with abnormal radiation sensitivity. Nature. 1975;258(5534):427-429.
36. Magliozzi M, et al. DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: fourteen novel ATM mutations. Dis Markers. 2006;22(4):257-264. (Pubitemid 44763278)