Fanconi anemia signaling network regulates the spindle assembly checkpoint

Journal of Clinical Investigation

Volumn 123, Issue 9, 2013, Pages 3839-3847

  Nalepa, Grzegorz ^a   Enzor, Rikki ^a   Sun, Zejin ^a   Marchal, Christophe ^a   Park, Su Jung ^a   Yang, Yanzhu ^a   Tedeschi, Laura ^a   Kelich, Stephanie ^a   Hanenberg, Helmut ^a,b   Clapp, D Wade ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; ARTICLE; CELL DIFFERENTIATION; CHROMOSOME SEGREGATION; CONTROLLED STUDY; FANCONI ANEMIA; HUMAN; HUMAN CELL; M PHASE CELL CYCLE CHECKPOINT; MALIGNANT TRANSFORMATION; MITOSIS; PRIORITY JOURNAL; PROTEIN LOCALIZATION; REGULATORY MECHANISM; RNA INTERFERENCE; SIGNAL TRANSDUCTION; CELL NUCLEUS; CENTROSOME; FIBROBLAST; GENE SILENCING; GENETICS; HELA CELL LINE; METABOLISM; PATHOLOGY; PHYSIOLOGY; SPINDLE APPARATUS;

ANTIGEN; FANCONI ANEMIA PROTEIN; PERICENTRIN; SMALL INTERFERING RNA;

ANTIGENS; CELL NUCLEUS; CENTROSOME; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP PROTEINS; FIBROBLASTS; GENE KNOCKDOWN TECHNIQUES; HELA CELLS; HUMANS; M PHASE CELL CYCLE CHECKPOINTS; MITOSIS; RNA INTERFERENCE; RNA, SMALL INTERFERING; SIGNAL TRANSDUCTION; SPINDLE APPARATUS;

EID: 84883529822     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI67364     Document Type: Article

References (43)

1. D'Andrea AD. The Fanconi road to cancer. Genes Dev. 2003;17(16):1933- 1936. (Pubitemid 36999320)
2. D'Andrea AD. Susceptibility pathways in Fanconi's anemia and breast cancer. N Engl J Med. 2010;362(20):1909-1919.
3. de Winter JP, Joenje H. The genetic and molecular basis of Fanconi anemia. Mutat Res. 2009;668(1-2):11-19.
4. Alter BP, et al. Malignancies and survival patterns in the National Cancer Institute inherited bone marrow failure syndromes cohort study. Br J Haematol. 2010;150(2):179-188.
5. Crossan GP, Patel KJ. The Fanconi anaemia pathway orchestrates incisions at sites of crosslinked DNA. J Pathol. 2012;226(2):326-337.
6. Meindl A, et al. Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene. Nat Genet. 2010;42(5):410-414.
7. Rahman N, et al. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007;39(2):165-167. (Pubitemid 46184346)
8. Reid S, et al. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet. 2007;39(2):162-164. (Pubitemid 46184345)
9. Seal S, et al. Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles. Nat Genet. 2006;38(11):1239-1241. (Pubitemid 44646283)
10. Jones S, et al. Exomic sequencing identifies PALB2 as a pancreatic cancer susceptibility gene. Science. 2009;324(5924):217.
11. Pennington KP, Swisher EM. Hereditary ovarian cancer: beyond the usual suspects. Gynecol Oncol. 2012;124(2):347-353.
12. Turnbull C, Rahman N. Genetic predisposition to breast cancer: past, present, and future. Annu Rev Genomics Hum Genet. 2008;9:321-345.
13. Berger R, Le Coniat M, Schaison G. Chromosome abnormalities in bone marrow of Fanconi anemia patients. Cancer Genet Cytogenet. 1993;65(1):47-50. (Pubitemid 23070706)
14. Mehta PA, et al. Numerical chromosomal changes and risk of development of myelodysplastic syndrome - acute myeloid leukemia in patients with Fanconi anemia. Cancer Genet Cytogenet. 2010;203(2):180-186.
15. Tutt A, et al. Absence of Brca2 causes genome instability by chromosome breakage and loss associated with centrosome amplification. Curr Biol. 1999;9(19):1107-1110. (Pubitemid 29504480)
16. Kim H, D'Andrea AD. Regulation of DNA crosslink repair by the Fanconi anemia/BRCA pathway. Genes Dev. 2012;26(13):1393-1408.
17. Lara-Gonzalez P, Westhorpe FG, Taylor SS. The spindle assembly checkpoint. Curr Biol. 2012;22(22):R966-R980.
18. Musacchio A, Salmon ED. The spindle-assembly checkpoint in space and time. Nat Rev Mol Cell Biol. 2007;8(5):379-393. (Pubitemid 46643240)
19. Chan KL, Palmai-Pallag T, Ying S, Hickson ID. Replication stress induces sister-chromatid bridging at fragile site loci in mitosis. Nat Cell Biol. 2009;11(6):753-760.
20. Naim V, Rosselli F. The FANC pathway and BLM collaborate during mitosis to prevent micro-nucleation and chromosome abnormalities. Nat Cell Biol. 2009;11(6):761-768.
21. Berger R, Bernheim A, Le Coniat M, Vecchione D, Schaison G. Chromosomal studies of leukemic and preleukemic Fanconii's anemia patients: examples of acquired 'chromosomal amplification.' Hum Genet. 1980;56(1):59-62. (Pubitemid 10016512)
22. Willingale-Theune J, Schweiger M, Hirsch-Kauffmann M, Meek AE, Paulin-Levasseur M, Traub P. Ultrastructure of Fanconi anemia fibroblasts. J Cell Sci. 1989;93(pt 4):651-665. (Pubitemid 19221802)
23. Maluf SW, Erdtmann B. Genomic instability in Down syndrome and Fanconi anemia assessed by micronucleus analysis and single-cell gel electrophoresis. Cancer Genet Cytogenet. 2001;124(1):71-75. (Pubitemid 32101473)
24. Pulliam-Leath AC, et al. Genetic disruption of both Fancc and Fancg in mice recapitulates the hematopoietic manifestations of Fanconi anemia. Blood. 2010;116(16):2915-2920.
25. Nalepa G, et al. The tumor suppressor CDKN3 controls mitosis. J Cell Biol. 2013;201(7):997-1012.
26. Stegmeier F, et al. Anaphase initiation is regulated by antagonistic ubiquitination and deubiquitination activities. Nature. 2007;446(7138):876-881.
27. Sigoillot FD, et al. A bioinformatics method identifies prominent off-targeted transcripts in RNAi screens. Nat Methods. 2012;9(4):363-366.
28. Rosenberg PS, Greene MH, Alter BP. Cancer incidence in persons with Fanconi anemia. Blood. 2003;101(3):822-826. (Pubitemid 36139345)
29. Ganem NJ, Godinho SA, Pellman D. A mechanism linking extra centrosomes to chromosomal instability. Nature. 2009;460(7252):278-282.
30. Vinciguerra P, Godinho SA, Parmar K, Pellman D, D'Andrea AD. Cytokinesis failure occurs in Fanconi anemia pathway-deficient murine and human bone marrow hematopoietic cells. J Clin Invest. 2010;120(11):3834-3842.
31. Gordon DJ, Resio B, Pellman D. Causes and consequences of aneuploidy in cancer. Nat Rev Genet. 2012;13(3):189-203.
32. Kupfer GM, Yamashita T, Naf D, Suliman A, Asano S, D'Andrea AD. The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2. Blood. 1997;90(3):1047-1054. (Pubitemid 27314139)
33. Mi J, et al. FANCG is phosphorylated at serines 383 and 387 during mitosis. Mol Cell Biol. 2004;24(19):8576-8585. (Pubitemid 39245078)
34. D'Angiolella V, Mari C, Nocera D, Rametti L, Grieco D. The spindle checkpoint requires cyclin-dependent kinase activity. Genes Dev. 2003;17(20):2520-2525. (Pubitemid 37271422)
35. Lee H, et al. Mitotic checkpoint inactivation fosters transformation in cells lacking the breast cancer susceptibility gene, Brca2. Mol Cell. 1999;4(1):1-10. (Pubitemid 29386126)
36. Crasta K, et al. DNA breaks and chromosome pulverization from errors in mitosis. Nature. 2012;482(7383):53-58.
37. Stephens PJ, et al. Massive genomic rearrangement acquired in a single catastrophic event during cancer development. Cell. 2011;144(1):27-40.
38. Cai S, O'Connell CB, Khodjakov A, Walczak CE. Chromosome congression in the absence of kinetochore fibres. Nat Cell Biol. 2009;11(7):832-838.
39. Cai S, Weaver LN, Ems-McClung SC, Walczak CE. Proper organization of microtubule minus ends is needed for midzone stability and cytokinesis. Curr Biol. 2010;20(9):880-885.
40. Vaz F, et al. Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet. 2010;42(5):406-409.
41. Antonio Casado J, et al. A comprehensive strategy for the subtyping of patients with Fanconi anaemia: conclusions from the Spanish Fanconi Anemia Research Network. J Med Genet. 2007;44(4):241-249.
42. de Winter JP, et al. The Fanconi anaemia gene FANCF encodes a novel protein with homology to ROM. Nat Genet. 2000;24(1):15-16.
43. Grompe M, D'Andrea A. Fanconi anemia and DNA repair. Hum Mol Genet. 2001;10(20):2253-2259. (Pubitemid 32998839)