Tumorigenesis as a consequence of genetic instability in Brca1 mutant mice

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 477, Issue 1-2, 2001, Pages 183-189

  Deng, Chu Xia ^a  

^a NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

Author keywords

Brca1, p53; Centrosome; G2 M checkpoint; Tumorigenesis

Indexed keywords

PROTEIN P53;

ANEUPLOIDY; APOPTOSIS; ARTICLE; BREAST CARCINOMA; BREAST EPITHELIUM; CARCINOGENESIS; CELL CYCLE G1 PHASE; CELL CYCLE G2 PHASE; CELL CYCLE S PHASE; CELL PROLIFERATION; CENTROSOME; CHROMOSOME SEGREGATION; EMBRYO DEATH; EXON; EXPERIMENTAL MOUSE; FIBROBLAST; GAMMA IRRADIATION; GENE DELETION; GENE MUTATION; GENE REPRESSION; GENETIC STABILITY; HYPERSENSITIVITY; MITOSIS; NONHUMAN; ONCOGENE; OVARY CARCINOMA; PRIORITY JOURNAL; SOMATIC MUTATION;

ANIMALS; BRCA1 PROTEIN; BREAST; CELL CYCLE; CELL TRANSFORMATION, NEOPLASTIC; FEMALE; GENE DELETION; GENES, BRCA1; GENES, P53; MAMMARY NEOPLASMS, EXPERIMENTAL; MICE; MUTATION; NEOPLASMS, EXPERIMENTAL;

ANIMALIA;

EID: 0035796028     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0027-5107(01)00119-1     Document Type: Article

References (58)

1. Hall J.M., Lee M.K., Newman B., Morrow J.E., Anderson L.A., Huey B., King M.C. Linkage of early-onset familial breast cancer to chromosome 17q21. Science. 250:1990;1684-1689.
2. Y. Miki, J. Swensen, D. Shattuck-Eidens, P.A. Futreal, K. Harshman, S. Tavtigian, Q. Liu, C. Cochran, L.M. Bennett, W. Ding, et al., A strong candidate for the breast and ovarian cancer susceptibility gene Brca1, Science 266 (1994) 66-71.
3. Alberg A.J., Helzlsouer K.J. Epidemiology, prevention, and early detection of breast cancer. Curr. Opin. Oncol. 9:1997;505-511.
4. Paterson J.W. Brca1: a review of structure and putative functions. Dis. Markers. 13:1998;261-274.
5. Bennett L.M., Haugen-Strano A., Cochran C., Brownlee H.A., Fiedorek F.T. Jr., Wiseman R.W. Isolation of the mouse homologue of Brca1 and genetic mapping to mouse chromosome 11. Genomics. 29:1995;576-581.
6. Marquis S.T., Rajan J.V., Wynshaw-Boris A., Xu J., Yin G.Y., Abel K.J., Weber B.L., Chodosh L.A. The developmental pattern of Brca1 expression implies a role in differentiation of the breast and other tissues. Nat. Genet. 11:1995;17-26.
7. Lane T.F., Deng C., Elson A., Lyu M.S., Kozak C.A., Leder P. Expression of Brca1 is associated with terminal differentiation of ectodermally and mesodermally derived tissues in mice. Genes Dev. 9:1995;2712-2722.
8. Jin Y., Xu X.L., Yang M.C., Wei F., Ayi T.C., Bowcock A.M., Baer R. Cell cycle-dependent colocalization of BARD1 and Brca1 proteins in discrete nuclear domains. Proc. Natl. Acad. Sci. USA. 94:1997;12075-12080.
9. Wu L.C., Wang Z.W., Tsan J.T., Spillman M.A., Phung A., Xu X.L., Yang M.C., Hwang L.Y., Bowcock A.M., Baer R. Identification of a RING protein that can interact in vivo with the Brca1 gene product. Nat. Genet. 14:1996;430-440.
10. 2-M cell cycle checkpoint induce genetic instability in Brca1 exon 11 isoform-deficient cells. Mol. Cell. 3:1999;389-395.
11. Xu X., Wagner K.U., Larson D., Weaver Z., Li C., Ried T., Hennighausen L., Wynshaw-Boris A., Deng C.X. Conditional mutation of Brca1 in mammary epithelial cells results in blunted ductal morphogenesis and tumor formation. Nat. Genet. 22:1999;37-43.
12. Ouchi T., Monteiro A.N., August A., Aaronson S.A., Hanafusa H. Brca1 regulates p53-dependent gene expression. Proc. Natl. Acad. Sci. USA. 95:1998;2302-2306.
13. Zhang H., Somasundaram K., Peng Y., Tian H., Zhang H., Bi D., Weber B.L., El-Deiry W.S. Brca1 physically associates with p53 and stimulates its transcriptional activity. Oncogene. 16:1998;1713-1721.
14. Chai Y.L., Cui J., Shao N., Shyam E., Reddy P., Rao V.N. The second BRCT domain of Brca1 proteins interacts with p53 and stimulates transcription from the p21WAF1/CIP1 promoter. Oncogene. 18:1999;263-268.
15. Chapman M.S., Verma I.M. Transcriptional activation by Brca1 (letter; comment). Nature. 382:1996;678-679.
16. Li S., Chen P.L., Subramanian T., Chinnadurai G., Tomlinson G., Osborne C.K., Sharp Z.D., Lee W.H. Binding of CtIP to the BRCT repeats of Brca1 involved in the transcription regulation of p21 is disrupted upon DNA damage. J. Biol. Chem. 274:1999;11334-11338.
17. Yu X., Wu L.C., Bowcock A.M., Aronheim A., Baer R. The C-terminal (BRCT) domains of Brca1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression. J. Biol. Chem. 273:1998;25388-25392.
18. Neish A.S., Anderson S.F., Schlegel B.P., Wei W., Parvin J.D. Factors associated with the mammalian RNA polymerase II holoenzyme. Nucleic Acids Res. 26:1998;847-853.
19. Somasundaram K., Zhang H., Zeng Y.X., Houvras Y., Peng Y., Zhang H., Wu G.S., Licht J.D., Weber B.L., El-Deiry W.S. Arrest of the cell cycle by the tumor-suppresser Brca1 requires the CDK-inhibitor p21WAF1/CiP1. Nature. 389:1997;187-190.
20. Fan S., Wang J., Yuan R., Ma Y., Meng Q., Erdos M.R., Pestell R.G., Yuan F., Auborn K.J., Goldberg I.D., Rosen E.M. Brca1 inhibition of estrogen receptor signaling in transfected cells. Science. 284:1999;1354-1356.
21. Harkin D.P., Bean J.M., Miklos D., Song Y.-H., Truong V.B., Englert C., Christians F.C., Ellisen L.W., Maheswaran S., Oliner J.D., Haber D.A. Induction of GADD45 and JNK/SAPK-dependent apoptosis following inducible expression of Brca1. Cell. 97:1999;575-586.
22. Scully R.C., Ochs R.L., Keegan K., Hoekstra M., Feunteun J., Livingston D.M. Dynamic changes of Brca1 subnuclear location and phosphorylation state are initiated by DNA damage. Cell. 90:1997;425-436.
23. Ogawa T., Shinohara A., Nabetani A., Ikeya T., Yu X., Egelman E.H., Ogawa H. RecA-like recombination proteins in eukaryotes: functions and structures of RAD51 genes. Cold Spring Harb. Symp. Quant. Biol. 58:1993;567-576.
24. Chen J., Silver D.P., Walpita D., Cantor S.B., Gazdar A.F., Tomlinson G., Couch F.J., Weber B.L., Ashley T., Livingston D.M., Scully R. Stable interaction between the products of the Brca1 and Brca2 tumor suppresser genes in mitotic and meiotic cells. Mol. Cell. 2:1998;317-328.
25. Zhong Q., Chen C.F., Li S., Chen Y., Wang C.C., Xiao J., Chen P.L., Sharp Z.D., Lee W.H. Association of Brca1 with the hRad50-hMre11-p95 complex and the DNA damage response. Science. 285:1999;747-750.
26. Petrini J.H. The mammalian Mre11-Rad50-nbs1 protein complex: integration of functions in the cellular DNA-damage response. Am. J. Hum. Genet. 64:1999;1264-1269.
27. Nairz K., Klein F. Mre11s - a yeast mutation that blocks double-strand-break processing and permits nonhomologous synopsis in meiosis. Genes Dev. 11:1997;2272-2290.
28. Gowen L.C., Avrutskaya A.V., Latour A.M., Koller B.H., Leadon S.A. Brca1 required for transcription-coupled repair of oxidative DNA damage. Science. 281:1998;1009-1012.
29. Wang H., Shao N., Ding Q.M., Cui J., Reddy E.S., Rao V.N. Brca1 proteins are transported to the nucleus in the absence of serum and splice variants Brca1a, Brca1b are tyrosine phosphoproteins that associate with E2F, cyclins and cyclin-dependent kinases. Oncogene. 15:1997;143-157.
30. Vaughn J.P., Davis P.L., Jarboe M.D., Huper G., Evans A.C., Wiseman R.W., Berchuck A., Iglehart J.D., Futreal P.A., Marks J.R. Brca1 expression is induced before DNA synthesis in both normal and tumor-derived breast cells. Cell Growth Differ. 7:1996;711-715.
31. Ruffner H., Verma I.M. Brca1 is a cell cycle-regulated nuclear phosphoprotein. Proc. Natl. Acad. Sci. USA. 94:1997;7138-7143.
32. Ludwig T., Chapman D.L., Papaioannou V.E., Efstratiadis A. Targeted mutations of breast cancer susceptibility gene homologs in mice: lethal phenotypes of Brca1, Brca2, Brca1/Brca2, Brca1/p53, and Brca2/p53 nullizygous embryos. Genes Dev. 11:1997;1226-1241.
33. Hakem R., de la Pompa J.L., Sirard C., Mo R., Woo M., Hakem A., Wakeham A., Potter J., Reitmair A., Billia F., Firpo E., Hui C.C., Roberts J., Rossant J., Mak T.W. The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse. Cell. 85:1996;1009-1023.
34. Liu C.Y., Flesken-Nikitin A., Li S., Zeng Y., Lee W.H. Inactivation of the mouse Brca1 gene leads to failure in the morphogenesis of the egg cylinder in early post-implantation development. Genes Dev. 10:1996;1835-1843.
35. Gowen L.C., Johnson B.L., Latour A.M., Sulik K.K., Koller B.H. Brca1 deficiency results in early embryonic lethality characterized by neuroepithelial abnormalities. Nat. Genet. 12:1996;191-194.
36. Shen S.X., Weaver Z., Xu X., Li C., Weinstein W., Guan X.Y., Ried T., Deng C.X. A targeted disruption of the murine Brca1 gene causes γ-radiation hypersensitivity and genetic instability. Oncogene. 17:1998;3115-3124.
37. Hakem R., de la Pompa J.L., Elia A., Potter J., Mak T.W. Partial rescue of Brca1 (5-6) early embryonic lethality by p53 or p21 null mutation. Nat. Genet. 16:1997;298-302.
38. Ritter M.A., Cleaver J.E., Tobias C.A. High-LET radiations induce a large proportion of non-rejoining DNA breaks. Nature. 266:1977;653-655.
39. Xu C.F., Brown M.A., Chambers J.A., Griffiths B., Nicolai H., Solomon E. Distinct transcription start sites generate two forms of Brca1 mRNA. Hum. Mol. Genet. 4:1995;2259-2264.
40. Thakur S., Zhang H.B., Peng Y., Le H., Carroll B., Ward T., Yao J., Farid L.M., Couch F.J., Wilson R.B., Weber B.L. Localization of Brca1 and a splice variant identifies the nuclear localization signal. Mol. Cell. Biol. 17:1997;444-452.
41. Cui J.Q., Shao N., Chai Y., Wang H., Reddy E.S., Rao V.N. Brca1 splice variants Brca1a and Brca1b associate with CBP co-activator. Oncol. Rep. 5:1998;591-595.
42. Cui J.Q., Wang H., Reddy E.S., Rao V.N. Differential transcriptional activation by the N-terminal region of Brca1 splice variants Brca1a and Brca1b. Oncol. Rep. 5:1998;585-589.
43. Wilson C.A., Payton M.N., Elliott G.S., Buaas F.W., Cajulis E.E., Grosshans D., Ramos L., Reese D.M., Slamon D.J., Calzone F.J. Differential subcellular localization, expression and biological toxicity of Brca1 and the splice variant Brca1-Δ11b. Oncogene. 14:1997;1-16.
44. Lu M., Conzen S.D., Cole C.N., Arrick B.A. Characterization of functional messenger RNA splice variants of Brca1 expressed in nonmalignant and tumor-derived breast cells. Cancer Res. 56:1996;4578-4581.
45. Pihan G.A., Purohit A., Wallace J., Knecht H., Woda B., Quesenberry P., Doxsey S.J. Centrosome defects and genetic instability in malignant tumors. Cancer Res. 58:1998;3974-3985.
46. Rudner A.D., Murray A.W. The spindle assembly checkpoint. Curr. Opin. Cell Biol. 8:1996;773-780.
47. Winey M. Keeping the centrosome cycle on track: genome stability. Curr. Biol. 6:1996;962-964.
48. Wagner K.U., Wall R.J., St-Onge L., Gruss P., Wynshaw-Boris A., Garrett L., Li M., Furth P.A., Hennighausen L. Cre-mediated gene deletion in the mammary gland. Nucleic Acids Res. 25:1997;4323-4330.
49. de Cremoux P., Salomon A.V., Liva S., Dendale R., Bouchind'homme B., Martin E., Sastre-Garau X., Magdelenat H., Fourquet A., Soussi T. p53 mutation as a genetic trait of typical medullary breast carcinoma. J. Natl. Cancer Inst. 91:1999;641-643.
50. Crook T., Crossland S., Crompton M.R., Osin P., Gusterson B.A. p53 mutations in Brca1-associated familial breast cancer. Lancet. 350:1997;638-639.
51. Crook T., Brooks L.A., Crossland S., Osin P., Barker K.T., Waller J., Philp E., Smith P.D., Yulug I., Peto J., Parker G., Allday M.J., Crompton M.R., Gusterson B.A. p53 mutation with frequent novel condons but not a mutator phenotype in Brca1- and Brca2-associated breast tumors. Oncogene. 17:1998;1681-1689.
52. Eisinger F., Jacquemier J., Guinebretiere J.M., Birnbaum D., Sobol H. p53 involvement in Brca1-associated breast cancer. Lancet. 350:1997;1101.
53. Cressman V.L., Backlund D.C., Hicks E.M., Gowen L.C., Godfrey V., Koller B.H. Mammary tumor formation in p53- and Brca1-deficient mice (in process citation). Cell Growth Differ. 10:1999;1-10.
54. Donehower L.A., Harvey M., Slagle B.L., McArthur M.J., Montgomery C.A. Jr., Butel J.S., Bradley A. Mice deficient for p53 are developmentally normal but susceptible to spontaneous tumours. Nature. 356:1992;215-221.
55. Easton D. Breast cancer genes - what are the real risks? Nat. Genet. 16:1997;210-211.
56. P.A. Futreal, Q. Liu, D. Shattuck-Eidens, C. Cochran, K. Harshman, S. Tavtigian, L.M. Bennett, A. Haugen-Strano, J. Swensen, Y. Miki, et al., Brca1 mutations in primary breast and ovarian carcinomas, Science 266 (1994) 120-122.
57. Struewing J.P., Hartge P., Wacholder S., Baker S.M., Berlin M., McAdams M., Timmerman M.M., Brody L.C., Tucker M.A. The risk of cancer associated with specific mutations of Brca1 and Brca2 among Ashkenazi Jews. N. Engl. J. Med. 336:1997;1401-1408.
58. Xu C.F., Solomon E. Mutations of the Brca1 gene in human cancer. Semin. Cancer Biol. 7:1996;33-40.