Identification of BRCA1-IRIS, a BRCA1 locus product

Nature Cell Biology

Volumn 6, Issue 10, 2004, Pages 954-967

  ElShamy, Wael M ^a   Livingston, David M ^a  

^a HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BRCA1 PROTEIN; DNA; GEMININ;

ARTICLE; BREAST CANCER; CANCER INCIDENCE; CANCER SUSCEPTIBILITY; CHROMATIN; CODON; CONTROLLED STUDY; DNA REPLICATION; GENE LOCUS; GENE MUTATION; GENE OVEREXPRESSION; GENE REPRESSION; HUMAN; HUMAN CELL; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; IN VITRO STUDY; IN VIVO STUDY; INTRON; OPEN READING FRAME; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN PROTEIN INTERACTION;

AMINO ACID SEQUENCE; ANTIBODIES, MONOCLONAL; BRCA1 PROTEIN; BREAST NEOPLASMS; CELLS, CULTURED; CHROMOSOMAL PROTEINS, NON-HISTONE; CODON; CONSERVED SEQUENCE; DNA REPLICATION; EPITHELIAL CELLS; EPITOPES; EXONS; FEMALE; GENE DELETION; GENES, BRCA1; HELA CELLS; HUMANS; MOLECULAR SEQUENCE DATA; OPEN READING FRAMES; PRECIPITIN TESTS; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 5444222008     PISSN: 14657392     EISSN: None     Source Type: Journal    
DOI: 10.1038/ncb1171     Document Type: Article

References (53)

1. Hill, A. D., Doyle, J. M., McDermott, E. W. & O'Higgins, N. J. Hereditary breast cancer. Br. J. Surg. 84, 1334-1339 (1997).
2. Miki, Y. et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 266, 66-71 (1994).
3. Smith, S. A., Easton, D. F., Evans, D. G. & Ponder, B. A. Allele losses in the region 17q12-21 in familial breast and ovarian cancer involve the wild-type chromosome. Nature Genet. 2, 128-131 (1992).
4. Rice, J. C., Ozcelik, H., Maxeiner, P., Andrulis, I. & Futscher, B. W. Methylation of the BRCA1 promoter is associated with decreased BRCA1 mRNA levels in clinical breast cancer specimens. Carcinogenesis 9, 1761-1765 (2000).
5. Chen, Y. et al. BRCA1 is a 220-kDa nuclear phosphoprotein that is expressed and phosphorylated in a cell cycle-dependent manner. Cancer Res. 56, 3168-3172 (1996).
6. Wilson, C. A. et al. Differential subcellular localization, expression and biological toxicity of BRCA1 and the splice variant BRCA1-Δ11b. Oncogene 14, 1-16 (1997).
7. Lee, E. Y. BRCA1 and Chk1 in G2/M checkpoint: a new order of regulation. Cell Cycle. 1, 178-180 (2002).
8. Deng, C. X. & Scott, F. Role of the tumor suppressor gene Brca1 in genetic stability and mammary gland tumor formation. Oncogene 19, 1059-1064 (2000).
9. Hakem, R. et al. The tumor suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse. Cell 85, 1009-1023 (1996).
10. Gudas, J. M. et al. Cell-cycle regulation of BRCA1 messenger RNA in human breast epithelial cells. Cell Growth Differ. 7, 717-723 (1996).
11. Chodosh, L. A. et al. Mammary gland development, reproductive history, and breast cancer risk. Cancer Res 59, 1765-1771s; discussion 1771s-1772s (1999).
12. Magdinier, F., Dalla Venezia, N., Lenoir, G. M., Frappart, L. & Dante, R. BRCA1 expression during prenatal development of the human mammary gland. Oncogene 18, 4039-4043 (1999).
13. Meza, J. E., Brzovic, P. S., King, M. C. & Klevit, R. E. Mapping the functional domains of BRCA1. Interaction of the ring finger domains of BRCA1 and BARD1. J. Biol. Chem. 274, 5659-5665 (1999).
14. Bochar D. A. et al. BRCA1 is associated with a human SWI/SNF-related complex: linking chromatin remodeling to breast cancer. Cell, 102, 257-265 (2000).
15. Yarden, R. I. & Brody, L. C. BRCA1 interacts with components of the histone deacetylase complex. Proc. Natl Acad. Sci. USA 96, 4983-4988 (1999).
16. Scully R. Dynamic changes of BRCA1 subnuclear location and phosphorylation state are initiated by DNA damage. Cell. 90, 425-435 (1997).
17. Cohen, S. M., Brylawski, B. P., Cordeiro-Stone, M. & Kaufman, D. G. Mapping of an origin of DNA replication near the transcriptional promoter of the human HPRTgene. J. Cell. Biochem. 85, 346-356 (2002).
18. Abdurashidova, G. et al. Start sites of bidirectional DNA synthesis at the human lamin B2 origin. Science. 287, 2023-2026 (2000).
19. Tao, L., Dong, Z., Leffak, M., Zannis-Hadjopoulos, M. & Price, G. Major DNA replication initiation sites in the c-Myc locus in human cells. J. Cell Biochem. 78, 442-457 (2000).
20. Yoon, Y., Sanchez, J. A., Brun, C. & Huberman, J. A. Mapping of replication initiation sites in human ribosomal DNA by nascent-strand abundance analysis. Mol. Cell. Biol. 15, 2482-2489 (1995).
21. Taira, T., Iguchi-Ariga, S. M. & Ariga, H. A novel DNA replication origin identified in the human heat shock protein 70 gene promoter. Mol, Cell. Biol. 14, 6386-6397 (1994).
22. Kamath, S. & Leffak, M. Multiple sites of replication initiation in the human β-globin gene locus. Nucleic Acids Res. 29, 809-817 (2001).
23. Avni, D. et al. Active localization of the retinoblastoma protein in chromatin and its response to S phase DNA damage. Mol. Cell 2, 735-746 (2003).
24. Roy, I. et al. Efficient translocation and apoptosis induction by adenovirus encoded VP22-p53 fusion protein in human tumor cells in vitro. Anticancer Res. 22, 3185-3189 (2002).
25. Zender, L. et al. Gene therapy by intrahepatic and intratumoral trafficking of p53-VP22 induces regression of liver tumors. Gastroenterology 123, 608-618 (2002).
26. Ebihara, K. et al. Intron retention generates a novel isoform of the murine vitamin D receptor that acts in a dominant-negative way on the vitamin D signaling pathway. Mol. Cell. Biol. 16, 3393-3400 (1996).
27. Solomon, D. et al. Cyclin D1 Splice Varients. Differential effects on localization, Rb phosphorylation, and cultural transformation. J. Biol. Chem. 278, 30339-30347 (2003).
28. Kolpakova, E., Rusten, T. E. & Olsnes, S. Characterization and tissue expression of acidic fibroblast growth factor binding protein homologue in Drosophila melanogaster. Gene 310, 185-191 (2003).
29. Burkhead, J. L., Abdel-Ghany, S. E., Morrill, J. M.,,Pilon-Smits, E. A. & Pilon, M. The Arabidopsis thatiana CUTA gene encodes an evolutionarily conserved copper binding chloroplast protein. Plant J. 34, 856-867 (2003).
30. van Doorn, R. et al. A novel splice variant of the Fasgene in patients with cutaneous T-cell lymphoma. Cancer Res. 62, 5389-5392 (2002).
31. Bloor, B. K., Rajarajan, A., Jaafary-Haghighat, K. & Odell, E. W. Transcription and expression of CD44 variant exons by oro-pharyngeal squamous cell carcinomas. Int. J. Oncol. 21, 907-913 (2002).
32. Le Hir, H., Charlet-Berguerand, N., de Franciscis, V. & Thermes, C. 5′-End RET splicing: absence of variants in normal tissues and intron retention in pheochromocytomas. Oncology. 63, 84-91 (2002).
33. Liu, J. W., Chandra, D., Tang, S. H., Chopra, D. & Tang, D. G. Identification and-characterization of Bimgamma, a novel proapoptotic BH3-only splice variant of Bim. Cancer Res. 62, 2976-2981 (2002).
34. Flowers, J. M., Powell, J. F., Leigh, P. N., Andersen, P. & Shaw, C. E. Intron 7 retention and exon 9 skipping EAAT2 mRNA variants are not associated with amyotrophic lateral sclerosis. Ann. Neurol. 49, 643-649 (2001).
35. Emmert, S., Schneider, T. D., Khan, S. G. & Kraemer, K. H. The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms. Nucleic Acids Res. 29, 1443-1452 (2001).
36. Lejeune, F., Cavaloc, Y. & Stevenin, J. Alternative splicing of intron 3 of the serine/arginine-rich protein 9G8 gene. Identification of flanking exonic splicing enhancers and involvement of 9G8 as a trans-acting factor. J. Biol. Chem. 276, 7850-7858 (2000).
37. Celebi, J. T., Wanner, M., Ping, X. L., Zhang, H. & Peacocke, M. Association of splicing defects in PTEN leading to exon skipping or partial intron retention in Cowden syndrome. Hum. Genet. 107, 234-238 (2000).
38. Lindahl, M., Timmusk, T., Rossi, J., Saarma, M. & Airaksinen, M. S. Expression and alternative splicing of mouse Gtra4 suggest roles in endocrine cell development. Mol. Cell. Neurosci. 15, 522-533 (2000).
39. Williams R, et al. Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. J. Biol. Chem. 278, 53007-53016 (2003).
40. Shao, N., Chai, Y. L., Shyam, E., Reddy, P. & Rao, V. N. Induction of apoptosis by the tumor suppressor protein BRCA1. Oncogene. 13, 1-7 (1996).
41. Holt, J. T. et al. Growth retardation and tumour inhibition by BRCA1. Nature Genet. 12, 298-302 (1996).
42. Gavin, K. A., Hidaka, M. & Stillman, B. Conserved initiator proteins in eukaryotes. Science. 270, 1667-1671 (1995).
43. Tada, S., et al. Repression of origin assembly in metaphase depends on inhibition of RLF-B/Cdt1 by geminin. Nature Cell Biol. 3, 107-113 (2001).
44. Wohlschlegel, J. A. et al. Inhibition of eukaryotic DNA replication by geminin binding to Cdt1. Science. 290, 2309-2312 (2000).
45. Tada, S., Li, A., Maiorano, D., Mechali, M., Blow, J. J. Repression of origin assembly in metaphase depends on inhibition of RLF-B/Cdt1 by geminin. Nature Cell Biol. 3, 107-113 (2001).
46. Bermejo, R., Vilaboa, N. & Cales, C. Regulation of CDC6, geminin, and CDT1 in human cells that undergo polyploidization. Mol. Biol. Cell 13, 3989-4000 (2002).
47. Hodgson, B., Li, A., Tada, S. & Blow, J. J. Geminin becomes activated as an inhibitor of Cdt1/RLF-B following nuclear import. Curr. Biol. 16, 678-683 (2002).
48. Magdinier, F., Ribieras, S., Lenoir, G. M., Frappart, L. & Dante, R. Down-regulation of BRCA1 in human sporadic breast cancer; analysis of DNA methylation patterns of the putative promoter region. Oncogene 17, 3169-3176 (1998).
49. Gayther, S. et al. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nature Genet. 11, 428-433 (1995).
50. Harlow, E. & Lane, D. Antibodies, a Laboratory Manual. (Cold Spring Harbor Laboratory, New York, 1988).
51. Xu, C. F. et al. Distinct transcription start sites generate two forms of BRCA1 mRNA. Hum. Mol. Genet. 4, 2259-2264 (1995).
52. Coffman F. D. et al. In vitro replication of plasmids containing human ribosomal gene sequence: Origin localization and dependence on an Aprotinin-binding cytosolic protein. Exp. Cell Res. 209, 123-132 (1993).
53. Zink, D. et al. Structure and dynamics of human interphase chromosome territories in vivo. Hum. Genet. 102, 241-251 (1998).