Identification and functional analysis of novel BRCA1 transcripts, including mouse Brca1-Iris and human pseudo-BRCA1

Breast Cancer Research and Treatment

Volumn 119, Issue 1, 2010, Pages 239-247

  Pettigrew, Christopher A ^a   French, Juliet D ^a   Saunus, Jodi M ^a   Edwards, Stacey L ^a   Sauer, Aisha V ^a   Smart, Chanel E ^a   Lundström, Therese ^a   Wiesner, Christiane ^a   Spurdle, Amanda B ^b   Rothnagel, Joseph A ^a   Brown, Melissa A ^a  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

BRCA1; Brca1; Brca1 Iris; Pseudogene; Splice variant

Indexed keywords

BRCA1 DELTA22 PROTEIN; BRCA1 IRIS PROTEIN; BRCA1 PROTEIN; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BREAST EPITHELIUM; CELL DIFFERENTIATION; CELL SURVIVAL; CONTROLLED STUDY; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HUMAN; HUMAN CELL; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PSEUDOGENE; TRANSCRIPTION INITIATION;

ALTERNATIVE SPLICING; ANIMALS; BRCA1 PROTEIN; CELL DIFFERENTIATION; EPITHELIAL CELLS; GENE EXPRESSION REGULATION, NEOPLASTIC; GENES, BRCA1; GENETIC TECHNIQUES; HELA CELLS; HUMANS; MAMMARY GLANDS, ANIMAL; MICE; PSEUDOGENES; RNA, MESSENGER;

EID: 72449165565     PISSN: 01676806     EISSN: 15737217     Source Type: Journal    
DOI: 10.1007/s10549-008-0256-2     Document Type: Article

References (30)

1. P Carninci T Kasukawa S Katayama J Gough MC Frith N Maeda R Oyama T Ravasi B Lenhard C Wells, et al. 2005 The transcriptional landscape of the mammalian genome Science 309 5740 1559 1563 10.1126/science.1112014 10.1126/science.1112014 1:CAS:528:DC%2BD2MXpsFWju7o%3D 16141072 (Pubitemid 41266481)
2. DL Black 2003 Mechanisms of alternative pre-messenger RNA splicing Annu Rev Biochem 72 291 336 10.1146/annurev.biochem.72.121801.161720 10.1146/annurev.biochem.72.121801.161720 1:CAS:528:DC%2BD3sXntFSgtLg%3D 12626338 (Pubitemid 36930448)
3. JF Caceres AR Kornblihtt 2002 Alternative splicing: multiple control mechanisms and involvement in human disease Trends Genet 18 4 186 193 10.1016/S0168-9525(01)02626-9 10.1016/S0168-9525(01)02626-9 1:CAS:528: DC%2BD38XisV2htb0%3D 11932019 (Pubitemid 34273739)
4. CA Pettigrew MA Brown 2008 Pre-mRNA splicing aberrations and cancer Front Biosci 13 1090 1105 10.2741/2747 10.2741/2747 1:CAS:528:DC%2BD1cXhs1Chu7w%3D 17981615 (Pubitemid 351594751)
5. Y Yano R Saito N Yoshida A Yoshiki A Wynshaw-Boris M Tomita S Hirotsune 2004 A new role for expressed pseudogenes as ncRNA: regulation of mRNA stability of its homologous coding gene J Mol Med 82 7 414 422 10.1007/s00109-004-0550-3 10.1007/s00109-004-0550-3 1:CAS:528:DC%2BD2cXlsVCqsL4%3D 15148580
6. EM Rosen S Fan RG Pestell ID Goldberg 2003 BRCA1 gene in breast cancer J Cell Physiol 196 1 19 41 10.1136/mp.56.4.191 10.1002/jcp.10257 1:CAS:528:DC%2BD3sXksFehtr0%3D 12767038 (Pubitemid 36981151)
7. TI Orban E Olah 2003 Emerging roles of BRCA1 alternative splicing Mol Pathol 56 4 191 197 10.1136/mp.56.4.191 10.1136/mp.56.4.191 1:CAS:528: DC%2BD3sXnt12ns7g%3D 12890739 (Pubitemid 36981151)
8. M Mixon F Kittrell D Medina 2000 Expression of Brca1 and splice variant Brca1delta11 RNA levels in mouse mammary gland during normal development and tumourigenesis Oncogene 19 46 5237 5243 10.1038/sj.onc.1203905 10.1038/sj.onc.1203905 1:CAS:528:DC%2BD3cXosVOitr8%3D 11077440
9. WM ElShamy DM Livingston 2004 Identification of BRCA1-IRIS, a BRCA1 locus product Nat Cell Biol 6 10 954 967 10.1038/ncb1171 10.1038/ncb1171 1:CAS:528:DC%2BD2cXnvFGqs74%3D 15448696 (Pubitemid 39359848)
10. E Nakuci S Mahner J Direnzo WM ElShamy 2006 BRCA1-IRIS regulates cyclin D1 expression in breast cancer cells Exp Cell Res 312 16 3120 3131 10.1016/j.yexcr.2006.06.021 10.1016/j.yexcr.2006.06.021 1:CAS:528: DC%2BD28XptFSqur0%3D 16860316 (Pubitemid 44292663)
11. KJ Abel J Xu GY Yin RH Lyons MH Meisler BL Weber 1995 Mouse Brca1: localization sequence analysis and identification of evolutionarily conserved domains Hum Mol Genet 4 12 2265 2273 10.1093/hmg/4.12.2265 10.1093/hmg/4.12.2265 1:CAS:528:DyaK2MXpvFertbk%3D 8634697
12. SK Sharan M Wims A Bradley 1995 Murine Brca1: sequence and significance for human missense mutations Hum Mol Genet 4 12 2275 2278 10.1093/hmg/4.12.2275 10.1093/hmg/4.12.2275 1:CAS:528:DyaK2MXpvFertbY%3D 8634698
13. R Hakem JL de la Pompa C Sirard R Mo M Woo A Hakem A Wakeham J Potter A Reitmair F Billia, et al. 1996 The tumour suppressor gene Brca1 is required for embryonic cellular proliferation in the mouse Cell 85 7 1009 1023 10.1016/S0092-8674(00)81302-1 10.1016/S0092-8674(00)81302-1 1:CAS:528: DyaK28XjvF2iu74%3D 8674108 (Pubitemid 26231168)
14. S Dimitrov M Brennerova J Forejt 2001 Expression profiles and intergenic structure of head-to-head oriented Brca1 and Nbr1 genes Gene 262 1-2 89 98 10.1016/S0378-1119(00)00549-7 10.1016/S0378-1119(00)00549-7 1:CAS:528: DC%2BD3MXhtV2ltb0%3D 11179671 (Pubitemid 32155338)
15. JT Mendell HC Dietz 2001 When the message goes awry: disease-producing mutations that influence mRNA content and performance Cell 107 4 411 414 10.1016/S0092-8674(01)00583-9 10.1016/S0092-8674(01)00583-9 1:CAS:528: DC%2BD3MXovVCnsr0%3D 11719181 (Pubitemid 33152776)
16. J Debnath SK Muthuswamy JS Brugge 2003 Morphogenesis and oncogenesis of MCF-10A mammary epithelial acini grown in three-dimensional basement membrane cultures Methods 30 3 256 268 10.1016/S1046-2023(03)00032-X 10.1016/S1046- 2023(03)00032-X 1:CAS:528:DC%2BD3sXkt1OqurY%3D 12798140 (Pubitemid 36677560)
17. MJ Naylor SR Oakes M Gardiner-Garden J Harris K Blazek TW Ho FC Li D Wynick AM Walker CJ Ormandy 2005 Transcriptional changes underlying the secretory activation phase of mammary gland development Mol Endocrinol 19 7 1868 1883 10.1210/me.2004-0254 10.1210/me.2004-0254 1:CAS:528:DC%2BD2MXlvFSku78%3D 15705664 (Pubitemid 41007898)
18. EY Sum B Peng X Yu J Chen J Byrne GJ Lindeman JE Visvader 2002 The LIM domain protein LMO4 interacts with the cofactor CtIP and the tumour suppressor BRCA1 and inhibits BRCA1 activity J Biol Chem 277 10 7849 7856 10.1074/jbc.M110603200 10.1074/jbc.M110603200 1:CAS:528:DC%2BD38XitFynu7Y%3D 11751867 (Pubitemid 34968233)
19. CF Xu JA Chambers E Solomon 1997 Complex regulation of the BRCA1 gene J Biol Chem 272 34 20994 20997 10.1074/jbc.272.34.20994 10.1074/jbc.272.34.20994 1:CAS:528:DyaK2sXls1Ojsb8%3D 9261099 (Pubitemid 27373954)
20. JM Saunus SL Edwards JD French CE Smart MA Brown 2007 Regulation of BRCA1 messenger RNA stability in human epithelial cell lines and during cell cycle progression FEBS Lett 581 18 3435 3442 10.1016/j.febslet.2007.06.046 10.1016/j.febslet.2007.06.046 1:CAS:528:DC%2BD2sXnslWgtrg%3D 17612526 (Pubitemid 47048189)
21. WS Pear GP Nolan ML Scott D Baltimore 1993 Production of high-titre helper-free retroviruses by transient transfection Proc Natl Acad Sci USA 90 18 8392 8396 10.1073/pnas.90.18.8392 10.1073/pnas.90.18.8392 1:CAS:528: DyaK3sXms1eks70%3D 7690960
22. YL Chai J Cui N Shao E Shyam P Reddy VN Rao 1999 The second BRCT domain of BRCA1 proteins interacts with p53 and stimulates transcription from the p21WAF1/CIP1 promoter Oncogene 18 1 263 268 10.1038/sj.onc.1202323 10.1038/sj.onc.1202323 1:CAS:528:DyaK1MXhtVCmtL0%3D 9926942 (Pubitemid 29060601)
23. MA Brown CF Xu H Nicolai B Griffiths JA Chambers D Black E Solomon 1996 The 5′ end of the BRCA1 gene lies within a duplicated region of human chromosome 17q21 Oncogene 12 12 2507 2513 1:CAS:528:DyaK28XktlKltrY%3D 8700509
24. B Evers J Jonkers 2006 Mouse models of BRCA1 and BRCA2 deficiency: past lessons, current understanding and future prospects Oncogene 25 43 5885 5897 10.1038/sj.onc.1209871 10.1038/sj.onc.1209871 1:CAS:528:DC%2BD28XhtVSgurvL 16998503 (Pubitemid 44453444)
25. P Hohenstein MF Kielman C Breukel LM Bennett R Wiseman P Krimpenfort C Cornelisse GJ van Ommen P Devilee R Fodde 2001 A targeted mouse Brca1 mutation removing the last BRCT repeat results in apoptosis and embryonic lethality at the headfold stage Oncogene 20 20 2544 2550 10.1038/sj.onc.1204363 10.1038/sj.onc.1204363 1:CAS:528:DC%2BD3MXjvFGmtL8%3D 11420664 (Pubitemid 32531351)
26. SF Anderson BP Schlegel T Nakajima ES Wolpin JD Parvin 1998 BRCA1 protein is linked to the RNA polymerase II holoenzyme complex via RNA helicase A Nat Genet 19 3 254 256 10.1038/930 10.1038/930 1:CAS:528:DyaK1cXls1SnsL4%3D 9662397 (Pubitemid 28309336)
27. WW Au BR Henderson 2005 The BRCA1 RING and BRCT domains cooperate in targeting BRCA1 to ionizing radiation-induced nuclear foci J Biol Chem 280 8 6993 7001 10.1074/jbc.M408879200 10.1074/jbc.M408879200 1:CAS:528: DC%2BD2MXhsV2qtbo%3D 15569676 (Pubitemid 40341255)
28. PK Lovelock S Healey W Au EY Sum A Tesoriero EM Wong S Hinson R Brinkworth A Bekessy O Diez, et al. 2006 Genetic, functional, and histopathological evaluation of two C-terminal BRCA1 missense variants J Med Genet 43 1 74 83 10.1136/jmg.2005.033258 10.1136/jmg.2005.033258 1:CAS:528:DC%2BD28XhtF2hs78%3D 15923272 (Pubitemid 43102586)
29. PK Lovelock AB Spurdle MT Mok DJ Farrugia SR Lakhani S Healey S Arnold D Buchanan FJ Couch BR Henderson, et al. 2007 Identification of BRCA1 missense substitutions that confer partial functional activity: potential moderate risk variants? Breast Cancer Res 9 6 R82 10.1186/bcr1826 10.1186/bcr1826 18036263
30. M Kozak 1986 Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes Cell 44 2 283 292 10.1016/0092-8674(86)90762-2 10.1016/0092-8674(86)90762-2 1:CAS:528: DyaL28XitF2qtL0%3D 3943125