Smg1 is required for embryogenesis and regulates diverse genes via alternative splicing coupled to nonsense-mediated mRNA decay

Proceedings of the National Academy of Sciences of the United States of America

Volumn 107, Issue 27, 2010, Pages 12186-12191

  McIlwain, David R ^a   Pan, Qun ^b   Reilly, Patrick T ^c   Elia, Andrew J ^a   McCracken, Susan ^a   Wakeham, Andrew C ^a   Itie Youten, Annick ^a   Blencowe, Benjamin J ^b   Mak, Tak W ^a  

^a PRINCESS MARGARET HOSPITAL   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

^c DIVISION OF MEDICAL ONCOLOGY   (Singapore)

Author keywords

Gene trap; Smg 1

Indexed keywords

PHOSPHOTRANSFERASE; SMG1 ENZYME; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; CELL STRUCTURE; CONTROLLED STUDY; EMBRYO DEVELOPMENT; ENZYME DEFICIENCY; GENE CONTROL; GENE EXPRESSION; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HISTOPATHOLOGY; NONHUMAN; NONSENSE MEDIATED MRNA DECAY; PRIORITY JOURNAL; PROGENY; SMG1 DEFICIENCY;

1-PHOSPHATIDYLINOSITOL 3-KINASE; ALTERNATIVE SPLICING; ANIMALS; CELLS, CULTURED; EMBRYO, MAMMALIAN; EMBRYONIC STEM CELLS; FEMALE; GENE EXPRESSION PROFILING; GENES, LETHAL; IMMUNOBLOTTING; MALE; MICE; MICE, INBRED C57BL; MICE, INBRED STRAINS; MICE, KNOCKOUT; PHOSPHORYLATION; PROTEIN-SERINE-THREONINE KINASES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA STABILITY;

MAMMALIA;

EID: 77955448359     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1007336107     Document Type: Article

References (36)

1. Lovejoy CA, Cortez D (2009) Common mechanisms of PIKK regulation. DNA Repair (Amst) 8:1004-1008.
2. Denning G, Jamieson L, Maquat LE, Thompson EA, Fields AP (2001) Cloning of a novel phosphatidylinositol kinase-related kinase: Characterization of the human SMG-1 RNA surveillance protein. J Biol Chem 276:22709-22714. (Pubitemid 37410954)
3. Yamashita A, Ohnishi T, Kashima I, Taya Y, Ohno S (2001) Human SMG-1, a novel phosphatidylinositol 3-kinase-related protein kinase, associates with components of the mRNA surveillance complex and is involved in the regulation of nonsense-mediated mRNA decay. Genes Dev 15:2215-2228. (Pubitemid 32843834)
4. Brumbaugh KM, et al. (2004) The mRNA surveillance protein hSMG-1 functions in genotoxic stress response pathways in mammalian cells. Mol Cell 14:585-598.
5. Azzalin CM, et al. (2007) Telomeric repeat containing RNA and RNA surveillance factors at mammalian chromosome ends. Science 318:798-801.
6. Chen RQ, et al. (2009) Kinome siRNA screen identifies SMG-1 as a negative regulator of hypoxia-inducible factor-1alpha in hypoxia. J Biol Chem 284:16752-16758.
7. Oliveira V, et al. (2008) A protective role for the human SMG-1 kinase against tumor necrosis factor-alpha-induced apoptosis. J Biol Chem 283:13174-13184.
8. Yamashita A, Kashima I, Ohno S (2005) The role of SMG-1 in nonsense-mediated mRNA decay. Biochim Biophys Acta 1754:305-315. (Pubitemid 41797712)
9. Kashima I, et al. (2006) Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay. Genes Dev 20:355-367. (Pubitemid 43200289)
10. Isken O, Maquat LE (2007) Quality control of eukaryotic mRNA: Safeguarding cells from abnormal mRNA function. Genes Dev 21:1833-1856. (Pubitemid 47204924)
11. Weischenfeldt J, Lykke-Andersen J, Porse B (2005) Messenger RNA surveillance: Neutralizing natural nonsense. Curr Biol 15:R559-R562. (Pubitemid 41026613)
12. Mendell JT, Sharifi NA, Meyers JL, Martinez-Murillo F, Dietz HC (2004) Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Nat Genet 36:1073-1078. (Pubitemid 41184468)
13. Pan Q, et al. (2006) Quantitative microarray profiling provides evidence against widespread coupling of alternative splicing with nonsense-mediated mRNA decay to control gene expression. Genes Dev 20:153-158. (Pubitemid 43112934)
14. Saltzman AL, et al. (2008) Regulation of multiple core spliceosomal proteins by alternative splicing-coupled nonsense-mediated mRNA decay. Mol Cell Biol 28:4320-4330.
15. Ni JZ, et al. (2007) Ultraconserved elements are associated with homeostatic control of splicing regulators by alternative splicing and nonsense-mediated decay. Genes Dev 21:708-718.
16. Barberan-Soler S, Zahler AM (2008) Alternative splicing regulation during C. elegans development: splicing factors as regulated targets. PLoS Genet 4:e1000001.
17. McGlincy NJ, Smith CW (2008) Alternative splicing resulting in nonsense-mediated mRNA decay: what is the meaning of nonsense? Trends Biochem Sci 33:385-393.
18. Spellman R, Llorian M, Smith CW (2007) Crossregulation and functional redundancy between the splicing regulator PTB and its paralogs nPTB and ROD1. Mol Cell 27: 420-434. (Pubitemid 47126939)
19. Lareau LF, et al. (2007) The Coupling of Alternative Splicing and Nonsense-Mediated mRNA Decay. Alternative Splicing in the Postgenomic Era, eds Blencowe BJ, Graveley BR (Landes Bioscience, Austin), pp 190-211.
20. Nord AS, et al. (2006) The International Gene Trap Consortium website: A portal to all publicly available gene trap cell lines in mouse. Nucleic Acids Res 34 (database issue): D642-D648.
21. Hakem A, et al. (2005) RhoC is dispensable for embryogenesis and tumor initiation but essential for metastasis. Genes Dev 19:1974-1979. (Pubitemid 41247955)
22. Hansen KD, et al. (2009) Genome-wide identification of alternative splice forms down-regulated by nonsense-mediated mRNA decay in Drosophila. PLoS Genet 5: e1000525.
23. Ramani AK, et al. (2009) High resolution transcriptome maps for wild-type and nonsense-mediated decay-defective Caenorhabditis elegans. Genome Biol 10:R101.
24. James PD, et al. (2005) Aminoglycoside suppression of nonsense mutations in severe hemophilia. Blood 106:3043-3048.
25. Wilschanski M, et al. (2003) Gentamicin-induced correction of CFTR function in patients with cystic fibrosis and CFTR stop mutations. N Engl J Med 349:1433-1441.
26. Lareau LF, Inada M, Green RE, Wengrod JC, Brenner SE (2007) Unproductive splicing of SR genes associated with highly conserved and ultraconserved DNA elements. Nature 446:926-929. (Pubitemid 46633161)
27. Grimson A, O'Connor S, Newman CL, Anderson P (2004) SMG-1 is a phosphatidylinositol kinase-related protein kinase required for nonsense-mediated mRNA decay in Caenorhabditis elegans. Mol Cell Biol 24:7483-7490. (Pubitemid 39121476)
28. Metzstein MM, Krasnow MA (2006) Functions of the nonsense-mediated mRNA decay pathway in Drosophila development. PLoS Genet 2:e180.
29. Wittkopp N, et al. (2009) Nonsense-mediated mRNA decay effectors are essential for zebrafish embryonic development and survival. Mol Cell Biol 29:3517-3528.
30. Medghalchi SM, et al. (2001) Rent1, a trans-effector of nonsense-mediated mRNA decay, is essential for mammalian embryonic viability. Hum Mol Genet 10:99-105.
31. Weischenfeldt J, et al. (2008) NMD is essential for hematopoietic stem and progenitor cells and for eliminating by-products of programmed DNA rearrangements. Genes Dev 22:1381-1396. (Pubitemid 351717528)
32. Hao Z, et al. (2005) Specific ablation of the apoptotic functions of cytochrome C reveals a differential requirement for cytochrome C and Apaf-1 in apoptosis. Cell 121: 579-591.
33. Langmead B, Trapnell C, Pop M, Salzberg SL (2009) Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol 10:R25.
34. Pan Q, Shai O, Lee LJ, Frey BJ, Blencowe BJ (2008) Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing. Nat Genet 40:1413-1415.
35. Pan Q, et al. (2005) Alternative splicing of conserved exons is frequently species-specific in human and mouse. Trends Genet 21:73-77. (Pubitemid 40127349)
36. Beissbarth T, Speed TP (2004) GOstat: Find statistically overrepresented Gene Ontologies within a group of genes. Bioinformatics 20:1464-1465. (Pubitemid 38931420)