Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point
10.1016/j.celrep.2015.09.053
Crossref journal-article
Elsevier BV
Cell Reports (78)
Bibliography

Darman, R. B., Seiler, M., Agrawal, A. A., Lim, K. H., Peng, S., Aird, D., Bailey, S. L., Bhavsar, E. B., Chan, B., Colla, S., Corson, L., Feala, J., Fekkes, P., Ichikawa, K., Keaney, G. F., Lee, L., Kumar, P., Kunii, K., MacKenzie, C., … Buonamici, S. (2015). Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point. Cell Reports, 13(5), 1033–1045.

Authors 36
  1. Rachel B. Darman (first)
  2. Michael Seiler (additional)
  3. Anant A. Agrawal (additional)
  4. Kian H. Lim (additional)
  5. Shouyong Peng (additional)
  6. Daniel Aird (additional)
  7. Suzanna L. Bailey (additional)
  8. Erica B. Bhavsar (additional)
  9. Betty Chan (additional)
  10. Simona Colla (additional)
  11. Laura Corson (additional)
  12. Jacob Feala (additional)
  13. Peter Fekkes (additional)
  14. Kana Ichikawa (additional)
  15. Gregg F. Keaney (additional)
  16. Linda Lee (additional)
  17. Pavan Kumar (additional)
  18. Kaiko Kunii (additional)
  19. Crystal MacKenzie (additional)
  20. Mark Matijevic (additional)
  21. Yoshiharu Mizui (additional)
  22. Khin Myint (additional)
  23. Eun Sun Park (additional)
  24. Xiaoling Puyang (additional)
  25. Anand Selvaraj (additional)
  26. Michael P. Thomas (additional)
  27. Jennifer Tsai (additional)
  28. John Y. Wang (additional)
  29. Markus Warmuth (additional)
  30. Hui Yang (additional)
  31. Ping Zhu (additional)
  32. Guillermo Garcia-Manero (additional)
  33. Richard R. Furman (additional)
  34. Lihua Yu (additional)
  35. Peter G. Smith (additional)
  36. Silvia Buonamici (additional)
References 46 Referenced 403
  1. 10.1093/hmg/8.5.743 / Hum. Mol. Genet. / Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A) by Allikmets (1999)
  2. 10.1038/nature11547 / Nature / Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes by Biankin (2012)
  3. 10.1371/journal.pone.0001970 / PLoS ONE / The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts by Boultwood (2008)
  4. 10.1101/gad.13.7.841 / Genes Dev. / Human step II splicing factor hSlu7 functions in restructuring the spliceosome between the catalytic steps of splicing by Chua (1999)
  5. 10.1038/46086 / Nature / The RNA splicing factor hSlu7 is required for correct 3′ splice-site choice by Chua (1999)
  6. 10.1093/nar/25.4.888 / Nucleic Acids Res. / Functional analysis of the polypyrimidine tract in pre-mRNA splicing by Coolidge (1997)
  7. 10.1101/gad.2014311 / Genes Dev. / Reduced fidelity of branch point recognition and alternative splicing induced by the anti-tumor drug spliceostatin A by Corrionero (2011)
  8. 10.1038/nsmb1260 / Nat. Struct. Mol. Biol. / U2AF-homology motif interactions are required for alternative splicing regulation by SPF45 by Corsini (2007)
  9. 10.1038/nsmb.2123 / Nat. Struct. Mol. Biol. / Splicing enhances recruitment of methyltransferase HYPB/Setd2 and methylation of histone H3 Lys36 by de Almeida (2011)
  10. 10.1371/journal.pcbi.1004105 / PLoS Comput. Biol. / Transcriptome sequencing reveals potential mechanism of cryptic 3′ splice site selection in SF3B1-mutated cancers by DeBoever (2015)
  11. 10.1158/0008-5472.CAN-13-0444 / Cancer Res. / mRNA splicing variants: exploiting modularity to outwit cancer therapy by Dehm (2013)
  12. 10.1038/nature06494 / Nature / Identification of RPS14 as a 5q- syndrome gene by RNA interference screen by Ebert (2008)
  13. 10.1038/nature11143 / Nature / Whole-genome analysis informs breast cancer response to aromatase inhibition by Ellis (2012)
  14. 10.1158/2159-8290.CD-13-0330 / Cancer Discov. / SF3B1 mutations are associated with alternative splicing in uveal melanoma by Furney (2013)
  15. 10.1002/bies.201300156 / BioEssays / The functional consequences of intron retention: alternative splicing coupled to NMD as a regulator of gene expression by Ge (2014)
  16. 10.1038/leu.2014.28 / Leukemia / A common alternative splicing signature is associated with SF3B1 mutations in malignancies from different cell lineages by Gentien (2014)
  17. 10.1126/science.1084155 / Science / Molecular architecture of the multiprotein splicing factor SF3b by Golas (2003)
  18. 10.1128/MCB.18.8.4752 / Mol. Cell. Biol. / A potential role for U2AF-SAP 155 interactions in recruiting U2 snRNP to the branch site by Gozani (1998)
  19. 10.1038/ng.2523 / Nat. Genet. / Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma by Harbour (2013)
  20. 10.1002/wrna.112 / Wiley Interdiscip. Rev. RNA / The mechanism of the second step of pre-mRNA splicing by Horowitz (2012)
  21. 10.1101/gr.181016.114 / Genome Res. / U2AF1 mutations alter splice site recognition in hematological malignancies by Ilagan (2015)
  22. 10.1093/nar/gkr932 / Nucleic Acids Res. / Alternative splicing and nonsense-mediated decay modulate expression of important regulatory genes in Arabidopsis by Kalyna (2012)
  23. 10.1038/nrm3454 / Nat. Rev. Mol. Cell Biol. / NMD: a multifaceted response to premature translational termination by Kervestin (2012)
  24. 10.1016/j.celrep.2015.03.048 / Cell Rep. / SF3B1 association with chromatin determines splicing outcomes by Kfir (2015)
  25. 10.1038/leu.2013.80 / Leukemia / Multiple mechanisms deregulate EZH2 and histone H3 lysine 27 epigenetic changes in myeloid malignancies by Khan (2013)
  26. 10.1016/j.ccell.2015.04.006 / Cancer Cell / SRSF2 Mutations Contribute to Myelodysplasia by Mutant-Specific Effects on Exon Recognition by Kim (2015)
  27. 10.1097/CMR.0000000000000071 / Melanoma Res. / Rare SF3B1 R625 mutations in cutaneous melanoma by Kong (2014)
  28. 10.1016/S0092-8674(02)00730-4 / Cell / Splicing regulation at the second catalytic step by Sex-lethal involves 3′ splice site recognition by SPF45 by Lallena (2002)
  29. 10.1016/j.cell.2013.01.019 / Cell / Evolution and impact of subclonal mutations in chronic lymphocytic leukemia by Landau (2013)
  30. 10.1073/pnas.1101135108 / Proc. Natl. Acad. Sci. USA / Using positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes by Lim (2011)
  31. 10.1182/blood-2015-03-633537 / Blood / SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts by Malcovati (2015)
  32. 10.1038/nrm3742 / Nat. Rev. Mol. Cell Biol. / A day in the life of the spliceosome by Matera (2014)
  33. 10.1101/gr.182899.114 / Genome Res. / Genome-wide discovery of human splicing branchpoints by Mercer (2015)
  34. 10.1073/pnas.96.12.6591 / Proc. Natl. Acad. Sci. USA / Accurate quantitation of protein expression and site-specific phosphorylation by Oda (1999)
  35. 10.1056/NEJMoa1103283 / N. Engl. J. Med. / Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts by Papaemmanuil (2011)
  36. 10.1126/science.1261877 / Science / Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome by Rivas (2015)
  37. 10.1016/j.ccr.2014.08.001 / Cancer Cell / Role of casein kinase 1A1 in the biology and targeted therapy of del(5q) MDS by Schneider (2014)
  38. 10.1016/j.ccell.2015.04.008 / Cancer Cell / Mutant U2AF1 Expression Alters Hematopoiesis and Pre-mRNA Splicing In Vivo by Shirai (2015)
  39. 10.1016/j.molmed.2012.06.006 / Trends Mol. Med. / Pre-mRNA splicing in disease and therapeutics by Singh (2012)
  40. 10.1016/j.cell.2012.10.007 / Cell / The cellular EJC interactome reveals higher-order mRNP structure and an EJC-SR protein nexus by Singh (2012)
  41. 10.1073/pnas.0903036106 / Proc. Natl. Acad. Sci. USA / Efficient IgM assembly and secretion require the plasma cell induced endoplasmic reticulum protein pERp1 by van Anken (2009)
  42. 10.1016/j.cell.2009.02.009 / Cell / The spliceosome: design principles of a dynamic RNP machine by Wahl (2009)
  43. 10.1002/wrna.1222 / Wiley Interdiscip. Rev. RNA / Splicing factor mutations and cancer by Yoshida (2014)
  44. 10.1038/nature10496 / Nature / Frequent pathway mutations of splicing machinery in myelodysplasia by Yoshida (2011)
  45. 10.1158/2159-8290.CD-13-0253 / Cancer Discov. / Misregulation of pre-mRNA alternative splicing in cancer by Zhang (2013)
  46. 10.1158/0008-5472.CAN-14-2930 / Cancer Res. / A chemical genetics approach for the functional assessment of novel cancer genes by Zhou (2015)
Dates
Type When
Created 9 years, 10 months ago (Oct. 25, 2015, 2:14 a.m.)
Deposited 6 years ago (Aug. 31, 2019, 3:01 p.m.)
Indexed 1 day, 4 hours ago (Aug. 31, 2025, 6:02 a.m.)
Issued 9 years, 10 months ago (Nov. 1, 2015)
Published 9 years, 10 months ago (Nov. 1, 2015)
Published Print 9 years, 10 months ago (Nov. 1, 2015)
Funders 0

None

@article{Darman_2015, title={Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3′ Splice Site Selection through Use of a Different Branch Point}, volume={13}, ISSN={2211-1247}, url={http://dx.doi.org/10.1016/j.celrep.2015.09.053}, DOI={10.1016/j.celrep.2015.09.053}, number={5}, journal={Cell Reports}, publisher={Elsevier BV}, author={Darman, Rachel B. and Seiler, Michael and Agrawal, Anant A. and Lim, Kian H. and Peng, Shouyong and Aird, Daniel and Bailey, Suzanna L. and Bhavsar, Erica B. and Chan, Betty and Colla, Simona and Corson, Laura and Feala, Jacob and Fekkes, Peter and Ichikawa, Kana and Keaney, Gregg F. and Lee, Linda and Kumar, Pavan and Kunii, Kaiko and MacKenzie, Crystal and Matijevic, Mark and Mizui, Yoshiharu and Myint, Khin and Park, Eun Sun and Puyang, Xiaoling and Selvaraj, Anand and Thomas, Michael P. and Tsai, Jennifer and Wang, John Y. and Warmuth, Markus and Yang, Hui and Zhu, Ping and Garcia-Manero, Guillermo and Furman, Richard R. and Yu, Lihua and Smith, Peter G. and Buonamici, Silvia}, year={2015}, month=nov, pages={1033–1045} }