SF3B1

Summary

Gene Symbol: SF3B1
Description: splicing factor 3b subunit 1
Alias: Hsh155, MDS, PRP10, PRPF10, SAP155, SF3b155, splicing factor 3B subunit 1, pre-mRNA processing 10, pre-mRNA splicing factor SF3b, 155 kDa subunit, spliceosome-associated protein 155, splicing factor 3b, subunit 1, 155kDa
Species: human
Products:     SF3B1

Top Publications

  1. Wan Y, Wu C. SF3B1 mutations in chronic lymphocytic leukemia. Blood. 2013;121:4627-34 pubmed publisher
    b>SF3B1 is a critical component of the splicing machinery, which catalyzes the removal of introns from precursor messenger RNA (mRNA)...
  2. Das B, Xia L, Palandjian L, Gozani O, Chyung Y, Reed R. Characterization of a protein complex containing spliceosomal proteins SAPs 49, 130, 145, and 155. Mol Cell Biol. 1999;19:6796-802 pubmed
  3. Harbour J, Roberson E, Anbunathan H, Onken M, Worley L, Bowcock A. Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma. Nat Genet. 2013;45:133-5 pubmed publisher
    ..Here, we describe mutations occurring exclusively at codon 625 of the SF3B1 gene, encoding splicing factor 3B subunit 1, in low-grade uveal melanomas with good prognosis...
  4. Brand M, Moggs J, Oulad Abdelghani M, Lejeune F, Dilworth F, Stevenin J, et al. UV-damaged DNA-binding protein in the TFTC complex links DNA damage recognition to nucleosome acetylation. EMBO J. 2001;20:3187-96 pubmed
    ..Thus, our experiments reveal a molecular link between DNA damage recognition and chromatin modification. ..
  5. Matsushita K, Kajiwara T, Tamura M, Satoh M, Tanaka N, Tomonaga T, et al. SAP155-mediated splicing of FUSE-binding protein-interacting repressor serves as a molecular switch for c-myc gene expression. Mol Cancer Res. 2012;10:787-99 pubmed publisher
    ..b>SAP155 is a subunit of the essential splicing factor 3b (SF3b) subcomplex in the spliceosome...
  6. Malcovati L, Papaemmanuil E, Bowen D, Boultwood J, Della Porta M, Pascutto C, et al. Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms. Blood. 2011;118:6239-46 pubmed publisher
    In a previous study, we identified somatic mutations of SF3B1, a gene encoding a core component of RNA splicing machinery, in patients with myelodysplastic syndrome (MDS)...
  7. Papaemmanuil E, Cazzola M, Boultwood J, Malcovati L, Vyas P, Bowen D, et al. Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts. N Engl J Med. 2011;365:1384-95 pubmed publisher
    ..Targeted resequencing of the gene encoding RNA splicing factor 3B, subunit 1 (SF3B1), was also performed in a cohort of 2087 patients with myeloid or other cancers...
  8. Gozani O, Potashkin J, Reed R. A potential role for U2AF-SAP 155 interactions in recruiting U2 snRNP to the branch site. Mol Cell Biol. 1998;18:4752-60 pubmed
    ..Together, our data are consistent with a model in which U2AF binds to the pyrimidine tract in the E complex and then interacts with SAP 155 to recruit U2 snRNP to the BPS. ..
  9. Kajiwara T, Matsushita K, Itoga S, Tamura M, Tanaka N, Tomonaga T, et al. SAP155-mediated c-myc suppressor far-upstream element-binding protein-interacting repressor splicing variants are activated in colon cancer tissues. Cancer Sci. 2013;104:149-56 pubmed publisher
    ..Cancer Res 2006). Recently, the knockdown of SAP155 pre-mRNA-splicing factor, a subunit of SF3b, was reported to disturb FIR pre-mRNA splicing and yield FIR?exon2, an ..

More Information

Publications77

  1. Quesada V, Conde L, Villamor N, Ordóñez G, Jares P, Bassaganyas L, et al. Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia. Nat Genet. 2011;44:47-52 pubmed publisher
    ..Among these genes, SF3B1, encoding a subunit of the spliceosomal U2 small nuclear ribonucleoprotein (snRNP), is somatically mutated in 9...
  2. Wang C, Chua K, Seghezzi W, Lees E, Gozani O, Reed R. Phosphorylation of spliceosomal protein SAP 155 coupled with splicing catalysis. Genes Dev. 1998;12:1409-14 pubmed
    ..Significantly, SAP 155 is phosphorylated concomitant with or just after catalytic step one, making this the first example of a protein modification tightly regulated with splicing catalysis. ..
  3. Boudrez A, Beullens M, Waelkens E, Stalmans W, Bollen M. Phosphorylation-dependent interaction between the splicing factors SAP155 and NIPP1. J Biol Chem. 2002;277:31834-41 pubmed
    ..the FHA domain of NIPP1 interacts in vitro and in vivo with a TP dipeptide-rich fragment of the splicing factor SAP155/SF3b(155), a component of the U2 small nuclear ribonucleoprotein particle...
  4. Visconte V, Rogers H, Singh J, Barnard J, Bupathi M, Traina F, et al. SF3B1 haploinsufficiency leads to formation of ring sideroblasts in myelodysplastic syndromes. Blood. 2012;120:3173-86 pubmed publisher
    ..SF3B1, splicing factor 3b subunit 1 is mutated in 60%-80% of refractory anemia with ring sideroblasts (RARS) and RARS associated with ..
  5. Furney S, Pedersen M, Gentien D, Dumont A, Rapinat A, Desjardins L, et al. SF3B1 mutations are associated with alternative splicing in uveal melanoma. Cancer Discov. 2013;3:1122-1129 pubmed publisher
    ..We did not observe an ultraviolet radiation DNA damage signature, but identified SF3B1 mutations in three samples and a further 15 mutations in an extension cohort of 105 samples...
  6. Will C, Schneider C, MacMillan A, Katopodis N, Neubauer G, Wilm M, et al. A novel U2 and U11/U12 snRNP protein that associates with the pre-mRNA branch site. EMBO J. 2001;20:4536-46 pubmed
    ..p14 was also shown to be a subunit of the heteromeric splicing factor SF3b and to interact directly with SF3b155. Immuno precipitations indicated that p14 is present in U12-type spliceosomes, consistent with the idea that ..
  7. Matsushita K, Tamura M, Tanaka N, Tomonaga T, Matsubara H, Shimada H, et al. Interactions between SAP155 and FUSE-binding protein-interacting repressor bridges c-Myc and P27Kip1 expression. Mol Cancer Res. 2013;11:689-98 pubmed publisher
    ..P27Kip1 (CDKN1B) arrests cells in G1, and SAP155 (SF3B1), a subunit of the essential splicing factor 3b (SF3b) subcomplex of the spliceosome, is required for ..
  8. Makishima H, Visconte V, Sakaguchi H, Jankowska A, Abu Kar S, Jerez A, et al. Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis. Blood. 2012;119:3203-10 pubmed publisher
    ..Recently, mutations in a gene encoding a spliceosomal protein, SF3B1, were discovered in a distinct form of MDS with ring sideroblasts...
  9. Je E, Yoo N, Kim Y, Kim M, Lee S. Mutational analysis of splicing machinery genes SF3B1, U2AF1 and SRSF2 in myelodysplasia and other common tumors. Int J Cancer. 2013;133:260-5 pubmed publisher
    Recurrent somatic mutations in splicing machinery components, including SF3B1, U2AF1 and SRSF2 genes have recently been reported in myelodysplastic syndromes (MDS)...
  10. Martin M, Maßhöfer L, Temming P, Rahmann S, Metz C, Bornfeld N, et al. Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3. Nat Genet. 2013;45:933-6 pubmed publisher
    ..Using exome sequencing, we identified recurrent somatic mutations in EIF1AX and SF3B1, specifically occurring in uveal melanomas with disomy 3, which rarely metastasize...
  11. Golas M, Sander B, Will C, Luhrmann R, Stark H. Molecular architecture of the multiprotein splicing factor SF3b. Science. 2003;300:980-4 pubmed
    ..The 22 tandem helical repeats of the protein SF3b155 are located in the outer shell of the complex enclosing p14.
  12. Ganguly B, Kadam N. Mutations of myelodysplastic syndromes (MDS): An update. Mutat Res Rev Mutat Res. 2016;769:47-62 pubmed publisher
    ..Recent discoveries on mutations in RNA-splicing machinery (SF3B1, SRSF2, ZRSR2, U2AF1, U2AF2); DNA methylation (TET2, DNMT3A, IDH1/2); chromatin modification (ASXL1, EZH2); ..
  13. Cazzola M, Malcovati L. Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing. Hematology Am Soc Hematol Educ Program. 2015;2015:19-25 pubmed publisher
    ..More than 90% of these patients carry somatic mutations in SF3B1, a gene encoding a core component of the RNA splicing machinery...
  14. Yavuzyigitoglu S, Mensink H, Smit K, Vaarwater J, Verdijk R, Beverloo B, et al. Metastatic Disease in Polyploid Uveal Melanoma Patients Is Associated With BAP1 Mutations. Invest Ophthalmol Vis Sci. 2016;57:2232-9 pubmed publisher
    ..to determine the BAP1 expression and mutation analyses of BAP1 (coding regions) and the mutation hotspots for the SF3B1, EIF1AX, GNAQ, and GNA11 genes was carried out using Sanger sequencing or whole-exome sequencing...
  15. Inokura K, Fujiwara T, Saito K, Iino T, Hatta S, Okitsu Y, et al. Impact of TET2 deficiency on iron metabolism in erythroblasts. Exp Hematol. 2017;49:56-67.e5 pubmed publisher
    ..significant dysregulation of genes involved in iron and heme metabolism, including Hmox1, Fech, Abcb7, and Sf3b1 downregulation...
  16. Zhou A, Afzal A, Oh S. Prognostication in Philadelphia Chromosome Negative Myeloproliferative Neoplasms: a Review of the Recent Literature. Curr Hematol Malig Rep. 2017;12:397-405 pubmed publisher
    ..In essential thrombocythemia (ET), JAK2 V617F mutation, splenomegaly, and mutations in SH2B3, SF3B1, U2AF1, TP53, IDH2, and EZH2 were found to be additional negative prognostic factors...
  17. Jhanwar S. Genetic and epigenetic pathways in myelodysplastic syndromes: A brief overview. Adv Biol Regul. 2015;58:28-37 pubmed publisher
    ..The most common driver gene mutations detected in patients with MDS include RNA splicing (SF3B1,SRSF2,U2F1,ZRSR2), DNA methylation (TET2,DNMT3A,IDH1/IDH2), chromatin modification (ASXL1,EZH2), transcription ..
  18. Zahid M, Patnaik M, Gangat N, Hashmi S, Rizzieri D. Insight into the molecular pathophysiology of myelodysplastic syndromes: targets for novel therapy. Eur J Haematol. 2016;97:313-20 pubmed publisher
    ..necrosis factor-alpha, interferon-gamma, SMAD proteins), mutations in genes encoding the RNA splicing machinery (SF3B1, SRSF2, ZRSR2, and U2AF1 genes), mutations in genes disrupting the epigenetic machinery (TET2, DNMT3A, DNMT3B, ..
  19. Leo F, Bartels S, Mägel L, Framke T, Büsche G, Jonigk D, et al. Prognostic factors in the myoepithelial-like spindle cell type of metaplastic breast cancer. Virchows Arch. 2016;469:191-201 pubmed publisher
    ..CTNNB1, EGFR, ERBB2, FBXW7, FGFR2, FOXL2, GNAQ, GNAS, KIT, KRAS, MAP2K1, MET, MSH6, NRAS, PDGFRA, PIK3CA, PTEN, SF3B1, SMAD4, SRC, SRSF2, STK11, TP53, and U2AF1; copy numbers for EGFR, c-myc, FGFR, PLAG, c-met) were assessed...
  20. Narayan S, Bader G, Reimand J. Frequent mutations in acetylation and ubiquitination sites suggest novel driver mechanisms of cancer. Genome Med. 2016;8:55 pubmed publisher
    ..g. several histone proteins and the splicing factor SF3B1)...
  21. Nguyen H, Leong W, Li W, Reddy P, Sullivan J, Walter M, et al. Spliceosome Mutations Induce R Loop-Associated Sensitivity to ATR Inhibition in Myelodysplastic Syndromes. Cancer Res. 2018;78:5363-5374 pubmed publisher
    Heterozygous somatic mutations in spliceosome genes (U2AF1, SF3B1, ZRSR2, or SRSF2) occur in >50% of patients with myelodysplastic syndrome (MDS)...
  22. Nikpour M, Scharenberg C, Liu A, Conte S, Karimi M, Mortera Blanco T, et al. The transporter ABCB7 is a mediator of the phenotype of acquired refractory anemia with ring sideroblasts. Leukemia. 2013;27:889-896 pubmed publisher
    ..Mutations in the SF3B1 gene, a core component of the RNA splicing machinery, were recently identified in a high proportion of patients ..
  23. Bennett J. Changes in the Updated 2016: WHO Classification of the Myelodysplastic Syndromes and Related Myeloid Neoplasms. Clin Lymphoma Myeloma Leuk. 2016;16:607-609 pubmed publisher
    ..Dysplasia and Ring Sideroblasts (RCMD-RS) has been separated from RCMD to recognize the importance of the SF3B1 mutation...
  24. Thijssen R, Ter Burg J, Garrick B, van Bochove G, Brown J, Fernandes S, et al. Dual TORK/DNA-PK inhibition blocks critical signaling pathways in chronic lymphocytic leukemia. Blood. 2016;128:574-83 pubmed publisher
    ..and DNA-PK inhibition in vitro resulted in caspase-dependent cell killing irrespective of p53, ATM, NOTCH1, or SF3B1 status...
  25. Barbutti I, Machado Neto J, Arfelli V, de Melo Campos P, Traina F, Saad S, et al. The U2AF homology motif kinase 1 (UHMK1) is upregulated upon hematopoietic cell differentiation. Biochim Biophys Acta Mol Basis Dis. 2018;1864:959-966 pubmed publisher
    ..possesses a U2AF homology motif and phosphorylates and regulates the activity of the splicing factors SF1 and SF3b155. Mutations in these components of the spliceosome machinery have been recently implicated in leukemogenesis...
  26. Shirahata Adachi M, Iriyama C, Tomita A, Suzuki Y, Shimada K, Kiyoi H. Altered EZH2 splicing and expression is associated with impaired histone H3 lysine 27 tri-Methylation in myelodysplastic syndrome. Leuk Res. 2017;63:90-97 pubmed publisher
    ..was observed in patients with or without alterations in genes involved with RNA splicing, SRSF2, U2AF1 and SF3B1. Functional analysis in vitro revealed that C-terminally truncated EZH2, lacking the SET domain, may impair the ..
  27. Rüben K, Wurzlbauer A, Walte A, Sippl W, Bracher F, Becker W. Selectivity Profiling and Biological Activity of Novel β-Carbolines as Potent and Selective DYRK1 Kinase Inhibitors. PLoS ONE. 2015;10:e0132453 pubmed publisher
    ..In cellular assays, AnnH75 dose-dependently reduced the phosphorylation of three known DYRK1A substrates (SF3B1, SEPT4, and tau) without negative effects on cell viability...
  28. Gill H, Leung A, Kwong Y. Molecular and Cellular Mechanisms of Myelodysplastic Syndrome: Implications on Targeted Therapy. Int J Mol Sci. 2016;17:440 pubmed publisher
    ..in DNA methylation (TET2, DNMT3A, IDH1/2), histone modification (ASXL1, EZH2), the RNA splicing machinery (SF3B1, SRSF2, ZRSR2, U2AF1/2), transcription (RUNX1, TP53, BCOR, PHF6, NCOR, CEBPA, GATA2), tyrosine kinase receptor ..
  29. Platzbecker U, Germing U, Götze K, Kiewe P, Mayer K, Chromik J, et al. Luspatercept for the treatment of anaemia in patients with lower-risk myelodysplastic syndromes (PACE-MDS): a multicentre, open-label phase 2 dose-finding study with long-term extension study. Lancet Oncol. 2017;18:1338-1347 pubmed publisher
    ..lt;200 IU/L, 200-500 IU/L, and >500 IU/L); presence of 15% or more ring sideroblasts; and presence of SF3B1 mutations. Efficacy analyses were carried out on the efficacy evaluable and intention-to-treat populations...
  30. Timani K, Liu Y, Suvannasankha A, He J. Regulation of ubiquitin-proteasome system-mediated Tip110 protein degradation by USP15. Int J Biochem Cell Biol. 2014;54:10-9 pubmed publisher
    ..Interestingly, USP15 knockdown restored hTip110 protein expression in Tg MEF and USP15 expression had little effects. Taken together, these results provide insights into the regulatory mechanism of human Tip110 degradation by USP15. ..
  31. Liu Y, Wei B, Zhang X, Xu D, Wang B, Yin G, et al. Identification of potential therapeutic target genes and miRNAs for primary myelofibrosis with microarray analysis. Exp Ther Med. 2017;14:2743-2750 pubmed publisher
    ..For downregulated genes, certain DEGs were enriched in the spliceosome, including SF3B1 and CDC40...
  32. Alsafadi S, Houy A, Battistella A, Popova T, Wassef M, Henry E, et al. Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage. Nat Commun. 2016;7:10615 pubmed publisher
    Hotspot mutations in the spliceosome gene SF3B1 are reported in ∼20% of uveal melanomas...
  33. Kfir N, Lev Maor G, Glaich O, Alajem A, Datta A, Sze S, et al. SF3B1 association with chromatin determines splicing outcomes. Cell Rep. 2015;11:618-29 pubmed publisher
    ..Proteomic, co-immunoprecipitation, and sedimentation analyses described here indicate that SF3B1, an essential splicing component of the U2 snRNP complex, is strongly associated with nucleosomes...
  34. Mansouri L, Grabowski P, Degerman S, Svenson U, Gunnarsson R, Cahill N, et al. Short telomere length is associated with NOTCH1/SF3B1/TP53 aberrations and poor outcome in newly diagnosed chronic lymphocytic leukemia patients. Am J Hematol. 2013;88:647-51 pubmed publisher
    ..Short telomeres were particularly associated with high-risk genetic markers, such as NOTCH1, SF3B1, or TP53 aberrations, and predicted a short time to treatment (TTT) and overall survival (OS) (both P < 0.0001)...
  35. Visconte V, Tabarroki A, Rogers H, Hasrouni E, Traina F, Makishima H, et al. SF3B1 mutations are infrequently found in non-myelodysplastic bone marrow failure syndromes and mast cell diseases but, if present, are associated with the ring sideroblast phenotype. Haematologica. 2013;98:e105-7 pubmed publisher
  36. Jenkins J, Kielkopf C. Splicing Factor Mutations in Myelodysplasias: Insights from Spliceosome Structures. Trends Genet. 2017;33:336-348 pubmed publisher
    ..and associated protein complexes shed light on the molecular interactions mediated by 'hotspots' of the SF3B1 and U2AF1 pre-mRNA splicing factors. The frequently mutated SF3B1 residues contact the pre-mRNA splice site...
  37. Maguire S, Leonidou A, Wai P, Marchiò C, Ng C, Sapino A, et al. SF3B1 mutations constitute a novel therapeutic target in breast cancer. J Pathol. 2015;235:571-80 pubmed publisher
    ..6% of unselected breast cancers, including hotspot mutations in the SF3B1 gene, which were found in 1.8% of unselected breast cancers...
  38. Dolatshad H, Pellagatti A, Fernandez Mercado M, Yip B, Malcovati L, Attwood M, et al. Disruption of SF3B1 results in deregulated expression and splicing of key genes and pathways in myelodysplastic syndrome hematopoietic stem and progenitor cells. Leukemia. 2015;29:1092-103 pubmed publisher
    The splicing factor SF3B1 is the most commonly mutated gene in the myelodysplastic syndrome (MDS), particularly in patients with refractory anemia with ring sideroblasts (RARS)...
  39. Yavuzyigitoglu S, Koopmans A, Verdijk R, Vaarwater J, Eussen B, van Bodegom A, et al. Uveal Melanomas with SF3B1 Mutations: A Distinct Subclass Associated with Late-Onset Metastases. Ophthalmology. 2016;123:1118-28 pubmed publisher
    To investigate the prevalence and prognostic value of SF3B1 and EIF1AX mutations in uveal melanoma (UM) patients. Case series. Cohort of 151 patients diagnosed with and treated for UM...
  40. Chao M, Thomay K, Goehring G, Wlodarski M, Pastor V, Schlegelberger B, et al. Mutational Spectrum of Fanconi Anemia Associated Myeloid Neoplasms. Klin Padiatr. 2017;229:329-334 pubmed publisher
    ..Interestingly, one patient with refractory anemia with ring sideroblasts harbored the SF3B1 p...
  41. Sundaramoorthy S, Vázquez Novelle M, Lekomtsev S, Howell M, Petronczki M. Functional genomics identifies a requirement of pre-mRNA splicing factors for sister chromatid cohesion. EMBO J. 2014;33:2623-42 pubmed publisher
    ..This may have clinical implications because SF3B1, a splicing factor that we identify to be essential for cohesion, is recurrently mutated in chronic lymphocytic ..
  42. Schwaederle M, Ghia E, Rassenti L, Obara M, Dell Aquila M, Fecteau J, et al. Subclonal evolution involving SF3B1 mutations in chronic lymphocytic leukemia. Leukemia. 2013;27:1214-7 pubmed publisher
  43. Carter H, Marty R, Hofree M, Gross A, Jensen J, Fisch K, et al. Interaction Landscape of Inherited Polymorphisms with Somatic Events in Cancer. Cancer Discov. 2017;7:410-423 pubmed publisher
    ..Among germline-somatic interactions, we found germline variants in RBFOX1 that increased incidence of SF3B1 somatic mutation by 8-fold via functional alterations in RNA splicing. Similarly, 19p13...
  44. Robertson A, Shih J, Yau C, Gibb E, Oba J, Mungall K, et al. Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma. Cancer Cell. 2017;32:204-220.e15 pubmed publisher
    ..We report change-of-function SRSF2 mutations. Within D3-UM, EIF1AX- and SRSF2/SF3B1-mutant tumors have distinct somatic copy number alterations and DNA methylation profiles, providing insight into ..
  45. Komor M, Pham T, Hiemstra A, Piersma S, Bolijn A, Schelfhorst T, et al. Identification of Differentially Expressed Splice Variants by the Proteogenomic Pipeline Splicify. Mol Cell Proteomics. 2017;16:1850-1863 pubmed publisher
    ..from colorectal cancer cell line SW480, before and after siRNA-mediated downmodulation of the splicing factors SF3B1 and SRSF1...
  46. Carrocci T, Zoerner D, Paulson J, Hoskins A. SF3b1 mutations associated with myelodysplastic syndromes alter the fidelity of branchsite selection in yeast. Nucleic Acids Res. 2017;45:4837-4852 pubmed publisher
    ..We have used SF3b1 mutations associated with MDS to interrogate the role of the yeast ortholog, Hsh155, in BS selection and splicing...
  47. Gentien D, Kosmider O, Nguyen Khac F, Albaud B, Rapinat A, Dumont A, et al. A common alternative splicing signature is associated with SF3B1 mutations in malignancies from different cell lineages. Leukemia. 2014;28:1355-7 pubmed publisher
  48. Ewens K, Kanetsky P, Richards Yutz J, Purrazzella J, Shields C, Ganguly T, et al. Chromosome 3 status combined with BAP1 and EIF1AX mutation profiles are associated with metastasis in uveal melanoma. Invest Ophthalmol Vis Sci. 2014;55:5160-7 pubmed publisher
    Somatic mutations in GNAQ, GNA11, SF3B1, EIF1AX, and BAP1 have been identified in uveal melanoma (UM)...
  49. Kim Guisbert K, Guisbert E. SF3B1 is a stress-sensitive splicing factor that regulates both HSF1 concentration and activity. PLoS ONE. 2017;12:e0176382 pubmed publisher
    ..In a genetic screen, we identified SF3B1, a core component of the U2 snRNP subunit of the spliceosome, as a regulator of the heat shock response in ..
  50. Carvalho T, Martins S, Rino J, Marinho S, Carmo Fonseca M. Pharmacological inhibition of the spliceosome subunit SF3b triggers exon junction complex-independent nonsense-mediated decay. J Cell Sci. 2017;130:1519-1531 pubmed publisher
  51. Kong Y, Krauthammer M, Halaban R. Rare SF3B1 R625 mutations in cutaneous melanoma. Melanoma Res. 2014;24:332-4 pubmed publisher
    ..Among the spliceosome genes that are involved in cancers, SF3B1 is most frequently mutated...
  52. Lin C, Hou H, Chou W, Kuo Y, Wu S, Liu C, et al. SF3B1 mutations in patients with myelodysplastic syndromes: the mutation is stable during disease evolution. Am J Hematol. 2014;89:E109-15 pubmed publisher
    The SF3B1 mutation can be detected in patients with myelodysplastic syndrome (MDS), but the report regarding the association of this mutation with other genetic alterations and its stability during disease progression is limited...
  53. Avila M, Bercovich N, Westergaard G, Levin M, Vazquez M. Mapping of the protein-binding interface between splicing factors SF3b155 and p14 of Trypanosoma cruzi. Biochem Biophys Res Commun. 2007;364:26-32 pubmed
    b>SF3b155 and p14 are essential components of spliceosome core that recognize the branch point adenosine, a critical step in splicing in eukaryotes...
  54. Zhu Y, Li X, Chang C, Xu F, He Q, Guo J, et al. SF3B1-mutated myelodysplastic syndrome with ring sideroblasts harbors more severe iron overload and corresponding over-erythropoiesis. Leuk Res. 2016;44:8-16 pubmed publisher
    To clarify the possible biological differences and implication of the SF3B1 gene for patients with MDS-RS (myelodysplastic syndromes with ring sideroblasts)...
  55. Schilling B, Bielefeld N, Sucker A, Hillen U, Zimmer L, Schadendorf D, et al. Lack of SF3B1 R625 mutations in cutaneous melanoma. Diagn Pathol. 2013;8:87 pubmed publisher
    ..Hotspot mutations in SF3B1 were recently reported in uveal melanoma. Our aim was to see if these mutations also occur in cutaneous melanoma.
  56. Moriel Carretero M, Ovejero S, Gérus Durand M, Vryzas D, Constantinou A. Fanconi anemia FANCD2 and FANCI proteins regulate the nuclear dynamics of splicing factors. J Cell Biol. 2017;216:4007-4026 pubmed publisher
    ..Here we show that FANCI and FANCD2 associate with splicing factor 3B1 (SF3B1), a key spliceosomal protein of the U2 small nuclear ribonucleoprotein (U2 snRNP)...
  57. Ciabatti E, Valetto A, Bertini V, Ferreri M, Guazzelli A, Grassi S, et al. Myelodysplastic syndromes: advantages of a combined cytogenetic and molecular diagnostic workup. Oncotarget. 2017;8:79188-79200 pubmed publisher
    ..FISH for chromosome 5, 7, 8 and PDGFR rearrangements, aCGH, and PCR for ASXL1, EZH2, TP53, TET2, RUNX1, DNMT3A, SF3B1 somatic mutations...
  58. Patel B, Przychodzen B, Thota S, Radivoyevitch T, Visconte V, Kuzmanovic T, et al. Genomic determinants of chronic myelomonocytic leukemia. Leukemia. 2017;31:2815-2823 pubmed publisher
    ..In contrast, dysplastic features correlated with mutations usually encountered in MDS (for example, SF3B1 and U2AF1)...
  59. Damm F, Thol F, Kosmider O, Kade S, Löffeld P, Dreyfus F, et al. SF3B1 mutations in myelodysplastic syndromes: clinical associations and prognostic implications. Leukemia. 2012;26:1137-40 pubmed publisher
  60. Küsters Vandevelde H, Creytens D, van Engen van Grunsven A, Jeunink M, Winnepenninckx V, Groenen P, et al. SF3B1 and EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas. Acta Neuropathol Commun. 2016;4:5 pubmed publisher
    ..However, it is currently unknown whether these LMNs harbor mutations in BAP1, SF3B1 and/or EIF1AX like uveal melanomas as well...
  61. Ojha J, Ayres J, Secreto C, Tschumper R, Rabe K, VAN DYKE D, et al. Deep sequencing identifies genetic heterogeneity and recurrent convergent evolution in chronic lymphocytic leukemia. Blood. 2015;125:492-8 pubmed publisher
    ..The phenomenon affects multiple CLL putative driver abnormalities, including mutations in NOTCH1, SF3B1, DDX3X, and del(11q23)...
  62. te Raa G, Derks I, Navrkalova V, Skowronska A, Moerland P, van Laar J, et al. The impact of SF3B1 mutations in CLL on the DNA-damage response. Leukemia. 2015;29:1133-42 pubmed publisher
    ..Genome-wide sequencing has uncovered novel mutations in the splicing factor sf3b1, that were in part associated with ATM aberrations, suggesting functional synergy...
  63. Ambaglio I, Malcovati L, Papaemmanuil E, Laarakkers C, Della Porta M, Gallì A, et al. Inappropriately low hepcidin levels in patients with myelodysplastic syndrome carrying a somatic mutation of SF3B1. Haematologica. 2013;98:420-3 pubmed publisher
    ..In particular, a strong association has been found between SF3B1 mutation and refractory anemia with ring sideroblasts, a condition characterized by ineffective erythropoiesis and ..
  64. Rodríguez Vicente A, Díaz M, Hernandez Rivas J. Chronic lymphocytic leukemia: a clinical and molecular heterogenous disease. Cancer Genet. 2013;206:49-62 pubmed publisher
    ..Of these, NOTCH1 and SF3B1 are the most frequently mutated genes that predict poor prognosis...
  65. Rasi S, Khiabanian H, Ciardullo C, Terzi di Bergamo L, Monti S, Spina V, et al. Clinical impact of small subclones harboring NOTCH1, SF3B1 or BIRC3 mutations in chronic lymphocytic leukemia. Haematologica. 2016;101:e135-8 pubmed publisher
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    ..and has previously been shown to have a high proportion of JAK2(V617F) (Janus Kinase 2) and SF3B1 (Splicing Factor 3B subunit 1) mutations...
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    ..Antibodies against Cus1p coimmunoprecipitate U2 snRNA, as well as Hsh155p, a protein homologous to human SAP155. Biochemical fractionation of splicing extracts and reconstitution of heat-inactivated splicing extracts from ..
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    ..While investigating the coding genome of fludarabine-refractory CLL, we observed that mutations of SF3B1, encoding a splicing factor and representing a critical component of the cell spliceosome, were recurrent in 10 of ..