ArticleCancer cell2016
Transcriptomic Characterization of SF3B1 Mutation Reveals Its Pleiotropic Effects in Chronic Lymphocytic Leukemia.
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Article in Cancer cell, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 141 papers, 1 of them a synthesis that pooled it.
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141citing papers in PubMed, 1 pooled it
14.5field-weighted citation impact, top 1% of its field
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Who cites it
141 citing papers in PubMed, 1 synthesis or guideline pooled it, 215 citations in OpenAlex.
- Alternative splicing and cancer: a systematic review.Signal transduction and targeted therapy · 2021Pooled it
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- Splicing-driven post-translational dysregulation: a new frontier for precision cancer medicine and immunotherapy.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Review
- Proteogenomic features define subtypes of mantle cell lymphoma.Blood advances · 2026Article
- Spliceosomal mutation drives melanoma tumorigenesis via lineage-specific RAS activation.Science advances · 2026Article
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- Rare coding and noncoding variants map 1,342 diseases and biomarkers in 490,549 whole genomes.medRxiv : the preprint server for health sciences · 2026Article
- Cancer-associated SF3B1 mutation suppresses DNA repair by disrupting the organization of nuclear actin network.Cell death & disease · 2026Article
- The human branchpoint-interacting stem-loop sequence and structure regulates U2 snRNA expression, branchpoint recognition, and the transcriptome.Nucleic acids research · 2026Article
- Species-level enumeration of low-concentration lactic acid bacteria in breast milk.Food chemistry. Molecular sciences · 2025Article
- mRNA Isoforms and Variants in Health and Disease.International journal of molecular sciences · 2025Review
- The human branchpoint-interacting stem loop sequence and structure regulates U2 snRNA expression, branchpoint recognition, and transcriptome.bioRxiv : the preprint server for biology · 2025Article
- Ketogenic Metabolism in Neurodegenerative Diseases: Mechanisms of Action and Therapeutic Potential.Metabolites · 2025Review
- Nanopore direct RNA sequencing of human transcriptomes reveals the complexity of mRNA modifications and crosstalk between regulatory features.Cell genomics · 2025Article
- Role of HSF1 in cell division, tumorigenesis and therapy: a literature review.Cell division · 2025Review
- Identification of UBA7 expression downregulation in myelodysplastic neoplasm with SF3B1 mutations.Scientific reports · 2025Article
- Genetic Profiling of Acute and Chronic Leukemia via Next-Generation Sequencing: Current Insights and Future Perspectives.Hematology reports · 2025Review
- Advancing the therapeutic effectiveness of paclitaxel in chronic lymphocytic leukemia through the simultaneous inhibition of NOTCH1 and SF3B1.Cancer cell international · 2025Article
81 more citing papers are in PubMed but not listed here.
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Authors and funding
35 authors at 6 institutions in 2 countries.
Lili WangDepartment of Medical Oncology, Dana-Farber Cancer Institute, Dana 540, 44 Binney Street, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.
Angela N BrooksDepartment of Medical Oncology, Dana-Farber Cancer Institute, Dana 540, 44 Binney Street, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02141, USA; University of California, Santa Cruz, CA 95064, USA.
Jean FanDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.
Youzhong WanDepartment of Medical Oncology, Dana-Farber Cancer Institute, Dana 540, 44 Binney Street, Boston, MA 02115, USA; National Engineering Laboratory of AIDS Vaccine, School of Life Science, Jilin University, Changchun, Jilin, PRC.
Rutendo GambeDepartment of Medical Oncology, Dana-Farber Cancer Institute, Dana 540, 44 Binney Street, Boston, MA 02115, USA.
Shuqiang LiFluidigm Corporation, South San Francisco, CA 94080, USA.
Sarah HergertDepartment of Medical Oncology, Dana-Farber Cancer Institute, Dana 540, 44 Binney Street, Boston, MA 02115, USA.
Shanye YinDepartment of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Samuel S FreemanBroad Institute of MIT and Harvard, Cambridge, MA 02141, USA.
Joshua Z LevinBroad Institute of MIT and Harvard, Cambridge, MA 02141, USA.
Lin FanBroad Institute of MIT and Harvard, Cambridge, MA 02141, USA.
Michael SeilerH3 Biomedicine, Cambridge, MA 02141, USA.
Silvia BuonamiciH3 Biomedicine, Cambridge, MA 02141, USA.
Peter G SmithH3 Biomedicine, Cambridge, MA 02141, USA.
Kevin F ChauHarvard Medical School, Boston, MA 02115, USA.
Carrie L CibulskisBroad Institute of MIT and Harvard, Cambridge, MA 02141, USA.
Wandi ZhangDepartment of Medical Oncology, Dana-Farber Cancer Institute, Dana 540, 44 Binney Street, Boston, MA 02115, USA.
Laura Z RassentiMoores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.
Emanuela M GhiaMoores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.
Thomas J KippsMoores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA.
Stacey FernandesDepartment of Medical Oncology, Dana-Farber Cancer Institute, Dana 540, 44 Binney Street, Boston, MA 02115, USA.
Donald B BlochCenter for Immunology and Inflammatory Disease, Massachusetts General Hospital, Boston, MA 02115, USA.
Dylan KotliarHarvard Medical School, Boston, MA 02115, USA.
Dan A LandauDepartment of Medical Oncology, Dana-Farber Cancer Institute, Dana 540, 44 Binney Street, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.
Sachet A ShuklaDepartment of Medical Oncology, Dana-Farber Cancer Institute, Dana 540, 44 Binney Street, Boston, MA 02115, USA.
Jon C AsterDepartment of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA.
Robin ReedDepartment of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
David S DeLucaBroad Institute of MIT and Harvard, Cambridge, MA 02141, USA.
Jennifer R BrownDepartment of Medical Oncology, Dana-Farber Cancer Institute, Dana 540, 44 Binney Street, Boston, MA 02115, USA; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Donna NeubergBiostatistics and Computational Biology, Dana-Farber Cancer Institute, Boston, MA 02115, USA.
Gad GetzBroad Institute of MIT and Harvard, Cambridge, MA 02141, USA.
Kenneth J LivakFluidigm Corporation, South San Francisco, CA 94080, USA.
Matthew M MeyersonDepartment of Medical Oncology, Dana-Farber Cancer Institute, Dana 540, 44 Binney Street, Boston, MA 02115, USA.
Peter V KharchenkoDepartment of Biomedical Informatics, Harvard Medical School, Boston, MA 02115, USA.
Catherine J WuDepartment of Medical Oncology, Dana-Farber Cancer Institute, Dana 540, 44 Binney Street, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02141, USA; Department of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA. Electronic address: cwu@partners.org.
Dana-Farber Cancer Institute · USBroad Institute · USHarvard University · USUniversity of California, San Diego · USBrigham and Women's Hospital · USMassachusetts General Hospital · US
Funding
Tissue CoreP01CA081534 · NCI · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI KIPPS, THOMAS J · 2000 to 2016
$59.5MMedical Scientist Training ProgramT32GM007753 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI WALENSKY, LOREN DAVID · 1985 to 2021
$50.0MProteomicsP01CA206978 · NCI · DANA-FARBER CANCER INST · PI CARR, STEVEN A · 2016 to 2025
$17.0MMECHANISMS OF PREMRNA SPLICING IN HIGHER EUKARYOTESR01GM043375 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI REED, ROBIN E. · 1990 to 2015
$12.6MPersonal tumor neoantigens for immunity against chronic lymphocytic leukemiaR01CA155010 · NCI · DANA-FARBER CANCER INST · PI Catherine Ju-Ying Wu · 2011 to 2026
$9.6MITSC for Leukemia: Novel Molecular Strategies for NCTN: "Individualized" TherapieU10CA180861 · NCI · OHIO STATE UNIVERSITY · PI BLOOMFIELD, CLARA D, MARCUCCI, GUIDO · 2014 to 2018
$3.4MStatistical methods for analysis of single-cell variabilityR01HL131768 · NHLBI · HARVARD MEDICAL SCHOOL · PI KHARCHENKO, PETER V · 2015 to 2019
$2.4M(PQD1) lmpact of cytotoxic and targeted therapy on clonal evolution of CLLR01CA184922 · NCI · DANA-FARBER CANCER INST · PI WU, CATHERINE JU-YING · 2014 to 2017
$2.2MThe role of the SF3B1 splicing factor in chronic lymphocytic leukemiaR01HL116452 · NHLBI · DANA-FARBER CANCER INST · PI WU, CATHERINE JU-YING · 2013 to 2017
$2.1MDefining the impact of clonal evolution on chronic lymphocytic leukemiaR01CA182461 · NCI · DANA-FARBER CANCER INST · PI WU, CATHERINE JU-YING · 2014 to 2018
$1.8MPost-transplant vaccines to enhance graft-versus-leukemia responsesR01HL103532 · NHLBI · DANA-FARBER CANCER INST · PI WU, CATHERINE JU-YING · 2010 to 2013
$1.7MImmunogenomic analytical approaches for research and clinical applicationsR50CA211482 · NCI · DANA-FARBER CANCER INST · PI SHUKLA, SACHET ASHOK · 2016 to 2020
$1.3MNCI NIH HHS F31 CA206236NCI NIH HHS P01 CA081534NCI NIH HHS P01 CA206978NCI NIH HHS R01 CA155010NCI NIH HHS R01 CA182461NCI NIH HHS R01 CA184922NCI NIH HHS R50 CA211482NCI NIH HHS U10 CA180861NHLBI NIH HHS R01 HL103532NHLBI NIH HHS R01 HL116452NHLBI NIH HHS R01 HL131768NIGMS NIH HHS R01 GM043375NIGMS NIH HHS T32 GM007753
Abstract
Mutations in SF3B1, which encodes a spliceosome component, are associated with poor outcome in chronic lymphocytic leukemia (CLL), but how these contribute to CLL progression remains poorly understood. We undertook a transcriptomic characterization of primary human CLL cells to identify transcripts and pathways affected by SF3B1 mutation. Splicing alterations, identified in the analysis of bulk cells, were confirmed in single SF3B1-mutated CLL cells and also found in cell lines ectopically expressing mutant SF3B1. SF3B1 mutation was found to dysregulate multiple cellular functions including DNA damage response, telomere maintenance, and Notch signaling (mediated through KLF8 upregulation, increased TERC and TERT expression, or altered splicing of DVL2 transcript, respectively). SF3B1 mutation leads to diverse changes in CLL-related pathways.
Indexed as
Alternative SplicingMutationCell Line, TumorDishevelled ProteinsGene Expression ProfilingGene Expression Regulation, NeoplasticHumansLeukemia, Lymphocytic, Chronic, B-CellPhosphoproteinsReceptors, NotchRNA Splicing FactorsSignal TransductionDishevelled ProteinsDVL2 protein, humanPhosphoproteinsReceptors, NotchRNA Splicing FactorsSF3B1 protein, humanalternative splicingCLLNotch signalingRNA sequencingSF3B1
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