دورية أكاديمية
أعرض في EDS

SF3B1 mutation and ATM deletion codrive leukemogenesis via centromeric R-loop dysregulation.

التفاصيل البيبلوغرافية
العنوان: SF3B1 mutation and ATM deletion codrive leukemogenesis via centromeric R-loop dysregulation.
المؤلفون: Cusan M; Department of Systems Biology, Beckman Research Institute of the City of Hope, Monrovia, California, USA., Shen H; Department of Systems Biology, Beckman Research Institute of the City of Hope, Monrovia, California, USA., Zhang B; Department of Systems Biology, Beckman Research Institute of the City of Hope, Monrovia, California, USA.; Department of Hematology, Union Hospital Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China., Liao A; Department of Systems Biology, Beckman Research Institute of the City of Hope, Monrovia, California, USA.; Department of Hematology, Affiliated Shengjing Hospital of China Medical University, Shenyang, China., Yang L; Department of Systems Biology, Beckman Research Institute of the City of Hope, Monrovia, California, USA., Jin M; Department of Systems Biology, Beckman Research Institute of the City of Hope, Monrovia, California, USA., Fernandez M; Department of Systems Biology, Beckman Research Institute of the City of Hope, Monrovia, California, USA.; Irell and Manella Graduate School of Biological Sciences, Beckman Research Institute of the City of Hope, Duarte, California, USA., Iyer P; Department of Systems Biology, Beckman Research Institute of the City of Hope, Monrovia, California, USA., Wu Y; Department of Systems Biology, Beckman Research Institute of the City of Hope, Monrovia, California, USA., Hart K; Department of Systems Biology, Beckman Research Institute of the City of Hope, Monrovia, California, USA., Gutierrez C; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA., Nik S; Gottesman Institute for Stem Cell Biology and Regenerative Medicine and.; Department of Developmental and Molecular Biology, Albert Einstein College of Medicine, New York, New York, USA., Pruett-Miller SM; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Stark J; Department of Cancer Genetics and Epigenetics, Beckman Research Institute of the City of Hope, Duarte, California, USA., Obeng EA; Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA., Bowman TV; Gottesman Institute for Stem Cell Biology and Regenerative Medicine and.; Department of Developmental and Molecular Biology, Albert Einstein College of Medicine, New York, New York, USA., Wu CJ; Department of Medical Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts, USA., Lin RJ; Center for RNA Biology and Therapeutics, Beckman Research Institute of the City of Hope, Duarte, California, USA., Wang L; Department of Systems Biology, Beckman Research Institute of the City of Hope, Monrovia, California, USA.
المصدر: The Journal of clinical investigation [J Clin Invest] 2023 Sep 01; Vol. 133 (17). Date of Electronic Publication: 2023 Sep 01.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
اللغة: English
بيانات الدورية: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Electronic Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE
أسماء مطبوعة: Publication: 1999- : Ann Arbor, MI : American Society for Clinical Investigation
Original Publication: New Haven [etc.] American Society for Clinical Investigation.
مواضيع طبية MeSH: Leukemia, Lymphocytic, Chronic, B-Cell*/genetics , Leukemia, Lymphocytic, Chronic, B-Cell*/pathology, Humans ; R-Loop Structures ; Phosphoproteins/genetics ; Phosphoproteins/metabolism ; Mutation ; RNA Splicing Factors/genetics ; RNA Splicing Factors/metabolism ; Ataxia Telangiectasia Mutated Proteins/metabolism
مستخلص: RNA splicing factor SF3B1 is recurrently mutated in various cancers, particularly in hematologic malignancies. We previously reported that coexpression of Sf3b1 mutation and Atm deletion in B cells, but not either lesion alone, leads to the onset of chronic lymphocytic leukemia (CLL) with CLL cells harboring chromosome amplification. However, the exact role of Sf3b1 mutation and Atm deletion in chromosomal instability (CIN) remains unclear. Here, we demonstrated that SF3B1 mutation promotes centromeric R-loop (cen-R-loop) accumulation, leading to increased chromosome oscillation, impaired chromosome segregation, altered spindle architecture, and aneuploidy, which could be alleviated by removal of cen-R-loop and exaggerated by deletion of ATM. Aberrant splicing of key genes involved in R-loop processing underlay augmentation of cen-R-loop, as overexpression of the normal isoform, but not the altered form, mitigated mitotic stress in SF3B1-mutant cells. Our study identifies a critical role of splice variants in linking RNA splicing dysregulation and CIN and highlights cen-R-loop augmentation as a key mechanism for leukemogenesis.
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معلومات مُعتمدة: R01 CA216273 United States CA NCI NIH HHS; R01 CA240910 United States CA NCI NIH HHS
فهرسة مساهمة: Keywords: Cancer; DNA repair; Oncology
المشرفين على المادة: 0 (Phosphoproteins)
0 (RNA Splicing Factors)
0 (SF3B1 protein, human)
EC 2.7.11.1 (ATM protein, human)
EC 2.7.11.1 (Ataxia Telangiectasia Mutated Proteins)
تواريخ الأحداث: Date Created: 20230718 Date Completed: 20230904 Latest Revision: 20240722
رمز التحديث: 20240722
مُعرف محوري في PubMed: PMC10471171
DOI: 10.1172/JCI163325
PMID: 37463047
قاعدة البيانات: MEDLINE
الوصف
تدمد:1558-8238
DOI:10.1172/JCI163325