Literature DB >> 29296742

Novel SF3B1 in-frame deletions result in aberrant RNA splicing in CLL patients.

Anant A Agrawal1, Michael Seiler1, Lindsey T Brinton2, Rose Mantel2, Rosa Lapalombella2, Jennifer A Woyach2, Amy J Johnson2, Ping Zhu1, Markus Warmuth1, Lihua Yu1, John C Byrd2, Peter G Smith1, James S Blachly2, Silvia Buonamici1.   

Abstract

We identify and characterize novel SF3B1 in-frame deletions in chronic lymphocytic leukemia.These deletions are functionally similar to well-known SF3B1 hotspot mutations and are sensitive to splicing modulation.

Entities:  

Year:  2017        PMID: 29296742      PMCID: PMC5728324          DOI: 10.1182/bloodadvances.2017007062

Source DB:  PubMed          Journal:  Blood Adv        ISSN: 2473-9529


  25 in total

Review 1.  The Spliceosome: The Ultimate RNA Chaperone and Sculptor.

Authors:  Panagiotis Papasaikas; Juan Valcárcel
Journal:  Trends Biochem Sci       Date:  2015-12-09       Impact factor: 13.807

2.  Frequent deletions and mutations of the beta-catenin gene are associated with overexpression of cyclin D1 and fibronectin and poorly differentiated histology in childhood hepatoblastoma.

Authors:  H Takayasu; H Horie; E Hiyama; T Matsunaga; Y Hayashi; Y Watanabe; S Suita; M Kaneko; F Sasaki; K Hashizume; T Ozaki; K Furuuchi; M Tada; N Ohnuma; A Nakagawara
Journal:  Clin Cancer Res       Date:  2001-04       Impact factor: 12.531

3.  SF3B1 and other novel cancer genes in chronic lymphocytic leukemia.

Authors:  Lili Wang; Michael S Lawrence; Youzhong Wan; Petar Stojanov; Carrie Sougnez; Kristen Stevenson; Lillian Werner; Andrey Sivachenko; David S DeLuca; Li Zhang; Wandi Zhang; Alexander R Vartanov; Stacey M Fernandes; Natalie R Goldstein; Eric G Folco; Kristian Cibulskis; Bethany Tesar; Quinlan L Sievers; Erica Shefler; Stacey Gabriel; Nir Hacohen; Robin Reed; Matthew Meyerson; Todd R Golub; Eric S Lander; Donna Neuberg; Jennifer R Brown; Gad Getz; Catherine J Wu
Journal:  N Engl J Med       Date:  2011-12-12       Impact factor: 91.245

Review 4.  Splicing factor mutations and cancer.

Authors:  Kenichi Yoshida; Seishi Ogawa
Journal:  Wiley Interdiscip Rev RNA       Date:  2014-02-12       Impact factor: 9.957

5.  Splicing factor SF3b as a target of the antitumor natural product pladienolide.

Authors:  Yoshihiko Kotake; Koji Sagane; Takashi Owa; Yuko Mimori-Kiyosue; Hajime Shimizu; Mai Uesugi; Yasushi Ishihama; Masao Iwata; Yoshiharu Mizui
Journal:  Nat Chem Biol       Date:  2007-07-22       Impact factor: 15.040

6.  Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3' Splice Site Selection through Use of a Different Branch Point.

Authors:  Rachel B Darman; Michael Seiler; Anant A Agrawal; Kian H Lim; Shouyong Peng; Daniel Aird; Suzanna L Bailey; Erica B Bhavsar; Betty Chan; Simona Colla; Laura Corson; Jacob Feala; Peter Fekkes; Kana Ichikawa; Gregg F Keaney; Linda Lee; Pavan Kumar; Kaiko Kunii; Crystal MacKenzie; Mark Matijevic; Yoshiharu Mizui; Khin Myint; Eun Sun Park; Xiaoling Puyang; Anand Selvaraj; Michael P Thomas; Jennifer Tsai; John Y Wang; Markus Warmuth; Hui Yang; Ping Zhu; Guillermo Garcia-Manero; Richard R Furman; Lihua Yu; Peter G Smith; Silvia Buonamici
Journal:  Cell Rep       Date:  2015-10-22       Impact factor: 9.423

7.  U2AF1 mutations alter splice site recognition in hematological malignancies.

Authors:  Janine O Ilagan; Aravind Ramakrishnan; Brian Hayes; Michele E Murphy; Ahmad S Zebari; Philip Bradley; Robert K Bradley
Journal:  Genome Res       Date:  2014-09-29       Impact factor: 9.043

8.  SF3B1/Hsh155 HEAT motif mutations affect interaction with the spliceosomal ATPase Prp5, resulting in altered branch site selectivity in pre-mRNA splicing.

Authors:  Qing Tang; Susana Rodriguez-Santiago; Jing Wang; Jia Pu; Andrea Yuste; Varun Gupta; Alberto Moldón; Yong-Zhen Xu; Charles C Query
Journal:  Genes Dev       Date:  2016-12-15       Impact factor: 11.361

9.  Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage.

Authors:  Samar Alsafadi; Alexandre Houy; Aude Battistella; Tatiana Popova; Michel Wassef; Emilie Henry; Franck Tirode; Angelos Constantinou; Sophie Piperno-Neumann; Sergio Roman-Roman; Martin Dutertre; Marc-Henri Stern
Journal:  Nat Commun       Date:  2016-02-04       Impact factor: 17.694

10.  Cancer-associated SF3B1 mutants recognize otherwise inaccessible cryptic 3' splice sites within RNA secondary structures.

Authors:  A K Kesarwani; O Ramirez; A K Gupta; X Yang; T Murthy; A C Minella; M M Pillai
Journal:  Oncogene       Date:  2016-08-15       Impact factor: 9.867

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  8 in total

1.  UBR5 HECT domain mutations identified in mantle cell lymphoma control maturation of B cells.

Authors:  Samantha A Swenson; Tyler J Gilbreath; Heather Vahle; R Willow Hynes-Smith; Jared H Graham; Henry C-H Law; Catalina Amador; Nicholas T Woods; Michael R Green; Shannon M Buckley
Journal:  Blood       Date:  2020-07-16       Impact factor: 22.113

2.  Splicing modulation sensitizes chronic lymphocytic leukemia cells to venetoclax by remodeling mitochondrial apoptotic dependencies.

Authors:  Elisa Ten Hacken; Rebecca Valentin; Fara Faye D Regis; Jing Sun; Shanye Yin; Lillian Werner; Jing Deng; Michaela Gruber; Jessica Wong; Mei Zheng; Amy L Gill; Michael Seiler; Peter Smith; Michael Thomas; Silvia Buonamici; Emanuela M Ghia; Ekaterina Kim; Laura Z Rassenti; Jan A Burger; Thomas J Kipps; Matthew L Meyerson; Pavan Bachireddy; Lili Wang; Robin Reed; Donna Neuberg; Ruben D Carrasco; Angela N Brooks; Anthony Letai; Matthew S Davids; Catherine J Wu
Journal:  JCI Insight       Date:  2018-10-04

3.  SF3B1 mutation predicts unfavorable treatment-free survival in Chinese chronic lymphocytic leukemia patients.

Authors:  Yi Miao; Yi-Xin Zou; Dan-Ling Gu; Hong-Cheng Zhu; Hua-Yuan Zhu; Li Wang; Jin-Hua Liang; Yi Xia; Jia-Zhu Wu; Chun-Lin Shao; Lei Fan; Zhen Zhang; Wei Xu; Jian-Yong Li
Journal:  Ann Transl Med       Date:  2019-04

4.  Degenerate minigene library analysis enables identification of altered branch point utilization by mutant splicing factor 3B1 (SF3B1).

Authors:  Abhishek K Gupta; Tushar Murthy; Kiran V Paul; Oscar Ramirez; Joseph B Fisher; Sridhar Rao; Alexander B Rosenberg; Georg Seelig; Alex C Minella; Manoj M Pillai
Journal:  Nucleic Acids Res       Date:  2019-01-25       Impact factor: 16.971

5.  Widespread Separation of the Polypyrimidine Tract From 3' AG by G Tracts in Association With Alternative Exons in Metazoa and Plants.

Authors:  Hai Nguyen; Jiuyong Xie
Journal:  Front Genet       Date:  2019-01-14       Impact factor: 4.599

6.  CtIP -mediated alternative mRNA splicing finetunes the DNA damage response.

Authors:  Rosario Prados-Carvajal; Guillermo Rodriguez-Real; Gabriel Gutierrez-Pozo; Pablo Huertas
Journal:  RNA       Date:  2020-12-09       Impact factor: 4.942

7.  Multi-omics reveals mitochondrial metabolism proteins susceptible for drug discovery in AML.

Authors:  Mika Caplan; Karli J Wittorf; Kasidy K Weber; Samantha A Swenson; Tyler J Gilbreath; R Willow Hynes-Smith; Catalina Amador; R Katherine Hyde; Shannon M Buckley
Journal:  Leukemia       Date:  2022-02-17       Impact factor: 12.883

8.  Rare and private spliceosomal gene mutations drive partial, complete, and dual phenocopies of hotspot alterations.

Authors:  Joseph Pangallo; Jean-Jacques Kiladjian; Bruno Cassinat; Aline Renneville; Justin Taylor; Jacob T Polaski; Khrystyna North; Omar Abdel-Wahab; Robert K Bradley
Journal:  Blood       Date:  2020-03-26       Impact factor: 25.476

  8 in total

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