Literature DB >> 22200771

Spliceosome mutations in hematopoietic malignancies.

Christopher N Hahn1, Hamish S Scott.   

Abstract

Recent studies, including two in this issue, report heterozygous missense mutations in the U2AF1 and SF3B1 genes that encode spliceosome subunits. U2AF1 is frequently mutated in myeloid hematopoietic malignancies, especially in myelodysplastic syndrome (MDS), and SF3B1 is frequently mutated in both MDS and chronic lymphocytic leukemia (CLL).

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Year:  2011        PMID： 22200771     DOI： 10.1038/ng.1045

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  8 in total

1.  SF3B1 mutations in primary myelofibrosis: clinical, histopathology and genetic correlates among 155 patients.

Authors:  T L Lasho; C M Finke; C A Hanson; T Jimma; R A Knudson; R P Ketterling; A Pardanani; A Tefferi
Journal:  Leukemia       Date:  2011-11-08       Impact factor: 11.528

2.  Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.

Authors:  Víctor Quesada; Laura Conde; Neus Villamor; Gonzalo R Ordóñez; Pedro Jares; Laia Bassaganyas; Andrew J Ramsay; Sílvia Beà; Magda Pinyol; Alejandra Martínez-Trillos; Mónica López-Guerra; Dolors Colomer; Alba Navarro; Tycho Baumann; Marta Aymerich; María Rozman; Julio Delgado; Eva Giné; Jesús M Hernández; Marcos González-Díaz; Diana A Puente; Gloria Velasco; José M P Freije; José M C Tubío; Romina Royo; Josep L Gelpí; Modesto Orozco; David G Pisano; Jorge Zamora; Miguel Vázquez; Alfonso Valencia; Heinz Himmelbauer; Mónica Bayés; Simon Heath; Marta Gut; Ivo Gut; Xavier Estivill; Armando López-Guillermo; Xose S Puente; Elías Campo; Carlos López-Otín
Journal:  Nat Genet       Date:  2011-12-11       Impact factor: 38.330

3.  A computational scan for U12-dependent introns in the human genome sequence.

Authors:  A Levine; R Durbin
Journal:  Nucleic Acids Res       Date:  2001-10-01       Impact factor: 16.971

4.  Frequent pathway mutations of splicing machinery in myelodysplasia.

Authors:  Kenichi Yoshida; Masashi Sanada; Yuichi Shiraishi; Daniel Nowak; Yasunobu Nagata; Ryo Yamamoto; Yusuke Sato; Aiko Sato-Otsubo; Ayana Kon; Masao Nagasaki; George Chalkidis; Yutaka Suzuki; Masashi Shiosaka; Ryoichiro Kawahata; Tomoyuki Yamaguchi; Makoto Otsu; Naoshi Obara; Mamiko Sakata-Yanagimoto; Ken Ishiyama; Hiraku Mori; Florian Nolte; Wolf-Karsten Hofmann; Shuichi Miyawaki; Sumio Sugano; Claudia Haferlach; H Phillip Koeffler; Lee-Yung Shih; Torsten Haferlach; Shigeru Chiba; Hiromitsu Nakauchi; Satoru Miyano; Seishi Ogawa
Journal:  Nature       Date:  2011-09-11       Impact factor: 49.962

5.  Self-renewing hematopoietic stem cell is the primary target in pathogenesis of human chronic lymphocytic leukemia.

Authors:  Yoshikane Kikushige; Fumihiko Ishikawa; Toshihiro Miyamoto; Takahiro Shima; Shingo Urata; Goichi Yoshimoto; Yasuo Mori; Tadafumi Iino; Takuji Yamauchi; Tetsuya Eto; Hiroaki Niiro; Hiromi Iwasaki; Katsuto Takenaka; Koichi Akashi
Journal:  Cancer Cell       Date:  2011-08-16       Impact factor: 31.743

Review 6.  The cancer genome.

Authors:  Michael R Stratton; Peter J Campbell; P Andrew Futreal
Journal:  Nature       Date:  2009-04-09       Impact factor: 49.962

7.  Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

Authors:  E Papaemmanuil; M Cazzola; J Boultwood; L Malcovati; P Vyas; D Bowen; A Pellagatti; J S Wainscoat; E Hellstrom-Lindberg; C Gambacorti-Passerini; A L Godfrey; I Rapado; A Cvejic; R Rance; C McGee; P Ellis; L J Mudie; P J Stephens; S McLaren; C E Massie; P S Tarpey; I Varela; S Nik-Zainal; H R Davies; A Shlien; D Jones; K Raine; J Hinton; A P Butler; J W Teague; E J Baxter; J Score; A Galli; M G Della Porta; E Travaglino; M Groves; S Tauro; N C Munshi; K C Anderson; A El-Naggar; A Fischer; V Mustonen; A J Warren; N C P Cross; A R Green; P A Futreal; M R Stratton; P J Campbell
Journal:  N Engl J Med       Date:  2011-09-26       Impact factor: 91.245

8.  Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes.

Authors:  Timothy A Graubert; Dong Shen; Li Ding; Theresa Okeyo-Owuor; Cara L Lunn; Jin Shao; Kilannin Krysiak; Christopher C Harris; Daniel C Koboldt; David E Larson; Michael D McLellan; David J Dooling; Rachel M Abbott; Robert S Fulton; Heather Schmidt; Joelle Kalicki-Veizer; Michelle O'Laughlin; Marcus Grillot; Jack Baty; Sharon Heath; John L Frater; Talat Nasim; Daniel C Link; Michael H Tomasson; Peter Westervelt; John F DiPersio; Elaine R Mardis; Timothy J Ley; Richard K Wilson; Matthew J Walter
Journal:  Nat Genet       Date:  2011-12-11       Impact factor: 38.330
  8 in total
  29 in total

Review 1.  Splicing Factor Mutations in Myelodysplasias: Insights from Spliceosome Structures.

Authors:  Jermaine L Jenkins; Clara L Kielkopf
Journal:  Trends Genet       Date:  2017-03-31       Impact factor: 11.639

2.  Integration of B-cell receptor-induced ERK1/2 phosphorylation and mutations of SF3B1 gene refines prognosis in treatment-naïve chronic lymphocytic leukemia.

Authors:  Chiara Cavallini; Carlo Visco; Santosh Putta; Davide Rossi; Elda Mimiola; Norman Purvis; Ornella Lovato; Omar Perbellini; Erika Falisi; Monica Facco; Livio Trentin; Maria G Romanelli; Gianpietro Semenzato; Achille Ambrosetti; Gianluca Gaidano; Giovanni Pizzolo; Alessandra Cesano; Maria T Scupoli
Journal:  Haematologica       Date:  2016-12-07       Impact factor: 9.941

Review 3.  Mechanisms and Regulation of Alternative Pre-mRNA Splicing.

Authors:  Yeon Lee; Donald C Rio
Journal:  Annu Rev Biochem       Date:  2015-03-12       Impact factor: 23.643

4.  Muscleblind-like 1 (Mbnl1) regulates pre-mRNA alternative splicing during terminal erythropoiesis.

Authors:  Albert W Cheng; Jiahai Shi; Piu Wong; Katherine L Luo; Paula Trepman; Eric T Wang; Heejo Choi; Christopher B Burge; Harvey F Lodish
Journal:  Blood       Date:  2014-05-28       Impact factor: 22.113

Review 5.  Molecular pathogenesis of chronic lymphocytic leukemia.

Authors:  Gianluca Gaidano; Robin Foà; Riccardo Dalla-Favera
Journal:  J Clin Invest       Date:  2012-10-01       Impact factor: 14.808

6.  Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.

Authors:  Marcel Martin; Lars Maßhöfer; Petra Temming; Sven Rahmann; Claudia Metz; Norbert Bornfeld; Johannes van de Nes; Ludger Klein-Hitpass; Alan G Hinnebusch; Bernhard Horsthemke; Dietmar R Lohmann; Michael Zeschnigk
Journal:  Nat Genet       Date:  2013-06-23       Impact factor: 38.330

7.  In vivo mutation of pre-mRNA processing factor 8 (Prpf8) affects transcript splicing, cell survival and myeloid differentiation.

Authors:  Maria-Cristina Keightley; Meredith O Crowhurst; Judith E Layton; Traude Beilharz; Sebastian Markmiller; Sony Varma; Benjamin M Hogan; Tanya A de Jong-Curtain; Joan K Heath; Graham J Lieschke
Journal:  FEBS Lett       Date:  2013-05-25       Impact factor: 4.124

Review 8.  The development and application of small molecule modulators of SF3b as therapeutic agents for cancer.

Authors:  Thomas R Webb; Amanda S Joyner; Philip M Potter
Journal:  Drug Discov Today       Date:  2012-08-03       Impact factor: 7.851

9.  Genetic characterization of SF3B1 mutations in single chronic lymphocytic leukemia cells.

Authors:  X Wu; R C Tschumper; D F Jelinek
Journal:  Leukemia       Date:  2013-05-20       Impact factor: 11.528

10.  Spliceosomal component Sf3b1 is essential for hematopoietic differentiation in zebrafish.

Authors:  Adriana De La Garza; Rosannah C Cameron; Sara Nik; Sara G Payne; Teresa V Bowman
Journal:  Exp Hematol       Date:  2016-06-01       Impact factor: 3.084
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