Literature DB >> 34568833

ZBTB33 is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing.

Siddhartha Jaiswal1, Benjamin L Ebert2,3,4, Ellen M Beauchamp5,3, Matthew Leventhal5,3, Elsa Bernard6, Emma R Hoppe7,8,9, Gabriele Todisco10,11, Maria Creignou11, Anna Gallì10, Cecilia A Castellano5,3, Marie McConkey5,3, Akansha Tarun5,3, Waihay Wong5,3, Monica Schenone3, Caroline Stanclift3, Benjamin Tanenbaum3, Edyta Malolepsza3, Björn Nilsson5,3,12, Alexander G Bick3,13,14, Joshua S Weinstock15, Mendy Miller3, Abhishek Niroula5,3, Andrew Dunford3, Amaro Taylor-Weiner3, Timothy Wood3, Alex Barbera3, Shankara Anand3, Bruce M Psaty16,17, Pinkal Desai18, Michael H Cho19,20, Andrew D Johnson21, Ruth Loos22,23, Daniel G MacArthur3,24,25,26, Monkol Lek3,24,27, Donna S Neuberg28, Kasper Lage3,29, Steven A Carr3, Eva Hellstrom-Lindberg11, Luca Malcovati10, Elli Papaemmanuil6, Chip Stewart3, Gad Getz3,30,31, Robert K Bradley7,8,9.   

Abstract

Clonal hematopoiesis results from somatic mutations in cancer driver genes in hematopoietic stem cells. We sought to identify novel drivers of clonal expansion using an unbiased analysis of sequencing data from 84,683 persons and identified common mutations in the 5-methylcytosine reader, ZBTB33, as well as in YLPM1, SRCAP, and ZNF318. We also identified these mutations at low frequency in myelodysplastic syndrome patients. Zbtb33 edited mouse hematopoietic stem and progenitor cells exhibited a competitive advantage in vivo and increased genome-wide intron retention. ZBTB33 mutations potentially link DNA methylation and RNA splicing, the two most commonly mutated pathways in clonal hematopoiesis and MDS.

Entities:  

Keywords:  clonal hematopoiesis; hematologic malignancies; hematopoietic stem cells; myeloid neoplasia; somatic driver gene discovery

Mesh：

Substances：

Year:  2021        PMID： 34568833      PMCID： PMC8462124          DOI： 10.1158/2643-3230.BCD-20-0224

Source DB:  PubMed          Journal:  Blood Cancer Discov        ISSN： 2643-3230


  64 in total

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

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9.  Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2.

Authors:  J Nangalia; C E Massie; E J Baxter; F L Nice; G Gundem; D C Wedge; E Avezov; J Li; K Kollmann; D G Kent; A Aziz; A L Godfrey; J Hinton; I Martincorena; P Van Loo; A V Jones; P Guglielmelli; P Tarpey; H P Harding; J D Fitzpatrick; C T Goudie; C A Ortmann; S J Loughran; K Raine; D R Jones; A P Butler; J W Teague; S O'Meara; S McLaren; M Bianchi; Y Silber; D Dimitropoulou; D Bloxham; L Mudie; M Maddison; B Robinson; C Keohane; C Maclean; K Hill; K Orchard; S Tauro; M-Q Du; M Greaves; D Bowen; B J P Huntly; C N Harrison; N C P Cross; D Ron; A M Vannucchi; E Papaemmanuil; P J Campbell; A R Green
Journal:  N Engl J Med       Date:  2013-12-10       Impact factor: 91.245

10.  Widespread genetic heterogeneity in multiple myeloma: implications for targeted therapy.

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1.  Mcm2 hypomorph leads to acute leukemia or hematopoietic stem cell failure, dependent on genetic context.

Authors:  Toshihiro Matsukawa; Mianmian Yin; Timour Baslan; Yang Jo Chung; Dengchao Cao; Ryan Bertoli; Yuelin J Zhu; Robert L Walker; Amy Freeland; Erik Knudsen; Scott W Lowe; Paul S Meltzer; Peter D Aplan
Journal:  FASEB J       Date:  2022-09       Impact factor: 5.834

Review 2.  Clonal Hematopoiesis: Role in Hematologic and Non-Hematologic Malignancies.

Authors:  Ugo Testa; Germana Castelli; Elvira Pelosi
Journal:  Mediterr J Hematol Infect Dis       Date:  2022-09-01       Impact factor: 3.122

3.  Longitudinal profiling of clonal hematopoiesis provides insight into clonal dynamics.

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Review 4.  Molecular Pathways in Clonal Hematopoiesis: From the Acquisition of Somatic Mutations to Transformation into Hematologic Neoplasm.

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