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

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.

SUBMITTER: Beauchamp EM 

PROVIDER: S-EPMC8462124 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature

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<i>ZBTB33</i> is mutated in clonal hematopoiesis and myelodysplastic syndromes and impacts RNA splicing.

Beauchamp Ellen M EM   Leventhal Matthew M   Bernard Elsa E   Hoppe Emma R ER   Todisco Gabriele G   Creignou Maria M   Gallì Anna A   Castellano Cecilia A CA   McConkey Marie M   Tarun Akansha A   Wong Waihay W   Schenone Monica M   Stanclift Caroline C   Tanenbaum Benjamin B   Malolepsza Edyta E   Nilsson Björn B   Bick Alexander G AG   Weinstock Joshua S JS   Miller Mendy M   Niroula Abhishek A   Dunford Andrew A   Taylor-Weiner Amaro A   Wood Timothy T   Barbera Alex A   Anand Shankara S   Psaty Bruce M BM   Desai Pinkal P   Cho Michael H MH   Johnson Andrew D AD   Loos Ruth R   MacArthur Daniel G DG   Lek Monkol M   Neuberg Donna S DS   Lage Kasper K   Carr Steven A SA   Hellstrom-Lindberg Eva E   Malcovati Luca L   Papaemmanuil Elli E   Stewart Chip C   Getz Gad G   Bradley Robert K RK   Jaiswal Siddhartha S   Ebert Benjamin L BL  

Blood cancer discovery 20210714 5

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, <i>ZBTB33</i>, as well as in <i>YLPM1</i>, <i>SRCAP</i>, and <i>ZNF318</i>. We also identified these mutations at low frequency in myelodysplastic syndrome patients. <i>Zbtb33</i> edited mouse hematopoietic ste  ...[more]

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