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Effect of mutation in U2AF1 on splicing

ABSTRACT: U2AF1 is an important component of the spliceosome complex required for pre-mRNA splicing.Mutations in U2AF1 have been described in myeloid neoplasms, with variants causing specific alterations in 3′ splice site recognition. U2AF1 mutations (MT) are typically acquired later in life and associated with rapid rates of progression to MDS and AML. But how mutations affect U2AF1 function has only begun to be examined. Here we used CRISPR/Cas9 to introduce the S34F mutation to U2AF1 in K562 leukemia cells, generating an isogenic model so that splicing alterations can be attributed solely to mutant U2AF1.

ORGANISM(S): Homo sapiens

PROVIDER: GSE285785 | GEO | 2025/07/03

REPOSITORIES: GEO

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Mutant U2AF1-Induced Alternative Splicing of H2afy (macroH2A1) Regulates B-Lymphopoiesis in Mice

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RNA sequencing of common myeloid progenitors following short term induction of mutant U2AF1(S34F) expression in transgenic mice

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