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Cryptic splicing events in the iron transporter ABCB7 and other key target genes in SF3B1 mutant myelodysplastic syndromes

Abstract:

The splicing factor SF3B1 is the most frequently mutated gene in the myelodysplastic syndromes (MDS), and is strongly associated with the presence of ring sideroblasts (RS). We have performed a systematic analysis of cryptic splicing abnormalities from RNA-sequencing data on hematopoietic stem cells (HSCs) of SF3B1-mutant MDS cases with RS. Aberrant splicing events in many downstream target genes were identified and cryptic 3’ splice site usage was a frequent event in SF3B1-mutant MDS. The ir...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1038/leu.2016.149

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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, RDM Clinical Laboratory Sciences
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, Weatherall Institute of Molecular Medicine
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Institution:
University of Oxford
Department:
Oxford, MSD, RDM, RDM Clinical Laboratory Sciences
More by this author
Institution:
University of Oxford
Department:
Oxford, MSD, RDM, RDM - Investigative Medicine Division
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Publisher:
Nature Publishing Group Publisher's website
Journal:
Leukemia Journal website
Publication date:
2016-05-05
DOI:
ISSN:
1476-5551
URN:
uuid:46994c45-0b3f-4e2c-905d-5941b425a74d
Source identifiers:
622858
Local pid:
pubs:622858

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