Disease-Causing Mutations in SF3B1 Alter Splicing by Disrupting Interaction with SUGP1

SF3B1, which encodes an essential spliceosomal protein, is frequently mutated in myelodysplastic syndromes (MDS) and many cancers. However, the defect of mutant SF3B1 is unknown. Here, we analyzed RNA-sequencing data from MDS patients and confirmed that SF3B1 mutants use aberrant 3′ splice sites. To...

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I publikationen:Mol Cell
Huvudupphovsmän: Zhang, Jian, Ali, Abdullah M., Lieu, Yen K., Liu, Zhaoqi, Gao, Jianchao, Rabadan, Raul, Raza, Azra, Mukherjee, Siddhartha, Manley, James L.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2019
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7065273/
https://ncbi.nlm.nih.gov/pubmed/31474574
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.molcel.2019.07.017
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