Defective control of pre–messenger RNA splicing in human disease
Benoit Chabot,Lulzim Shkreta +1 more
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TLDR
This review highlights recent progress in understanding of how the altered splicing function of RNA-binding proteins contributes to myelodysplastic syndromes, cancer, and neuropathologies.Abstract:
Examples of associations between human disease and defects in pre–messenger RNA splicing/alternative splicing are accumulating. Although many alterations are caused by mutations in splicing signals or regulatory sequence elements, recent studies have noted the disruptive impact of mutated generic spliceosome components and splicing regulatory proteins. This review highlights recent progress in our understanding of how the altered splicing function of RNA-binding proteins contributes to myelodysplastic syndromes, cancer, and neuropathologies.read more
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Circular RNAs in cancer: opportunities and challenges in the field.
TL;DR: The current knowledge on circRNAs is reviewed in relation to their implications in tumorigenesis as well as their potential as diagnostic and prognostic biomarkers and as possible therapeutic targets in future personalized medicine.
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Alternative splicing as a regulator of development and tissue identity
TL;DR: This work has shown that coordinated splicing networks regulate tissue and organ development, and that alternative splicing has important physiological functions in different developmental processes in humans.
Journal ArticleDOI
RNA-Binding Proteins in Cancer: Old Players and New Actors
TL;DR: Evidence that RBPs modulate multiple cancer traits, emphasize their functional diversity, and assess future trends in the study of RBPs in cancer are reviewed.
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The Functional Impact of Alternative Splicing in Cancer
TL;DR: It is proposed that a subset of the alternative splicing changes observed in tumors may represent independent oncogenic processes that could be relevant to explain the functional transformations in cancer, and some of them could potentially be consideredAlternative splicing drivers (AS drivers).
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Splicing mutations in human genetic disorders: examples, detection, and confirmation.
Abramowicz Anna,Gos Monika +1 more
TL;DR: This article summarizes the current knowledge about the “splicing mutations” and methods that help to identify such changes in clinical diagnosis and recommends bioinformatic algorithms as a tool to assess the possible effect of the identified changes.
References
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Mutational landscape and significance across 12 major cancer types
Cyriac Kandoth,Michael D. McLellan,Fabio Vandin,Kai Ye,Beifang Niu,Charles Lu,Mingchao Xie,Qunyuan Zhang,Joshua F. McMichael,Matthew A. Wyczalkowski,Mark D.M. Leiserson,Christopher A. Miller,John S. Welch,Matthew J. Walter,Michael C. Wendl,Timothy J. Ley,Richard K. Wilson,Benjamin J. Raphael,Li Ding +18 more
TL;DR: Data and analytical results for point mutations and small insertions/deletions from 3,281 tumours across 12 tumour types are presented as part of the TCGA Pan-Cancer effort, and clinical association analysis identifies genes having a significant effect on survival.
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Epithelial-Mesenchymal Transition: At the Crossroads of Development and Tumor Metastasis
Jing Yang,Robert A. Weinberg +1 more
TL;DR: This review summarizes and compares major signaling pathways that regulate the epithelial-mesenchymal transitions during both development and tumor metastasis and examines their role in carcinoma invasion and metastasis.
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The M2 splice isoform of pyruvate kinase is important for cancer metabolism and tumour growth
Heather R. Christofk,Matthew G. Vander Heiden,Marian H. Harris,Arvind Ramanathan,Robert E. Gerszten,Robert E. Gerszten,Ru Wei,Mark D. Fleming,Stuart L. Schreiber,Stuart L. Schreiber,Lewis C. Cantley,Lewis C. Cantley +11 more
TL;DR: It is demonstrated that M2 expression is necessary for aerobic glycolysis and that this metabolic phenotype provides a selective growth advantage for tumour cells in vivo.
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The Spliceosome: Design Principles of a Dynamic RNP Machine
TL;DR: The spliceosome exhibits exceptional compositional and structural dynamics that are exploited during substrate-dependent complex assembly, catalytic activation, and active site remodeling in the pre-mRNAs.
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The nuclear-retained noncoding RNA MALAT1 regulates alternative splicing by modulating SR splicing factor phosphorylation.
Vidisha Tripathi,Jonathan D. Ellis,Zhen Shen,David Y. Song,Qun Pan,Andrew T. Watt,Susan M. Freier,C. Frank Bennett,Alok Sharma,Paula A. Bubulya,Benjamin J. Blencowe,Supriya G. Prasanth,Kannanganattu V. Prasanth +12 more
TL;DR: Evidence is provided for a role for the long nuclear-retained regulatory RNA, MALAT1 in AS regulation and for the role for an nrRNA in the regulation of gene expression, which suggests that MALat1 regulates AS by modulating the levels of active SR proteins.