rna splicing factors


Summary: RNA-binding proteins that facilitate or inhibit RNA SPLICING.

Top Publications

  1. Damm F, Thol F, Kosmider O, Kade S, Löffeld P, Dreyfus F, et al. SF3B1 mutations in myelodysplastic syndromes: clinical associations and prognostic implications. Leukemia. 2012;26:1137-40 pubmed publisher
  2. Low K, Ansari M, Abou Jamra R, Clarke A, El Chehadeh S, Fitzpatrick D, et al. PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features. Eur J Hum Genet. 2017;25:552-559 pubmed publisher
  3. Zhou W, Ma N, Jiang H, Rong Y, Deng Y, Feng Y, et al. SF3B4 is decreased in pancreatic cancer and inhibits the growth and migration of cancer cells. Tumour Biol. 2017;39:1010428317695913 pubmed publisher
  4. Zhou H, Mangelsdorf M, Liu J, Zhu L, Wu J. RNA-binding proteins in neurological diseases. Sci China Life Sci. 2014;57:432-44 pubmed
    ..Here, we mainly focus on selected RNA-binding proteins including Nova-1/Nova-2, HuR/HuB/HuC/HuD, TDP-43, Fus, Rbfox1/Rbfox2, QKI and FMRP, discussing their function and roles in human diseases. ..
  5. McIntosh L, Marion M, Sudman M, Comeau M, Becker M, Bohnsack J, et al. Genome-Wide Association Meta-Analysis Reveals Novel Juvenile Idiopathic Arthritis Susceptibility Loci. Arthritis Rheumatol. 2017;69:2222-2232 pubmed publisher
    ..Thus, they likely represent regions that contribute to the pathology of oligoarticular JIA and RF-negative polyarticular JIA. ..
  6. Elizalde M, Urtasun R, Azkona M, Latasa M, Goñi S, Garcia Irigoyen O, et al. Splicing regulator SLU7 is essential for maintaining liver homeostasis. J Clin Invest. 2014;124:2909-20 pubmed publisher
    ..Together, out data indicate that SLU7 is central regulator of hepatocyte identity and quiescence. ..
  7. Christenson E, Dalton W, Chu D, Waters I, Cravero K, Zabransky D, et al. Single-Nucleotide Polymorphism Leading to False Allelic Fraction by Droplet Digital PCR. Clin Chem. 2017;63:1370-1376 pubmed publisher
  8. Huang R, Xue R, Qu D, Yin J, Shen X. Prp19 Arrests Cell Cycle via Cdc5L in Hepatocellular Carcinoma Cells. Int J Mol Sci. 2017;18: pubmed publisher
    ..This work implied that Prp19 participated in mitotic progression and thus could be a promising therapeutic target of HCC. ..
  9. Onaindia A, Gómez S, Piris Villaespesa M, Martínez Laperche C, Cereceda L, Montes Moreno S, et al. Chronic lymphocytic leukemia cells in lymph nodes show frequent NOTCH1 activation. Haematologica. 2015;100:e200-3 pubmed publisher

More Information


  1. Ying Y, Wang X, Vuong C, Lin C, Damianov A, Black D. Splicing Activation by Rbfox Requires Self-Aggregation through Its Tyrosine-Rich Domain. Cell. 2017;170:312-323.e10 pubmed publisher
    ..Rather than simple recruitment of individual regulators to a target exon, alternative splicing choices also depend on the higher-order assembly of these regulators within the nucleus. ..
  2. Wang C, Gupta P, Fressigne L, Bossé G, Wang X, Simard M, et al. TEG-1 CD2BP2 controls miRNA levels by regulating miRISC stability in C. elegans and human cells. Nucleic Acids Res. 2017;45:1488-1500 pubmed publisher
    ..Together, these data demonstrate that TEG-1 CD2BP2 stabilizes miRISC and mature miRNAs, maintaining them at levels necessary to properly regulate target gene expression. ..
  3. Zhu F, Chen M, Ye N, Shi L, Ma K, Yang J, et al. Proteogenomic analysis reveals alternative splicing and translation as part of the abscisic acid response in Arabidopsis seedlings. Plant J. 2017;91:518-533 pubmed publisher
    ..The results enhance our understanding of AS and alternative translation mechanisms under normal conditions, and in response to ABA treatment...
  4. Liu S, Li X, Zhang L, Jiang J, Hill R, Cui Y, et al. Structure of the yeast spliceosomal postcatalytic P complex. Science. 2017;358:1278-1283 pubmed publisher
    ..Prp22 binds nucleotides 15 to 21 in the 3' exon, enabling it to pull the intron-exon or ligated exons in a 3' to 5' direction to achieve 3'-ss proofreading or exon release, respectively. ..
  5. Legerski R. The Pso4 complex splices into the DNA damage response. Cell Cycle. 2009;8:3448-9 pubmed
  6. Zhang Y, Li Y, Liang X, Zhu Z, Sun H, He H, et al. Crystal structure of the WD40 domain of human PRPF19. Biochem Biophys Res Commun. 2017;493:1250-1253 pubmed publisher
    ..However, there are also conserved clusters of residues at the bottom surface of the fourth and the fifth WD40 repeats, which provides the important implication for the conserved Prp19 proteins in both human and yeast...
  7. Armero V, Tremblay M, Allaire A, Boudreault S, Martenon Brodeur C, Duval C, et al. Transcriptome-wide analysis of alternative RNA splicing events in Epstein-Barr virus-associated gastric carcinomas. PLoS ONE. 2017;12:e0176880 pubmed publisher
    ..These findings provide insights into the molecular differences between various types of gastric cancer and suggest a role for the EBNA1 protein in the dysregulation of cellular AS. ..
  8. Kim Guisbert K, Guisbert E. SF3B1 is a stress-sensitive splicing factor that regulates both HSF1 concentration and activity. PLoS ONE. 2017;12:e0176382 pubmed publisher
    ..Finally, we show that regulation of alternative splicing by SF3B1 is sensitive to temperature, providing a new mechanism by which temperature stress can remodel the transcriptome. ..
  9. Mansouri L, Cahill N, Gunnarsson R, Smedby K, Tjönnfjord E, Hjalgrim H, et al. NOTCH1 and SF3B1 mutations can be added to the hierarchical prognostic classification in chronic lymphocytic leukemia. Leukemia. 2013;27:512-4 pubmed publisher
  10. Hayward N, Wilmott J, Waddell N, Johansson P, Field M, Nones K, et al. Whole-genome landscapes of major melanoma subtypes. Nature. 2017;545:175-180 pubmed publisher
    ..The whole-genome mutation landscape of melanoma reveals diverse carcinogenic processes across its subtypes, some unrelated to sun exposure, and extends potential involvement of the non-coding genome in its pathogenesis. ..
  11. Rajman M, Metge F, Fiore R, Khudayberdiev S, Aksoy Aksel A, Bicker S, et al. A microRNA-129-5p/Rbfox crosstalk coordinates homeostatic downscaling of excitatory synapses. EMBO J. 2017;36:1770-1787 pubmed publisher
    ..We therefore identified a novel activity-dependent miRNA/RBP crosstalk during synaptic scaling, with potential implications for neural network homeostasis and epileptogenesis. ..
  12. Zhang Z, Xing Y. CLIP-seq analysis of multi-mapped reads discovers novel functional RNA regulatory sites in the human transcriptome. Nucleic Acids Res. 2017;45:9260-9271 pubmed publisher
  13. Robertson A, Shih J, Yau C, Gibb E, Oba J, Mungall K, et al. Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma. Cancer Cell. 2017;32:204-220.e15 pubmed publisher
    ..Within D3-UM, EIF1AX- and SRSF2/SF3B1-mutant tumors have distinct somatic copy number alterations and DNA methylation profiles, providing insight into the biology of these low- versus intermediate-risk clinical mutation subtypes. ..
  14. Jin S, Su H, Tran N, Song J, Lu S, Li Y, et al. Splicing factor SF3B1K700E mutant dysregulates erythroid differentiation via aberrant alternative splicing of transcription factor TAL1. PLoS ONE. 2017;12:e0175523 pubmed publisher
    ..Therefore, mutations of SF3B1 may block erythropoiesis via dysregulation of alternative RNA splicing of transcription factor TAL1, and targeting PRMT1 may alleviate the anemic symptoms in MDS patients. ..
  15. Li R, Harvey A, Hodgetts S, Fox A. Functional dissection of NEAT1 using genome editing reveals substantial localization of the NEAT1_1 isoform outside paraspeckles. RNA. 2017;23:872-881 pubmed publisher
    ..This study highlights the complexity of lncRNA and showcases how genome editing tools are useful in dissecting the structural and functional roles of overlapping transcripts. ..
  16. Mortera Blanco T, Dimitriou M, Woll P, Karimi M, Elvarsdottir E, Conte S, et al. SF3B1-initiating mutations in MDS-RSs target lymphomyeloid hematopoietic stem cells. Blood. 2017;130:881-890 pubmed publisher
    ..Our findings provide evidence of a multipotent lymphomyeloid HSC origin of SF3B1 mutations in MDS-RS patients and provide a novel in vivo platform for mechanistically and therapeutically exploring SF3B1 mutated MDS-RS. ..
  17. Dubois J, Yates M, Gaudreau Lapierre A, Clement G, Cappadocia L, Gaudreau L, et al. A phosphorylation-and-ubiquitylation circuitry driving ATR activation and homologous recombination. Nucleic Acids Res. 2017;45:8859-8872 pubmed publisher
  18. Coutinho E, Okamoto S, Ishikawa A, Yokota S, Wada N, Hirabayashi T, et al. Activation of SF1 Neurons in the Ventromedial Hypothalamus by DREADD Technology Increases Insulin Sensitivity in Peripheral Tissues. Diabetes. 2017;66:2372-2386 pubmed publisher
    ..DREADD technology is thus an important tool for studies of the role of the brain in the regulation of insulin sensitivity in peripheral tissues. ..
  19. Quesada V, Ramsay A, Lopez Otin C. Chronic lymphocytic leukemia with SF3B1 mutation. N Engl J Med. 2012;366:2530 pubmed publisher
  20. Shukla G, Singh J. Mutations of RNA splicing factors in hematological malignancies. Cancer Lett. 2017;409:1-8 pubmed publisher
    ..This short review is focusing on the function of the splice factors involved in the formation of splicing complexes and potential mechanisms which affect usage of the authentic splice site recognition. ..
  21. Feng J, Wilkinson M, Liu X, Purushothaman I, Ferguson D, Vialou V, et al. Chronic cocaine-regulated epigenomic changes in mouse nucleus accumbens. Genome Biol. 2014;15:R65 pubmed publisher
    ..These results serve as an important resource for the field and provide a template for the analysis of other systems to reveal new transcriptional and epigenetic mechanisms of neuronal regulation. ..
  22. Peixoto L, Wimmer M, Poplawski S, Tudor J, Kenworthy C, Liu S, et al. Memory acquisition and retrieval impact different epigenetic processes that regulate gene expression. BMC Genomics. 2015;16 Suppl 5:S5 pubmed publisher
  23. Krepl M, Blatter M, Cléry A, Damberger F, Allain F, Sponer J. Structural study of the Fox-1 RRM protein hydration reveals a role for key water molecules in RRM-RNA recognition. Nucleic Acids Res. 2017;45:8046-8063 pubmed publisher
    ..In conclusion, MD is an effective tool for predicting and interpreting the hydration patterns of protein/RNA complexes. Hydration is not easily detectable in NMR experiments but can affect stability of protein/RNA complexes. ..
  24. Zhang X, Yan C, Hang J, Finci L, Lei J, Shi Y. An Atomic Structure of the Human Spliceosome. Cell. 2017;169:918-929.e14 pubmed publisher
    ..These structural features reveal important mechanistic insights into exon ligation. ..
  25. Ulrich A, Wahl M. Human MFAP1 is a cryptic ortholog of the Saccharomyces cerevisiae Spp381 splicing factor. BMC Evol Biol. 2017;17:91 pubmed publisher
  26. Aviner R, Hofmann S, Elman T, Shenoy A, Geiger T, Elkon R, et al. Proteomic analysis of polyribosomes identifies splicing factors as potential regulators of translation during mitosis. Nucleic Acids Res. 2017;45:5945-5957 pubmed publisher
  27. Brillen A, Walotka L, Hillebrand F, Müller L, Widera M, Theiss S, et al. Analysis of Competing HIV-1 Splice Donor Sites Uncovers a Tight Cluster of Splicing Regulatory Elements within Exon 2/2b. J Virol. 2017;91: pubmed publisher
    ..This regulation is maintained by several serine/arginine-rich splicing factors (SRSF) and hnRNPs binding to those elements. Targeting this cluster of SREs with LNAs may lead to the development of novel effective therapeutic strategies. ..