ライフサイエンスコーパス: splicing

1 trons are removed through the process of RNA splicing.

2 pendent on sequence-specific RNA binding and splicing.

3 h motifs partially alleviates non-productive splicing.

4 idespread loss of function on expression and splicing.

5 dopsis NTC and its loss leads to inefficient splicing.

6 can regulate gene expression and transcript splicing.

7 lowing small molecule control of alternative splicing.

8 n function due to their direct impact on RNA splicing.

9 cal form of alternative splicing called back-splicing.

10 ssue-specific gene expression and transcript splicing.

11 from this individual show altered UPF3B RNA splicing.

12 pated in rapalog-induced deregulation of RNA splicing.

13 ns some of the highest levels of alternative splicing.

14 aintain function through their impact on RNA splicing.

15 ggregates, resulting in aberrant alternative splicing.

16 n pre-mRNA splicing and accurate alternative splicing.

17 contribute to the efficiency of alternative splicing.

18 eted to mitochondria independently of exon 1 splicing.

19 osome before the first catalytic step of RNA splicing.

20 th the ability to activate pre-messenger RNA splicing.

21 rent mechanism that does not require protein splicing.

22 s can retain function due to their impact on splicing.

23 nges to transcript abundance and alternative splicing.

24 robust and reliable splicing outcomes in RON splicing.

25 osine, the nucleophile for the first step of splicing(1).

26 This review focuses on alternative splicing, 3' end processing, miRNA-mediated mRNA repress

27 Through alternative back-splicing (ABS), a single gene produces multiple circRNAs

28 Here, we assess the splicing activity of 34 inteins (both uncharacterized an

29 Tumor-specific splicing alterations are created by mutations that disru

30 We find that some mutation-induced splicing alterations are located in genes important in t

31 They cause genome-wide splicing alterations that affect important regulators of

32 the surprising observation that alternative splicing among single cells is highly variable and follo

33 RNA-protein interactions were observed upon splicing among the RNP complexes.

34 sis of Transcript Splicing) for differential splicing analysis in scRNA-seq, which achieves high sens

35 ycle and describe its dependence on pre-mRNA splicing and accurate alternative splicing.

36 ded longevity, and exposure to stress led to splicing and activation of xbp-1 in these neurons.

37 ent understanding of the connections between splicing and cancer, with a focus on the most recent fin

38 o cocaine and instead results in alternative splicing and chromatin accessibility events, involving g

39 RBM10 also regulates alternative splicing and controls cancer cell proliferation.

40 Mirtrons are non-canonical miRNAs arising by splicing and debranching from short introns.

41 Therefore, neural-specific exon 5 splicing and depletion of BAK1 proteins uniquely repress

42 We conclude that changes in alternative splicing and gene expression are observable decades prio

43 nvertebrate PVs, using extensive alternative splicing and incorporating transcription elements charac

44 d reduced synaptic signaling and between RNA splicing and increased oligodendrocyte development and m

45 ight of the mechanistic relationship between splicing and NMD, we sought evidence for a specific role

46 A lies at the interface of transcription and splicing and promotes aggressive TNBC phenotypes.

47 DAF-2B arises via alternative splicing and retains the extracellular ligand binding do

48 ed light on the relevance of p73 alternative splicing and show that the full-length C terminus of p73

49 RNA splicing and spliceosome assembly in eukaryotes occur ma

50 Aberrant splicing and transcript destabilization were associated

51 nce increases for a number of transcription, splicing, and 3' processing factors.

52 iations between gene expression, alternative splicing, and DNA methylation that may shape transcripto

53 oftware designed for large-scale analyses of splicing, and identified 13,149 high-confidence cassette

54 henotype are observed, including alternative splicing, and mRNA expression levels of proto-oncogenes

55 ciated with cis-acting elements, alternative splicing, and RNA-binding factors.

56 lyzed their duplication history, alternative splicing, and subcellular targeting patterns to identify

57 ion of genes at three levels: transcription, splicing, and translation in response to ionizing radiat

58 n in mRNA, known to regulate mRNA stability, splicing, and translation, but it is unclear whether it

59 The mechanisms governing alternative splicing are known for relatively few genes and typicall

60 duals-especially with regards to alternative splicing-are lacking for most primary cell types, includ

61 Together, these findings identify macroH2A1 splicing as a modulator of genome maintenance that ensur

62 Alternative splicing (AS) and alternative polyadenylation (APA) gene

63 he role of dysregulation of mRNA alternative splicing (AS) in the development and progression of soli

64 Notably, BdFTL1 is subject to alternative splicing (AS), and its transcriptional level and AS are

65 posttranscriptional mechanisms, alternative splicing (AS; especially intron retention) and alternati

66 pha intron 6/exon 7 boundary, in an in vitro splicing assay.

67 tions, genomic analyses, and high throughput splicing assays, we confirm the key predictions of this

68 informatics workflow to discover alternative splicing biomarkers from LC-MS/MS using RNA-Seq.

69 g RNA-seq data to discover novel alternative splicing biomarkers from the breast cancer proteome.

70 c RNA-target sequences and modulate pre-mRNA splicing by sterically blocking the binding of splicing

71 oduced by a noncanonical form of alternative splicing called back-splicing.

72 ork shows that regulation of tissue-specific splicing can influence FXR1 condensates in muscle develo

73 igger an alteration of exon usage during RNA splicing, causing the enamel malformations.

74 The absolute magnitude of splicing changes is similar in pre-symptomatic and late

75 fect specific hotspot residues, resulting in splicing changes that promote disease pathophysiology.

76 scripts thereby leading to a program of host splicing changes that promote IAV replication.

77 er one or the other isoform for a particular splicing choice, with few cells producing both isoforms.

78 chromatin modification, DNA methylation, RNA splicing, cohesin complex, transcription factors, cell s

79 At its catalytic core resides the activated splicing complex Bact consisting of the three small nucl

80 ting that perturbed autoregulation of rpl10a splicing contributes to failing T cell development in up

81 a reveal an unusual mode by which neuroligin splicing controls synapse development through protein-gl

82 ptides, and created a customized alternative splicing database for MS searching.

83 As a complement to synthetic alternative splicing database technique for alternative splicing ide

84 To verify that the point mutation caused a splicing defect, we tested wild-type and mutant mRNA sub

85 g all BRCA2 VUS, those causing partial/leaky splicing defects are the most challenging to classify be

86 er, our results reveal previously undetected splicing defects in high insoluble hnRNPH-associated C9A

87 This correlated with improvements in several splicing defects in skeletal and cardiac muscles.

88 tant mice, indicating that pre-translational splicing defects may be a critical component of the dise

89 A foci and correlated with a plethora of RNA splicing defects.

90 Inhibition of Xbp1 splicing did not decrease induction of ATF6alpha targets

91 Although many documented examples of splicing differences between broad tissue types exist, t

92 ncluding kinase signaling, cytoskeleton, RNA splicing, DNA repair, and nuclear lamina.

93 We demonstrate that inaccurate TE splicing does not trigger small RNA production, and the

94 hough ATF6alpha knockdown did not alter Xbp1 splicing dynamics or intensity, it did reduce induction

95 We find that the severity of splicing dysregulation correlates with disease progressi

96 tures that correlate with co-transcriptional splicing efficiency, and introns with alternative 5' or

97 derstand the impact of specific mutations on splicing efficiency.

98 cts viral late transcripts by reducing their splicing efficiency.

99 inferences of high confidence for effects on splicing even of mutations in genes not expressed in acc

100 confidence transcripts, perform differential splicing event analysis, and differential isoform analys

101 s reported to be the most common alternative splicing event due to loss of functional domains/sites o

102 omic region, corresponding to an alternative splicing event, VALERIE generates an ensemble of informa

103 xon skipping, a readily measured alternative splicing event.

104 rmine the functional units that control this splicing event.

105 nd that a significant number of AR-regulated splicing events are associated with tumor progression.

106 t approximately a quarter of the IAV-induced splicing events are regulated by hnRNP K, a host protein

107 is altered in tumours, leading to oncogenic splicing events associated with tumour progression and a

108 Alternative splicing events differentially regulated between tissues

109 uence complementarity, and identified 17 mis-splicing events for one of the ASOs tested.

110 NA sequencing data identifies non-productive splicing events in 7,757 protein-coding human genes, of

111 asets show a preponderance of 3' alternative splicing events in fam50a KO, suggesting a role in the s

112 Alkbh5 has effects on m(6)A density and splicing events in tumors during ICB.

113 volve the distinct alteration of alternative splicing events of specific transcription factors contro

114 anscript analysis links multiple alternative splicing events together and allows for better estimates

115 datasets, SCATS identified more differential splicing events with subtle difference across cell types

116 rofiled gene expression changes, alternative splicing events, and DNA methylation patterns during nod

117 matically targeting thousands of alternative splicing events, CHyMErA identifies exons underlying hum

118 oding RNAs generated from non-canonical back-splicing events, have emerged to play key roles in many

119 nstream) of the introns regulate alternative splicing events, likely through modulating accessibility

120 es can be used to reduce unwanted off-target splicing events.

121 afCutter in the context of detecting outlier splicing events.

122 yses for all five major types of alternative splicing events: skipped exon, mutually exclusive exons,

123 e site dynamics induced by the first step of splicing facilitate the progression to the second step.

124 dentify the same hotspot somatic mutation in splicing factor 3 subunit B1 (SF3B1(R625H)) in 19.8% of

125 s currently the most potent modulator of the splicing factor 3b subunit 1 and used by dozens of resea

126 ed that mice lacking the epithelial-specific splicing factor Esrp1 have fully penetrant bilateral cle

127 omain containing octamer-binding protein and splicing factor proline/glutamine-rich.

128 s driving Alzheimer's disease, including the splicing factor PTBP1.

129 genetic screens in C. elegans, we identified splicing factor RNP-6/PUF60 whose activity suppresses im

130 ls splicing of ABI3 and acts upstream of the splicing factor SUPPRESSOR OF ABI3-ABI5.

131 Here, we identified an additional pre-mRNA splicing factor, WBP11, as a novel protein required for

132 a U1 small nuclear ribonucleoprotein (snRNP) splicing factor.

133 report the engineering of CRISPR Artificial Splicing Factors (CASFx) based on RNA-targeting CRISPR-C

134 f the test substrate promoted recruitment of splicing factors and consequent pre-mRNA structural remo

135 here remains much to be understood about the splicing factors and the cis sequence elements controlli

136 ers of TNPO3, including SR domain-containing splicing factors and tRNAs that reenter the nucleus.

137 ining non-coding mutations in well-known RNA splicing factors exhibit similar gene expression signatu

138 ide insight into how the loss of a subset of splicing factors leads to a failure of centriole duplica

139 ide screen revealed that depletion of 14 RNA splicing factors leads to a specific defect in centriole

140 Here, we identified 1723 AS events and 41 splicing factors regulated in a breast cancer cell model

141 Genes encoding the RNA splicing factors SF3B1, SRSF2, and U2AF1 are subject to

142 Several additional splicing factors that are required for centriole duplica

143 licing by sterically blocking the binding of splicing factors to the pre-mRNA, are a promising therap

144 metabolism (RNA helicases, PRP19, p54(nrb), splicing factors).

145 erved Pir2(ARS2) protein in association with splicing factors, which recruit RNA processing and chrom

146 ng the RNA-binding preferences of individual splicing factors.

147 atively few genes and typically focus on RNA splicing factors.

148 , likely through modulating accessibility of splicing factors.

149 difications and changes in the expression of splicing factors.

150 se SCATS (Single-Cell Analysis of Transcript Splicing) for differential splicing analysis in scRNA-se

151 Furthermore, G335A increases TDP-43 splicing function in a minigene assay.

152 producing multiple protein isoforms and mis-splicing has been implicated in disease.

153 Alternative splicing has been shown to causally contribute to the ep

154 While splicing has been shown to enhance nuclear export, it ha

155 However, co-transcriptional splicing has not yet been explored in plants.

156 ider range of problems including analysis of splicing heterogeneity among individual cells.

157 splicing database technique for alternative splicing identification, this method combines the advant

158 uses and functional relevance of alternative splicing in cancer.

159 We analyze alternative splicing in human and mouse single-cell RNA-seq datasets

160 and show that it effectively blocks aberrant splicing in primary bronchial epithelial (hBE) cells fro

161 areness of the potential role of alternative splicing in the etiology of cancer.

162 ic day 13-13.5 (E13-13.5) corrected pre-mRNA splicing in the juvenile Usher syndrome type 1c (Ush1c)

163 educed expression of IRE1alpha and Xbp1 mRNA splicing in TLR2 knockout mouse retina.

164 wild type levels had no effect on incomplete splicing in zQ175 knockin mice.

165 is, including an overlap between protein and splicing information in ESEs.

166 Pre-mRNA splicing is a fundamental process in mammalian gene expr

167 Genetic variation of alternative splicing is a prevalent source of transcriptomic and pro

168 Splicing is a vital cellular process that modulates impo

169 aize CFM1 ortholog is bound to introns whose splicing is disrupted in the cfm1 mutant.

170 Contrary to what was accepted previously, splicing is now thought to predominantly take place duri

171 reas autocatalysis is abolished in the cold, splicing is partially restored by the intron-encoded pro

172 RNA splicing is primarily altered by non-coding mutations in

173 How this splicing is regulated is unknown.

174 sting that ZMAT3-mediated regulation of CD44 splicing is vital for p53 function.

175 MBNL1, a protein involved in alternative splicing, is consistently overexpressed in MLL-rearrange

176 tentially highly sample-specific alternative splicing isoform biomarkers at early-stage of cancer.

177 mediated by nonsense-mediated decay (NMD) of splicing isoforms, with autism phenotypes usually trigge

178 rom rRNA-depleted RNA-seq data based on back-splicing junction-spanning reads, computational tools to

179 We identified 171 genes and eight splicing junctions located within four genes (SNX19, ARL

180 we report that the previously characterized splicing kinase SRPK1 initiates this life-beginning even

181 y, while reduced levels of transcription and splicing lead to a paucity of excised intron in the cold

182 on networks to describe the formation of RNA splicing machinery complexes and splicing processes with

183 ltogether, our results demonstrate a drastic splicing machinery-associated molecular dysregulation in

184 on of immunity by specific components of the splicing machinery.

185 ribed system exploits conserved sex-specific splicing mechanisms and reagents, it has the potential t

186 ns, consistent with the concept that altered splicing might be a common mechanism by which mutations

187 LoF variants susceptible to induce in-frame splicing modifications.

188 et degradation by RNase H-mediated cleavage, splicing modulation, non-coding RNA inhibition, gene act

189 cause the majority of genes undergo pre-mRNA splicing, most cellular processes depend on proper splic

190 otein factors that predominantly bind exonic splicing motifs.

191 One common CFTR splicing mutation is CFTR c.3718-2477C>T (3849+10 kb C>T

192 comprehensive quantification of alternative splicing, no correspondingly high-throughput assay exist

193 icantly induced viral transcription, but not splicing nor supernatant HIV-1 RNA.

194 reveal that, in human and Drosophila cells, splicing occurs after RNA polymerase II transcribes seve

195 ular mechanisms of cell-specific alternative splicing of a functionally validated exon in normal and

196 Intron splicing of a nascent mRNA transcript by spliceosome (SP

197 ses caused by the overexpression or aberrant splicing of a specific protein.

198 e-mutant analysis shows that DRT111 controls splicing of ABI3 and acts upstream of the splicing facto

199 5'UTR of Ndufb6 mRNA, thereby regulating the splicing of Apob mRNA and the translation of UQCRB and N

200 Little is known about how splicing of bacterial group II introns is influenced by

201 reover, AKAP8 expression and the alternative splicing of CLSTN1 predict breast cancer patient surviva

202 region at 5q22 regulates the expression and splicing of EPB41L4A transcripts.

203 at the SF3B1(R625H) mutation causes aberrant splicing of estrogen related receptor gamma (ESRRG), whi

204 We have previously shown that the incomplete splicing of exon 1 to exon 2 of the HTT gene results in

205 , we found that depending on the alternative splicing of exon 1, type I splice variants (MOCS1A) eith

206 ther, we find that Mdm30 does not facilitate splicing of export factors.

207 Here, we show that tissue-specific splicing of fxr1 is required for Xenopus development and

208 hat SRSF6 is not required for the incomplete splicing of HTT in Huntington's disease.

209 The incomplete splicing of Htt was recapitulated in the MEFs and we dem

210 tastatic growth by repressing MBNL1-directed splicing of ITGA6 Our findings also indicate that BCL11A

211 Alternative splicing of MOCS1 within exons 1 and 9 produces four dif

212 nation for this paradox involves alternative splicing of mRNA, which allows exons of a gene to be exp

213 An emerging role of PARPs in alternative splicing of mRNAs, as well as direct ADPRylation of mRNA

214 We conclude that alternative splicing of MyD88 may provide a sensitive mechanism that

215 correlated with DNA binding of NF-Y but with splicing of NF-YA.

216 rposed to create factors that facilitate the splicing of organellar introns.

217 Premature stop codons introduced by mis-splicing of PgABCA2 pre-mRNA were prevalent in field-sel

218 NCODE and GTEx data sets to study the unique splicing of photoreceptors.

219 r metabolism by ensuring correct alternative splicing of pre-mRNAs of critical glycolytic genes such

220 Alternative splicing of Shtn1 at the C terminus and downstream of th

221 et profiling, and to rescue disease-relevant splicing of tau pre-mRNA in a variety of cellular system

222 apoptosis competence through neural-specific splicing of the Bak1 microexon is essential for neuronal

223 OGA), we first show that O-GlcNAc regulates splicing of the highly conserved detained introns in OGT

224 RNP K, a host protein required for efficient splicing of the IAV M transcript in nuclear speckles.

225 ulating the LPS-induced alternative pre-mRNA splicing of the MyD88 transcript in murine macrophages.

226 n sensory neurons, cell-specific alternative splicing of the presynaptic Ca(V) channel Cacna1b gene m

227 nd to be spliced concurrently, implying that splicing of these introns occurs cooperatively.

228 ion, we show that pUL47 is important for the splicing of UL44 transcripts encoding glycoprotein gC, a

229 ent mutant DeltaUL54, which also affects the splicing of UL44 transcripts.

230 the IRE1alpha nuclease, which initiates mRNA splicing of X-box binding protein-1 (XBP1).

231 lve BARP's N-terminal region and IRE1alpha's splicing of XBP1 mRNA.

232 n many essential cellular processes, such as splicing or ribosome biogenesis, where they remodel larg

233 We found that splicing order does not strictly follow the order of tra

234 exon definition promotes robust and reliable splicing outcomes in RON splicing.

235 speckles) and of organelle heterogeneity on splicing particle biogenesis in mammalian cells.

236 GlcNAc levels are low, yet other alternative splicing pathways change minimally.

237 ases, specific inhibition of the IAV-induced splicing pattern also attenuates viral infection.

238 terpretation of BRCA2 variants affecting the splicing pattern of other essential exons.

239 eciprocal regulation serves to fine tune the splicing patterns of many downstream target genes.

240 ntrolling tissue and neuron subtype-specific splicing patterns.

241 n mammalian gene expression, and alternative splicing plays an extensive role in generating protein d

242 that the cellular machinery controlling the splicing process (spliceosome) is altered in tumours, le

243 tion of RNA splicing machinery complexes and splicing processes within nuclear speckles (specific typ

244 The FXR1 gene undergoes alternative splicing, producing multiple protein isoforms and mis-sp

245 se cell-to-cell heterogeneity of alternative splicing profiles across single cells and performs stati

246 s more suitable for representing alternative splicing profiles for a large number of samples typicall

247 py, namely the disruption of cancer-specific splicing programs through the targeting of selectively e

248 ondensates in muscle development and how mis-splicing promotes disease.

249 We demonstrate that Prp5p's splicing proofreading is modulated by Spt8p and Spt3p.

250 Ls are largely independent of expression and splicing QTLs and are enriched with binding sites of RNA

251 pression quantitative trait loci (eQTLs) and splicing quantitative trait loci (sQTLs) in 48 tissues.

252 -regulatory elements within genes and impair splicing recognition or by altering the RNA-binding pref

253 Alternative splicing regulates ECR conformation and receptor signali

254 How alternative-splicing regulates TEN-LPHN interaction remains unclear.

255 We discuss different levels of pre-mRNA splicing regulation such as post-translational modificat

256 Interestingly, alternative splicing regulation was also dampened.

257 ble model that mimics the physical layout of splicing regulation where the chromatin context progress

258 rect involvement of NF-kappaB in alternative splicing regulation, which significantly revisits our kn

259 s in genes enriched for protein trafficking, splicing, regulation of apoptosis, and prevention of amy

260 ppressing the expression of muscleblind-like splicing regulator 1 (MBNL1), a splicing regulator that

261 leblind-like splicing regulator 1 (MBNL1), a splicing regulator that suppresses metastasis.

262 he C9 repeat is known to sequester hnRNPH, a splicing regulator, into insoluble aggregates, resulting

263 , we discovered that the epithelial-specific splicing regulators (ESRP1 and ESRP2), flank many AR-reg

264 hat are known for their role as noncanonical splicing regulators were greatly increased, most notably

265 including the p53 inhibitors MDM4 and MDM2, splicing regulators, and components of varied cellular p

266 tion of A-Kinase Anchor Protein (AKAP8) as a splicing regulatory factor that impedes EMT and breast c

267 ations are created by mutations that disrupt splicing-regulatory elements within genes and impair spl

268 lation comparable to GCAUG in a trichromatic splicing reporter assay.

269 A daf-2b splicing reporter revealed active regulation of this tra

270 tility of nanopore sequencing for cancer and splicing research.

271 Group II introns are self-splicing ribozymes and mobile genetic elements.

272 Group II introns are ubiquitous self-splicing ribozymes and retrotransposable elements evolut

273 velopmental divergence including alternative splicing, RNA editing, nuclear pore composition, RNA-bin

274 he mRNA recognition domains of the U1 and U2 splicing RNAs and acts to suppress global mRNA splicing

275 including highly resolved positioning around splicing signals and mRNA untranslated regions that asso

276 ive GAA motif was identified to be an exonic splicing silencer that controls red light-responsive IR.

277 Splicing speckles are observed nearby within the lining

278 ss of ZMAT3 with respect to CD44 alternative splicing, suggesting that ZMAT3-mediated regulation of C

279 key regulator of liver-specific alternative splicing, supporting this finding with subsequent analys

280 e more tolerant to CWC15-mediated defects in splicing than either embryo or female gametophyte.

281 In this process known as protein splicing, the intein itself is not present in the final

282 but instead associate with the introns whose splicing they promote.

283 of post-transcriptional gene expression and splicing through direct protein-RNA interactions.

284 h creates a new 5' splice site, resulting in splicing to a cryptic exon with a premature termination

285 eceptor gene undergoes extensive alternative splicing to generate an array of splice variants.

286 trate that O-GlcNAc controls detained intron splicing to tune system-wide gene expression, providing

287 geting of natural non-productive alternative splicing to upregulate expression from wild-type or hypo

288 obases of pre-mRNA, suggesting that metazoan splicing transpires distally from the transcription mach

289 to intragenic regions regulates alternative splicing upon NF-kappaB activation by the viral oncogene

290 licing RNAs and acts to suppress global mRNA splicing upon SARS-CoV-2 infection.

291 These variants include a recurrent splicing variant that was initially overlooked due to it

292 Here, we compared two splicing variants (V1, V2) of murine UHRF1 (mUHRF1) with

293 The subcellular fate of splicing variants AtUPS5L (long) and AtUPS5S (short) was

294 o determine the pathogenicity of BRCA2 leaky splicing variants, some of which may not increase cancer

295 ciated with thousands of gene expression and splicing variations, indicating that pMEIs could have a

296 on of proteins associated with messenger RNA splicing via the spliceosome.

297 fects of defined alleles on transcription or splicing when introduced in their endogenous genomic loc

298 ne of the key processes in eukaryotes is RNA splicing, which readies mRNA for translation.

299 al expression of isoforms due to alternative splicing, while the second major mechanism-RNA editing d

300 s, exposing the dynamics and patterns of RNA splicing without biases introduced by amplification.