ライフサイエンスコーパス: splice

1 e 5' or 3' splice sites are less efficiently spliced.

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

3 nges to transcript abundance and alternative splicing.

4 robust and reliable splicing outcomes in RON splicing.

5 trons are removed through the process of RNA splicing.

6 pendent on sequence-specific RNA binding and splicing.

7 h motifs partially alleviates non-productive splicing.

8 idespread loss of function on expression and splicing.

9 dopsis NTC and its loss leads to inefficient splicing.

10 can regulate gene expression and transcript splicing.

11 lowing small molecule control of alternative splicing.

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

13 cal form of alternative splicing called back-splicing.

14 n pre-mRNA splicing and accurate alternative splicing.

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

16 rent mechanism that does not require protein splicing.

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

18 )), or (3) introduction of the alternatively spliced 25-amino acid exon 9* mimicking a splice variant

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

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

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

22 e further interrogate how the differentially spliced alpha repeat of the PGANT9A and PGANT9B O-glycos

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

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

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

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

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

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

29 as then applied to quantify the stability of spliced and intron-retained transcripts on a genome-wide

30 One pre-mRNA that is alternatively spliced and linked to neurodegenerative diseases is tau

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

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

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

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

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

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

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

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

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

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

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

42 RNA splicing and spliceosome assembly in eukaryotes occur ma

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

59 t this hypothesis, we used the alternatively spliced BRCA2 exon 12 (E12) as a model system because it

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

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

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

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

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

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

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

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

68 eighboring introns in human cells tend to be spliced concurrently, implying that splicing of these in

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

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

71 n 3, suggestive of an incompletely penetrant splice defect.

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

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

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

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

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

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

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

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

80 A substitution in FTSJ3 and a splice donor insertion in GH1 are strongly associated wi

81 mily of 14 essential SFs, are differentially spliced during induced pluripotent stem cell (iPSC) diff

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

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

84 The large and alternatively-spliced ECRs of adhesion G protein-coupled receptors (aG

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

86 derstand the impact of specific mutations on splicing efficiency.

87 cts viral late transcripts by reducing their splicing efficiency.

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

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

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

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

92 xon skipping, a readily measured alternative splicing event.

93 rmine the functional units that control this splicing event.

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

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

96 Alternative splicing events differentially regulated between tissues

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

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

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

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

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

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

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

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

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

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

107 afCutter in the context of detecting outlier splicing events.

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

109 k architecture to predict the inclusion of a spliced exon based on adjacent epigenetic signals, and w

110 tagenesis data obtained for an alternatively spliced exon in the proto-oncogene RON and determine the

111 alter the inclusion levels of alternatively spliced exons, consistent with the concept that altered

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

133 difications and changes in the expression of splicing factors.

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

135 of mRNA expression in a manner dependent on Spliced Form of X-box Binding Protein 1 (XBP1s).

136 naling is the production of alternative mRNA splice forms in the Toll-like receptor (TLR) signaling p

137 Here, we show helminths synthesize two coq-2 splice forms, coq-2a and coq-2e, and the coq-2e-specific

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

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

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

141 t the cellular localization of alternatively spliced human MOCS1 proteins.

142 sely correlated with regions of high percent-spliced in of exons.

143 uses and functional relevance of alternative splicing in cancer.

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

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

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

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

148 erforms statistical tests to compare percent spliced-in (PSI) values across the user-defined groups o

149 gical and clinical consequences of noncoding splice-inducing mutations that were previously neglected

150 oxidase to cause phagosomal damage even when spliced into a heterologous receptor and expressed in he

151 itative trait were significantly more likely spliced into multiple transcripts while they expressed.

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

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

154 Splicing is a vital cellular process that modulates impo

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

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

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

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

159 rther analysis comprehensively characterized splice isoform switching during the transition between m

160 A transcripts, we provide support for 23,865 splice isoforms across 14,611 genes, without the need fo

161 nscripts (antisense transcripts, alternative splice isoforms, and regulatory intergenic transcripts).

162 ogy by upregulating shortened TDP43 (sTDP43) splice isoforms.

163 Asic1a and Asic2b were the dominant splice isoforms.

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

165 to be overexpressed, defined by an exon-exon splice junction between exons 8 and 10 (junc8.10) and th

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

167 We identified splice junctions that could be generated only from prima

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

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

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

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

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

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

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

175 Strikingly, almost all detained introns are spliced more efficiently when O-GlcNAc levels are low, y

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

177 otein factors that predominantly bind exonic splicing motifs.

178 nscripts, we found a global stabilization of spliced mRNAs upon T cell activation, although the stabi

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

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

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

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

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

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

185 5'UTR of Ndufb6 mRNA, thereby regulating the splicing of Apob mRNA and the translation of UQCRB and N

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

213 While the most of aberrant 3'-splice patterns were explained by SF3B1 mutations, we al

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

215 ntrolling tissue and neuron subtype-specific splicing patterns.

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

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

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

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

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

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

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

223 rs6128 is a platelet splice QTL that alters SELP exon 14 skipping and soluble

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

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

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

227 Alternative splicing regulates ECR conformation and receptor signali

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

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

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

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

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

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

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

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

236 tility of nanopore sequencing for cancer and splicing research.

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

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

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

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

241 Transfer of the 5' splice site (5'SS) from U1 to U6 snRNA triggers unwindin

242 roligin splice site B, little is known about splice site A.

243 , alternative 5' splice site, alternative 3' splice site and retained intron.

244 In contrast to the well-studied neuroligin splice site B, little is known about splice site A.

245 Preferential selection of the mutant splice site likely reflects its positioning adjacent to

246 tified a homozygous mutation at an essential splice site on USP18.

247 the conformational dynamics of U2AF2 and its splice site RNA complexes.

248 erts a GG to an AG, generates a consensus 3' splice site that shifts the reading frame, and creates a

249 Germline nonsense and canonical splice site variants identified in disease-causing genes

250 on, mutually exclusive exons, alternative 5' splice site, alternative 3' splice site and retained int

251 Patients with intronic, splice site, or nonsense DMD mutations, with available m

252 th de novo KCNN2 variants (one nonsense, one splice site, six missense variants and one in-frame dele

253 uces multiple circRNAs sharing the same back-splice site.

254 nic germline variants in SCAF4 including two splice-site and seven truncating variants, all residing

255 hole-exome sequencing confirmed a homozygous splice-site mutation in SMARCD2.

256 iency, and introns with alternative 5' or 3' splice sites are less efficiently spliced.

257 Recognition of highly degenerate mammalian splice sites by the core spliceosomal machinery is regul

258 notype due to leakiness (e.g. use of cryptic splice sites or downstream AUGs).

259 Cassette exons and alternative 3' splice sites were the most frequently found alternativel

260 orphisms (SNPs) within and outside essential splice sites, respectively, suggesting their regulation

261 a systematic analysis on the conservation of splice-sites as a measure of gene-structure based on mul

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

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

264 trated that transuterine microinjection of a splice-switching antisense oligonucleotide (ASO) into th

265 Splice-switching antisense oligonucleotides (ASOs), whic

266 Here we report the development of a splice-switching oligonucleotide, named SSO Ex5, that lo

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

268 is one ER stress sensor that is activated to splice the bZIP60 mRNA that produces a truncated transcr

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

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

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

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

273 were the most frequently found alternatively spliced transcripts for REA and IF content.

274 A total of 166 alternatively spliced transcripts from 125 genes were significantly di

275 anscripts were considerably less stable than spliced transcripts, we found a global stabilization of

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

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

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

279 ly spliced 25-amino acid exon 9* mimicking a splice variant of alpha(1C) upregulated in the hypertrop

280 distinct and equally Xi-enriched alternative splice variant, macroH2A1.1.

281 Here, we show a role for a truncated NTRK2 splice variant, TrkB.T1, in human glioma.

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

283 n the alternative splicing of exon 1, type I splice variants (MOCS1A) either localize to the mitochon

284 One group of splice variants excludes the first transmembrane (TM) do

285 d 52 inherited, rare, large-effect coding or splice variants in 7 genes that were associated with gre

286 The exploration of NTRK splice variants in normal and neoplastic brain provides

287 al specificities of two highly similar CDC42 splice variants in regulating distinct stages of neuroge

288 Two splice variants of MPST, differing by 20 amino acids at

289 We here show that human BCO2 splice variants, BCO2a and BCO2b, are expressed as pre-p

290 nclude AR amplification and expression of AR splice variants, demonstrating that AR remains a key the

291 PKCbeta) expressed in mammalian cells as two splice variants, PKCbetaI and PKCbetaII, functions in th

292 alternative splicing to generate an array of splice variants.

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

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

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

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 nd valganciclovir in this disease.IMPORTANCE Spliced X-box binding protein 1 (XBP-1s), part of the un