ライフサイエンスコーパス: intragenic

1 We report an intragenic 38 Kb SEPT9 duplication that is linked to HNA

2 ive motor, could also partially suppress the intragenic 3xAsp.

3 ene expression level-dependent enrichment of intragenic 5-hmC in mouse cerebellum and an age-dependen

4 Intragenic 5-methylcytosine and CTCF mediate opposing ef

5 key transcriptional regulators display high intragenic 5hmC levels in precursor cells at those devel

6 Intragenic A208V and A382V suppressor mutations restore

7 esults establish that proper coordination of intragenic alternative splicing is essential for normal

8 y elements that regulate the coordination of intragenic alternative splicing.

9 tion of FCGR2B in B cells as possessing both intragenic and enhancer regulatory GWAS hits.

10 non-canonical translation products from both intragenic and extragenic genomic regions, including pep

11 o and in vitro studies had undergone diverse intragenic and extragenic mutational events relative to

12 t the majority of methylated CpG islands are intragenic and gene bodies are hypermethylated.

13 ombination breakpoints were partitioned into intragenic and intergenic events.

14 ive conditions an equal distribution between intragenic and intergenic locations was observed.

15 dentified associations between HU and 10 new intragenic and intergenic noncoding RNAs (ncRNAs), 2 of

16 Rs have a broad distribution of locations to intragenic and intergenic regions including both CpG isl

17 f methylated CpG islands were shown to be in intragenic and intergenic regions, whereas less than 3%

18 ly distributed between intergenic, upstream, intragenic, and downstream of genes, with novel sites id

19 We further show that transcription from two intragenic antisense promoters strongly decreases the le

20 We discovered intragenic AR gene rearrangements in CRPC tissues, which

21 Large genomic rearrangements with intragenic breakpoints altering key regulatory genes inv

22 frequently observed in the absence of direct intragenic breakpoints, suggesting a requirement for sus

23 Homozygous deletions, intragenic breaks, or microdeletions were found in 33% o

24 factor) and the Cohesin complex occupy these intragenic chromatin boundaries.

25 d COLDWRAP are required to form a repressive intragenic chromatin loop at the FLC locus by vernalizat

26 also provide evidence for the presence of an intragenic chromatin loop between the two CTCF binding s

27 manner by complex networks of intergenic and intragenic cis-regulatory elements whose numbers and rep

28 The intragenic class of terminators included a previously un

29 in 85 unrelated individuals carrying an NF1 intragenic CNV.

30 mal microarray were also applied to identify intragenic CNVs.

31 e of two additional previously published NF1 intragenic CNVs.

32 be the predominant mechanisms leading to NF1 intragenic CNVs.

33 nsatory mutations in rpoA or rpoC, and a new intragenic compensatory substitution was identified.

34 The reported lack of intragenic complementation among class M cobT alleles is

35 ver, glutathione S-transferase pulldowns and intragenic complementation analysis of selected transpos

36 hermore, genetic bypass, protein fusion, and intragenic complementation assays define two distinct ad

37 at both SMN(A111G) and SMN from SMN2 undergo intragenic complementation in vivo to function in hetero

38 vection is the basis for several examples of intragenic complementation involving the enhancers of on

39 ere able, for the first time, to demonstrate intragenic complementation of replication-defective NS5A

40 failed to restore AdoCbl biosynthesis during intragenic complementation studies.

41 otype resembling wild-type, but despite this intragenic complementation there are still changes in ho

42 tent, regions of alignment (exon, intron and intragenic), continuity of coverage, 3'/5' bias and coun

43 ons and suggested a breakpoint principle for intragenic copy number aberrations in fusion partners.

44 clinical specimens indicated that related AR intragenic copy number alterations occurred in CRPCa in

45 FLG also demonstrates intragenic copy number variation (CNV), with alleles enc

46 New research, however, shows that intragenic copy number variation within FLG also represe

47 n (aCGH) has revolutionized the detection of intragenic copy number variations.

48 Intragenic copy-number variants (CNVs) contribute to the

49 lly methylated regions (TS-DMRs) observed at intragenic CpG islands and low CG density promoters.

50 We demonstrate that the intragenic CpG islands within the first intron of the hu

51 ificantly different in promoter CpG islands, intragenic CpG islands, gene bodies, and H3K36me3-enrich

52 We highlighted that altered intragenic CpG-methylation impairs multiple aspects of t

53 y, recent findings report that DNMT3B shapes intragenic CpG-methylation of highly-transcribed genes.

54 original-site mutation, gene conversion, and intragenic crossover.

55 The high percentage of intragenic CRP binding sites and our demonstration that

56 associated mechanisms exist to both suppress intragenic cryptic promoters during genic transcription

57 Rpd3S histone deacetylase complex to repress intragenic cryptic transcription.

58 stone H4 interaction is important to repress intragenic cryptic transcription.

59 ng the histone H4 interaction motif leads to intragenic cryptic transcripts, indicating that the Set2

60 ne and 5-carboxylcytosine are enriched at an intragenic CTCF-binding sites in the CD45 model gene and

61 These findings suggest that RNAPII pauses at intragenic CTCF-cohesin binding sites and that abrogatio

62 with pausing factors SPT5 and NELF-A, at the intragenic CTCF-cohesin binding sites.

63 ne clinical diagnostic testing identified an intragenic de novo deletion of TRIO in a boy with ID.

64 We report the first intragenic deletion and frameshift mutations identified

65 Gene rearrangement in the form of an intragenic deletion is the primary mechanism of oncogeni

66 This intragenic deletion marked a specific CWR-R1 cell popula

67 PDGFRA intragenic deletion of exons 8 and 9 were previously sho

68 ressed in the resistant lines as a result of intragenic deletion of the c.6174delT mutation and resto

69 Here we report that intragenic deletion of the dystrophin-encoding and muscu

70 at affect multiple transcripts and Sld is an intragenic deletion of the kit ligand (Kitl) from which

71 identified de novo mutations, including one intragenic deletion probably disrupting normal splicing

72 gene, and six cases of PDGFRA(Delta8, 9), an intragenic deletion rearrangement.

73 mutations, four amino acid substitutions, an intragenic deletion, and a 4.7-Mb multigene deletion inv

74 plication-triplication re-arrangement and an intragenic deletion, predicted to result in altered tran

75 ere detected, including one homozygous BRCA1 intragenic deletion.

76 ght-year-old boy (A-II) with a de novo FOXP2 intragenic deletion.

77 pping and copy number analysis we identified intragenic deletions and mutations in OCLN in nine patie

78 xpected to change as previously unrecognized intragenic deletions are uncovered.

79 and careful review process, aCGH can uncover intragenic deletions as small as dozen bases.

80 mapping analysis for 62 clinical cases with intragenic deletions in the human DMD gene (50 cases) an

81 inactivating somatic mutations and frequent intragenic deletions of PARK2 in human malignancies.

82 We identified recurrent intragenic deletions of PAX5 or VPREB1 in constellation

83 to uncover the true detection size limit of intragenic deletions with this technology.

84 Our findings highlight the role of intragenic DNA methylation and DNA binding protein BORIS

85 pre-mRNA "splicing code" to include dynamic intragenic DNA methylation catalyzed by the TET proteins

86 The exact role of intragenic DNA methylation in regulating tissue-specific

87 s relatively well characterized, the role of intragenic DNA methylation remains unclear.

88 Here we report that the intragenic DNA methylation-mediated binding of Brother o

89 nding sites and our demonstration that these intragenic DNA sequences significantly contribute to bio

90 This permissive intragenic domain is constrained by sharp chromatin boun

91 The combination of this large intragenic duplication and 5T/12TG is the probable cause

92 s of multidomain inhibitors which evolved by intragenic duplication and are released by processing (e

93 to have evolved through sequential rounds of intragenic duplication from a primordial one-domain prec

94 ludes exons 1-5 of Elmod1, and rda(2J) is an intragenic duplication of exons 3-8 of Elmod1.

95 Intragenic duplications of the portion of FGFR1 encoding

96 the functional importance of this conserved intragenic element in the regulation of alternative spli

97 Little is known about the regulatory role of intragenic elements in C-function genes from species oth

98 inates a three-dimensional stricture between intragenic elements of CFTR bound by several cell-type s

99 sed definition of enhancer elements revealed intragenic enhancer methylation as a mechanism for high-

100 ely with nascent eRNA expression, the act of intragenic enhancer transcription alone, but not eRNAs,

101 ons, we demonstrate a physiological role for intragenic enhancer-mediated transcription attenuation i

102 E-box-GATA-ETS composite element of a Gata2 intragenic enhancer.

103 ependent activity and an ESC-specific distal intragenic enhancer; the latter is rapidly downregulated

104 Intergenic and intragenic enhancers found inside topologically associat

105 Here we show that activated, intragenic enhancers frequently act as alternative tissu

106 Here we show that transcription at intragenic enhancers interferes with and attenuates host

107 We propose that intragenic enhancers not only enhance transcription of o

108 We conclude that high-throughput mapping of intragenic epistasis can identify key structural and fun

109 uantitative description of pairwise/tertiary intragenic epistasis involving adaptive mutations.

110 o systematically survey a model landscape of intragenic epistasis, we quantified the fitness of ~60,0

111 he identification and characterization of an intragenic epistatic interaction between the attenuating

112 Restorative intragenic events included true phase variation, second-

113 positions outside of CpG islands and within intragenic (exon) regions of the zebrafish genome.

114 lectrophoretic mobility shift assay studies, intragenic FBs bound Fur with a lower affinity than inte

115 sequence logos of FURTA-positive clones with intragenic FBs than in the sequence logos generated from

116 nt of H3K36 methylation with H3K27me3 at the intragenic FLC nucleation site during the cold.

117 chromatin environment, resulted in increased intragenic FLO8 transcripts.

118 te thermal stress, HSP genes undergo intense intragenic folding interactions that go well beyond 5'-3

119 he mechanisms still poorly understood of the intragenic function of DNMT3B and DNA methylation in gen

120 supervised fusion transcripts, detection of intragenic fusion variants, homology scores and fusion f

121 ydrolysis and Pi release, and the effects of intragenic G31R suppressors on these reactions, and on t

122 stador') plants engineered to overexpress an intragenic gain-of-function allele of the type I proton

123 gene fusions, and finally via activation by intragenic gain-of-function mutations.

124 Methylation of intragenic (gene body) sequences was found to correlate

125 To date, only two clinically relevant intragenic genotype-phenotype correlations have been rep

126 cts preferentially associate with changes of intragenic H3K4me3 and at lesser extent of H3K27me3 and

127 Depletion of KDM5B or MRG15 increases intragenic H3K4me3, increases cryptic intragenic transcr

128 Certain intragenic highly conserved elements have been associate

129 e sequencing (WES) data to identify rare and intragenic homozygous and hemizygous (HMZ) deletions tha

130 ylation valleys; however, IMs generally lack intragenic hypomethylation signatures of advanced malign

131 f H-NS-suppressed transcripts in E. coli are intragenic in origin.

132 probably disrupting normal splicing and one intragenic insertion that results in a frameshift and pr

133 warfism conferred by Rht-B1c is caused by an intragenic insertion, which results in an in-frame 90-bp

134 We find that intragenic levels of the polycomb mark H3K27me3 anti-cor

135 iseases with early mortality and demonstrate intragenic localized patterns of variants that suggest p

136 Hydroxymethylation at both promoter and intragenic locations correlated positively with gene exp

137 ricted target genes are at distal inter- and intragenic locations.

138 es to analyze WBC DNA methylation of two ATM intragenic loci (ATMmvp2a and ATMmvp2b) and genome-wide

139 We discovered a novel intragenic long noncoding RNA (lncRNA) within the IGF1R

140 We found that formation of this intragenic loop preferentially enhances ANG transcriptio

141 which mediates transcription termination and intragenic looping at eukaryotic genes.

142 issue of Science, Tan-Wong et al. find that intragenic looping increases the proper orientation of R

143 a target of deletion in GBM, often via focal intragenic loss.

144 ation initiation, often requires splicing of intragenic material.

145 full-segment 2q23.1 deletions and those with intragenic MBD5 rearrangements, including alterations co

146 rating the antiquity of associations between intragenic methylation and gene expression.

147 s of neuronal gene inheriting high levels of intragenic methylation from the mother and maintaining t

148 These results support a major role for intragenic methylation in regulating cell context-specif

149 methylation is inversely correlated whereas intragenic methylation is directly correlated with gene

150 Consistent with previous work we found that intragenic methylation is positively correlated with gen

151 Tissue-specific intragenic methylation might reduce, or, paradoxically,

152 To investigate the role of intragenic methylation, we generated a map of DNA methyl

153 cancer cell lines, we identified homozygous intragenic microdeletions involving genes encoding compo

154 Importantly, intragenic microdeletions of the EGFR phosphatase PTPRS

155 Searching specifically for small intragenic microdeletions using high-resolution genomic

156 Here, we show that miR-483-5p, an intragenic microRNA of the imprinted IGF2, regulates MeC

157 -exon boundaries, alternative promoters, and intragenic microRNAs.

158 Intragenic miRNAs account for approximately 50% of mamma

159 e show that evolutionarily conserved ('old') intragenic miRNAs tend to be coexpressed with host genes

160 As dominate in human genome, the majority of intragenic miRNAs that show coexpression with host genes

161 ed in this study-deep intronic mutations and intragenic modifiers-might represent more generalizable

162 bundles suggests that the proteins arose by intragenic multiplication.

163 uggests that the proteins may have arisen by intragenic multiplication.

164 The reported alleles having an intragenic mutation could not be causally associated wit

165 ccRCC), the most common type, begins with an intragenic mutation in the von Hippel-Lindau (VHL) gene

166 signaling is altered by allelic deletion or intragenic mutation of the Smad4 gene in more than half

167 tional cooperating genetic events, including intragenic mutations and copy number alterations, are re

168 The dinB intragenic mutations examined were either base pair subs

169 ce to cisplatin can be mediated by secondary intragenic mutations in BRCA2 that restore the wild-type

170 -mutated tumors can be mediated by secondary intragenic mutations in BRCA2 that restore the wild-type

171 he 18S rRNA in the 40S ribosomal subunit and intragenic mutations in domain II of eIF5B suppress the

172 We identified nine independent intragenic mutations in this chimeric gene that suppress

173 proach enables the identification of smaller intragenic mutations including single-nucleotide variant

174 Results Five patients were identified with intragenic mutations predicted to restore BRCA1/2 open r

175 These intragenic mutations suppress all of the evaluated isp-1

176 ly demonstrated to spontaneously acquire two intragenic mutations that decrease both resistance level

177 at status, TS expression levels reported, TS intragenic mutations, and TP53 status in outbred and exp

178 ve revealed ~140 genes that, when altered by intragenic mutations, can promote or "drive" tumorigenes

179 o promoter hypermethylation or other somatic intragenic mutations.

180 ant firing of replication origins to explain intragenic nonrecurrent rearrangements within genes, inc

181 ly significant increase in the proportion of intragenic novel L1s in DLPFC of PDS.

182 re we identify a single point mutation at an intragenic nucleation site within FLC that prevents this

183 Loss of chdC caused an increase of intragenic nucleosome spacing and misregulation of gene

184 neage-specific pattern of expression and are intragenic or adjacent to TH lineage-specific genes enco

185 Six intragenic ouf suppressors with near wild-type (WT) JA p

186 plification (MLPA) showed the presence of an intragenic paternally derived duplication involving exon

187 asons thought to involve differences both in intragenic Pkd1 mutations and in modifier alleles.

188 is tissue-specific DNA methylation regulates intragenic promoter activity in vitro and in vivo.

189 ibed by RNA polymerase III (Pol III) from an intragenic promoter at levels similar to that of the cap

190 trols UBI4 by inducing transcription from an intragenic promoter, and the resulting truncated mRNA en

191 richia coli ehxCABD operon contains numerous intragenic promoters in both sense and antisense orienta

192 allow transcription initiation from cryptic intragenic promoters.

193 report the isolation and characterization of intragenic pseudoreversions of one such thermostabilizin

194 t, enhancer RNAs and to be more prominent in intragenic, rather than intergenic, enhancers.

195 orms in 22Rv1 CRPCa cells is associated with intragenic rearrangement of an approximately 35-kb AR ge

196 rons 1, 2, 3, and 50 were also identified as intragenic-rearrangement hotspots within NF1.

197 r, these data provide the first report of AR intragenic rearrangements in CRPCa and an association wi

198 ted by flanking low-copy repeats (LCRs), NF1 intragenic rearrangements vary in size, location, and re

199 ame and the third population carried both an intragenic recombinant NSP3 gene and an intergenic recom

200 that each of two populations bore a distinct intragenic recombinant NSP3 gene consisting of a partial

201 ix-loop-helix family transcription factor by intragenic recombinants and provided unambiguous evidenc

202 in-frame sequence duplications, whereas most intragenic recombinants were homologous.

203 e bz gene were performed and more than 2,500 intragenic recombinants were scored.

204 We find extensive intragenic recombination among all haplotypes except the

205 Next, we examined intragenic recombination among the core genes and found

206 ea mays) NLR protein Rp1-D21 derives from an intragenic recombination between two NLRs, Rp1-D and Rp1

207 We are interested in how intragenic recombination contributes to the evolution of

208 However, significant associations between intragenic recombination events and variation in gene ex

209 This kept the overall number of intragenic recombination events nearly invariable in a g

210 However, intragenic recombination events not associated with flan

211 Intragenic recombination explores a unique subset of seq

212 ere observed, suggesting potential roles for intragenic recombination in plant phenotypic diversity.

213 Intragenic recombination is active in these introns, as

214 rains is generated principally by mutations, intragenic recombination is higher within genes situated

215 expected by random chance alone, and neither intragenic recombination nor increased mutability can ex

216 y the H1H2 haplotype, a result attributed to intragenic recombination.

217 duplicated, the loxPint module serves as an intragenic recombineering point that can be used for the

218 with ERalpha-binding sites or located in the intragenic region of estrogen-regulated genes.

219 ed with former and non-smokers, including an intragenic region of the aryl hydrocarbon receptor repre

220 CDKN2A/B, EXT2, FTO, HHEX-IDE, IGF2BP2, the intragenic region on 11p12, JAZF1, KCNQ1, LOC387761, MTN

221 is particularly enriched at promoters and in intragenic regions (gene bodies) but is largely absent f

222 eals that KDM5B is predominantly targeted to intragenic regions and that it is recruited to H3K36me3

223 g of 5hmC revealed its specific reduction on intragenic regions from both GDM and preeclampsia compar

224 ranscription from cryptic start sites within intragenic regions of actively transcribed genes.

225 mitigating RNA polymerase II progression in intragenic regions of actively transcribed genes.

226 onic fibroblasts (MEFs) and is restricted to intragenic regions of actively transcribing genes by EHM

227 ly regulates histone H3K4 methylation within intragenic regions of its target genes.

228 demonstrate the recognition of promoter and intragenic regions of multiple mmpL genes by these prote

229 ting RNAPII colocalize extensively along the intragenic regions of TGFbeta target genes.

230 locus sequence typing (TLST) scheme based on intragenic regions of two antigenic genes, ace and salA

231 In the intergenic and intragenic regions on the X chromosome, the sites outsid

232 ncRNAs can be transcribed from intergenic or intragenic regions or from introns of protein-coding gen

233 a samples showed differential methylation of intragenic regions that strongly correlated with express

234 " GASs were re-annotated to the promoters or intragenic regions using Ensembl, UCSC and AceView gene

235 d histone acetylation that were localized to intragenic regions, enriched for Myc DNA binding motifs,

236 od (ISS), which predicts phased sequences of intragenic regions, using SNPs.

237 -specific EKLF occupancy is predominantly in intragenic regions.

238 trong bias for TDMR location in non-promoter intragenic regions.

239 including enrichment of 5fC in enhancer and intragenic regions.

240 t6 both contribute to restricting H2A.Z from intragenic regions.

241 mbination and duplication and/or deletion of intragenic repeats.

242 We show significant hypermethylation of one intragenic repetitive element in breast cancer cases com

243 f methylation variability is associated with intragenic repetitive elements.

244 ong-range interaction occurring between this intragenic response element and the transcription start

245 s included true phase variation, second-site intragenic reversion, and insertion and deletion of shor

246 However, secondary intragenic (reversion) mutations that restore protein fu

247 We performed an intragenic screen for suppressors of lethality induced b

248 on and characterization of three independent intragenic second-site suppressors of the rne-1 and rne-

249 eshifting in the RF2 gene (prfB) involves an intragenic Shine-Dalgarno (SD) sequence.

250 An intragenic single nucleotide polymorphism and an extrage

251 ary, we present an algorithm to detect rare, intragenic, single-exon deletion CNVs using WES data; th

252 c Polycomb complexes/H3K27me3 at a localized intragenic site during the cold.

253 Only the intragenic SNP on 11p12 (rs9300039, dominant P [P(d)] =

254 We identified intragenic suppressing mutations that rescued the oligom

255 An intragenic suppressor introducing a positive charge rest

256 tein encoded by the previously characterized intragenic suppressor mutant log1-1, with an arginine in

257 The evidence is based on results from an intragenic suppressor mutation screen and domain swappin

258 Together with an intragenic suppressor mutation that mimics benzamide bin

259 defect in MurJ biogenesis; by engineering an intragenic suppressor mutation that restores MurJ biogen

260 sms regulating CheZ activity, we isolated 10 intragenic suppressor mutations of cheZ21IT that restore

261 itution mutations, and spontaneously arising intragenic suppressor mutations on intracellular replica

262 ting cells with small molecule correctors or intragenic suppressor mutations.

263 nt substitution, A375V, was identified as an intragenic suppressor of D103V, a negative mutant enzyme

264 Collectively, the properties of intragenic suppressor strains lead us to postulate that

265 We selected for intragenic suppressors of dnaN5 that rescued viability a

266 We isolated three intragenic suppressors of dnaN5 that restored growth at

267 Second-site intragenic suppressors of E467A isolated within the SBD

268 ctions in FtsA function in vivo, we isolated intragenic suppressors of ftsA27.

269 sis screen, we were then able to identify 11 intragenic suppressors of hmp-1(fe4) that revert actin b

270 recA4162 (I298V) and recA4164 (L126V) are intragenic suppressors of the constitutive SOS phenotype

271 Intragenic suppressors of these activated alleles cluste

272 Analysis of intragenic suppressors of this mutant suggests it has di

273 The isolated intragenic suppressors support the critical role of the

274 hat inactivate AmtB and here characterize 38 intragenic suppressors upstream of the C terminus ( appr

275 Here we report a series of intragenic suppressors, all located within a highly cons

276 g in CRPCa 22Rv1 cells was linked to a 35-kb intragenic tandem duplication of AR exon 3 and flanking

277 of yeast genes and revealed many examples of intragenic TL heterogeneity.

278 lloproteinase (MMP) genes MMP1 and MMP10 and intragenic to MMP2.

279 o promoters, one of which requires sequences intragenic to Rv0250c for maximum expression.

280 mplex FACT mutants, including an increase in intragenic transcription and the accumulation of free hi

281 Together, our results reveal intragenic transcription as a unique mechanism to downre

282 rol alternative splicing or prevent spurious intragenic transcription in animals.

283 Widespread intragenic transcription initiation has been observed in

284 nstrated that the short isoforms result from intragenic transcription of ASE1, which depends on the S

285 Ethanol also caused aberrant intragenic transcription termination for mRNAs with low

286 reases intragenic H3K4me3, increases cryptic intragenic transcription, and inhibits transcriptional e

287 ith specific chromatin regulators to inhibit intragenic transcription.

288 e in transcribed regions poses a barrier for intragenic transcription.

289 ic interactions indicative of suppression of intragenic transcription.

290 a unique nucleotide frequency for initiating intragenic transcription.

291 Although intragenic transcripts are widely expressed [1], their r

292 Intragenic transcripts initiate within the coding region

293 ety of RNAs including numerous antisense and intragenic transcripts, leaderless RNAs, long untranslat

294 Thus, the intragenic UBI4 promoter is critical to preventing ubiqu

295 ain has (i) fostered accumulation of cryptic intragenic variation and (ii) enabled unmasking of such

296 ce, the pleiotropic mechanisms by which this intragenic variation contributes to lifespan regulation

297 Intragenic variation in codon bias and elongation rate i

298 Discrimination between intragenic VRN-H1 markers was achieved, indicating that

299 e phenotypes can be partially restored by an intragenic W130A mutation.

300 asses: intergenic (at the ends of genes) and intragenic (within genes).