ライフサイエンスコーパス: base substitution

1 rganisms, primarily because of a low rate of base substitution.

2 te-directed mutagenesis, usually by a single-base substitution.

3 with the promoter is weakened by a promoter base substitution.

4 varying from 2 to over 500 depending on the base substitution.

5 is explored by temperature jump kinetics and base-substitution.

6 gnificance of the G runs, we altered them by base substitutions.

7 f previously reported capreomycin resistance base substitutions.

8 ns, whereas 10.0% showed semitargeted single-base substitutions.

9 e greater than nucleotide-specific rates for base substitutions.

10 2-11 of the p53 gene where we identified 19 base substitutions.

11 as the potential to detect very rare de novo base substitutions.

12 for many more unmatched nucleotides than are base substitutions.

13 mino acid changes that can arise from single base substitutions.

14 be due to both inherited and somatic single base substitutions.

15 interactions in a group I ribozyme by single-base substitutions.

16 effect on deletions, simple frameshifts, or base substitutions.

17 ing frameshifts, deletions, duplications and base substitutions.

18 ntained a high proportion of unreported HPRT base substitutions, -1-bp deletions and multiple mutatio

19 P kinase and mismatch repair, have levels of base substitutions 15-fold higher and levels of certain

20 (4.6%) (mostly small deletions) and multiple-base substitutions (2.7%) also were detected.

21 nome sequences, here we show that each of 12 base substitution, 2 insertion/deletion (indel) and 6 re

22 Also, the level of semitargeted single-base substitutions 5' to the lesion was increased and 3'

23 directional sequencing identified the single-base substitution +57C>T in miR-184.

24 ectrum of mutations was predominantly G to T base substitutions, a result that is consistent with pre

25 Two base substitutions, A1913U and mU1915G, and a single bas

26 Here, the pathogenesis-associated base substitutions A3243G, T3250C, T3271C, A3302G and C3

27 Insertion/deletion events (indels) and base substitutions accounted equally for sequence differ

28 None of these species-based substitutions affected the ability of alphaIIbbeta

29 In the present study, we used base substitution analyses to assess the importance of i

30 Base substitution analysis showed that [4Fe-4S]-NsrR rec

31 hydrouracil induced mutant ant30-310 had one base substitution and a 25 bp deletion.

32 deletion of this region and a site-specific base substitution and a 3-base deletion in the CrfA comp

33 Compensatory base substitution and compensatory insertion/deletion ev

34 m in which T-->C is the most frequent single-base substitution and differs significantly from the clo

35 by high-fidelity polymerases and induce both base substitution and frame-shift mutations.

36 and the gyrB gene leading to Nal(r) and for base substitution and frameshift mutations that occur in

37 eading and mismatch repair (MMR) can lead to base substitution and frameshift mutations.

38 thesis polymerases leads to large numbers of base substitution and frameshift mutations.

39 is shown here to limit reverse transcriptase base substitution and indel 'errors' in the run of A's i

40 to genome rearrangements and revealed twelve base substitution and six rearrangement signatures.

41 Base substitutions and abasic replacements at the LTR te

42 characterized by enhancement of transversion base substitutions and certain (-1) frameshift mutations

43 ynthesizes DNA accurately, generating single-base substitutions and deletions at average error rates

44 induced psoralen-pcPNA mutations were single-base substitutions and deletions at the predicted pcPNA-

45 We also present evidence for base substitutions and deletions introduced to minisatel

46 Quantitative analysis of base substitutions and deletions occurring at the lesion

47 enesis of the targeted crosslinks results in base substitutions and deletions.

48 olished, leading to a great decrease in both base substitutions and deletions/insertions of 1-3 nucle

49 rameshift that is accompanied by one or more base substitutions and depends completely on the activit

50 DNA mismatch repair (MMR) genes elevate both base substitutions and insertions/deletions in simple se

51 ude nucleoside insertions and deletions, and base substitutions and modifications.

52 ed and accompanied by a moderate decrease in base substitutions and more significant decrease in dele

53 using a mutation model with a wide range of base substitutions and rearrangements.

54 sease-associated mutations constitute single-base substitutions and short deletions and/or insertions

55 The performance of OpEx for high-quality base substitutions and short indels in both small and la

56 ro for L612M pol delta are elevated for both base substitutions and single base deletions but in a hi

57 s in single-stranded DNA to uracils, causing base substitutions and strand breaks.

58 els is approximately 1/12th of the number of base substitutions and the average length of the indels

59 ajority of mutations that fixed (82.4%) were base substitutions and we failed to find any signatures

60 were hypermutated, with a high frequency of base substitutions, and an especially large relative exc

61 Finally, we show that while regenerant base substitutions are a likely major genetic cause of t

62 with the modified nucleotides, and specific base substitutions are dramatically reduced or eliminate

63 In both germline and somatic mutations, base substitutions are more abundant in regions of close

64 tant DNA fragments, each containing a single base substitution, are achieved using both single- and 1

65 mutational analysis involving every possible base substitution at each position within the loop segme

66 from the susceptible isolate revealed a one-base substitution at nucleotide position 1449 which resu

67 ncrease in the frequency of C to G or G to C base substitutions at a specific site within the cII tar

68 tain sequence contexts, and generates single base substitutions at an average rate of 2.4 x 10(-3), c

69 our analyses of human DM1 alleles containing base substitutions at CTCF-binding motifs indicate that

70 Pol also generates certain base substitutions at high rates within sequence context

71 It appeared that the majority of the base substitutions at or near the cross-links resulted f

72 nd ihfA by examining the effects of multiple base substitutions at sbyA and ihfA on binding and plasm

73 (2)t(3)T(4)G(5)G(6)G(7)G(8) repeat show that base substitutions at some sites do not substantially de

74 of property-conserving and property-altering base substitutions at the codon level by means of finite

75 ssociated with all individual amino acid and base substitutions at the interface.

76 e we examine the effect of single and double base substitutions at these positions on plasmid mobiliz

77 t repeat with its adjacent subsite, although base substitutions at this subsite did not reduce bindin

78 biotechnology tool emerged when a structure-based substitution at Asp-207 was shown to be an infrare

79 n twice as many unmatched nucleotides as are base substitutions between samples of chimpanzee and hum

80 del8bp) in exon 6, as well as a heterozygous base substitution (c.1208G-->A) in exon 11 that causes a

81 The results support the original idea that a base substitution can originate from a mismatch having W

82 In the low-transcription strain base substitutions comprised the majority (64%) of mutat

83 atic analysis of mutant proteins showed that base substitutions conferred increased enzymatic activit

84 rrow down the possibilities, 7-deaza adenine base substitutions (dA-->7) were engineered into homo-(d

85 stem that we developed in E. coli to monitor base substitutions, defining 33 base change substitution

86 We observed divergent spectra of single base substitutions derived from general and inducible hy

87 C base pairs in the supF gene were the major base substitution detected in all cell lines.

88 spectrum of fast-neutron (FN)-induced single base substitutions differed substantially from those of

89 flaA, and atpA) revealed a approximately 2% base substitution difference, on average, between the tw

90 Probes complementary to two base substitutions displayed the highest average specifi

91 Furthermore, the base substitution error frequency of the exonuclease-def

92 ntrinsic to four human DNA polymerases whose base substitution error rate during gap-filling DNA synt

93 e 1 replace uracil opposite template A or G, base substitution error rates are <or=0.3 to <or=2.8 x 1

94 hat the polymerase will make a mistake (i.e. base substitution error).

95 type Pol epsilon proofreads at least 92% of base substitution errors and at least 99% of frameshift

96 fact, combined with the high rate of single base substitution errors and complex mutations observed

97 in each microsatellite included noncanonical base substitution events and single nucleotide deletions

98 Together, the simulation and base substitution experiments predict that the coralyne-

99 The polymerase activity of hPol has a high base substitution fidelity (10(-4)-10(-7)) resulting fro

100 hree-subunit Pol delta does indeed have high base substitution fidelity for the 12 possible base-base

101 NA polymerase beta-DNA complex, although the base substitution fidelity of both polymerases is 10(-)(

102 proteins in the BER reaction may enhance the base substitution fidelity of DNA polymerase beta during

103 Surprisingly the base substitution fidelity of exonuclease-deficient Pol

104 The extremely low base substitution fidelity of human Rev1 (10(0) to 10(-5

105 However, the average base substitution fidelity of pol zeta is substantially

106 Under these conditions, the base substitution fidelity of polymerase beta-dependent

107 ther indicate that proofreading enhances the base substitution fidelity of the wild type enzyme by at

108 The base substitution fidelity of this mutant was kineticall

109 ype Pol delta and Pol epsilon both have high base substitution fidelity, Pol delta is much less accur

110 ity, implies that Pol delta should have high base substitution fidelity.

111 ajor determinant of polymerase conformation, base-substitution fidelity, and abasic-site translesion

112 This base substitution forms a valine-glutamic acid-glycine a

113 ion bypass was accompanied by an increase in base substitution frequency for the base preceding the l

114 ination of the ATG initiation codon by a one-base substitution (G > A) did not result in a complete l

115 t is, newly arisen and not inherited) single-base substitution, G608G(GGC > GGT), within exon 11.

116 A C to A base substitution has been identified at -571 bp in the

117 overproducing Smu10A displays one prominent base substitution hotspot in the rpoB gene, which coinci

118 t in the rpoB gene, which coincides with the base substitution hotspot we have observed in cells that

119 There are prominent base substitution hotspots in rpoB in both D. radioduran

120 The base substitution in agaF, which encodes EIIA(Aga/Gam) o

121 candidate genes for causing the major single-base substitution in cancer-associated DNA mutations.

122 Deep sequencing identified a single-base substitution in guanylate cyclase 2D, membrane (ret

123 olster evidence for a relatively low rate of base substitution in modern humans and highlight a centr

124 A single base substitution in SMN2, c.859G>C,, was identified in

125 d infectivity of CM972 and detected a single base substitution in TC_0236 in CM3.1 that may be respon

126 Bacterial one-hybrid experiments showed that base substitution in the expanded motif either increase

127 d 3T3-L1 cells demonstrated that this single base substitution in the putative E2 box significantly a

128 ry DNA strands to account for any particular base substitution in vivo (e.g. T-dGMP or A-dCMP for T t

129 nerates -1 frameshifts in "long" repeats and base substitutions in "short" repeats.

130 sequences of 518 kinase genes, revealing 90 base substitutions in 71 genes.

131 By contrast, base substitutions in an out-of-phase A/T-trinucleotide

132 lonA was weakly mutagenic inducing all three base substitutions in approximately equal frequency, whe

133 Viral RNA with base substitutions in both S1 and S2 failed to produce i

134 mina RNA-seq method that can assess noncoded base substitutions in mRNA at 10(-4)-10(-5) per base fre

135 t studies indicate that cumulative levels of base substitutions in mtDNA can be very low even in old

136 wever, there was a decrease in tandem double-base substitutions in Polzeta(+/-) Poleta(-/-) cells com

137 The rate of base substitutions in recent evolutionary history shows

138 ) but not Msh3 is involved in generating A/T base substitutions in somatic hypermutation.

139 We have accumulated over 20 single-base substitutions in T. thermophilus 16S and 23S rRNA,

140 The impact of specific base substitutions in the A-site RNA constructs on bindi

141 olzeta can simultaneously introduce multiple base substitutions in the absence of an accompanying fra

142 ase substitutions within the microsatellite, base substitutions in the flanking regions, indels in th

143 Single-base substitutions in the fnr and resA promoters were pe

144 Most of the R2 base substitutions in the forward mutation assay were ca

145 Base substitutions in the major eEF1A binding site or ad

146 e next correct nucleotide, generating single-base substitutions in the process.

147 complexes that form on the ECB elements, and base substitutions in the protected flank affect transcr

148 vivo transcription termination of systematic base substitutions in the T/U-tract of the pyrBI attenua

149 mplete genome sequences revealed 404 and 299 base substitutions in the two lines, the largest number

150 Because single-base substitutions in the UhpA-binding region had little

151 Most of the base substitutions in these regions caused large decreas

152 Base substitutions in these regions were almost exclusiv

153 aled that the frequency of several different base substitutions increased upon transcription of the b

154 red a low frequency of deletions relative to base substitutions, indicating that removal of retrotran

155 The frequency of multiple-base substitutions induced by AA was significantly reduc

156 mage and DNA repair processes that result in base substitutions, insertions and deletions or structur

157 ing thousands of somatic mutations including base substitutions, insertions and deletions, rearrangem

158 r how the primordial mutational processes of base substitutions, insertions, and deletions influence

159 comprise a distinctive molecular spectrum of base substitutions, insertions, and deletions that proba

160 re DNA sequences that are 100% identical (no base substitutions, insertions, or deletions) and locate

161 this sample of 779 kb, the divergence due to base substitution is 1.4%, and there is an additional 3.

162 can result in the Rif(r) phenotype by single-base substitution is more limited than in certain other

163 In contrast, the frequency of base substitutions is dependent on the activity of ERCC1

164 eriod, the ratio of nonsynonymous/synonymous base substitutions is unusually high, suggesting a rapid

165 as an ethyl-methane sulfonate derived single base substitutions, is limited by array coverage and sen

166 mas exhibit a specific combination of single-base substitutions, LOH, or large-scale genome instabili

167 d out using the BLOSUM matrices or structure-based substitution matrices SDM and HSDM when validated

168 HMMSUM (HMMSTR-based substitution matrices) is a new model for structur

169 However, maximum likelihood codon-based substitution models did not detect any site under

170 in bacterial and mammalian cells, leading to base substitutions (mostly M(1)dG to dT and M(1)dG to dA

171 roximately 70% of mutations comprised single-base substitutions, mostly at G.C base-pairs, with the r

172 The high rate of base substitution mutagenesis demonstrated by our experi

173 Through deletion and base substitution mutagenesis we identify GCAATTA elemen

174 esults in a large increase in frameshift and base substitution mutagenesis.

175 Using DNA methylation interference assay and base substitution mutation analysis, we show that NFY in

176 is of the narK2/X promoter region revealed a base substitution mutation in all tested BCG strains and

177 Spontaneous base substitution mutation rates increased sevenfold upo

178 y elevated frameshift mutation rates but not base substitution mutation rates.

179 h, fully half of spontaneous frame-shift and base-substitution mutation during starvation also requir

180 While base-substitution mutation rates are similar to those in

181 Established base-substitution mutation rates in eukaryotes range bet

182 de more rapid than the rate of Y-chromosomal base-substitution mutation, and given assumptions about

183 Strand realignment results in a base-substitution mutation, minimizing generation of mor

184 ted by structural studies possibly to permit base substitution, mutation of this U to C greatly inhib

185 melanomas with mutations had 1 to 4 UV type base substitution mutations (occurring at adjacent pyrim

186 eloped a new genetic assay that selects only base substitution mutations and additionally excludes C.

187 cer genome contains more than 17,000 somatic base substitution mutations and bears the imprint of a d

188 ants did not show an increase in the rate of base substitution mutations by the CAN1 forward mutation

189 A sequence analysis of the specificity of base substitution mutations generated in ndk and ndk mut

190 Base substitution mutations identified in the current st

191 (MMS), and showed that MMS also induces more base substitution mutations in BRCA1/2-deficient cells.

192 Single base substitution mutations in codons 248 and 273 of TP5

193 oxidative stress conditions the majority of base substitution mutations in ssDNA are caused by erron

194 0 region, was investigated using a series of base substitution mutations in the alpha-amylase promote

195 to rifampicin-resistance assay that detects base substitution mutations in the essential rpoB gene,

196 s of variants of EBV strain B95.8 containing base substitution mutations in this ZIIR element.

197 All APOBEC3G-induced base substitution mutations mapped to the nuclear CAN1 g

198 We estimate that approximately three base substitution mutations occur per cell per cell-doub

199 rived a good direct estimate for the rate of base substitution mutations on the human Y chromosome.

200 This is true for base substitution mutations that occur in the rpoB gene

201 Reverse transcriptase (RT) derived base substitution mutations were commonly found at sites

202 anti-[BP]-N(2)-dG adduct can cause all three base substitution mutations, and the SOS response in Esc

203 microsatellite stable but tended to acquire base substitution mutations, as confirmed by yeast funct

204 ild type but did show an altered spectrum of base substitution mutations, including an increased accu

205 f small insertion/deletion, duplication, and base substitution mutations, including G:C>T:A, G:C>A:T,

206 5% of the BRIMs and approximately 90% of the base substitution mutations.

207 xtent of the immunogenicity of nonsynonymous base substitution mutations.

208 ivation of Pol epsilon proofreading elevates base-substitution mutations and accelerates a unique spe

209 aracterize hundreds of spontaneously arising base-substitution mutations in 10 Caenorhabditis elegans

210 which directed the creation of deletant and base-substitution mutations of MuRF1 promoter constructs

211 significant effect on frame shifts and most base-substitution mutations.

212 The accumulation of base substitutions (mutations) not subject to natural se

213 Base substitution occurs at a high rate at CpG dinucleot

214 C>T in exon 3 of CPT1C, which determined the base substitution of an evolutionarily conserved Cys res

215 ed specific detection, and discrimination of base substitutions of a variety of synthetic nucleic aci

216 measure directly one mutation rate, that of base substitutions on the human Y chromosome.

217 e entire 2.2-Mb interval identified 2 single-base substitutions, one in an intergenic region and a se

218 ll as all mismatches, including three single-base substitutions, one microdeletion, one microinsertio

219 Motility-specific mutants resulted from base substitutions only in the fliC-coding region.

220 Mutation of the bulge by base substitution or deletion showed that the size of th

221 Each mutational lesion (single base substitution or deletion) extended the fabK ribosom

222 y distinct mutational routes that resolve to base substitutions or deletions.

223 mer extension is also observed, resulting in base substitutions or even +1 frameshifts.

224 reengineered reporters that detect specific base substitutions or frameshifts in lacZ with the rever

225 complex mutations comprising multiple nearby base substitutions or insertion-deletions.

226 anscription conditions, AID can cause single-base substitutions or MCMs.

227 e strain emm sequences as a result of single base substitutions or other alterations likely to be sta

228 We found that base substitutions outnumber frameshift mutations, as se

229 , have indicated that, in addition to single-base substitutions, Polkappa generates single-base delet

230 Second, specific tandem base substitutions (predominantly GC>TT/AA) occur in spe

231 We assess the similarity of base substitution processes, described by empirically de

232 We examined the neutral base substitution rate by measuring the sequence diverge

233 The neutral mutation rate is equal to the base substitution rate when the latter is not affected b

234 Using base substitution rates in intronic regions as a calibra

235 Analysis of synonymous base substitution rates indicated that the triplicated B

236 Single base deletion and base substitution rates measured in the lacZalpha gene i

237 Analysis of synonymous base substitution rates within modeled genes revealed a

238 s at average rates that substantially exceed base substitution rates.

239 from plants and among the lowest spontaneous base-substitution rates known in eukaryotes.

240 Mechanisms of base substitution, rates of accumulation, and the amount

241 most changes in repeat number occur through base substitutions rather than slippage, and the relativ

242 us to compare related TALEs and to identify base substitutions responsible for the evolution of TALE

243 igins establish a strand bias in the rate of base substitutions resulting from replication of unrepai

244 aled a remarkable diversity of deletions and base substitutions resulting in at least 34 different re

245 Single base substitutions (SBSs) and insertions/deletions are c

246 imized CSCE protocol detected 93 of 95 known base substitution sequence variants.

247 vely parallel DNA sequencing to characterize base substitutions, short insertions and deletions (inde

248 ty followed by those complementary to single base substitutions, single base deletions and single bas

249 Attenuation of age-dependent increases in base substitutions, small DNA insertions/deletions, and

250 eases have been found to be caused by single base substitutions, small insertions or deletions (<1Kb)

251 The in vitro and in vivo base substitution spectra shared a number of common feat

252 alian translesion DNA polymerase eta: tandem base substitutions, strand slippage, and small insertion

253 entify loci containing elevated densities of base substitutions suggestive of horizontal sequence tra

254 n is known to increase in older mothers, and base substitutions tend to go up with paternal reproduct

255 wever, we found a higher frequency of single base substitution than deletion mutations.

256 ion segment of the kinase domain as a single-base substitution that converts a valine to glutamic aci

257 Family 1 had a single-base substitution that led to the replacement of one gly

258 de polymorphism of the NTH1 gene is a G-to-T base substitution that results in the NTH1 D239Y variant

259 Base substitutions that decreased the downstream adenine

260 f 3HT and 5HT complexes is blocked by single-base substitutions that disrupt individual intermolecula

261 e a high-affinity hnRNP A1 binding site, and base substitutions that disrupt it restore exon 7 inclus

262 Base substitutions that disrupt the base triples reduce

263 However, base substitutions that prevent formation of the antiter

264 reviously reported as heteroplasmic for this base substitution, the mutation has subsequently been sh

265 ssense mutations, one frameshift, one single base substitution to a stop codon and one dinucleotide t

266 Comparison of the effects of nonpolar base substitution to the effects of abasic lesions repor

267 (23F)-1) multidrug-resistant lineage enabled base substitutions to be distinguished from polymorphism

268 We have shown that in cell culture, base substitutions to mimic editing at different combina

269 On average, <1 coding base substitution/tumor is lost through negative selecti

270 of point mutation and skewed distribution of base-substitution types in the mitochondrion, a very hig

271 ate the high-fidelity introduction of single-base substitutions via HDR following co-delivery with a

272 A single base substitution was detected in spl11, which results i

273 GENETIC STUDIES: A unique homozygous T to C base substitution was found in exon 6 in the vitamin D r

274 Surprisingly, when an additional G to A base substitution was introduced at position 3 of NHEIII

275 reover, a clear strand bias among UV-induced base substitutions was observed in wild-type cells that

276 on-gain alleles with that for derived single-base substitutions, we also provide evidence that newly

277 und no significant effect of parental age on base substitutions, we found that frameshift mutations a

278 '- and/or 3'-ends and by making compensatory base substitutions, we found that two elements interfere

279 Using somatic base substitutions, we reconstructed the early cell divi

280 DNA could lead to in vivo mutations, if this base substitution were efficiently elongated.

281 caused by poly-C tract variability; however, base substitutions were also prevalent, as follows: 14.7

282 Arachidonic acid-induced base substitutions were consistent with the presence of

283 All but one base substitutions were G:C to A:T, their distribution b

284 nternal or DNA 3'-end-directed cleavage, and base substitutions were tested at specific nucleotide po

285 However, we report that two-thirds of single base substitutions were tolerated without loss of activi

286 emains and one living relative, and a single-base substitution when compared with a second relative.

287 thin each lineage were highly conserved (<1% base substitutions), whereas sequences between lineages

288 3T cells, 5.8% of progeny contained targeted base substitutions, whereas 10.0% showed semitargeted si

289 ain mutations that we identified were single-base substitutions, whereas all of the PEST domain mutat

290 on (Zdhhc13luc) was identified as a nonsense base substitution, which results in a premature stop cod

291 cyclophosphamide and etoposide induce extra base substitutions with distinct spectra.

292 in mutagenesis, (+/-)-anti-BPDE induced 85% base substitutions with predominant G --> C followed by

293 Single and double base substitutions within adenine tracts modulate CPC de

294 s at least 2-fold more rapid than synonymous base substitutions within genes.

295 erator mutants, we found that several single base substitutions within the 14 bp recA operator sequen

296 interactions are absent within the loop, and base substitutions within the loop that favor such inter

297 Size homoplasy was apparent, caused by base substitutions within the microsatellite, base subst

298 ns and deletions, we assume HIV-1 evolves by base substitution without selection pressure during the

299 abling isolation of mutant lines with single-base substitutions without antibiotic selection.

300 cur at rates orders of magnitude higher than base substitutions, yet our understanding of the mechani