ライフサイエンスコーパス: repeat tract

1 occurring approximately 125 bp apart in the repeat tract.

2 all mod alleles exhibited variability in the repeat tract.

3 pansion of an intronic ATTCT pentanucleotide repeat tract.

4 ational increases in the length of a CTG.CAG repeat tract.

5 5'-flaps to stable internal loops inside the repeat tract.

6 s caused by expansion mutations in a d(GAA)n repeat tract.

7 eat markers that we developed that flank the repeat tract.

8 the IR is less than 3.6 kb from the CAG/CTG repeat tract.

9 to converge into a single haplotype near the repeat tract.

10 both expansions and contractions of the CAG repeat tract.

11 ith effectively decreasing the length of the repeat tract.

12 ation conferred by two interruptions of a 25-repeat tract.

13 plication from a primer complementary to the repeat tract.

14 duced by transcriptional slippage within the repeat tract.

15 using a single guide RNA (sgRNA) against the repeat tract.

16 duce targeted nicks adjacent to the (GAA)(n) repeat tract.

17 would occur across a (CAG)(70) or (CTG)(70) repeat tract.

18 ed with the position of a base lesion in the repeat tract.

19 ript at the HD repeat locus that contain the repeat tract.

20 n second motif lies either 3' or 5' of an AC repeat tract.

21 f a sequence interruption within the triplet repeat tract.

22 rNMPs, including sites within trinucleotide-repeat tracts.

23 ng destabilizes H.influenzae tetranucleotide repeat tracts.

24 nces but not those joined to double-stranded repeat tracts.

25 were greater for the longer tetranucleotide repeat tracts.

26 ght occur in much longer d[GCC](n).d[GCC](n) repeat tracts.

27 nd subtelomeric sequences and short terminal repeat tracts.

28 more abundant on telomeres with long TTAGGG repeat tracts.

29 lead to expansion and to contraction of CAG repeat tracts.

30 by means of end-to-end fusions of the mutant repeat tracts.

31 may be mediated by hairpins formed by these repeat tracts.

32 hs leading to expansions and contractions of repeat tracts.

33 hat both pms1 and msh2 mutations destabilize repeat tracts.

34 lor phenotype and reduction in length of the repeat tracts.

35 ons leads to alleles with longer perfect CGG-repeat tracts.

36 iation due to alterations in simple sequence repeat tracts.

37 TCF sites and extending towards the telomere repeat tracts.

38 lomeric repeat regions to terminal (TTAGGG)n repeat tracts.

39 hybrids enhances the instability of CTG.CAG repeat tracts.

40 ntribute to the genetic instability of these repeat tracts.

41 by expansion of CTG.CAG, GAA.TTC, or CGG.CCG repeat tracts.

42 incise DNA adjacent to damage, stabilize CAG repeat tracts.

43 distinguished by the extended length of the repeat tract (5-13 kb in postmortem tissue) and its loca

44 Excision of the Pu-Py mirror repeat tract abrogates the DNA damage response.

45 thway accumulate at convergently transcribed repeat tracts, accompanied by phosphorylation of ATR, CH

46 Mismatches partially stabilized the repeat tracts against expansion.

47 on are triggered by the accumulation of CCUG repeat tract alone.

48 Contractions of the repeat tract also occur, albeit at lower frequency.

49 thed DNA, slipped structures) at appropriate repeat tracts; also, numerous prior genetic instability

50 te within approximately 1-2 kb of the TTAGGG repeat tract and adjacent to a CpG-islands implicated in

51 sequence preference for the human telomeric repeat tract and predict that POT1 can bind both the 3'

52 All three alleles destabilize a long CAG repeat tract and yield more tract contractions than expa

53 a strong asymmetry between 3' and 5' ends of repeat tracts and is dependent upon the repeat motif, le

54 in replication stalling in duplex telomeric repeat tracts and the subsequent formation of telomeric

55 e various lengths and start positions in the repeat tract, and can thereby be annotated as mDRILS; wh

56 tive levels, it requires the presence of the repeat tract, and it occurs in both proliferating and no

57 g activity has not been reported for any HAT repeat tract, and recent literature has emphasized a pro

58 ted in deletion of approximately half of the repeat tract, and repair at an off-center location produ

59 xpanded with the length of the telomeric DNA repeat tract, and the number of telomeric nucleosomes in

60 The mechanism and timing of expansion of the repeat tract are poorly understood.

61 Longer CAG repeat tracts are associated with earlier ages at onset,

62 Dinucleotide repeat tracts are destabilized by mismatch repair (MMR)

63 tergenerational repeat expansion is unclear, repeat tracts are especially unstable during germline de

64 Inferences about longer repeat tracts are hampered by uncertainties about the pr

65 n somatic tissues of FRDA patients, (GAA)(n) repeat tracts are highly unstable, with contractions mor

66 aki fragments and/or double-strand breaks in repeat tracts are intermediates in CTG amplification.

67 These repeat tracts are involved in the etiologies of Friedrei

68 Small DNA repeat tracts are located throughout the human genome.

69 wever, do not form stable hairpins until the repeat tracts are quite long.

70 We also find that the 45 CAG repeat tracts are significantly more unstable with mater

71 Expanded CAG repeat tracts are the cause of at least a dozen neurodeg

72 Unusual physical properties of CAG repeat tracts are thought to contribute to their instabi

73 These repeat tracts are unstable and mediate high frequency, r

74 CAG repeat tracts are unstable in yeast, leading to frequent

75 The FMR1 mRNA contains the transcribed CGG-repeat tract as part of the 5' untranslated region, whic

76 chain reaction amplification across the SCA7 repeat tract assessed expansion levels in tissues of the

77 The repeat tract associated with 20 of these 51 genes was se

78 The complex variant repeat tract at the 3'-end of the array is relatively st

79 t common FMR1 mutation is expansion of a CGG repeat tract at the 5' end of FMR1, which leads to cytos

80 asic site analog, synthesized in the triplet-repeat tract at the 5' end of the template strand, induc

81 type 1 (SCA1), which carries an expanded CAG repeat tract at the endogenous mouse Sca1 locus.

82 king sequence varies and is smaller than the repeat tract at ~10.0-10.5 bp per turn.

83 critical to avoid slippage of hybrids along repeat tracts at allele-specific test sites in the array

84 Five mononucleotide repeat tracts at four different chromosomal locations we

85 in bind within 3 kb of the start of terminal repeat tracts at many, but not all, subtelomeres.

86 disorder caused by expansion of a pentameric repeat tract (ATTCT.AGAAT)(n) in intron 9 of the gene th

87 Repeat tracts bearing two G-to-A interruptions (polymorp

88 e propose that shortened, terminal telomeric repeat tracts become uncapped, promoting recombinational

89 tures in the single strands of d(CGG).d(CCG) repeat tracts but with conflicting conclusions.

90 ion, a mononucleotide expansion from a polyA repeat tract (c.132dupA) that causes protein truncation,

91 the type, frequency and position within the repeat tract, can alter clinical outcomes by modifying s

92 Long CAG repeat tracts cause human hereditary neurodegenerative d

93 -5',8-cyclo-2'-deoxyadenosine (cdA) in a CAG repeat tract caused CTG repeat deletion exclusively duri

94 hat DNA polymerases stall within the CTG.CAG repeat tracts causing nicks or double-strand breaks that

95 To understand the causes of CAG repeat tract changes that occur in the passage of human

96 ual properties alter the organization of CAG repeat tract chromatin.

97 e abasic site was moved to the middle of the repeat tract, consistent with effectively decreasing the

98 The DM2 repeat tract contains the complex repeat motif (TG)(n)(T

99 contributes to the orientation dependence of repeat tract contraction and limits repeat tract expansi

100 s with the orientation dependence of CAG.CTG repeat tract contraction.

101 onally-induced RNA:DNA hybrids, occurring at repeat tracts (CTG)n, (CAG)n, (CGG)n, (CCG)n and (GAA)n,

102 hree PMOs to selectively target expanded CAG repeat tracts (CTG22, CTG25 and CTG28), and two PMOs to

103 coli MMR pathway and active on dinucleotide repeat tracts, defects in H. influenzae MMR do not affec

104 viously shown that transcription through CAG repeat tracts destabilizes them in a way that depends on

105 rcular templates, but DSB repair outside the repeat tract did not affect instability.

106 In human patients and mouse models, CAG repeat tracts display an ongoing instability in neurons,

107 ope-tagged Hmo1 selectively precipitates CAG repeat tracts DNAs that range from 26 to 126 repeat unit

108 encoded protein nonfunctional, whereas short repeat tracts do not affect the phenotype.

109 Expansions of a (GAA)(n)/(TTC)(n) repeat tract during its transmission from parent to chil

110 DNA secondary structures that map within the repeat tracts during reannealing of complementary strand

111 al site in the HeLa genome, the Pu-Py mirror repeat tract elicits a polar replication fork barrier.

112 We have investigated meiotic changes in CAG repeat tracts embedded in a yeast chromosome.

113 t of replication and repair mutations on CAG repeat tracts embedded in a yeast chromosome.

114 erformed a yeast one-hybrid screen using CAG repeat tracts embedded in front of two reporter genes.

115 We report that CAG repeat tracts, embedded in yeast chromosomes, have a non

116 Phase variants with a 10G repeat tract exhibited a 2-fold reduction in surface exp

117 dence of repeat tract contraction and limits repeat tract expansion in both orientations.

118 The frequency of repeat tract expansion is controlled by both the 5'-3' e

119 rstanding the molecular mechanism of CAG.CTG repeat tract expansion is therefore important if we are

120 s, DNA base sequence is a possible factor in repeat tract expansion.

121 single-strand ends in the pathway of CAG.CTG repeat tract expansion.

122 ce of our results to two competing models of repeat tract expansion.

123 ding DNA ligase I, increase the incidence of repeat tract expansions to the greatest extent.

124 er weakening their interactions leads to CAG repeat tract expansions, we have employed alleles named

125 is ordered entry is necessary to prevent CAG repeat tract expansions.

126 Long AT repeat tracts form non-B DNA structures that stall DNA r

127 ctly ligated products generating a dimerized repeat tract formed substrates for rolling circle amplif

128 ity was associated with a switch in the PorA repeat tract from 11G to 10G.

129 ric polypurine-polypyrimidine (Pu-Py) mirror repeat tract from the human polycystic kidney disease (P

130 were instead able to incrementally generate repeat tracts from 100 to 200 CAGs in a yeast integratin

131 lecular triplex formation by 15 Pu.Py mirror repeat tracts from PKD1 intron 21 by 2D gel electrophore

132 The telomeric d(GGGGTT).d(AACCCC) repeat tracts (G4T2 repeats) in Tetrahymena thermophila

133 Replication initiated within the repeat tract generated significant expansion that was su

134 size, while saltatory expansions increase in repeat tracts > or = Okazaki fragment size.

135 me meiotic instability, and expansion of the repeat tract has been suggested to occur in the germ-lin

136 Single-stranded d(GAA)n repeat tracts, however, do not form stable hairpins unti

137 Only one of the DM2 repeat tracts, however, is found to expand.

138 The triplet repeat tract in a non-B conformation is the mutagen, not

139 e disease caused by expansion of a glutamine repeat tract in ataxin-1 (ATXN1).

140 the length of the simple sequence telomeric repeat tract in different cell types to the presence or

141 ithin the CpG island that abuts the expanded repeat tract in Dnmt1-deficient mice.

142 Expansion of the CAG trinucleotide repeat tract in exon 1 of the Huntingtin (HTT) gene caus

143 be important in modulating expansion of the repeat tract in germline and somatic cells.

144 on's disease (HD), caused by an expanded CAG repeat tract in HTT, genetic variation has been uncovere

145 ve stresses induce mutagenesis of a long CAG repeat tract in human cells.

146 RDA mutations involve expansion of a GAA*TTC-repeat tract in intron 1, which leads to an FXN mRNA def

147 tation, but further somatic expansion of the repeat tract in non-dividing cells, particularly striata

148 Surprisingly the SCA8 repeat tract in sperm underwent contractions, with nearl

149 f metabolism caused by an expansion of a GCA-repeat tract in the 5' untranslated region of the gene e

150 repeat mediated-gene silencing when the CGG-repeat tract in the 5' UTR exceeds 200 repeat units.

151 FRAXA coincides with a >200 CGG*CCG repeat tract in the 5' UTR of the FMR1 gene, and alleles

152 ion disease caused by expansion of a CGG.CCG-repeat tract in the 5' UTR of the FMR1 gene.

153 Expansion of a CGG-repeat tract in the 5'-untranslated region of the FMR1 g

154 d mutations that destabilize a minisatellite repeat tract in the ADE2 gene of Saccharomyces cerevisia

155 progressive expansion of a CAG trinucleotide repeat tract in the HD gene.

156 some formation causes kinking in a secondary repeat tract in the htt gene, comprised of CCG/CGG repea

157 the expansion of a cytosine-adenine-guanine repeat tract in the huntingtin gene (HTT).

158 ed by the expansion of the CAG trinucleotide repeat tract in the huntingtin gene.

159 rved; therefore, we chose to expand a 59 CAG repeat tract in vivo in Escherichia coli.

160 here that meiotic instability of the CAG/CTG repeat tract in yeast is associated with double-strand b

161 epeat stability, we constructed strains with repeat tracts in both orientations, either with or witho

162 cks or 1-base gaps within short (14 triplet) repeat tracts in DNA duplexes under physiological condit

163 uced function might destabilize expanded CAG repeat tracts in Drosophila, we crossed the SCA7 CAG90 r

164 thway in modulating the pathogenicity of the repeat tracts in HD, and possibly, in other trinucleotid

165 selection assay based on contraction of CAG repeat tracts in human cells, we screened the Prestwick

166 The abundance of long GAA trinucleotide repeat tracts in mammalian genomes represents a signific

167 o form in (CCTG)(58) x (CAGG)(58) and larger repeat tracts in plasmids at physiological superhelical

168 The capacity of (CTG.CAG)n and (GAA.TTC)n repeat tracts in plasmids to induce mutations in DNA fla

169 in plasmids harboring a pair of long GAA.TTC repeat tracts in the direct repeat orientation.

170 eatment with 5-aza-CdR strongly destabilized repeat tracts in the DMPK gene, with a clear bias toward

171 Expansions of CAG repeat tracts in the germ line underlie several neurolog

172 mmetry in the distribution of mononucleotide repeat tracts in the reference human genome.

173 promote repeat expansion, using (CTG)*(CAG) repeat tracts in the size range that is typical for myot

174 These results show that Hmo1 binds to CAG repeat tracts in vivo and establish the basis of their n

175 but added only short stretches of telomeric repeat tracts in vivo and in vitro.

176 polymerase beta, of several tetranucleotide repeat tracts in which the repeat units varied by one or

177 rruption are biased toward the 3' end of the repeat tract (in reference to the direction of lagging-s

178 fic transient pausing pattern within the CNG repeat tracts; individual incorporation rates were slowe

179 G67S strains displayed a higher frequency of repeat tract instabilities relative to CAN1 duplication

180 olymerase slippage plays a major role in the repeat tract instability and meiotic instability is seve

181 ified in a screen for mutants that displayed repeat tract instability and mutator phenotypes.

182 rad27Delta mutants display both a repeat tract instability phenotype and a high rate of fo

183 In repeat-tract instability assays, however, the rfc1::Tn3

184 elta) mutations in both forward mutation and repeat-tract instability assays.

185 cated that they displayed both a mutator and repeat-tract instability phenotype.

186 The CCTG portion of the repeat tract is interrupted on normal alleles, but, as i

187 n of the overall length of the telomeric DNA repeat tract is likely to be a key requirement for its v

188 The lic2A 5' CAAT repeat tract is preceded by four 5' ATG codons (x, y, z1

189 ing strand of strains harboring the ARS, the repeat tract is relatively stable regardless of the orie

190 ing strand of strains harboring the ARS, the repeat tract is relatively unstable regardless of the or

191 Expansion of a tandem repeat tract is responsible for the Repeat Expansion dis

192 ions of (CAG)(95) are more frequent when the repeat tract is transcribed.

193 main unknown, the stability of trinucleotide repeat tracts is affected by their position relative to

194 hat a narrow length distribution of telomere repeat tracts is observed.

195 The expansion of CAG.CTG repeat tracts is responsible for several neurodegenerati

196 ation of the DNA structure, localized to the repeat tracts, is responsible for these behaviors.

197 TNR instability is modulated both by the repeat tract itself and by cellular proteins.

198 progressive phenotypes, we have measured CTG repeat tract length and screened for interrupting varian

199 corresponding long-term behavior shaping the repeat tract length distribution.

200 y demonstrated that the r(GGGGCC)n RNA forms repeat tract length-dependent G-quadruplex structures th

201 nt contractions and infrequent expansions in repeat tract length.

202 amatic changes in chromatin structure and in repeat tract length.

203 ls using SCA7 cDNA clones with different CAG repeat tract lengths.

204 er, is associated with an expansion of a CTG repeat tract located in the 3'-untranslated region of a

205 interruptions within the CCTG portion of the repeat tract may predispose alleles to further expansion

206 Stabilization of telomeric repeat tracts may also be achieved through a telomerase-

207 onal association with RNA suggested that HAT repeat tracts might bind RNA.

208 g replication mutations that destabilize CAG repeat tracts, mutations of RAD27, encoding the flap end

209 Triplet repeat tracts occur throughout the human genome.

210 G)(25) x (CCG)(25) and (CAG)(25) x (CTG)(25) repeat tracts occurred with similar low rates.

211 c disorder caused by an expansion in the CAG repeat tract of the huntingtin (HTT) gene resulting in b

212 This widespread instability affects repeat tracts of all lengths and is usually attributed t

213 f polI destabilized tetranucleotide (5'AGTC) repeat tracts of chromosomally located reporter construc

214 d the expansions compared with uninterrupted repeat tracts of similar lengths.

215 frequency of frameshift mutations in the CA repeat tracts of the out-of-frame shuttle vector pZCA29

216 or instance, it was seen that mononucleotide repeat-tracts of Gs (or Cs) are highly unstable, a patte

217 The rate of recombination between directly repeated tracts of telomeric C1-3A/TG1-3 DNA was reduced

218 somes and linkers and the demonstration that repeating tracts of adenines can cause a curvature in DN

219 The expansions of long repeating tracts of CTG.CAG, CCTG.CAGG, and GAA.TTC are

220 strains harboring repeat tracts showed that repeat tracts often change in length.

221 possibility that indirect influences of the repeat tract on adjacent protein domains are contributor

222 effect of both the length and purity of the repeat tract on the propensity of slipped structure form

223 e that reveal the confounding effects of CGG-repeat tracts on both cloning and PCR.

224 also discuss how the effect of long CTG/CAG repeat tracts on splicing may contribute to the progress

225 nzyme cleavage in or near CGG*CCG or CTG*CAG repeat tracts on their genetic instabilities, both withi

226 ibition, whereas RNA duplexes containing CAG repeat tracts only induced gene-specific inhibition when

227 of the trinucleotide CAG, we have cloned CAG repeat tracts onto the 3' end of the Saccharomyces cerev

228 als can have either a pure uninterrupted CTG repeat tract or an allele with one or more CCG, CTA, CTC

229 ests that cooperative interactions in longer repeat tracts overwhelm perturbations to reassert the na

230 se variation of PorA is mediated by a poly-G repeat tract present within the promoter, leading to alt

231 most Haemophilus influenzae tetranucleotide repeat tracts, raising the possibility of multiple activ

232 Escape variants with alterations in the lgtG repeat tract rapidly accumulated in bacterial population

233 ted when the primer was complementary to the repeat tract rather than the flanking sequence.

234 hat interrupt the homogeneity of the CTG.CAG repeat tracts reduce the apparent recombination frequenc

235 this library suggests a preponderance of CA repeat tracts relative to their abundance in humans.

236 Notably, the periodicity of the repeat tract remained unchanged as a function of length

237 s with extremely long heterogeneous terminal repeat tracts, reminiscent of the long telomeres observe

238 e lengths and distribution of mononucleotide repeat-tracts revealed some interesting features.

239 proximately 100 bp upstream of the telomeric repeat tract sequence.

240 The repeat tract showed modest instability when it was not t

241 g from clonal expansion of strains harboring repeat tracts showed that repeat tracts often change in

242 features such as the start of each terminal repeat tract, SRE identity and organization, and subtelo

243 e rationalize the opposing effects of MMR on repeat tract stability with a model that accounts for CT

244 lta) do not have a significant effect on CAG repeat tract stability.

245 of the origin of replication relative to the repeat tract, supporting the 'fork-shift' model of repea

246 ble gene (NMB1994 or nadA) associated with a repeat tract (TAAA) not previously reported to be associ

247 tent predictors of SNP density, long (AT)(n) repeat tracts tending to be found in regions of signific

248 Mammalian telomeres contain a duplex TTAGGG-repeat tract terminating in a 3' single-stranded overhan

249 nsions (to give lengths longer than a single repeating tract) than deletions as observed for the CTG*

250 Somatic expansion of the CAG repeat tract that causes Huntington's disease (HD) is th

251 mouse lines containing a large expanded CTG repeat tract that replicated a number of the features of

252 ys, which included the CAG repeats and a CCG repeat tract that was thought to be invariant.

253 implicated in the expansion of trinucleotide repeat tracts that has been found to be responsible for

254 We previously showed that with d(CAG).d(CTG) repeat tracts there was a markedly greater tendency to f

255 amage which lead to inaccurate repair of the repeat tract to cause expansions are not fully understoo

256 quences on the ability of the nascent-strand repeat tract to expand during DNA replication.

257 y stable triplex structures which caused two repeat tracts to adhere to each other (sticky DNA).

258 0 repeats), orientation, or proximity of the repeat tracts to the origin (SV40) of replication.

259 that endometrial cancer cell lines with A10 repeat tract truncating mutations have a failure in the

260 rated that the outer halves of the telomeric repeat tracts turn over within a few hundred cell divisi

261 Repeat tracts undergo either conversion events between h

262 re the mechanisms by which CAG trinucleotide repeat tracts undergo length changes in yeast cells, we

263 Expansion of a subset of these repeat tracts underlies over fifty human disorders, incl

264 Although we set out to expand this repeat tract using a recombination paradigm involving tw

265 In addition, a GT repeat tract was found adjacent to the 5'-splice donor s

266 sis of the nadA transcript revealed that the repeat tract was located upstream of the putative -35 el

267 The nucleotide following the CAG repeat tract was usually G in all species studied.

268 ndividuals, and the normal (CGG)54 fragile X repeat tract, was analyzed using a synchronized in vitro

269 o gain insight into possible function of the repeat tract, we looked for evolutionary conservation.

270 se of our experiments that yielded these CAG repeat tracts, we evaluated the role of repeat orientati

271 Variant CAA or AAG triplets in the CAG repeat tracts were found in all 268 human, 28 monkey and

272 ncy of slippage events within mononucleotide repeat tracts were identified in three known phase varia

273 shaped structure) in plasmids with a pair of repeat tracts where n> or =60 in the direct repeat orien

274 Shorter repeat tracts (where n = 0 or 17) were essentially inert

275 ion of hypersensitivity in the middle of the repeat tract, whereas V1 digestion is consistent with a

276 ochemical substrates of SIRT6, polyhistidine repeat tracts, which are present in several previously i

277 HD) suggests that somatic instability of CAG repeat tracts, which can expand into the hundreds in neu

278 ult in increased rates of fragility of a CAG repeat tract while single or double deletions of RAD17 o

279 t expansions are biased to the 5' end of the repeat tract, while the tract contractions that do not r

280 nt of the SVA is a tandem polymorphic CCCTCT repeat tract whose length inversely correlates with the

281 leotide repeat expansion site, more than one repeat tract with similar sequences lie side by side.

282 ng a minimal in vitro system composed of the repeat tract, with and without unique flanking sequences

283 in packaging of healthy and diseased length repeat tracts within the genome.