ライフサイエンスコーパス: CTG repeat

17 equences containing an even or odd number of CTG repeats adopt stem-loop hairpins that differ from on

18 In all 29 cell lines, the expanded CTG repeat alleles gradually shifted toward further expa

19 sis that preferential transmission of larger CTG-repeat alleles during female meiosis can compensate

20 odel for examining segregation distortion of CTG-repeat alleles in normal families.

21 epeats, we have used haplotype data from the CTG repeat and Alu(+/-) locus.

22 entify two CTCF-binding sites that flank the CTG repeat and form an insulator element between DMPK an

23 le for the association between expanded CAG/ CTG repeats and bipolar disorder.

24 o assess the general interaction between CAG/CTG repeats and the histone core, we determined the effi

25 Thus, the structure of the CTG repeats and/or their utilization by the DNA syntheti

26 studies of the DM1 locus have shown that the CTG repeats are a component of a CTCF-dependent insulato

27 Expansion-prone CAG/CTG repeats are actively transcribed and prone to formin

28 Short CTG repeats are found within the most favored DNA sequen

29 he more general hypothesis that expanded CAG/CTG repeats are implicated in the pathogenesis of bipola

30 Alleles in the normal range of CTG repeats are not as unstable as the (CTG)(> or = 50)

31 Thus, CAG/CTG repeats are particularly flexible, whereas GCC, CGG

32 CAG/CTG repeats are prone to expansion, causing several inhe

33 Expanded CAG/CTG repeats are sites of DNA damage, leading to repeat l

34 We found that CAG/CTG repeats are stable in RAD27 +/- cells if the tract i

35 CAG/CTG repeats are structure-forming repetitive DNA sequenc

36 Expanded disease-associated alleles of >50 CTG repeats are unstable in both the germline and soma.

37 d by repeat expansion, indicating that large CTG-repeat arrays may be associated with a local chromat

38 In a search for polymorphic CTG repeats as candidate genes for bipolar disorder, we

39 An expansion of a CTG repeat at the DM1 locus causes myotonic dystrophy (D

40 DM cases (with an estimated threshold at 653 CTG repeats), but also for all DM1 clinical subtypes.

41 Expansion of CAG/CTG repeats causes certain neurological and neurodegener

42 and genetic burden, the number of excessive CTG repeats causing DM1.

43 cherichia coli and poor in vitro ligation of CTG repeat concatemers due to strand slippage.

44 We found stabilization of the CTG repeat concurrent with a gradual loss of methylation

45 ditions for producing uninterrupted expanded CTG repeats consisting of up to 2000 repeats using 29 DN

46 The features of CTG repeat-containing sequences that direct eucaryal nuc

47 ats, at nonrepeating sequences, or for CAG . CTG repeat contractions.

48 DM1 originates in an abnormal expansion of CTG repeats (CTG(exp)) in the DMPK gene.

49 adenosine (cdA) in a CAG repeat tract caused CTG repeat deletion exclusively during DNA lagging stran

50 vidence that oxidative DNA damage can induce CTG repeat deletions along with limited expansions in hu

51 (SCA7), one of the most unstable of all CAG/CTG repeat disease loci.

52 zed in vitro DNA synthesis using various CAG*CTG repeat DNA substrates that are similar to base excis

53 probes double-stranded DNA fragments having CTG repeats [ds(CTG)6-10] and single-stranded oligonucle

54 ffect of an MSH2 knock-down (MSH2KD) on both CTG repeat dynamics and CpG methylation pattern in human

55 1 of 37 (30%) of the FSP patients with a CAG/CTG repeat expansion are unaccounted for by the SEF2-1 a

56 implicated as a genetic modifier of the CAG.CTG repeat expansion disorders Huntington's disease and

57 rce of repeat expansions in HD and other CAG/CTG repeat expansion disorders.

58 en suggested as a therapeutic target for CAG.CTG repeat expansion disorders.

59 We have examined the consequences of CTG repeat expansion for nucleosome assembly and positio

60 expansions, we found that cells with larger CTG repeat expansion had a growth advantage over those w

61 erogeneous multisystemic disease caused by a CTG repeat expansion in DMPK.

62 We have addressed the genetics of CAG.CTG repeat expansion in E. coli and shown that these rep

63 DM1 is caused by a CTG repeat expansion in the 3' untranslated region of th

64 multisystemic genetic disorder caused by the CTG repeat expansion in the 3'-untranslated region of DM

65 lex disease caused by a genetically unstable CTG repeat expansion in the 3'-untranslated region of th

66 The causative mutation in DM1 is a CTG repeat expansion in the 3'-untranslated region of th

67 DM1 is caused by a CTG repeat expansion in the DMPK gene that, when express

68 40 years and is genetically associated with CTG repeat expansion in Transcription factor-4 (TCF4) ge

69 The genetic defect in DM is a CTG repeat expansion located in the 3' untranslated regi

70 The exact relationship between mutant CTG repeat expansion size and clinical outcome remains u

71 ultisystemic disorder caused by an inherited CTG repeat expansion which affects three genes encoding

72 While DNA repair has been implicated in CAG.CTG repeat expansion, its role in the GAA.TTC expansion

73 tude of this effect depends on the extent of CTG repeat expansion.

74 synthesis is considered a major path for CAG/CTG repeat expansion.

75 SH2 and MSH3, is known to have a role in CAG.CTG repeat expansion.

76 RNA-mediated disease caused by a non-coding CTG repeat expansion.

77 DM1 is caused by a trinucleotide (CTG) repeat expansion within the 3' untranslated region

78 muscular disorder caused by a trinucleotide (CTG) repeat expansion.

79 minant neuromuscular disease, is caused by a CTG-repeat expansion, with affected individuals having >

80 expressed in brain tissue that exhibits CAG/CTG repeat expansions and its expression is elevated in

81 CAG and CTG repeat expansions are the cause of at least a dozen

82 ed Polo as a potent factor that promotes CAG*CTG repeat expansions in HD and other neurodegenerative

83 E) cells in FECD individuals with or without CTG repeat expansions in TCF4, we performed RNA-sequenci

84 dominantly inherited and is caused by large CTG repeat expansions in the untranslated antisense RNA

85 and beta on during DNA synthesis induces CAG/CTG repeat expansions.

86 Together, these results demonstrate that CTG-repeat expansions can suppress local gene expression

87 er, we show that even short tracts of duplex CTG repeats have an unusual helix structure.

88 Recently, two new expanded CAG/CTG repeats have been identified that are not associated

89 nthetic self-priming DNA, containing CAG and CTG repeats implicated in Huntington's disease and sever

90 existence of a JPH3 splice variant with the CTG repeat in 3' untranslated region suggested that tran

91 nfigurations and instability patterns of the CTG repeat in affected and unaffected family members.

92 matic mosaicism of a transgenic expanded CAG.CTG repeat in mice deficient for the Pms2 MMR gene.

93 disorder associated with the expansion of a CTG repeat in the 3' untranslated region (UTR) of the DM

94 e genetic basis of DM1 is the expansion of a CTG repeat in the 3' untranslated region of a protein ki

95 t disorder resulting from the expansion of a CTG repeat in the 3' untranslated region of a putative p

96 in adult humans, results from expansion of a CTG repeat in the 3' untranslated region of the DMPK gen

97 92, DM was shown to be caused by an expanded CTG repeat in the 3' untranslated region of the dystroph

98 4 at zero recombination was obtained for the CTG repeat in the 3' untranslated region of the myotonic

99 DM1 is caused by expansion of a CTG repeat in the 3' UTR of the DMPK gene.

100 In DM1 a CTG repeat in the 3'-untranslated region of DMPK is expa

101 phy type 1 (DM1) is caused by expansion of a CTG repeat in the DMPK gene, where expansion size and so

102 nsion of a germline and somatically unstable CTG repeat in the DMPK gene.

103 phy type 1 (DM1) is caused by expansion of a CTG repeat in the DMPK gene.

104 DM1 is caused by expansion of a CTG repeat in the DMPK gene.

105 rophy type 1 is caused by the expansion of a CTG repeat in the gene.

106 ure inhibits flap processing at CAG, CGG, or CTG repeats in a length-dependent manner by concealing t

107 electively complexes CUG repeats in RNA (and CTG repeats in DNA) with high nanomolar affinity.

108 A patient with approximately 90 CTG repeats in muscle DNA (normal n < 37) showed a 20% r

109 DM1 is caused by expanded CTG repeats in the 3' untranslated region of the DMPK ge

110 rophy type 1 (DM1) is caused by expansion of CTG repeats in the 3' UTR of the DMPK gene.

111 disorder caused by the aberrant expansion of CTG repeats in the 3'-untranslated region of the DMPK ge

112 riplet repeating disorder caused by expanded CTG repeats in the 3'-untranslated region of the dystrop

113 strophy (DM) is associated with expansion of CTG repeats in the 3'-untranslated region of the myotoni

114 rophy, we generated Drosophila incorporating CTG repeats in the 3'-UTR of a reporter gene.

115 It is caused by expanded CTG repeats in the 3'-UTR of the dystrophia myotonica pr

116 uscle-specific expression of large tracts of CTG repeats in the context of DMPK exon 15.

117 dystrophy type 1 (DM1) is caused by expanded CTG repeats in the DMPK 3'-untranslated region, affectin

118 Here, we investigate the behavior of CAG/CTG repeats incorporated into nucleosome core particles,

119 e DNA in the nucleosome as the number of CAG/CTG repeats increased, regardless of the flanking sequen

120 elicase-deficient mutants, breakage at a CAG/CTG repeat increases.

121 tion of two Z1 molecules at both ends of the CTG repeat induces thymine base flipping and DNA backbon

122 is partially accounted for by the number of CTG repeats inherited.

123 To study the molecular basis of CAG/CTG repeat instability and its pathological significance

124 act stability with a model that accounts for CTG repeat instability and loss of orientation dependenc

125 lishing a potential mechanistic link between CTG repeat instability and upstream CpG methylation.

126 which can explain the expansion bias of DM1 CTG repeat instability at the tissue level, on a basis i

127 In summary, we suggest that CAG.CTG repeat instability in cultured astrocytes is dynamic

128 bilizing and destabilizing effects of MMR on CTG repeat instability in E. coli.

129 ution of double-strand break repair to CAG x CTG repeat instability in mammalian systems, we develope

130 , generation of such repeats was hindered by CTG repeat instability in plasmid vectors maintained in

131 t of the repeat sequence is required for CAG/CTG repeat instability in the case of spinocerebellar at

132 We monitored CAG.CTG repeat instability in transgenic mouse cells arreste

133 se repeats are believed to contribute to CAG/CTG repeat instability.

134 lp provide new mechanistic insights into CAG*CTG repeat instability.

135 in AB1157, deletion rates for 25-60 (CAG) x (CTG) repeats integrated in the chromosome ranged from 6.

136 XO1 was affected by the stem-loops formed by CTG repeats interrupting duplex regions adjacent to 5'-f

137 G tract at the 5'-end and a complex array of CTG repeats interspersed with multiple GGC and CCG repea

138 The SCA8 CTG repeat is preceded by a polymorphic but stable CTA t

139 The contraction of CAG/CTG repeats is an attractive approach to correct the mut

140 aps 0.7 kb downstream (centromeric) from the CTG repeats is eliminated on DM chromosomes.

141 sequences, as the expansion frequency of CAG/CTG repeats is increased in FEN1 mutants in vitro and in

142 G tract revealed that the expansion of large CTG repeats is one event rather than an accumulation of

143 t stability and that maintenance of long CAG/CTG repeats is particularly sensitive to Fen1 levels.

144 reduction in curvature of phased A-tracts by CTG repeats is similar to that afforded by an interspers

145 Instability of CTG repeats is thought to arise from their capacity to f

146 length of the targeted CAG repeat and on the CTG repeat length and concentration of the PMO.

147 We have analyzed the CTG repeat length and the neighboring Alu insertion/dele

148 Previously, CTG repeat length at birth has been correlated to patien

149 A significant reduction of CTG repeat length by 100-350 (CTG).(CAG) repeats often o

150 Our results show that the CTG repeat length is variable in human populations.

151 Attempts to correlate CTG repeat length with progressive DM1 phenotypes, such

152 Detailed analysis of CTG repeat length, and incorporation of confounding fact

153 dividual and two DM1 patients with different CTG repeats lengths and clinical history (DM1-1300 and D

154 ity in myotonic muscular dystrophy, multiple CTG repeats lie upstream of a gene that encodes a novel

155 childhood (2-8 years) independent of sex or CTG repeat load.

156 The CTG repeat locus, termed CTG18.1, is located within an i

157 a indicates that cells containing longer CAG/CTG repeats need more Fen1 protein to maintain tract sta

158 ividuals from the Venezuelan cohort with CAG/CTG repeat numbers ranging from 37 to 62.

159 ype is observed in patients encoding similar CTG repeat numbers.

160 Polymerase beta expansions of CAG/CTG repeats, observed over a 32-min period at rates of a

161 n, the association of the Alu(+) allele with CTG repeats of 5 and > or = 19 is complete, whereas the

162 six different sequence configurations of the CTG repeat on expanded alleles in a seven generation fam

163 Our results suggest that the effect of the CTG repeat on the DMAHP/SIX5 promoter is variable and ti

164 ty that DM2 is also caused by expansion of a CTG repeat or related sequence.

165 The CTG.CAG sequences in orientation II (CTG repeats present on a lagging strand template) recomb

166 alled SVG-A was tested for expansions of CAG*CTG repeats present on a shuttle vector.

167 CTG repeats reduce overall curvature associated with pha

168 Furthermore, while the CAG/CTG repeats remain as a canonical duplex in the nucleoso

169 frequent expansions were observed only when CTG repeats resided on the lagging daughter strand.

170 A lesion located at the 5'-end of CTG repeats resulted in expansion, whereas a lesion loca

171 ing analyses of the genomic DNA flanking the CTG repeat revealed that the degree of methylation in mu

172 However, the CTG repeat sequence is efficiently wrapped around the hi

173 Thus short segments CTG repeat sequence will facilitate the assembly of a st

174 ic dystrophy is caused by the expansion of a CTG repeat sequence.

175 Expansion of CTG repeat sequences is associated with several human ge

176 The expansion of CAG.CTG repeat sequences is the cause of several inherited h

177 epeat landscapes involving telomeric and CAG/CTG repeat sequences.

178 myotonic dystrophy type 1 (DM1), an expanded CTG repeat shows repeat size instability in somatic and

179 eats, might show the same pattern as d(CAG).(CTG) repeats since they are also involved in trinucleoti

180 est whether the structures formed by CAG and CTG repeat slip-outs can cause transcription arrest in v

181 e highly efficient in vitro repair of single CTG repeat slip-outs, to the same degree as hMutSbeta.

182 and single-stranded oligonucleotides having CTG repeats ss(CTG)8 or RNA CUG triplet repeats (CUG)8.

183 We evaluated CAG/CTG repeat stability and repair outcomes in histone H2 m

184 r for sequences containing an even number of CTG repeats than for sequences containing an odd number

185 neuromuscular disorder caused by an expanded CTG repeat that is transcribed into r(CUG)(exp) The RNA

186 isorder that is caused by the expansion of a CTG repeat that shows extremely high levels of somatic i

187 veals that pathogenic expansions of the DMPK CTG repeat that underlie Myotonic Dystrophy 1 are charac

188 ated transgenic mouse models of unstable CAG.CTG repeats that reconstitute the dynamic nature of soma

189 For hairpins containing CTG repeats, the extent of p53 binding was proportional

190 is work highlights the innate ability of CAG/CTG repeats to incorporate and to position in nucleosome

191 nts have expansions similar in size (107-127 CTG repeats) to those found among adult-onset DM patient

192 rasts with the orientation dependence of CAG.CTG repeat tract contraction.

193 Understanding the molecular mechanism of CAG.CTG repeat tract expansion is therefore important if we

194 5' single-strand ends in the pathway of CAG.CTG repeat tract expansion.

195 how here that meiotic instability of the CAG/CTG repeat tract in yeast is associated with double-stra

196 ith progressive phenotypes, we have measured CTG repeat tract length and screened for interrupting va

197 sorder, is associated with an expansion of a CTG repeat tract located in the 3'-untranslated region o

198 viduals can have either a pure uninterrupted CTG repeat tract or an allele with one or more CCG, CTA,

199 enic mouse lines containing a large expanded CTG repeat tract that replicated a number of the feature

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

201 The expansion of CAG.CTG repeat tracts is responsible for several neurodegene

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

203 Of all the CAG/CTG repeat transgenic mice produced to date the AR YAC C

204 epair of short slip-outs containing a single CTG repeat unit (1).

205 tely 10 +/- 1 s) within the first and second CTG repeat unit and a more transient barrier to elongati

206 To understand the evolution of CTG repeats, we have used haplotype data from the CTG re

207 Moreover, loops containing 23 CTG repeats were less efficiently excised from heterodup

208 e 1 x 10(-5) to 4 x 10(-5) per generation if CTG repeats were replicated on the lagging daughter stra

209 lation to the nucleosome associated with the CTG repeat, whereas the expanded allele in congenital DM

210 We find that as few as six CTG repeats will facilitate nucleosome assembly to a sim

211 omplex with DNA containing three consecutive CTG repeats with three T:T mismatches.

212 e 1 is associated with an expansion of (>50) CTG repeats within the 3' untranslated region (UTR) of t

213 This gene possesses a trinucleotide (CTG) repeat within exon 1.