ライフサイエンスコーパス: CTG repeat

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

43 1 of 37 (30%) of the FSP patients with a CAG/CTG repeat expansion are unaccounted for by the SEF2-1 a

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

72 92, DM was shown to be caused by an expanded CTG repeat in the 3' untranslated region of the dystroph

73 4 at zero recombination was obtained for the CTG repeat in the 3' untranslated region of the myotonic

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

130 CTG repeats reduce overall curvature associated with pha

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

153 5' single-strand ends in the pathway of CAG.CTG repeat tract expansion.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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