PubMed:15198993
Annnotations
PubMed_ArguminSci
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 138-230 | DRI_Approach | denotes | The expansion of CAG.CTG repeat sequences is the cause of several inherited human disorders. |
T2 | 231-416 | DRI_Background | denotes | Longer alleles are associated with an earlier age of onset and more severe symptoms, and are highly unstable in the germline and soma with a marked tendency towards repeat length gains. |
T3 | 417-627 | DRI_Challenge | denotes | Germinal expansions underlie anticipation; whereas age-dependent, tissue-specific, expansion-biased somatic instability probably contributes toward the progressive nature and tissue-specificity of the symptoms. |
T4 | 628-777 | DRI_Outcome | denotes | The mechanism(s) of repeat instability is not known, but recent data have implicated mismatch-repair (MMR) gene mutS homologues in driving expansion. |
T5 | 778-963 | DRI_Outcome | denotes | To gain further insight into the expansion mechanism, we have determined the levels of somatic mosaicism of a transgenic expanded CAG.CTG repeat in mice deficient for the Pms2 MMR gene. |
T6 | 964-1063 | DRI_Challenge | denotes | Pms2 is a MutL homologue that plays a critical role in the downstream processing of DNA mismatches. |
T7 | 1064-1145 | DRI_Background | denotes | The rate of somatic expansion was reduced by approximately 50% in Pms2-null mice. |
T8 | 1146-1235 | DRI_Background | denotes | A higher frequency of rare, but very large, deletions was also detected in these animals. |
T9 | 1236-1424 | DRI_Background | denotes | No significant differences were observed between Pms2(+/+) and Pms2(+/-) mice, indicating that a single functional Pms2 allele is sufficient to generate normal levels of somatic mosaicism. |
T10 | 1425-1636 | DRI_Outcome | denotes | These findings reveal that as well as MMR enzymes that directly bind mismatched DNA, proteins that are subsequently recruited to the complex also play a central role in the accumulation of repeat length changes. |
T11 | 1637-1834 | DRI_Outcome | denotes | These data suggest that somatic expansion results not by replication slippage, single stranded annealing or simple MutS-mediated stabilization of secondary structures, but by inappropriate DNA MMR. |
c_corpus
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-3 | CHEBI:53396 | denotes | Pms |
T4 | 0-3 | CHEBI:53430 | denotes | Pms |
T6 | 0-3 | CHEBI:8055 | denotes | Pms |
T7 | 0-4 | PR:P54279 | denotes | Pms2 |
T8 | 0-4 | PR:F1NQJ3 | denotes | Pms2 |
T9 | 0-4 | PR:P38920 | denotes | Pms2 |
T10 | 0-4 | PR:000012914 | denotes | Pms2 |
T11 | 0-4 | PR:P54278 | denotes | Pms2 |
T12 | 18-26 | SO:0000165 | denotes | enhancer |
T13 | 30-43 | CHEBI:74953 | denotes | trinucleotide |
T14 | 44-47 | CVCL_D569 | denotes | CAG |
T15 | 52-58 | SO:0001068 | denotes | repeat |
T16 | 120-126 | SO:0001068 | denotes | repeat |
T17 | 155-158 | CVCL_D569 | denotes | CAG |
T18 | 163-169 | SO:0001068 | denotes | repeat |
T19 | 214-219 | D006801 | denotes | human |
T20 | 360-364 | 204362 | denotes | soma |
T21 | 360-364 | D002328 | denotes | soma |
T22 | 360-364 | D002328 | denotes | soma |
T23 | 396-402 | SO:0001068 | denotes | repeat |
T24 | 483-489 | UBERON:0000479 | denotes | tissue |
T25 | 592-598 | UBERON:0000479 | denotes | tissue |
T26 | 648-654 | SO:0001068 | denotes | repeat |
T27 | 713-728 | GO:0006298 | denotes | mismatch-repair |
T30 | 730-733 | P22897 | denotes | MMR |
T31 | 730-733 | PR:000002972 | denotes | MMR |
T32 | 730-733 | Q61830 | denotes | MMR |
T29 | 730-733 | CVCL_E779 | denotes | MMR |
T28 | 730-733 | GO:0006298 | denotes | MMR |
T33 | 735-739 | SO:0000704 | denotes | gene |
T34 | 740-744 | PR:000023326 | denotes | mutS |
T35 | 740-744 | PR:P23909 | denotes | mutS |
T36 | 740-744 | PR:Q2FYZ9 | denotes | mutS |
T37 | 781-785 | SO:0001742 | denotes | gain |
T38 | 888-898 | SO:0000781 | denotes | transgenic |
T39 | 908-911 | CVCL_D569 | denotes | CAG |
T40 | 916-922 | SO:0001068 | denotes | repeat |
T42 | 926-930 | D051379 | denotes | mice |
T44 | 926-930 | 10095 | denotes | mice |
T41 | 926-930 | PR:000005054 | denotes | mice |
T43 | 926-930 | O89094 | denotes | mice |
T45 | 949-952 | CHEBI:53396 | denotes | Pms |
T48 | 949-952 | CHEBI:53430 | denotes | Pms |
T50 | 949-952 | CHEBI:8055 | denotes | Pms |
T51 | 949-953 | PR:P54279 | denotes | Pms2 |
T52 | 949-953 | PR:F1NQJ3 | denotes | Pms2 |
T53 | 949-953 | PR:P38920 | denotes | Pms2 |
T54 | 949-953 | PR:000012914 | denotes | Pms2 |
T55 | 949-953 | PR:P54278 | denotes | Pms2 |
T56 | 954-957 | GO:0006298 | denotes | MMR |
T58 | 954-957 | P22897 | denotes | MMR |
T59 | 954-957 | PR:000002972 | denotes | MMR |
T60 | 954-957 | Q61830 | denotes | MMR |
T57 | 954-957 | CVCL_E779 | denotes | MMR |
T61 | 958-962 | SO:0000704 | denotes | gene |
T62 | 964-967 | CHEBI:53396 | denotes | Pms |
T65 | 964-967 | CHEBI:53430 | denotes | Pms |
T67 | 964-967 | CHEBI:8055 | denotes | Pms |
T68 | 964-968 | PR:P54279 | denotes | Pms2 |
T69 | 964-968 | PR:F1NQJ3 | denotes | Pms2 |
T70 | 964-968 | PR:P38920 | denotes | Pms2 |
T71 | 964-968 | PR:000012914 | denotes | Pms2 |
T72 | 964-968 | PR:P54278 | denotes | Pms2 |
T73 | 974-978 | PR:000023324 | denotes | MutL |
T74 | 974-978 | PR:Q93T05 | denotes | MutL |
T75 | 974-978 | PR:P23367 | denotes | MutL |
T76 | 979-988 | SO:0000853 | denotes | homologue |
T77 | 1023-1033 | SO:0001633 | denotes | downstream |
T80 | 1048-1051 | SO:0000352 | denotes | DNA |
T78 | 1048-1051 | GO:0005574 | denotes | DNA |
T79 | 1048-1051 | CHEBI:16991 | denotes | DNA |
T81 | 1048-1051 | D004247 | denotes | DNA |
T82 | 1130-1133 | CHEBI:53396 | denotes | Pms |
T85 | 1130-1133 | CHEBI:53430 | denotes | Pms |
T87 | 1130-1133 | CHEBI:8055 | denotes | Pms |
T88 | 1130-1134 | PR:P54279 | denotes | Pms2 |
T89 | 1130-1134 | PR:F1NQJ3 | denotes | Pms2 |
T90 | 1130-1134 | PR:P38920 | denotes | Pms2 |
T91 | 1130-1134 | PR:000012914 | denotes | Pms2 |
T92 | 1130-1134 | PR:P54278 | denotes | Pms2 |
T93 | 1140-1144 | PR:000005054 | denotes | mice |
T95 | 1140-1144 | O89094 | denotes | mice |
T94 | 1140-1144 | D051379 | denotes | mice |
T96 | 1140-1144 | 10095 | denotes | mice |
T97 | 1285-1288 | CHEBI:53396 | denotes | Pms |
T100 | 1285-1288 | CHEBI:53430 | denotes | Pms |
T102 | 1285-1288 | CHEBI:8055 | denotes | Pms |
T103 | 1285-1289 | PR:P54279 | denotes | Pms2 |
T104 | 1285-1289 | PR:F1NQJ3 | denotes | Pms2 |
T105 | 1285-1289 | PR:P38920 | denotes | Pms2 |
T106 | 1285-1289 | PR:000012914 | denotes | Pms2 |
T107 | 1285-1289 | PR:P54278 | denotes | Pms2 |
T108 | 1299-1302 | CHEBI:53396 | denotes | Pms |
T111 | 1299-1302 | CHEBI:53430 | denotes | Pms |
T113 | 1299-1302 | CHEBI:8055 | denotes | Pms |
T114 | 1299-1303 | PR:P54279 | denotes | Pms2 |
T115 | 1299-1303 | PR:F1NQJ3 | denotes | Pms2 |
T116 | 1299-1303 | PR:P38920 | denotes | Pms2 |
T117 | 1299-1303 | PR:000012914 | denotes | Pms2 |
T118 | 1299-1303 | PR:P54278 | denotes | Pms2 |
T119 | 1309-1313 | PR:000005054 | denotes | mice |
T121 | 1309-1313 | O89094 | denotes | mice |
T120 | 1309-1313 | D051379 | denotes | mice |
T122 | 1309-1313 | 10095 | denotes | mice |
T123 | 1351-1354 | CHEBI:53396 | denotes | Pms |
T126 | 1351-1354 | CHEBI:53430 | denotes | Pms |
T128 | 1351-1354 | CHEBI:8055 | denotes | Pms |
T129 | 1351-1355 | PR:P54279 | denotes | Pms2 |
T130 | 1351-1355 | PR:F1NQJ3 | denotes | Pms2 |
T131 | 1351-1355 | PR:P38920 | denotes | Pms2 |
T132 | 1351-1355 | PR:000012914 | denotes | Pms2 |
T133 | 1351-1355 | PR:P54278 | denotes | Pms2 |
T134 | 1356-1362 | SO:0001023 | denotes | allele |
T135 | 1463-1466 | GO:0006298 | denotes | MMR |
T137 | 1463-1466 | P22897 | denotes | MMR |
T138 | 1463-1466 | PR:000002972 | denotes | MMR |
T139 | 1463-1466 | Q61830 | denotes | MMR |
T136 | 1463-1466 | CVCL_E779 | denotes | MMR |
T142 | 1505-1508 | SO:0000352 | denotes | DNA |
T141 | 1505-1508 | CHEBI:16991 | denotes | DNA |
T143 | 1505-1508 | D004247 | denotes | DNA |
T140 | 1505-1508 | GO:0005574 | denotes | DNA |
T144 | 1510-1518 | CHEBI:36080 | denotes | proteins |
T145 | 1614-1620 | SO:0001068 | denotes | repeat |
T146 | 1752-1756 | PR:000023326 | denotes | MutS |
T147 | 1752-1756 | PR:P23909 | denotes | MutS |
T148 | 1752-1756 | PR:Q2FYZ9 | denotes | MutS |
T151 | 1826-1829 | SO:0000352 | denotes | DNA |
T149 | 1826-1829 | GO:0005574 | denotes | DNA |
T150 | 1826-1829 | CHEBI:16991 | denotes | DNA |
T152 | 1826-1829 | D004247 | denotes | DNA |
T153 | 1830-1833 | GO:0006298 | denotes | MMR |
T154 | 1830-1833 | CVCL_E779 | denotes | MMR |
T155 | 1830-1833 | P22897 | denotes | MMR |
T156 | 1830-1833 | PR:000002972 | denotes | MMR |
T157 | 1830-1833 | Q61830 | denotes | MMR |