| http://purl.uniprot.org/citations/21378394 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21378394 | http://www.w3.org/2000/01/rdf-schema#comment | "The instability of (CTG)•(CAG) repeats can cause >15 diseases including myotonic dystrophy, DM1. Instability can arise during DNA replication, repair or recombination, where sealing of nicks by DNA ligase I (LIGI) is a final step. The role of LIGI in CTG/CAG instability was determined using in vitro and in vivo approaches. Cell extracts from a human (46BR) harbouring a deficient LIGI (∼3% normal activity) were used to replicate CTG/CAG repeats; and DM1 mice with >300 CTG repeats were crossed with mice harbouring the 46BR LigI. In mice, the defective LigI reduced the frequency of CTG expansions and increased CTG contraction frequencies on female transmissions. Neither male transmissions nor somatic CTG instability was affected by the 46BR LigI - indicating a post-female germline segregation event. Replication-mediated instability was affected by the 46BR LIGI in a manner that depended upon the location of Okazaki fragment initiation relative to the repeat tract; on certain templates, the expansion bias was unaltered by the mutant LIGI, similar to paternal transmissions and somatic tissues; however, a replication fork-shift reduced expansions and increased contractions, similar to maternal transmissions. The presence of contractions in oocytes suggests that the DM1 replication profile specific to pre-meiotic oogenesis replication of maternal alleles is distinct from that occurring in other tissues and, when mediated by the mutant LigI, is predisposed to CTG contractions. Thus, unlike other DNA metabolizing enzymes studied to date, LigI has a highly specific role in CTG repeat maintenance in the maternal germline, involved in mediating CTG expansions and in the avoidance of maternal CTG contractions."xsd:string |
| http://purl.uniprot.org/citations/21378394 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddr099"xsd:string |
| http://purl.uniprot.org/citations/21378394 | http://purl.uniprot.org/core/author | "Melton D.W."xsd:string |
| http://purl.uniprot.org/citations/21378394 | http://purl.uniprot.org/core/author | "Gourdon G."xsd:string |
| http://purl.uniprot.org/citations/21378394 | http://purl.uniprot.org/core/author | "Panigrahi G.B."xsd:string |
| http://purl.uniprot.org/citations/21378394 | http://purl.uniprot.org/core/author | "Pearson C.E."xsd:string |
| http://purl.uniprot.org/citations/21378394 | http://purl.uniprot.org/core/author | "Tome S."xsd:string |
| http://purl.uniprot.org/citations/21378394 | http://purl.uniprot.org/core/author | "Foiry L."xsd:string |
| http://purl.uniprot.org/citations/21378394 | http://purl.uniprot.org/core/author | "Lopez Castel A."xsd:string |
| http://purl.uniprot.org/citations/21378394 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21378394 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
| http://purl.uniprot.org/citations/21378394 | http://purl.uniprot.org/core/pages | "2131-2143"xsd:string |
| http://purl.uniprot.org/citations/21378394 | http://purl.uniprot.org/core/title | "Maternal germline-specific effect of DNA ligase I on CTG/CAG instability."xsd:string |
| http://purl.uniprot.org/citations/21378394 | http://purl.uniprot.org/core/volume | "20"xsd:string |
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