Protein Variants | Comment | Organism |
---|---|---|
R771W | mutant enzyme used in this study shows only 3% of normal activity | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Synonyms | Comment | Organism |
---|---|---|
DNA ligase I | - |
Homo sapiens |
LigI | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | the level of CTG instability in transgenic DM1 mice with more than 300 CTG repeats which are crossed to mice carrying the homozygous 46BR LigI mutation (only 3% normal activity) and in vitro replication of CTG DNA templates by protein extracts from the 46BR.1G1 LIGI-deficient cell line is assessed. The 46BR LigI enhances CTG contractions in maternal transmissions but not paternal transmissions or somatic tissues. The presence of CTG contractions in oocytes and a replication template-specific effect of the 46BR LigI support a role for LigI in maternal allele-specific CTG instability | Homo sapiens |