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Literature summary for 6.5.1.1 extracted from

  • Tome, S.; Panigrahi, G.B.; Lopez Castel, A.; Foiry, L.; Melton, D.W.; Gourdon, G.; Pearson, C.E.
    Maternal germline-specific effect of DNA ligase I on CTG/CAG instability (2011), Hum. Mol. Genet., 20, 2131-2143.
    View publication on PubMed
Search for more literature for 6.5.1.1

Protein Variants

Protein Variants Comment Organism
R771W mutant enzyme used in this study shows only 3% of normal activity Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
DNA ligase I
-
 Homo sapiens
LigI
-
 Homo sapiens

General Information

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