Ontology highlight
ABSTRACT:
SUBMITTER: Jurkiw TJ
PROVIDER: S-EPMC7897520 | biostudies-literature | 2021 Feb
REPOSITORIES: biostudies-literature
Jurkiw Thomas J TJ Tumbale Percy P PP Schellenberg Matthew J MJ Cunningham-Rundles Charlotte C Williams R Scott RS O'Brien Patrick J PJ
Nucleic acids research 20210201 3
Human DNA ligase I (LIG1) is the main replicative ligase and it also seals DNA breaks to complete DNA repair and recombination pathways. Immune compromised patients harbor hypomorphic LIG1 alleles encoding substitutions of conserved arginine residues, R771W and R641L, that compromise LIG1 activity through poorly defined mechanisms. To understand the molecular basis of LIG1 syndrome mutations, we determined high resolution X-ray structures and performed systematic biochemical characterization of ...[more]