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Article

LIG1 syndrome mutations remodel a cooperative network of ligand binding interactions to compromise ligation efficiency.

Nucleic acids research - 22 Feb 2021

Jurkiw Thomas J, Tumbale Percy P, Schellenberg Matthew J, Cunningham-Rundles Charlotte, Williams R Scott, O'Brien Patrick J

Abstract excerpt

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...

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Identifiers

PMID: 33444456
DOI: 10.1093/nar/gkaa1297
PMCID: PMC7897520

Genes

LIG1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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