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Article

Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents.

Cell - 1 May 1992

Barnes D E, Tomkinson A E, Lehmann A R, Webster A D, Lindahl T

Abstract excerpt

Two missense mutations occurring in different alleles of the DNA ligase I gene, encoding the major DNA ligase in proliferating mammalian cells, were detected in a human fibroblast strain (46BR). These cells exhibit retarded joining of Okazaki fragments during DNA replication and hypersensitivity to a variety of DNA-damaging agents. 46BR was derived from a patient who displayed symptoms of immunodeficiency,...

Topics

Alleles
Base Sequence
Bloom Syndrome
Cells, Cultured
DNA Damage
DNA Ligase ATP
DNA Ligases
DNA Repair
Female
Growth Disorders
Humans
Immunologic Deficiency Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

In Vitro Techniques

Molecular Sequence Data

Mutation

Polymerase Chain Reaction

Sequence Alignment

Source

Identifiers

PMID: 1581963
DOI: 10.1016/0092-8674(92)90450-q

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1581963-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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