Cell. 1992 May 1;69(3):495-503.

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

Barnes DE, Tomkinson AE, Lehmann AR, Webster AD, Lindahl T.

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Imperial Cancer Research Fund, Clare Hall Laboratories, South Mimms, Hertfordshire, England.

Abstract

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, stunted growth, and sun sensitivity. A strongly reduced ability of DNA ligase I to form a labeled enzyme-adenylate intermediate correlated with the genetic defect in 46BR cells. The data indicate that human DNA ligase I is required for joining of Okazaki fragments during lagging-strand DNA synthesis and the completion of DNA excision repair.

PMID:: 1581963; [PubMed - indexed for MEDLINE]

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Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I. [Mol Cell Biol. 1994]
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Prigent C, Satoh MS, Daly G, Barnes DE, Lindahl T. Mol Cell Biol. 1994 Jan; 14(1):310-7.
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Mutations in the DNA ligase I gene of an individual with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents.

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