NDLI: Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I.

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Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I.

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Loss of thrombospondin transcriptional activity in nickel-transformed cells.

Evidence for a role of the Drosophila melanogaster suppressor of sable gene in the pre-mRNA splicing pathway.

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Two Fission Yeast B-Type Cyclins, Cig2 and Cdc13, Have Different Functions in Mitosis

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Aberrant DNA repair and DNA replication due to an inherited enzymatic defect in human DNA ligase I.

Content Provider	PubMed Central
Author	Prigent, C. Satoh, M. S. Daly, G. Barnes, D. E. Lindahl, T.
Abstract	Two missense mutations in different alleles of the DNA ligase I gene have been described in a patient (46BR) with immunodeficiencies and cellular hypersensitivity to DNA-damaging agents. One of the mutant alleles produces an inactive protein, while the other encodes an enzyme with some residual activity. A subline of identical phenotype that is homozygous (or hemizygous) for the mutant allele encoding this partially active enzyme has facilitated characterization of the enzymatic defect in 46BR. This subline retains only 3 to 5% of normal DNA ligase I activity. The intermediates in the ligation reaction, DNA ligase I-AMP and nicked DNA-AMP, accumulate in vitro and in vivo. The defect of the 46BR enzyme lies primarily in conversion of nicked DNA-AMP into the final ligated DNA product. Assays of DNA repair in 46BR cell extracts and of DNA replication in permeabilized cells have clarified functional roles of DNA ligase I. The initial rate of ligation of Okazaki fragments during DNA replication is apparently normal in 46BR cells, but 25 to 30% of the fragments remain in low-molecular-weight form for prolonged times. DNA base excision repair by 46BR cell extracts shows a delay in ligation and an anomalously long repair patch size that is reduced upon addition of purified normal DNA ligase I.
Starting Page	310
File Format	PDF
ISSN	10985549
e-ISSN	10985549
Journal	Molecular and Cellular Biology
Issue Number	1
Volume Number	14
Language	English
Publisher Date	1994-01-01
Access Restriction	Open
Subject Keyword	Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Cell Biology Molecular Biology

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