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A Wild-Type DNA Ligase I Gene is Expressed in Bloom's Syndrome Cells

PETRINI, J. H. J ; HUWILER, K. G ; WEAVER, D. T

Proceedings of the National Academy of Sciences - PNAS, 1991-09, Vol.88 (17), p.7615-7619 [Periódico revisado por pares]

Washington, DC: National Academy of Sciences of the United States of America

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Título:
A Wild-Type DNA Ligase I Gene is Expressed in Bloom's Syndrome Cells
Autor: PETRINI, J. H. J ; HUWILER, K. G ; WEAVER, D. T
Assuntos: 550200 - Biochemistry ; Amino Acid Sequence ; ANIMAL CELLS ; Animals ; Base Sequence ; BASIC BIOLOGICAL SCIENCES ; BETA DECAY RADIOISOTOPES ; BETA-MINUS DECAY RADIOISOTOPES ; Biological and medical sciences ; Bloom Syndrome - enzymology ; Bloom Syndrome - genetics ; Bloom's syndrome ; Cell Line ; CHROMOSOMAL ABERRATIONS ; CHROMOSOME BREAKAGE ; Chromosome fragility (bloom syndrome, ataxia telangiectasia, fanconi anemia, x-linked mental retardation...) ; CONNECTIVE TISSUE CELLS ; DAYS LIVING RADIOISOTOPES ; DISEASES ; DNA ; DNA Ligase ATP ; DNA Ligases - genetics ; DNA POLYMERASES ; DNA SEQUENCING ; ENZYME ACTIVITY ; ENZYMES ; FIBROBLASTS ; Fibroblasts - enzymology ; Gene Expression ; GENE MUTATIONS ; Genetic Complementation Test ; HEREDITARY DISEASES ; Humans ; ISOTOPES ; LIGASES ; LIGHT NUCLEI ; Medical genetics ; Medical sciences ; Mice ; MOLECULAR BIOLOGY ; Molecular Sequence Data ; MUTATIONS ; NUCLEI ; NUCLEIC ACIDS ; NUCLEOTIDYLTRANSFERASES ; ODD-ODD NUCLEI ; Oligonucleotide Probes ; OLIGONUCLEOTIDES ; ORGANIC COMPOUNDS ; PHOSPHORUS 32 ; PHOSPHORUS ISOTOPES ; PHOSPHORUS-GROUP TRANSFERASES ; Polymerase Chain Reaction - methods ; POLYMERASES ; PROTEINS ; RADIOISOTOPES ; RECOMBINANT DNA ; Reference Values ; Saccharomyces cerevisiae - enzymology ; Saccharomyces cerevisiae - genetics ; Schizosaccharomyces - enzymology ; Schizosaccharomyces - genetics ; Sequence Homology, Nucleic Acid ; SOMATIC CELLS ; STRUCTURAL CHEMICAL ANALYSIS ; TRANSFERASES
É parte de: Proceedings of the National Academy of Sciences - PNAS, 1991-09, Vol.88 (17), p.7615-7619
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Descrição: Alteration of DNA ligase I activity is a consistent biochemical feature of Bloom's syndrome (BS) cells. DNA ligase I activity in BS cells either is reduced and abnormally thermolabile or is present in an anamolously dimeric form. To assess the role of DNA ligase function in the etiology of BS, we have cloned the DNA ligase I cDNA from normal human cells by a PCR strategy using degenerate oligonucleotide primers based on conserved regions of the Saccharomyces cerevisiae and Schizosaccharomyces pombe DNA ligase genes. Human DNA ligase I cDNAs from normal and BS cells complemented a S. cerevisiae DNA ligase mutation, and protein extracts prepared from S. cerevisiae transformants expressing normal and BS cDNA contained comparable levels of DNA ligase I activity. DNA sequencing and Northern blot analysis of DNA ligase I expression in two BS human fibroblast lines representing each of the two aberrant DNA ligase I molecular phenotypes demonstrated that this gene was unchanged in BS cells. Thus, another factor may be responsible for the observed reduction in DNA ligase I activity associated with this chromosomal breakage syndrome.
Editor: Washington, DC: National Academy of Sciences of the United States of America
Idioma: Latim;Inglês

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A Wild-Type DNA Ligase I Gene is Expressed in Bloom's Syndrome Cells

PETRINI, J. H. J ; HUWILER, K. G ; WEAVER, D. T

Washington, DC: National Academy of Sciences of the United States of America

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