title: A wild-type DNA ligase I gene is expressed in Bloom's syndrome cells.
abstract: 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 anomalously 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.
authors.affiliation: Division of Tumor Immunology, Dana-Farber Cancer Institute, Boston, MA.
authors.forename: J H
authors.initials: JH
authors.lastname: Petrini
authors.forename: K G
authors.initials: KG
authors.lastname: Huwiler
authors.forename: D T
authors.initials: DT
authors.lastname: Weaver
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D001816:Bloom Syndrome / Q000201:enzymology / Q000235:genetics*; D002460:Cell Line; D000072481:DNA Ligase ATP; D011088:DNA Ligases / Q000235:genetics*; D005347:Fibroblasts / Q000201:enzymology; D015870:Gene Expression; D005816:Genetic Complementation Test; D006801:Humans; D051379:Mice; D008969:Molecular Sequence Data; D015345:Oligonucleotide Probes; D016133:Polymerase Chain Reaction / Q000379:methods; D012016:Reference Values; D012441:Saccharomyces cerevisiae / Q000201:enzymology / Q000235:genetics; D012568:Schizosaccharomyces / Q000201:enzymology / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid
chemical_list: C000607892:LIG1 protein, human; D015345:Oligonucleotide Probes; D011088:DNA Ligases; D000072481:DNA Ligase ATP