title: Structural alterations of DNA ligase I in Bloom syndrome.
abstract: Cell lines derived from seven patients with Bloom syndrome all contain a DNA ligase I with unusual properties. Six lines were shown to have a reduced level of this enzyme activity and the residual enzyme was anomalously heat-labile. The seventh line contained a dimeric rather than monomeric form of ligase I. Several cell lines representative of other inherited human syndromes have apparently normal DNA ligases. The data indicate that Bloom syndrome is due to a defect in the structure of DNA ligase I caused by a "leaky" point mutation occurring at one of at least two alternative sites.
mesh_terms: D001816:Bloom Syndrome / Q000201:enzymology* / Q000235:genetics; D002460:Cell Line; D000072481:DNA Ligase ATP; D011088:DNA Ligases / Q000172:deficiency / Q000235:genetics*; D005347:Fibroblasts / Q000201:enzymology; D006579:Heterozygote; D006801:Humans; D008214:Lymphocytes / Q000201:enzymology; D008780:Methyltransferases / Q000032:analysis; D019853:O(6)-Methylguanine-DNA Methyltransferase; D011118:Polynucleotide Ligases / Q000235:genetics*; D012854:Sister Chromatid Exchange
chemical_list: C000607892:LIG1 protein, human; D008780:Methyltransferases; D019853:O(6)-Methylguanine-DNA Methyltransferase; D011088:DNA Ligases; D011118:Polynucleotide Ligases; D000072481:DNA Ligase ATP