title: Deoxyribonucleoside triphosphate pool levels in three cell strains of human chromosome instability syndromes: ataxia telangiectasia (GM2052), Bloom's syndrome (GM1492), and Fanconi's anemia (GM368).
abstract: Deoxyribonucleoside triphosphate (dNTP) pool sizes were determined in cell strains derived from patients with the genetic diseases ataxia telangiectasia (GM2052), Bloom's syndrome (GM1492), and Fanconi's anemia (GM368), and were compared to the dNTP pools in a normal human fibroblast cell strain (253/79). In addition, the effect of deoxythymidine on both dNTP pool levels and cell growth was examined. The three mutant cell strains differed only slightly from the normal cell strain. The cellular characteristics of the cell strains, such as chromosome instability, are apparently not an effect of dNTP pool imbalance.
authors.affiliation: Department of Medical Cell Genetics, Karolinska Institutet, Stockholm, Sweden.
authors.forename: K
authors.initials: K
authors.lastname: Kenne
authors.forename: L
authors.initials: L
authors.lastname: Akerblom
mesh_terms: D000741:Anemia, Aplastic / Q000378:metabolism*; D001260:Ataxia Telangiectasia / Q000378:metabolism*; D001816:Bloom Syndrome / Q000378:metabolism*; D002455:Cell Division / Q000187:drug effects; D002460:Cell Line; D003470:Culture Media; D003854:Deoxyribonucleotides / Q000378:metabolism*; D005199:Fanconi Anemia / Q000378:metabolism*; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D009154:Mutation; D013936:Thymidine / Q000378:metabolism
chemical_list: D003470:Culture Media; D003854:Deoxyribonucleotides; D013936:Thymidine