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Author Guillouf, C. ♦ Moustacchi, E. ♦ Mohrenweiser, H.
Source United States Department of Energy Office of Scientific and Technical Information
Content type Text
Language English
Subject Keyword BASIC BIOLOGICAL SCIENCES ♦ HEREDITARY DISEASES ♦ DNA REPAIR ♦ HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE ♦ GENE MUTATIONS ♦ ANEMIAS ♦ DNA ADDUCTS ♦ DNA HYBRIDIZATION ♦ LYMPHOCYTES ♦ MAN ♦ MUTATION FREQUENCY ♦ PHOSPHORUS 32 ♦ PSORALEN ♦ ADDUCTS ♦ ANIMAL CELLS ♦ ANIMALS ♦ ANTICOAGULANTS ♦ BETA DECAY RADIOISOTOPES ♦ BETA-MINUS DECAY RADIOISOTOPES ♦ BIOLOGICAL MATERIALS ♦ BIOLOGICAL RECOVERY ♦ BIOLOGICAL REPAIR ♦ BLOOD ♦ BLOOD CELLS ♦ BODY FLUIDS ♦ CONNECTIVE TISSUE CELLS ♦ COUMARINS ♦ DAYS LIVING RADIOISOTOPES ♦ DISEASES ♦ DRUGS ♦ ENZYMES ♦ GLYCOSYL TRANSFERASES ♦ HEMATOLOGIC AGENTS ♦ HEMIC DISEASES ♦ HETEROCYCLIC COMPOUNDS ♦ HYBRIDIZATION ♦ ISOTOPES ♦ LEUKOCYTES ♦ LIGHT NUCLEI ♦ MAMMALS ♦ MATERIALS ♦ MUTATIONS ♦ NUCLEI ♦ ODD-ODD NUCLEI ♦ ORGANIC COMPOUNDS ♦ ORGANIC OXYGEN COMPOUNDS ♦ PENTOSYL TRANSFERASES ♦ PHOSPHORUS ISOTOPES ♦ PRIMATES ♦ PROTEINS ♦ RADIOISOTOPES ♦ RECOVERY ♦ REPAIR ♦ SOMATIC CELLS ♦ SYMPTOMS ♦ TRANSFERASES ♦ VERTEBRATES ♦ Biochemistry- Tracer Techniques
Abstract Fanconi anemia (FA) is an inherited human disorder associated with a predisposition to cancer and characterized by anomalies in the processing of DNA cross-links and certain monoadducts. The authors reported previously that the frequency of psoralen-photoinduced mutations at the HPRT locus is lower in FA cells than in normal cells. This hypomutability is shown here to be associated with an increased frequency of deletions in the HPRT gene when either a mixture of cross-links and monoadducts or monoadducts alone are induced. Molecular analysis of mutants in the HPRT gene was carried out. In normal cells the majority of spontaneous and induced mutants are point mutations whereas in FA deletion mutations predominate. In that case a majority of mutants were found to lack individual exons or small clusters of exons whereas in normal cells large (complete or major gene loss) and small deletions are almost equally represented. Thus they propose that the FA defect lies in a mutagenic pathway that, in normal cells, involves by passing lesions and subsequent gap filling by a recombinational process during replication.
ISSN 00278424
Educational Use Research
Learning Resource Type Article
Publisher Date 1990-11-01
Publisher Place United States
Volume Number 87
Issue Number 21


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