Hum Genet. 1978 Nov 24;45(1):25-32.

Deficiency of DNA ligase activity in Fanconi's anemia.

Hirsch-Kauffmann M, Schweiger M, Wagner EF, Sperling K.

Abstract

A significant decrease in DNA ligase activity was observed in lymphocytes and fibroblasts of a patient with Fanconi's anemia (FA). This decrease is related to the observed DNA repair deficiency indicated by the delayed closing of repair DNA strands following UV irradiation. Other steps of DNA repair were analyzed in the FA fibroblasts, including endonucleolytic incision of DNA, repair DNA synthesis, and exonucleolytic removal of the photoproducts. No differences were found against control cells. The action of DNA ligase is delayed during replication in the FA cells, as seen by an accumulation of replicative intermediates.

PMID:: 730179; [PubMed - indexed for MEDLINE]

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Deficiency of DNA ligase activity in Fanconi's anemia.

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