Further studies on compartmentalisation of DNA-topoisomerase I in Fanconi anemia tissue.

Previously we found increased DNA-topoisomerase I activity in the cytoplasmic fraction of a mature placenta from a child homozygously affected with Fanconi anemia (FA). Now determination of this enzyme was extended to one heterozygous and four homozygous FA fibroblast cultures in confluent stage, and one mature and one immature placenta from homozygously affected children. In all these cases enzyme activity was found in the cytoplasmic fraction in the range between 0.2 and 1.3 U/micrograms protein. For comparison six normal fibroblast cultures, five normal mature and two immature placentae were studied. The cytoplasmic fractions from all but one fibroblast culture, which showed trace activity, showed no detectable activity. The normal mature placentae had no measurable cytoplasmic activity, while the immature trisomy 18 placentae contained 0.1 and 0.27 U/microgram protein. In a homozygous FA fibroblast culture the total cellular distribution was determined; the cytoplasmic fraction contained 6.5% of the whole cellular activity.