title: Assessment of microsatellite instability in a cell line from a patient with xeroderma pigmentosum variant.
abstract: Cells from patients with xeroderma pigmentosum (XP) variant are thought to be defective in postreplication repair. This DNA repair pathway is not well defined in human cells and the exact genetic defect of XP variant is unknown. In another cancer-prone hereditary disorder, hereditary nonpolyposis colon cancer, tumors are characterized by a DNA mismatch repair defect with microsatellite instability. Since there are some similarities between postreplication repair and mismatch repair, we investigated microsatellite instability, the hallmark of a DNA mismatch repair defect, in a lymphoblastoid cell line from a patient with XP variant. Two normal lines and one nucleotide excision repair-defective XP group A line were used as controls. In a host cell microsatellite instability assay, the recently developed shuttle vector pZCA29 was transfected into these cells and replicated plasmid recovered after 3 days. The plasmid contains two CA repeat tracts that interrupt the reading frame of the lacZ gene. Reversion to active beta-galactosidase, detectable by a color reaction of bacterial transformants, represents the frequency of frameshift mutations in the CA repeat tracts during replication of the plasmid, and thereby the host cells' microsatellite instability. We did not find any significant differences in the mutation frequencies of the plasmids after passage through either cell line. This indicates that there is no microsatellite instability in the examined XP variant cell line.
authors.affiliation: Department of Dermatology, Georg-August University of Göttingen, Germany.
authors.forename: T Y
authors.initials: TY
authors.lastname: Tzung
authors.forename: C
authors.initials: C
authors.lastname: Diem
authors.forename: T M
authors.initials: TM
authors.lastname: Rünger
mesh_terms: D002460:Cell Line; D004260:DNA Repair / Q000235:genetics; D004926:Escherichia coli / Q000235:genetics; D014644:Genetic Variation; D006801:Humans; D018895:Microsatellite Repeats; D009154:Mutation; D010957:Plasmids / Q000235:genetics; D014983:Xeroderma Pigmentosum / Q000235:genetics*