title: Somatic cell mutation frequency at the HPRT, T-cell antigen receptor and glycophorin A loci in Cockayne syndrome.
abstract: Skin fibroblasts of patients with Cockayne syndrome (CS) are hypersensitive to the lethal or mutagenic effect of ultraviolet light, which may cause genetic instability. Up to now, however, no systematic study of in vivo somatic cell mutation in CS cells has been reported. This article describes our investigation of the mutation frequencies (Mfs) at three different loci, i.e. hypoxanthine-guanine phosphoribosyl transferase (HPRT), T-cell antigen receptor (TCR) and glycophorin A (GPA), in six patients with CS. Mfs at the HPRT and TCR loci were found to be within the normal range as determined in age-matched controls. In the GPA locus of two patients, there was a slight increase, but it was much smaller than that reported in other DNA repair deficient syndromes. The frequency of spontaneous HPRT mutation in Epstein-Barr virus transformed B-lymphoblastoid cells derived from CS patients was similar to that in cells from normal children. The molecular characterization of the representative HPRT mutant T cell clones from CS patients did not show any structural alterations. These results may explain, at least in part, why CS is not associated with predisposition to cancer.
authors.affiliation: Department of Pediatrics, School of Medicine, Kyoto University, Japan.
authors.forename: Y W
authors.initials: YW
authors.lastname: Lin
authors.forename: M
authors.initials: M
authors.lastname: Kubota
authors.forename: H
authors.initials: H
authors.lastname: Hirota
authors.forename: K
authors.initials: K
authors.lastname: Furusho
authors.forename: K
authors.initials: K
authors.lastname: Tomiwa
authors.forename: J
authors.initials: J
authors.lastname: Ochi
authors.forename: Y
authors.initials: Y
authors.lastname: Kasahara
authors.forename: H
authors.initials: H
authors.lastname: Sasaki
authors.forename: S
authors.initials: S
authors.lastname: Ohta
mesh_terms: D000293:Adolescent; D001402:B-Lymphocytes; D002461:Cell Line, Transformed; D002648:Child; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000235:genetics*; D004260:DNA Repair; D005260:Female; D005787:Gene Frequency; D006021:Glycophorins / Q000235:genetics*; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics*; D008297:Male; D009154:Mutation; D011948:Receptors, Antigen, T-Cell / Q000235:genetics*; D012044:Regression Analysis; D018709:Statistics, Nonparametric; D014466:Ultraviolet Rays
chemical_list: D006021:Glycophorins; D011948:Receptors, Antigen, T-Cell; D007041:Hypoxanthine Phosphoribosyltransferase