Differences in patterns of complementation of the more common groups of xeroderma pigmentosum: Possible implications

Giannelli, F.; Pawsey, S.A.; Avery, J

doi:10.1016/0092-8674(82)90161-1

Cited by 38 publications

(10 citation statements)

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“…The complementation between fused cells of XP groups A, C, and D and normal cells has been investigated extensively (9,10). These earlier results indicate that the factor that is deficient in group A cells is present in significant excess in (11,12).…”

Section: Discussionmentioning

confidence: 87%

“…Furthermore, the UV excision repair pathway of Escherichia coli is known to be inducible (17,18). It should be noted, however, that prior inhibition of protein synthesis does not decrease the level of repair synthesis in human cells (9,19). Alternatively, expression of mRNAs from XP-D and -F cells may be cell cycle dependent and hence can be prepared only at low concentrations from asynchronous cells while mRNAs from XP-A and -G cells are continuously expressed.…”

Section: Discussionmentioning

confidence: 99%

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Transient complementation of xeroderma pigmentosum cells by microinjection of poly(A)+ RNA.

Legerski¹,

Brown²,

Peterson³

et al. 1984

Proc. Natl. Acad. Sci. U.S.A.

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An assay has been developed in which excision repair deficiency of xeroderma pigmentosum cells is transiently complemented, as measured by unscheduled DNA synthesis, by microinjection of cytoplasmic poly(A)+ RNA derived from HeLa cells. Four different complementation groups of xeroderma pigmentosum have been assayed. Groups A and G showed complementation, whereas groups D and F did not. Survival for cells in each of the groups subsequent to microinjection was =75%. Approximately 10-25% of surviving cells from groups A and G were complemented, as judged by nearnormal unscheduled DNA synthesis. Fractionation of cytoplasnic poly(A)+ RNA on a 15-30% nondenaturing sucrose gradient and subsequent microinjection of the individual fractions indicate that repair mRNAs that complement xerbderma pigmentosum groups A and G sediment at approximately 11 S and 12 S, respectively. This assay should be of great utility in the cloning and biochemical analysis of DNA repair genes.Xeroderma pigmentosum (XP) is an autosomal, recessive disease of humans characterized by dermatological and ocular symptoms and a high predisposition to skin cancer after exposure to sunlight. Some forms of XP have associated neurological disorders (1) and possible immunological abnormalities. The primary biochemical defect in most XP cells is thought to be an inability to initiate excision repair synthesis of their DNA after exposure to UV irradiation (2, 3). Recently, the feasibility of transiently complementing mutant cell lines by direct microinjection of unenriched cytoplasmic poly(A)+ RNA has been demonstrated (4, 5). In this report, we show that microinjection of cytoplasmic poly(A)+ RNA derived from HeLa cells can transiently complement XP cells, as determined by a temporary increase in the level of unscheduled DNA synthesis (UDS). In addition, fractionation of poly(A)+ RNA on nondenaturing sucrose gradients and subsequent microinjection of the individual fractions indicated that the repair mRNAs that complement XP-A and -G cells sedimented at unique positions. MATERIALS AND METHODSCell Cultures. Fibroblast cell strains XP25RO (XP-A), XP3NE (XP-D), XP2YO (XP-F), and XP2BI (XP-G) were obtained from the Human Genetic Mutant Cell Repository. The cells were routinely grown in minimal essential medium (Flow Laboratories) containing 20% fetal calf serum (Irvine Scientific), penicillin G (100 units/ml), streptomycin (100 ,ug/ml), and glutamine (2 mM). HeLa S3 cells were grown in suspension culture containing minimal essential medium and 10% calf serum (Flow Laboratories).Isolation of Cytoplasmic Poly(A)+ RNA. The procedure for preparation of poly(A)+ RNA was a modification of the method described by Lin et al. (5). Approximately 5 x 109 cells were pelleted, washed twice with saline, and resuspended in 50 ml of ice-cold lysis buffer containing 30 mM Tris-HCl (pH 7.4), 30 mM KCI, 0.1 M NaCi, heparin (1 mg/ml), 0.15% Nonidet P-40, and 10 mM vanadyl ribonucleoside complex (Bethesda Research Laboratories). After 10 min on ice the sample was centrifuge...

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Section: Discussionmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Transient complementation of xeroderma pigmentosum cells by microinjection of poly(A)+ RNA.

Legerski¹,

Brown²,

Peterson³

et al. 1984

Proc. Natl. Acad. Sci. U.S.A.

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“…In fact, the product of theXP-A locus is present in excess in normal cells, turns over rapidly and seems to diffuse freely within the cell; the products of theXP-C and D loci are not in marked excess in the cell cytoplasm, do not readily diffuse out of the nucleus and turn over slowly; the product of theXP-D locus turns over more slowly than that of the XP-C locus. There are also suggestions of interactions between such gene products (Giannelli et al 1973(Giannelli et al , 1982cGiannelli & Pawsey, 1976). Some of the above conclusions have been confirmed recently by the microinjection of protein or mRNA fractions into XP cells, which was performed to develop biological assays for the products of the XP loci (De Jonge et al 1983;Legerski et al 1984).…”

Section: Xeroderma Pigmentosum (Xp)mentioning

confidence: 99%

DNA Maintenance and its Relation to Human Pathology

Giannelli

1986

Journal of Cell Science

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“…Cells from most xeroderma pigmentosum patients are hypersensitive to the lethal and mutagenic effects of ultraviolet (UV) radiation and are deficient in the ability to repair UV-induced DNA damage (3)(4)(5)(6). Base substitution mutations in somatic cells have been shown to be capable of activating certain proto-oncogenes (7).…”

Section: Introductionmentioning

confidence: 99%

“…Each complementation group generally has a characteristic rate of residual DNA repair (3)(4)(5) and kinetics of complementation (6), implying that they carry mutations at different loci. All are believed to involve defects in the first Dr (incision) step of excision repair but in none are the molecular details understood.…”

Section: Introductionmentioning

confidence: 99%

Abnormal ultraviolet mutagenic spectrum in plasmid DNA replicated in cultured fibroblasts from a patient with the skin cancer-prone disease, xeroderma pigmentosum.

Seetharam¹,

Protić-Sabljić²,

Seidman³

et al. 1987

J. Clin. Invest.

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A shuttle vector plasmid, pZ189, was utilized to assess the types of mutations that cells from a patient with xeroderma pigmentosum, complementation group D, introduce into ultraviolet (UV) damaged, replicating DNA. Patients with xeroderma pigmentosum have clinical and cellular UV hypersensitivity, increased frequency of sun-induced skin cancer, and deficient DNA repair. In comparison to UV-treated pZ189 replicated in DNA repair-proficient cells, there were fewer surviving plasmids, a higher frequency of plasmids with muta-

show abstract

Differences in patterns of complementation of the more common groups of xeroderma pigmentosum: Possible implications

Cited by 38 publications

References 9 publications

Transient complementation of xeroderma pigmentosum cells by microinjection of poly(A)+ RNA.

Transient complementation of xeroderma pigmentosum cells by microinjection of poly(A)+ RNA.

DNA Maintenance and its Relation to Human Pathology

Abnormal ultraviolet mutagenic spectrum in plasmid DNA replicated in cultured fibroblasts from a patient with the skin cancer-prone disease, xeroderma pigmentosum.

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