Genetic Heterogeneity of Xeroderma Pigmentosum demonstrated by Somatic Cell Hybridization

Weerd-Kastelein, E.A. de; Keijzer, W.; Bootsma, D.

doi:10.1038/newbio238080a0

Cited by 264 publications

(84 citation statements)

References 14 publications

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“…One of the phenotypic characteristics of these groups is a difference in their levels of UV-induced unscheduled DNA synthesis; the levels increased in the order A < B < C < D < E < variant = normal (1)(2)(3)(4)(5). XP variant is thought to have an abnormality in post-replication repair (20)(21)(22).…”

Section: Discussionmentioning

confidence: 99%

“…Inability of excision repair of UV-damaged DNA in XP cells could be measured autoradiographically, since levels of unscheduled DNA synthesis are lower than those in normal cells (1,2). deWeerd-Kastelein et al (3) reported that cells of classical XP patients and deSanctis-Cacchione patients were genetically complementary. Both types of cells showed low levels of unscheduled DNA synthesis, but when they were fused by HVJ (Sendai virus) the levels became normal.…”

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confidence: 99%

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Restoration of ultraviolet-induced unscheduled DNA synthesis of xeroderma pigmentosum cells by the concomitant treatment with bacteriophage T4 endonuclease V and HVJ (Sendai virus).

Tanaka¹,

Sekiguchi²,

Okada³

1975

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

185

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Ultraviolet (UV)induced unscheduled DNA synthesis of xeroderma pigmentosum cells, belonging to complementation groups A, B, C, D, and E, was restored to the normal level by concomitant treatment of the cells with T4 endonuclease V and UV-inactivated HVJ (Sendai virus). The present results suggest that (1) T4 endonuclease molecules were inserted effectively into the cells by the interaction of HVJ with the cell membranes, (I) the enzyme was functional on human chromosomal DNA which had been damaged by UV irradiation in the viable cells, (3) all the studied groups of xeroderma pigmentosum ("variant" was not tested) were defective in the first step (incision) of excision repair. (5) suggested that XP cells fail to start the excision process because they lack the required function of an UV-specific endonuclease. Paterson et al. (6) and Buhl and Regan (7) reported that an UV-specific endonuclease from Micrococcus luteus was effective for introducing single-strand breaks in UV-damaged DNA of XP cells (both classical and deSanctis-Cacchione). On the contrary, Cleaver (8) observed that after UV-irradiation strand breaks accumulated in DNA of XP cells (deSanctis-Cacchione). All these experiments (5-8) were carried out using an alkaline-sucrose gradient centrifugation technique in vitro to estimate the degree of strand breaks of UV-irradiated DNA.We planned to identify autoradiographically what kind of cells in the five complementation groups was defective in the enzyme for strand breaks of UV-damaged DNA, by insertion of an UV-specific endonuclease into viable XP cells. HVJ is well known to have cell fusion activity (9). At an early stage of the cell fusion reaction, the structure of the Abbreviations: HVJ, hemagglutirating virus of Japan, synonym: Sendai virus; XP, xeroderma pigmentosum; UV, ultraviolet; PEME, phosphate-ethylene glycol-mercaptoethanol-EDTA buffer; ENase, endonuclease V. * To whom all correspondence should be addressed. 4071cell membrane is partially damaged by the action of the virus and then the structure is restored again. Thus, it seemed possible that macromolecules could be inserted into viable cells from the outside during the interaction between the cell membrane and HVJ. As an enzyme, T4 endonuclease V was used, which was isolated from Escherichia coli infected with bacteriophage T4 (10,11). This enzyme catalyzes the first step of excision repair in T4-infected cells (12). We tried to insert this enzyme into XP cells with help of HVJ, and this trial was successful. MATERIALS AND METHODSCells. Human fibroblasts derived from biopsy specimens of skin of normal subjects and XP patients were grown as monolayers in Eagle's minimum essential medium (MEM) supplemented with 10% fetal calf serum (Flow Lab.). Strain HNSF3 was derived from normal skin. Strains XP80S, XP1OOS, and XP6TOO were from Japanese XP patients and have been classified in complementation group A §. Strain CRL 1228, 1199, 1170, 1160, and 1259, belonging to the complementation groups A, B, C, D, and E, respectively, were obtain...

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Restoration of ultraviolet-induced unscheduled DNA synthesis of xeroderma pigmentosum cells by the concomitant treatment with bacteriophage T4 endonuclease V and HVJ (Sendai virus).

Tanaka¹,

Sekiguchi²,

Okada³

1975

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

185

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“…Auden). Table 1 Representative examples of the contributions of D. Bootsma to the development of understanding of nucleotide excision repair Xeroderma pigmentosum and ataxia telangiectasia complementation groups [77][78][79] Chromosomal stability and NER [80] The molecular defect in the XP variant [81] Cloning of NER genes [82][83][84][85] Functional characteristics of NER genes [86][87][88] DNA repair and circadian rhythms [89] Mouse models of NER disorders [90][91][92] contributions to the identification of multiple complementation groups in NER, cloning of many of the genes involved and developing mouse models (Table 1). His contributions and those of his colleagues in the Netherlands, led to a light-hearted description of them at a 1993 Congress in Denmark as the "Dutch Army".…”

Section: Introductionmentioning

confidence: 99%

Nucleotide excision repair “a legacy of creativity”

Cleaver

Karplus

Kashani‐Sabet

et al. 2001

Mutation Research/DNA Repair

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The first half of the 20th century has seen an enormous growth in our knowledge of DNA repair, in no small part due to the work of Dirk Bootsma, Philip Hanawalt and Bryn Bridges; those honored by this issue. For the new millennium, we have asked three general questions: (A) Do we know all possible strategies of nucleotide excision repair (NER) in all organisms? (B) How is NER integrated and regulated in cells and tissues? (C) Does DNA replication represent a new frontier in the roles of DNA repair? We make some suggestions for the kinds of answers the next generation may provide. The kingdom of archea represents an untapped field for investigation of DNA repair in organisms with extreme lifestyles. NER appears to involve a similar strategy to the other kingdoms of prokaryotes and eukaryotes, but subtle differences suggest that individual components of the system may differ. NER appears to be regulated by several major factors, especially p53 and Rb which interact with transcription coupled repair and global genomic repair, respectively. Examples can be found of major regulatory changes in repair in testicular tissue and melanoma cells. Our understanding of replication of damaged DNA has undergone a revolution in recent years, with the discovery of multiple low-fidelity DNA polymerases that facilitate replicative bypass. A secondary mechanism of replication in the absence of NER or of one or more of these polymerases involves sister chromatid exchange and recombination (hMre11/hRad50/Nbs1). The relative importance of bypass and recombination is determined by the action of p53. We hypothesise that these polymerases may be involved in resolution of complex DNA structures during completion of replication and sister chromatid resolution. With these fascinating problems to investigate, the field of DNA repair will surely not disappoint the next generation.

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“…This disease is also characterized by neurological complications. Seven different complementation groups (A to G) in XP have been identified by complementation analyses using a cell fusion technique (de Weerd-Kastelein et al 1972;Hoejimakers et al 1990), while 11 different complementation groups (1-11) in excision repair crosscomplementing (ERCC) were found in UV-sensitive, nucleotide excision repair-defective, mutant rodent cell lines (Troelstra et al 1992). To date, the A, B, C, D and G groups of XP genes (XPA XPG genes) and the ERCC1, ERCC2, ERCC3, ERCC5 and ERCC6 genes have been cloned.…”

Section: Introductionmentioning

confidence: 99%

Implications of the zinc‐finger motif found in the DNA‐binding domain of the human XPA protein

et al. 1996

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Background: The XPA (xeroderma pigmentosum group A) protein specifically recognizes the UV-or chemically damaged DNA lesions, and triggers the nucleotide excision repair process. This XPA protein contains the functional domain which is crucial to the recognition of damaged DNA. Its primary structure suggests that this DNA binding domain may contain a zinc-finger motif. To gain a more detailed insight into this zinc-finger motif, we have measured the 113 Cd-NMR spectra of the DNA binding domains derived from the wild-type and mutant XPA proteins.

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Genetic Heterogeneity of Xeroderma Pigmentosum demonstrated by Somatic Cell Hybridization

Cited by 264 publications

References 14 publications

Restoration of ultraviolet-induced unscheduled DNA synthesis of xeroderma pigmentosum cells by the concomitant treatment with bacteriophage T4 endonuclease V and HVJ (Sendai virus).

Restoration of ultraviolet-induced unscheduled DNA synthesis of xeroderma pigmentosum cells by the concomitant treatment with bacteriophage T4 endonuclease V and HVJ (Sendai virus).

Nucleotide excision repair “a legacy of creativity”

Implications of the zinc‐finger motif found in the DNA‐binding domain of the human XPA protein

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