Five complementation groups in xeroderma pigmentosum

Kraemer, Kenneth H.; Weerd-Kastelein, E.A. de; Robbins, Jay H.; Keijzer, W.; Barrett, Susanna F.; Petinga, Robert A.; Bootsma, D.

doi:10.1016/0027-5107(75)90208-0

Cited by 182 publications

(47 citation statements)

References 9 publications

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“…At any rate, it would be of interest to extend the studies of the glycosidase to cells derived from individuals with other "repair-deficiency" diseases. However, such an extension might be premature until the complementation analyses for these diseases reach the same levels of sophistication as those obtained for XP (8).…”

Section: Discussionmentioning

confidence: 99%

“…XP and AT patients have a high risk of developing cancer and their cultured cells are deficient in repair of DNA lesions caused by UV irradiation (XP) or X-rays (AT) (9,10). The UV excision repair deficiency in the case of XP falls into at least five genetic complementation groups (8), and, in addition, another "variant" form exists in which subjects have the clinical symptoms of XP, but cultured fibroblasts have normal excision repair. The latter cells are thought to be deficient in post-replication repair (11).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Human uracil DNA N-glycosidase: studies in normal and repair defective cultured fibroblasts

Kühnlein¹,

Lee²,

Linn³

1978

Nucl Acids Res

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Uracil DNA N-glycosidase, an enzyme which participates in the excision of uracil from DNA, was measured in extracts from fibroblast lines cultured from normal subjects, from several subjects with the genetic disease xeroderma pigmentosum, and from a subject with ataxia telangiectasia. The cell lines representative of compl ementati on groups A and D of xeroderma pigmentosum and of ataxia telangiectasia had roughly the same level of activity as did the normal cells. On the other hand, cells from two xeroderma pigmentosum variants (XP4BE and XP13BE) had roughly half the normal level of activity, and cells from the heterozygous mother of XP4BE had an intermediate level of activity. In spite of these quantitative differences, no systematic alterations in reaction characteristics, apparent Km for substrate, or purification characteristics were noted for enzyme from any of the lines. Thus a causal relationship, if any, between levels of activity and the disease symptoms is equivocal. INTRODUCTIONUrazil residues apparently can be introduced into DNA by two mechanisms: the spontaneous deamination of DNA-cytosine, or the incorporation of deoxyuridylate from dUTP in place of thymidylate during DNA synthesis. The deamination of cytosine can occur under physiological conditions (1,2) and would, of course, require correction in order to eliminate a resulting transition mutation. The incorporation of deoxyuridylate from dUTP might occur at a high frequency, but experimental evidence is indirect. First, dUTP is efficiently incorporated into DNA by DNA polymerase in vitro (3);

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Human uracil DNA N-glycosidase: studies in normal and repair defective cultured fibroblasts

Kühnlein¹,

Lee²,

Linn³

1978

Nucl Acids Res

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“…), which catalyzes incision on the 3' side of AP sites in damaged DNA (Demple and Linn 1980;Kim and Linn 1988). AP endonuclease I has been defined as one of seven complementation groups for xeroderma pigmentosum, a disease characterized by hypersensitivity to UV irradiation (Kraemer et al 1975;Kuhnlein et al 1976).…”

Section: The Gene For U15a Snrna Resides Within the Gene For An Unusumentioning

confidence: 99%

A small nucleolar RNA is processed from an intron of the human gene encoding ribosomal protein S3.

Tycowski¹,

Shu²,

Steitz³

1993

Genes & Development

181

146

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A human small nucleolar RNA, identified previously in HeLa cells by anti-fibrillarin autoantibody precipitation and termed RNA X, has been characterized. It comprises two uridine-rich variants (148 and 146 nucleotides}, which we refer to as snRNA U15A and U15B. Secondary structure models predict for both variants a U15-specific stem-loop structure, as well as a new structural motif that contains conserved sequences and can also be recognized in the other fibrillarin-associated nucleolar snRNAs, U3, U14, and RNA Y. The single-copy gene for human U15A has been found unexpectedly to reside in intron 1 of the ribosomal protein $3 gene; the U15A sequence appears on the same strand as the $3 mRNA and does not exhibit canonical transcription signals for nuclear RNA polymerases. U15A RNA is processed in vitro from $3 intron 1 transcripts to yield the correct 5' end with a 5'-monophosphate; the in vitro system requires ATP for 3' cleavage, which occurs a few nucleotides downstream of the mature end. The production of a single primary transcript specifying the mRNA for a ribosomal or nucleolar protein and a nucleolar snRNA may constitute a general mechanism for balancing the levels of nucleolar components in vertebrate cells.

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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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Five complementation groups in xeroderma pigmentosum

Cited by 182 publications

References 9 publications

Human uracil DNA N-glycosidase: studies in normal and repair defective cultured fibroblasts

Human uracil DNA N-glycosidase: studies in normal and repair defective cultured fibroblasts

A small nucleolar RNA is processed from an intron of the human gene encoding ribosomal protein S3.

Nucleotide excision repair “a legacy of creativity”

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