ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes

Troelstra, Christine; Gool, Alain J. van; Wit, Jan de; Vermeulen, Wim; Bootsma, D.; Hoeijmakers, Jan H.J.

doi:10.1016/0092-8674(92)90390-x

Cited by 677 publications

(487 citation statements)

References 86 publications

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“…However, detailed literature on CSA is still relatively sparse. The CSB gene, which is located on chromosome 10q11, was cloned in 1990 and described in greater detail in 1992 (Troelstra et al, 1992a;Troelstra et al, 1992b). The severity of the disease does not seem to correlate with the site or nature of the CSB mutation, suggesting that the genetic background and/or environmental factors or downstream targets of a CSB protein-dependent regulation may be involved in determining the specific pathological phenotype of CS (Colella et al, 1999;Mallery et al, 1998).…”

Section: Mutations Causing Csmentioning

confidence: 99%

“…It contains several specific domains including an acidic domain, a glycine rich region and two putative nuclear localization signal (NLS) sequences. In addition, CSB is a member of the SWI2/SNF2-family of DNA dependent ATPases that contain seven characteristic ATPase motifs, which are also present in DNA and RNA helicases (Eisen et al, 1995;Troelstra et al, 1992b) (Figure 1). Like other members of this family, no activity has yet been demonstrated for CSB when using the conventional strand displacement assay (Pazin and Kadonaga, 1997;Selby and Sancar, 1997b).…”

Section: Biochemical Characteristics Of the Csb Proteinmentioning

confidence: 99%

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The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging

Stevnsner

Müftüoğlu

Aamann

et al. 2008

Mechanisms of Ageing and Development

126

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Cockayne Syndrome (CS) is a rare human genetic disorder characterized by progressive multisystem degeneration and segmental premature aging. The CS complementation group B (CSB) protein is engaged in transcription coupled and global nucleotide excision repair, base excision repair and general transcription. However, the precise molecular function of the CSB protein is still unclear. In the current review we discuss the involvement of CSB in some of these processes, with focus on the role of CSB in repair of oxidative damage, as deficiencies in the repair of these lesions may be an important aspect of the premature aging phenotype of CS.

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Section: Mutations Causing Csmentioning

confidence: 99%

Section: Biochemical Characteristics Of the Csb Proteinmentioning

confidence: 99%

The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging

Stevnsner

Müftüoğlu

Aamann

et al. 2008

Mechanisms of Ageing and Development

126

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“…[13][14][15][16][17] A tivity to ultraviolet (UV) rays, high predisposition for multiprotein complex of approximately 30 gene products developing skin cancers (basal and squamous cell carciis involved in the NER pathway, whereby DNA damage nomas and melanomas) on sunlight exposed areas, 1 and is eliminated and replaced by excision-resynthesis, as has in some cases, neurological disorders. [2][3][4] XP has a worldbeen demonstrated by using the in vitro repair assay with wide distribution, with the incidence varying from about purified factors.…”

Section: Introductionmentioning

confidence: 99%

Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C

et al. 1997

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With the aim to devise a long-term gene therapy protocol survival, unscheduled DNA synthesis and recovery of RNA for skin cancers in individuals affected by the inherited synthesis, and Western blots. The results show that the autosomal recessive xeroderma pigmentosum, we transrecombinant retroviruses are highly efficient vectors to ferred the human DNA repair XPA, XPB/ERCC3 and XPC transfer and stably express the human DNA repair genes cDNAs, by using the recombinant retroviral vector LXSN, in XP cells and correct the defect of DNA repair of group into primary and immortalized fibroblasts obtained from two A, B and C. With our previous results with XPD/ERCC2, XP-A, one XP-B (associated with Cockayne's syndrome) the present work extends further promising issues for the and two XP-C patients. After transduction, the complete gene therapy strategy for most patients suffering from this correction of DNA repair deficiency and functional cancer-prone syndrome. expression of the transgenes were monitored by UV

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“…Phosphorylation is believed to be a regulatory mechanism by which p53 becomes stabilized and activated for transcription (Hupp and Lane, 1994;Wang and Prives, 1995). Importantly, the product of the CS-B/ERCC6 gene, which functions in transcription-coupled strand-speci®c DNA repair (Troelstra et al, 1992), has also been found to associate with p53 . p53 also binds to RPA (Dutta et al, 1993), which is a single-stranded protein required for mammalian nucleotide excision repair (Coverley et al, 1991).…”

Section: Discussionmentioning

confidence: 99%

p53-mediated transcription induces resistance of DNA to UV inactivation

et al. 1998

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A possible role of p53-dependent transcription in the induction of DNA repair was explored by transfecting a UV-irradiated chloramphenicol acetyl transferase (CAT) reporter plasmid (pRGC.FOS.CAT), containing a minimal FOS promoter driven by a consensus p53 binding site, into a p53 negative-mouse cell line [(10)1]. When a p53-expressing plasmid (pSV.p53) was cotransfected into these cells, CAT expression levels persisted even after prolonged UV irradiation. In comparison, CAT expression from pSV2.CAT, which lacks a p53-responsive element in its SV40 promoter, dropped o much more precipitously after UV irradiation in the absence or presence of WT p53 expression. A similar sharp drop was observed with three other constructs when the reporter gene was under the control of the ras, b-actin or fos promoter. Mouse cells (A1-5) that constitutively express a temperature-sensitive mutant (135 AV) of mouse p53 also generated, at 328C, higher levels of enzyme expressed from UV-irradiated pRGC.FOS.CAT than from UV-irradiated pSV2.CAT. The frequency of cyclobutane pyrimidine dimers in UV-irradiated pRGC.FOS.CAT was determined with T4 endo V, and the probability of having an undamaged CAT coding strand was calculated by the Poisson distribution for various times of UV-irradiation. The observed relative CAT expression levels from irradiated pSV2.CAT and pRGC.FOS.CAT in the absence of p53 were consistent with those numbers. These results show that WT p53-mediated transcription directs a resistance of the transcribed DNA to UV inactivation and reactivates the reporter gene. Furthermore, some single point substitution mutants of p53 that maintain a near normal ability to activate transcription had lost their ability to extend CAT gene expression after UV irradiation. Conversely, other mutants with reduced transcriptional activity retained this ability. This indicates that although resistance to UV inactivation is transcriptionally-dependent, these two activities are genetically distinct. These data, taken together, suggest that the transcription of UV-damaged DNA by a p53-dependent process promotes its repair.

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ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes

Cited by 677 publications

References 86 publications

The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging

The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging

Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C

p53-mediated transcription induces resistance of DNA to UV inactivation

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