Molecular cloning of the human DNA excision repair gene ERCC-6.

Troelstra, Christine; Odijk, Hanny; Wit, Jan de; Westerveld, A.; Thompson, Lawrence H.; Bootsma, D.; Hoeijmakers, Jan H.J.

doi:10.1128/mcb.10.11.5806

Cited by 114 publications

(56 citation statements)

References 42 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…p53 also binds to Cockayne syndrome B protein (CSB), which was identi®ed as a repair protein by phenotypic complementation of an excision repairde®cient rodent cell line (Troelstra et al, 1990). The encoded protein is functionally defect in human Cockayne syndrome type B, the most common form of this disease.…”

Section: Association Of P53 With Components Of Repair Pathwaysmentioning

confidence: 99%

Maintenance of genomic integrity by p53: complementary roles for activated and non-activated p53

Albrechtsen

Dornreiter

Grosse³

et al. 1999

Oncogene

167

121

View full text Add to dashboard Cite

Section: Association Of P53 With Components Of Repair Pathwaysmentioning

confidence: 99%

Maintenance of genomic integrity by p53: complementary roles for activated and non-activated p53

Albrechtsen

Dornreiter

Grosse³

et al. 1999

Oncogene

167

121

View full text Add to dashboard Cite

“…These results demonstrate that 8-OH-dAdo accumulates in a dose-dependent manner in irradiated mutant cells but does not accumulate in irradiated wild type cells. CSB is highly homologous to proteins of the SWI/SNF2 family (2,3,31). SWI/SNF proteins participate in a wide variety of cellular functions including DNA repair, regulation of transcription, maintenance of chromosome stability, and chromatin remodeling (5,(31)(32)(33).…”

Section: Fig 2 Structure Of Csb and The Location Of Designed Mutantsmentioning

confidence: 99%

“…There are two complementation groups of CS, CS-A and CS-B. The CSB gene (CSB) encodes the CSB protein (CSB) with 1493 amino acids and a molecular mass of 168 kDa (2,3). An important clinical feature of CS-B is accelerated aging.…”

mentioning

confidence: 99%

The Cockayne Syndrome Group B Gene Product Is Involved in Cellular Repair of 8-Hydroxyadenine in DNA

Tuo¹,

Jaruga²,

Rodriguez³

et al. 2002

Journal of Biological Chemistry

View full text Add to dashboard Cite

Cockayne syndrome (CS) is a human disease characterized by sensitivity to sunlight, severe neurological abnormalities, and accelerated aging. CS has two complementation groups, CS-A and CS-B. The CSB gene encodes the CSB protein with 1493 amino acids. We previously reported that the CSB protein is involved in cellular repair of 8-hydroxyguanine, an abundant lesion in oxidatively damaged DNA and that the putative helicase motif V/VI of the CSB may play a role in this process. The present study investigated the role of the CSB protein in cellular repair of 8-hydroxyadenine (8-OHAde), another abundant lesion in oxidatively damaged DNA. Extracts of CS-B-null cells and mutant cells with site-directed mutation in the motif VI of the putative helicase domain incised 8-hydroxyadenine in vitro less efficiently than wild type cells. Furthermore, CS-B-null and motif VI mutant cells accumulated more 8-hydroxyadenine in their genomic DNA than wild type cells after exposure to ␥-radiation at doses of 2 or 5 Gy. These results suggest that the CSB protein contributes to cellular repair of 8-OH-Ade and that the motif VI of the putative helicase domain of CSB is required for this activity.

show abstract

“…Hence, the hamster CS-B cells are very useful for assessing the functions of CSB gene. Furthermore, the human CSB gene, identi®ed by cross complementation of the hamster UV61 cells, complements the UV sensitivity and RNA synthesis inhibition in the SV40 immortalized human CS-B cell line CSIAN.S3.G2 (Troelstra et al, 1990).…”

Section: Introductionmentioning

confidence: 99%

Role of the ATPase domain of the Cockayne syndrome group B protein in UV induced apoptosis

Proietti-De-Santis

et al. 2000

Oncogene

View full text Add to dashboard Cite

Cockayne syndrome (CS) is a human autosomal recessive disorder characterized by many neurological and developmental abnormalities. CS cells are defective in the transcription coupled repair (TCR) pathway that removes DNA damage from the transcribed strand of active genes. The individuals su ering from CS do not generally develop cancer but show increased neurodegeneration. Two genetic complementation groups (CS-A and CS-B) have been identi®ed. The lack of cancer formation in CS may be due to selective elimination of cells containing DNA damage by a suicidal pathway. In this study, we have evaluated the role of the CSB gene in UV induced apoptosis in human and hamster cells. The hamster cell line UV61 carries a mutation in the homolog of the human CSB gene. We show that both human CS-B and hamster UV61 cells display increased apoptotic response following UV exposure compared with normal cells. The increased sensitivity of UV61 cells to apoptosis is complemented by the transfection of the wild type human CSB gene. In order to determine which functional domain of the CSB gene participates in the apoptotic pathway, we constructed stable cell lines with di erent CSB domain disruptions. UV61 cells were stably transfected with the human CSB cDNA containing a point mutation in the highly conserved glutamic acid residue in ATPase motif II. This cell line (UV61/ pc3.1-CSBE646Q) showed the same increased apoptosis as the UV61 cells. In contrast, cells containing a deletion in the acidic domain at the N-terminal end of the CSB protein had no e ect on apoptosis. This indicates that the integrity of the ATPase domain of CSB protein is critical for preventing the UV induced apoptotic pathway. In primary human CS-B cells, the induction and stabilization of the p53 protein seems to correlate with their increased apoptotic potential. In contrast, no change in the level of either p53 or activation of mdm2 protein by p53 was observed in hamster UV61 cells after UV exposure. This suggests that the CSB dependent apoptotic pathway can occur independently of the transactivation potential of p53 in hamster cells.

show abstract

Molecular cloning of the human DNA excision repair gene ERCC-6.

Cited by 114 publications

References 42 publications

Maintenance of genomic integrity by p53: complementary roles for activated and non-activated p53

Maintenance of genomic integrity by p53: complementary roles for activated and non-activated p53

The Cockayne Syndrome Group B Gene Product Is Involved in Cellular Repair of 8-Hydroxyadenine in DNA

Role of the ATPase domain of the Cockayne syndrome group B protein in UV induced apoptosis

Contact Info

Product

Resources

About