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ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)

Written2001-09Anne Stary, Alain Sarasin
Laboratory of Genetic Instability, Cancer, UPR2169 CNRS, Institut de Recherches sur le Cancer, 7, rue guy Moquet, BP 8, 94801 VILLEJUIF, France

(Note : for Links provided by Atlas : click)

Identity

Other aliasCSA (Cockayne syndrome A)
CKN1
ERCC8
LocusID (NCBI) 1161
Atlas_Id 301
Location 5q12.1  [Link to chromosome band 5q12]
Location_base_pair Starts at and ends at bp from pter
 
  CSA (5) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
PDE4D (5q11.2) / ERCC8 (5q12.1)
Note see also the paper on Nucleotide Excision Repair

DNA/RNA

Transcription 2011 b

Protein

Description 396 amino acids - 44 kDa
Function The Cockayne syndrome group A (CSA) gene encodes a WD repeat protein that interacts with the Cockayne syndrome group B ( CSB) protein and a subunit of RNA polymerase II transcription factor TFIIH suggesting that the products of CSA and CSB genes are involved in transcription. The CSA defect leads to defective strand specific repair of transcriptionally active genes.

Mutations

Germinal one base substitution

Implicated in

Note
  
Entity Cockayne syndrome, CS group A
Disease The Cockayne syndrome A is characterized by sensitivity to sunlight, dwarfism, precociously senile appearance, pigmentary retinal degeneration, optic atrophy and deafness.
  

Bibliography

UV-induced ubiquitination of RNA polymerase II: a novel modification deficient in Cockayne syndrome cells.
Bregman DB, Halaban R, van Gool AJ, Henning KA, Friedberg EC, Warren SL
Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (21) : 11586-11590.
PMID 8876179
 
Prenatal diagnosis of xeroderma pigmentosum and Cockayne syndrome.
Cleaver JE, Volpe JP, Charles WC, Thomas GH
Prenatal diagnosis. 1994 ; 14 (10) : 921-928.
PMID 7534923
 
Proneness to UV-induced apoptosis in human fibroblasts defective in transcription coupled repair is associated with the lack of Mdm2 transactivation.
Conforti G, Nardo T, D'Incalci M, Stefanini M
Oncogene. 2000 ; 19 (22) : 2714-2720.
PMID 10851071
 
Reduced RNA polymerase II transcription in extracts of cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells.
Dianov GL, Houle JF, Iyer N, Bohr VA, Friedberg EC
Nucleic acids research. 1997 ; 25 (18) : 3636-3642.
PMID 9278484
 
DNA repair. The bases for Cockayne syndrome.
Hanawalt PC
Nature. 2000 ; 405 (6785) : 415-416.
PMID 10839526
 
The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH.
Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC
Cell. 1995 ; 82 (4) : 555-564.
PMID 7664335
 
Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A.
Itoh T, Shiomi T, Shiomi N, Harada Y, Wakasugi M, Matsunaga T, Nikaido O, Friedberg EC, Yamaizumi M
Mutation research. 1996 ; 362 (2) : 167-174.
PMID 8596535
 
Cockayne syndrome.
Khan GQ, Hassan G, Yaseen M, Masood T, Hajini GH, Akhtar D, Qureshi T
The Journal of the Association of Physicians of India. 2000 ; 48 (11) : 1119-1121.
PMID 11310397
 
Ultraviolet radiation alters the phosphorylation of RNA polymerase II large subunit and accelerates its proteasome-dependent degradation.
Luo Z, Zheng J, Lu Y, Bregman DB
Mutation research. 2001 ; 486 (4) : 259-274.
PMID 11516929
 
Confirmation of homozygosity for a single nucleotide substitution mutation in a Cockayne syndrome patient using monoallelic mutation analysis in somatic cell hybrids.
McDaniel LD, Legerski R, Lehmann AR, Friedberg EC, Schultz RA
Human mutation. 1997 ; 10 (4) : 317-321.
PMID 9338586
 
UV light-induced degradation of RNA polymerase II is dependent on the Cockayne's syndrome A and B proteins but not p53 or MLH1.
McKay BC, Chen F, Clarke ST, Wiggin HE, Harley LM, Ljungman M
Mutation research. 2001 ; 485 (2) : 93-105.
PMID 11182541
 
Cockayne syndrome: review of 25 cases.
Ozdirim E, Topçu M, Ozön A, Cila A
Pediatric neurology. 1996 ; 15 (4) : 312-316.
PMID 8972530
 
Human cancer and DNA repair-deficient diseases.
Sarasin A, Stary A
Cancer detection and prevention. 1997 ; 21 (5) : 406-411.
PMID 9307843
 
Genetic analysis of twenty-two patients with Cockayne syndrome.
Stefanini M, Fawcett H, Botta E, Nardo T, Lehmann AR
Human genetics. 1996 ; 97 (4) : 418-423.
PMID 8834235
 
The transcription-repair coupling factor CSA is required for efficient repair only during the elongation stages of RNA polymerase II transcription.
Tu Y, Bates S, Pfeifer GP
Mutation research. 1998 ; 400 (1-2) : 143-151.
PMID 9685618
 
The sensitivity of Cockayne's syndrome cells to DNA-damaging agents is not due to defective transcription-coupled repair of active genes.
van Oosterwijk MF, Versteeg A, Filon R, van Zeeland AA, Mullenders LH
Molecular and cellular biology. 1996 ; 16 (8) : 4436-4444.
PMID 8754844
 

Citation

This paper should be referenced as such :
Stary, A ; Sarasin, A
ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)
Atlas Genet Cytogenet Oncol Haematol. 2002;6(1):5-6.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CSAID301.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  PDE4D/ERCC8 (5q12)


External links

Nomenclature
Cards
AtlasCSAID301.txt
Aliases
Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)1161
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
Miscellaneous
canSAR (ICR) (select the gene name)
Other databaseCockayne syndrome
Other databaseUMD-CSA (ERCC8 (excision repair cross-complementing rodent repair deficiency, complementation group 8)). Curator: V.Laugel
Probes
Litterature
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed


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indexed on : Thu Oct 18 17:32:40 CEST 2018

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