Gene Symbol: Ercc8
Description: ERCC excision repair 8, CSA ubiquitin ligase complex subunit
Alias: Ckn1, DNA excision repair protein ERCC-8, Cockayne syndrome 1 (classical), excision repair cross-complementation group 8, excision repair cross-complementing rodent repair deficiency, complementation group 8, excision repaiross-complementing rodent repair deficiency, complementation group 8
Species: rat
Products:     Ercc8

Top Publications

  1. Guthrie O, Xu H. Noise exposure potentiates the subcellular distribution of nucleotide excision repair proteins within spiral ganglion neurons. Hear Res. 2012;294:21-30 pubmed publisher
    ..Furthermore, noise exposure depleted XPA from the nucleus regardless of location along the cochlear spiral. These findings provide a novel mechanism for interpreting noise-induced neuronal stress. ..
  2. Laugel V, Dalloz C, Durand M, Sauvanaud F, Kristensen U, Vincent M, et al. Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. Hum Mutat. 2010;31:113-26 pubmed publisher
    ..This rare disease is linked to mutations in the CSB/ERCC6 and CSA/ERCC8 genes encoding proteins involved in the transcription-coupled DNA repair pathway...
  3. Fousteri M, Mullenders L. Transcription-coupled nucleotide excision repair in mammalian cells: molecular mechanisms and biological effects. Cell Res. 2008;18:73-84 pubmed publisher
    ..These and yet unidentified proteins will accomplish not only efficient repair of transcription-blocking lesions, but are also likely to contribute to DNA damage signalling events. ..
  4. Kamileri I, Karakasilioti I, Garinis G. Nucleotide excision repair: new tricks with old bricks. Trends Genet. 2012;28:566-73 pubmed publisher
    ..Together, these findings add new pieces to the puzzle for understanding NER and the relevance of NER defects in development and disease. ..
  5. Groisman R, Kuraoka I, Chevallier O, Gaye N, Magnaldo T, Tanaka K, et al. CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome. Genes Dev. 2006;20:1429-34 pubmed
    ..Moreover, we demonstrate the importance of CSB degradation for post-TCR recovery of transcription and for the Cockayne syndrome. Our results unravel for the first time the functional relationship between CSA and CSB. ..
  6. Khayat M, Hardouf H, Zlotogora J, Shalev S. High carriers frequency of an apparently ancient founder mutation p.Tyr322X in the ERCC8 gene responsible for Cockayne syndrome among Christian Arabs in Northern Israel. Am J Med Genet A. 2010;152A:3091-4 pubmed publisher
    ..Tyr322X mutation. Genetic screening of the p.Tyr322X mutation of the ERCC8 gene in this population documented a carrier frequency of 6.79% (95% confidence interval: 3.84-9.74%)...
  7. Henning K, Li L, Iyer N, McDaniel L, Reagan M, Legerski R, et al. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. Cell. 1995;82:555-64 pubmed
    ..CSA protein interacts with CSB protein and with p44 protein, a subunit of the human RNA polymerase II transcription factor IIH. These observations suggest that the products of the CSA and CSB genes are involved in transcription. ..
  8. Gorgels T, van der Pluijm I, Brandt R, Garinis G, van Steeg H, van den Aardweg G, et al. Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for Cockayne syndrome. Mol Cell Biol. 2007;27:1433-41 pubmed
  9. Nagtegaal A, Rainey R, van der Pluijm I, Brandt R, van der Horst G, Borst J, et al. Cockayne syndrome group B (Csb) and group a (Csa) deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice. J Neurosci. 2015;35:4280-6 pubmed publisher
    ..Our data indicate that the hearing loss observed in CS patients is reproduced in mouse models of this disease. We hypothesize that accumulating DNA damage, secondary to the loss of TCR, contributes to susceptibility to hearing loss. ..

More Information


  1. Guthrie O. Dynamic compartmentalization of DNA repair proteins within spiral ganglion neurons in response to noise stress. Int J Neurosci. 2012;122:757-66 pubmed publisher
    ..The combined results suggest that in response to noise stress and/or otoprotective therapy, spiral ganglion neurons may selectively remodel compartmentalized DNA repair proteins. ..
  2. Bertola D, Cao H, Albano L, Oliveira D, Kok F, Marques Dias M, et al. Cockayne syndrome type A: novel mutations in eight typical patients. J Hum Genet. 2006;51:701-5 pubmed
    ..b>CKN1 is the gene responsible for CS-A, whose mutations disrupt the transcription-coupled repair system of the actively ..
  3. Selby C, Sancar A. Human transcription-repair coupling factor CSB/ERCC6 is a DNA-stimulated ATPase but is not a helicase and does not disrupt the ternary transcription complex of stalled RNA polymerase II. J Biol Chem. 1997;272:1885-90 pubmed
    ..CSB is a DNA-binding protein, and it also binds to XPA, TFIIH, and the p34 subunit of TFIIE. These interactions are likely to play a role in recruiting repair proteins to ternary complexes formed at damage sites. ..
  4. D Errico M, Parlanti E, Teson M, Degan P, Lemma T, Calcagnile A, et al. The role of CSA in the response to oxidative DNA damage in human cells. Oncogene. 2007;26:4336-43 pubmed
    ..These findings support the hypothesis that defective repair of oxidative DNA damage is involved in the clinical features of CS patients. ..
  5. de Waard H, de Wit J, Andressoo J, van Oostrom C, Riis B, Weimann A, et al. Different effects of CSA and CSB deficiency on sensitivity to oxidative DNA damage. Mol Cell Biol. 2004;24:7941-8 pubmed
    ..We suggest that the CSA and CSB proteins in part perform separate roles in different DNA damage response pathways. ..
  6. Groisman R, Polanowska J, Kuraoka I, Sawada J, Saijo M, Drapkin R, et al. The ubiquitin ligase activity in the DDB2 and CSA complexes is differentially regulated by the COP9 signalosome in response to DNA damage. Cell. 2003;113:357-67 pubmed
    ..Knockdown of CSN with RNA interference leads to defects in NER. These results suggest that the distinct UV response of the DDB2 and CSA complexes is involved in diverse mechanisms of NER. ..
  7. Kamiuchi S, Saijo M, Citterio E, de Jager M, Hoeijmakers J, Tanaka K. Translocation of Cockayne syndrome group A protein to the nuclear matrix: possible relevance to transcription-coupled DNA repair. Proc Natl Acad Sci U S A. 2002;99:201-6 pubmed
    ..The hydrogen peroxide-induced translocation of CSA was also CSB dependent. These findings establish a link between TCR and the nuclear matrix mediated by CSA. ..
  8. Fousteri M, Vermeulen W, Van Zeeland A, Mullenders L. Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. Mol Cell. 2006;23:471-82 pubmed
    ..These results give insight into the nature and order of molecular events that take place during TCR in the context of chromosomal DNA. ..