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Gene Review

Ercc6  -  excision repair cross-complementing rodent...

Mus musculus

Synonyms: 4732403I04, C130058G22Rik, CS group B correcting gene, CSB
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Disease relevance of Ercc6

  • Mutations in the CSB gene cause Cockayne syndrome (CS), a DNA repair disorder characterized by UV sensitivity and severe physical and neurological impairment [1].
  • CSB(-/-) mice are sensitive to UV-induced skin cancer but show no increased rate of spontaneous cancer [2].
  • The median latency time of squamous cell carcinomas (diameters > or = 1 mm) is 84 days for the XPC -/- mice, 115 days for the CSB -/- mice, and 234-238 days for the heterozygous and wild-type control groups [3].
  • In addition, CSB -/- mice develop marked parakeratosis, whereas XPC -/- mice and controls do not [3].
  • To determine to what extent a TCR deficiency affects carcinogen-induced mutagenesis and carcinogenesis, CS group B correcting gene (CSB)-deficient mice were treated with the genotoxic carcinogen benzo(a)pyrene (B[a]P) at an oral dose of 13 mg/kg body weight, three times a week [4].

High impact information on Ercc6

  • Mice with a targeted deletion of the CSB gene (Csb(-/-)) exhibit a much milder ataxic phenotype than human patients [5].
  • Here we show that mice lacking both the XPA (XP-group A) and CSB (CS-group B) genes in contrast to the single mutants display severe growth retardation, ataxia, and motor dysfunction during early postnatal development [6].
  • CSB functions in the transcription-coupled repair subpathway of nucleotide excision repair [1].
  • CSB(-/-) Ink4a/ARF(-/-) MEFs were also more sensitive to UV-induced p53 induction and UV-induced apoptosis than were Ink4a/ARF(-/-) MEFs [2].
  • Moreover, CSB(-/-) Ink4a/ARF(-/-) mouse embryo fibroblasts (MEFs) exhibited a lower colony formation rate after low-density seeding, a lower rate of H-Ras-induced transformation, slower proliferation, and a lower mRNA synthesis rate than Ink4a/ARF(-/-) MEFs [2].

Biological context of Ercc6

  • The CSB(-/-) p53(-/-) MEFs demonstrated lower colony formation efficiency, a lower proliferation rate, a lower mRNA synthesis rate, and a higher rate of UV-induced cell death than p53(-/-) MEFs [2].
  • The Cockayne syndrome B (CSB) gene product is involved in the repair of various types of base modifications in actively transcribed DNA sequences [7].
  • CSB mice, defective in transcription-coupled repair, were far more sensitive for immunosuppression as were XPA mice, defective in both transcription-coupled repair and global genome repair [8].
  • Lymph node cell numbers were increased very significantly in XPA, mildly increased in CSB, and not in XPC mice [9].

Anatomical context of Ercc6

  • B[a]P treatment gave rise to increased mutant frequencies at lacZ in all of the organs tested without a significant difference between CSB-/- and wild-type mice, whereas B[a]P-induced Hprt mutant frequencies in splenic T-lymphocytes were significantly more enhanced in CSB-/- mice than in control mice [4].

Associations of Ercc6 with chemical compounds

  • The sequence data obtained from Hprt mutants indicate that B[a]P adducts at guanine residues were preferentially removed from the transcribed strand of the Hprt gene in control mice but not in CSB-/- mice [4].
  • Therefore, it may be either chondroitin sulfate B (CSB) (dermatan sulfate) or one of the 'chondroitin sulfate isomers' (D-H) [10].

Other interactions of Ercc6

  • Collectively, these results indicate that the antineoplastic effect of CSB gene disruption is at least partially p53 independent; it may result from impaired transcription or from apoptosis secondary to environmental or endogenous DNA damage [2].


  1. Retinal degeneration and ionizing radiation hypersensitivity in a mouse model for cockayne syndrome. Gorgels, T.G., van der Pluijm, I., Brandt, R.M., Garinis, G.A., van Steeg, H., van den Aardweg, G., Jansen, G.H., Ruijter, J.M., Bergen, A.A., van Norren, D., Hoeijmakers, J.H., van der Horst, G.T. Mol. Cell. Biol. (2007) [Pubmed]
  2. Disruption of the Cockayne syndrome B gene impairs spontaneous tumorigenesis in cancer-predisposed Ink4a/ARF knockout mice. Lu, Y., Lian, H., Sharma, P., Schreiber-Agus, N., Russell, R.G., Chin, L., van der Horst, G.T., Bregman, D.B. Mol. Cell. Biol. (2001) [Pubmed]
  3. Impact of global genome repair versus transcription-coupled repair on ultraviolet carcinogenesis in hairless mice. Berg, R.J., Rebel, H., van der Horst, G.T., van Kranen, H.J., Mullenders, L.H., van Vloten, W.A., de Gruijl, F.R. Cancer Res. (2000) [Pubmed]
  4. The relationship between benzo[a]pyrene-induced mutagenesis and carcinogenesis in repair-deficient Cockayne syndrome group B mice. Wijnhoven, S.W., Kool, H.J., van Oostrom, C.T., Beems, R.B., Mullenders, L.H., van Zeeland, A.A., van der Horst, G.T., Vrieling, H., van Steeg, H. Cancer Res. (2000) [Pubmed]
  5. Increased apoptosis, p53 up-regulation, and cerebellar neuronal degeneration in repair-deficient Cockayne syndrome mice. Laposa, R.R., Huang, E.J., Cleaver, J.E. Proc. Natl. Acad. Sci. U.S.A. (2007) [Pubmed]
  6. Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne syndrome Group B DNA repair genes. Murai, M., Enokido, Y., Inamura, N., Yoshino, M., Nakatsu, Y., van der Horst, G.T., Hoeijmakers, J.H., Tanaka, K., Hatanaka, H. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  7. A global DNA repair mechanism involving the Cockayne syndrome B (CSB) gene product can prevent the in vivo accumulation of endogenous oxidative DNA base damage. Osterod, M., Larsen, E., Le Page, F., Hengstler, J.G., Van Der Horst, G.T., Boiteux, S., Klungland, A., Epe, B. Oncogene (2002) [Pubmed]
  8. Association of transcription-coupled repair but not global genome repair with ultraviolet-B-induced Langerhans cell depletion and local immunosuppression. Kölgen, W., van Steeg, H., van der Horst, G.T., Hoeijmakers, J.H., van Vloten, W.A., de Gruijl, F.R., Garssen, J. J. Invest. Dermatol. (2003) [Pubmed]
  9. Differential ultraviolet-B-induced immunomodulation in XPA, XPC, and CSB DNA repair-deficient mice. Boonstra, A., van Oudenaren, A., Baert, M., van Steeg, H., Leenen, P.J., van der Horst, G.T., Hoeijmakers, J.H., Savelkoul, H.F., Garssen, J. J. Invest. Dermatol. (2001) [Pubmed]
  10. Interferon effect on glycosaminoglycans in mouse glioma in vitro. Wiranowska, M., Naidu, A.K. J. Neurooncol. (1994) [Pubmed]
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