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Gene Review

Ercc2  -  excision repair cross-complementing rodent...

Mus musculus

Synonyms: AA407812, AU020867, AW240756, CXPD, DNA excision repair protein ERCC-2, ...
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Disease relevance of Ercc2


High impact information on Ercc2

  • To study the role of XPD in nucleotide excision repair and transcription and its implication in human disorders, we isolated the mouse XPD gene and generated a null allele via homologous recombination in embryonic stem cells by deleting XPD helicase domains IV-VI [2].
  • These results establish the essential function of the XPD protein in mammals and in cellular viability and are consistent with the notion that only subtle XPD mutations are found in XP, XP/Cockayne syndrome, and trichothiodystrophy patients [2].
  • However, when intercrossing heterozygotes, homozygous XPD mutant mice were selectively absent from the offspring [2].
  • More strikingly, genetic defects in the same NER pathway, and in some cases even within the same gene, XPD, can also give rise to disorders with greatly elevated cancer rates but without progeria (xeroderma pigmentosum) [4].
  • In this review, we will discuss the connection between genome maintenance, aging and cancer in light of a new mouse model of XPD disease [4].

Other interactions of Ercc2

  • Defects in the XPB, XPD, and XPG genes can result in three different syndromes, xeroderma pigmentosum, Cockayne syndrome, or trichothiodystrophy, depending on the specific mutation involved [5].


  1. Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction. Wijnhoven, S.W., Beems, R.B., Roodbergen, M., van den Berg, J., Lohman, P.H., Diderich, K., van der Horst, G.T., Vijg, J., Hoeijmakers, J.H., van Steeg, H. DNA Repair (Amst.) (2005) [Pubmed]
  2. Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. de Boer, J., Donker, I., de Wit, J., Hoeijmakers, J.H., Weeda, G. Cancer Res. (1998) [Pubmed]
  3. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. Andressoo, J.O., Mitchell, J.R., de Wit, J., Hoogstraten, D., Volker, M., Toussaint, W., Speksnijder, E., Beems, R.B., van Steeg, H., Jans, J., de Zeeuw, C.I., Jaspers, N.G., Raams, A., Lehmann, A.R., Vermeulen, W., Hoeijmakers, J.H., van der Horst, G.T. Cancer Cell (2006) [Pubmed]
  4. Nucleotide excision repair disorders and the balance between cancer and aging. Andressoo, J.O., Hoeijmakers, J.H., Mitchell, J.R. Cell Cycle (2006) [Pubmed]
  5. Disorders of DNA replication and repair. Auerbach, A.D., Verlander, P.C. Curr. Opin. Pediatr. (1997) [Pubmed]
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