Gene Symbol: Ercc2
Description: excision repair cross-complementing rodent repair deficiency, complementation group 2
Alias: AA407812, AU020867, AW240756, CXPD, Ercc-2, Mhdarco15, RCO015, XPD, general transcription and DNA repair factor IIH helicase subunit XPD, DNA excision repair protein ERCC-2, DNA repair protein complementing XP-D cells, TFIIH basal transcription factor complex helicase XPD subunit, TFIIH basal transcription factor complex helicase subunit, TFIIH subunit XPD, xeroderma pigmentosum group D-complementing protein
Species: mouse
Products:     Ercc2

Top Publications

  1. Andressoo J, Mitchell J, de Wit J, Hoogstraten D, Volker M, Toussaint W, et al. An Xpd mouse model for the combined xeroderma pigmentosum/Cockayne syndrome exhibiting both cancer predisposition and segmental progeria. Cancer Cell. 2006;10:121-32 pubmed
    ..We report generation of a knockin mouse model for the combined disorder XPCS with a G602D-encoding mutation in the Xpd helicase gene...
  2. Wijnhoven S, Beems R, Roodbergen M, van den Berg J, Lohman P, Diderich K, et al. Accelerated aging pathology in ad libitum fed Xpd(TTD) mice is accompanied by features suggestive of caloric restriction. DNA Repair (Amst). 2005;4:1314-24 pubmed
    Trichothiodystrophy (TTD) patients with a mutation in the XPD gene of nucleotide excision repair (NER) have a short life span and show various features of premature aging, thereby linking DNA damage to the aging process...
  3. Compe E, Drané P, Laurent C, Diderich K, Braun C, Hoeijmakers J, et al. Dysregulation of the peroxisome proliferator-activated receptor target genes by XPD mutations. Mol Cell Biol. 2005;25:6065-76 pubmed
    Mutations in the XPD subunit of TFIIH give rise to human genetic disorders initially defined as DNA repair syndromes...
  4. Andressoo J, Weeda G, de Wit J, Mitchell J, Beems R, van Steeg H, et al. An Xpb mouse model for combined xeroderma pigmentosum and cockayne syndrome reveals progeroid features upon further attenuation of DNA repair. Mol Cell Biol. 2009;29:1276-90 pubmed publisher
    ..Furthermore, mice carrying the Xpb(XPCS) mutation together with a point mutation in the second TFIIH helicase Xpd are healthy at birth but display neonatal lethality, indicating that transcription efficiency is sufficient to ..
  5. Andressoo J, Jans J, de Wit J, Coin F, Hoogstraten D, van de Ven M, et al. Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles. PLoS Biol. 2006;4:e322 pubmed
    ..We addressed the potential of different recessive alleles to contribute to the enigmatic pleiotropy associated with XPD recessive disorders in compound heterozygous mouse models...
  6. de Boer J, Donker I, de Wit J, Hoeijmakers J, Weeda G. Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality. Cancer Res. 1998;58:89-94 pubmed
    The xeroderma pigmentosum (XP) group D (XPD) gene encodes a DNA helicase that is a subunit of the transcription factor IIH complex, involved both in nucleotide excision repair of UV-induced DNA damage and in basal transcription ..
  7. de Boer J, van Steeg H, Berg R, Garssen J, de Wit J, van Oostrum C, et al. Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition. Cancer Res. 1999;59:3489-94 pubmed
    ..contrast to photosensitive NER-deficient trichothiodystrophy (TTD) patients carrying mutations in the same XPD gene. XPD encodes a helicase subunit of the dually functional DNA repair/basal transcription complex TFIIH...
  8. Dollé M, Busuttil R, Garcia A, Wijnhoven S, van Drunen E, Niedernhofer L, et al. Increased genomic instability is not a prerequisite for shortened lifespan in DNA repair deficient mice. Mutat Res. 2006;596:22-35 pubmed
    ..of aging as a consequence of NER deficiency, we crossed four different mouse mutants, Xpa-/-, Ercc6(Csb)-/-, Ercc2(Xpd)m/m and Ercc1-/m, with mice harboring lacZ-reporter genes to assess mutant frequencies and spectra in ..
  9. de Boer J, Andressoo J, de Wit J, Huijmans J, Beems R, van Steeg H, et al. Premature aging in mice deficient in DNA repair and transcription. Science. 2002;296:1276-9 pubmed
    ..Here, we provide strong support for this hypothesis by describing studies of mice with a mutation in XPD, a gene encoding a DNA helicase that functions in both repair and transcription and that is mutated in the human ..

More Information


  1. Lehmann A. The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases. Genes Dev. 2001;15:15-23 pubmed
  2. van de Ven M, Andressoo J, Holcomb V, von Lindern M, Jong W, De Zeeuw C, et al. Adaptive stress response in segmental progeria resembles long-lived dwarfism and calorie restriction in mice. PLoS Genet. 2006;2:e192 pubmed
    ..symptoms were also present at 2 wk of age in a novel progeroid nucleotide excision repair-deficient mouse model (XPD(G602D/R722W)/XPA(-/-)) that survived weaning with high penetrance...
  3. de Boer J, de Wit J, van Steeg H, Berg R, Morreau H, Visser P, et al. A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. Mol Cell. 1998;1:981-90 pubmed
    ..brittle hair disorder trichothiodystrophy (TTD) is caused by point mutations in the essential XPB and XPD helicase subunits of the dual functional DNA repair/basal transcription factor TFIIH...
  4. Compe E, Malerba M, Soler L, Marescaux J, Borrelli E, Egly J. Neurological defects in trichothiodystrophy reveal a coactivator function of TFIIH. Nat Neurosci. 2007;10:1414-22 pubmed
    Mutations in the XPD subunit of the DNA repair/transcription factor TFIIH yield the rare genetic disorder trichothiodystrophy (TTD)...
  5. Park J, Cho M, Leonard S, Calder B, Mian I, Kim W, et al. Homeostatic imbalance between apoptosis and cell renewal in the liver of premature aging Xpd mice. PLoS ONE. 2008;3:e2346 pubmed publisher
    Unrepaired or misrepaired DNA damage has been implicated as a causal factor in cancer and aging. Xpd(TTD) mice, harboring defects in nucleotide excision repair and transcription due to a mutation in the Xpd gene (R722W), display severe ..
  6. Rossi D, Bryder D, Seita J, Nussenzweig A, Hoeijmakers J, Weissman I. Deficiencies in DNA damage repair limit the function of haematopoietic stem cells with age. Nature. 2007;447:725-9 pubmed
    ..These data are consistent with DNA damage accrual being a physiological mechanism of stem cell ageing that may contribute to the diminished capacity of aged tissues to return to homeostasis after exposure to acute stress or injury. ..
  7. Yin J, Vogel U, Ma Y, Qi R, Wang H. HapMap-based study of the DNA repair gene ERCC2 and lung cancer susceptibility in a Chinese population. Carcinogenesis. 2009;30:1181-5 pubmed publisher
    ..The excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2)/xeroderma pigmentosum complementary group D (XPD) protein is considered to be a key enzyme in nucleotide excision ..
  8. Levy H, Schultz R, Cohen M. Comparative gene mapping in the species Muntiacus muntjac. Cytogenet Cell Genet. 1992;61:276-81 pubmed
    ..hybridization techniques, homologs of the protein kinase C beta polypeptide (PRKCB1) and the DNA repair genes ERCC2 and XRCC1 have been assigned to Indian muntjac chromosome 2...
  9. Durik M, Kavousi M, van der Pluijm I, Isaacs A, Cheng C, Verdonk K, et al. Nucleotide excision DNA repair is associated with age-related vascular dysfunction. Circulation. 2012;126:468-78 pubmed publisher
    ..In mice with genomic instability resulting from the defective nucleotide excision repair genes ERCC1 and XPD (Ercc1(d/-) and Xpd(TTD) mice), we explored age-dependent vascular function compared with that in wild-type mice...
  10. van de Ven M, Andressoo J, van der Horst G, Hoeijmakers J, Mitchell J. Effects of compound heterozygosity at the Xpd locus on cancer and ageing in mouse models. DNA Repair (Amst). 2012;11:874-83 pubmed publisher
    b>XPD is a helicase subunit of transcription factor IIH, an eleven-protein complex involved in a wide range of cellular activities including transcription and nucleotide excision DNA repair (NER)...
  11. Kunze S, Dalke C, Fuchs H, Klaften M, Rössler U, Hornhardt S, et al. New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts. PLoS ONE. 2015;10:e0125304 pubmed publisher
    ..Using exome sequencing, we identified a c.2209T>C mutation in the Xpd/Ercc2 gene leading to a Ser737Pro exchange. During embryonic development, the mutant eyes did not show major changes...
  12. Le May N, Dubaele S, Proietti de Santis L, Billecocq A, Bouloy M, Egly J. TFIIH transcription factor, a target for the Rift Valley hemorrhagic fever virus. Cell. 2004;116:541-50 pubmed
    ..By competing with XPD, the natural partner of p44 within TFIIH, and sequestering p44 and XPB subunits, NSs prevents the assembly of TFIIH ..
  13. Garssen J, van Steeg H, De Gruijl F, de Boer J, van der Horst G, van Kranen H, et al. Transcription-coupled and global genome repair differentially influence UV-B-induced acute skin effects and systemic immunosuppression. J Immunol. 2000;164:6199-205 pubmed
    ..compared: CSB and XPC mice lacking transcription-coupled or global genome NER, respectively, as well as XPA and TTD/XPD mice carrying complete or partial defects in both NER subpathways, respectively...
  14. Lamerdin J, Stilwagen S, Ramirez M, Stubbs L, Carrano A. Sequence analysis of the ERCC2 gene regions in human, mouse, and hamster reveals three linked genes. Genomics. 1996;34:399-409 pubmed
    The ERCC2 (excision repair cross-complementing rodent repair group 2) gene product is involved in transcription-coupled repair as an integral member of the basal transcription factor BTF2/TFIIH complex...
  15. Weber C, Salazar E, Stewart S, Thompson L. Molecular cloning and biological characterization of a human gene, ERCC2, that corrects the nucleotide excision repair defect in CHO UV5 cells. Mol Cell Biol. 1988;8:1137-46 pubmed the incision step of nucleotide excision repair, was used to identify and clone a complementing human gene, ERCC2, and to study the repair process...
  16. Saunders A, Seldin M. The syntenic relationship of proximal mouse chromosome 7 and the myotonic dystrophy gene region on human chromosome 19q. Genomics. 1990;6:324-32 pubmed
    ..This study establishes a detailed map of proximal mouse chromosome 7 that will be useful in identifying and determining whether new human chromosome 19 probes are linked to the DM region. ..
  17. Hrabe de Angelis M, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, et al. Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat Genet. 2000;25:444-7 pubmed
    ..Our mutant lines are freely accessible to non-commercial users (for information, see ..
  18. Baar M, Brandt R, Putavet D, Klein J, Derks K, Bourgeois B, et al. Targeted Apoptosis of Senescent Cells Restores Tissue Homeostasis in Response to Chemotoxicity and Aging. Cell. 2017;169:132-147.e16 pubmed publisher
    ..Moreover, it restored fitness, fur density, and renal function in both fast aging XpdTTD/TTD and naturally aged mice...
  19. Baden H, Jackson C, Weiss L, Jimbow K, Lee L, Kubilus J, et al. The physicochemical properties of hair in the BIDS syndrome. Am J Hum Genet. 1976;28:514-21 pubmed
    ..Since the matrix component seen by electrophoresis consists of more than one component the defect cannot be explained as a single structural gene abnormality. ..
  20. Nonnekens J, Pérez Fernández J, Theil A, Gadal O, Bonnart C, Giglia Mari G. Mutations in TFIIH causing trichothiodystrophy are responsible for defects in ribosomal RNA production and processing. Hum Mol Genet. 2013;22:2881-93 pubmed publisher
    ..Our findings provide evidence that defective ribosome synthesis represents a new faulty mechanism involved in the pathophysiology of TFIIH-related diseases. ..
  21. Rudert F, Saunders A, Rebstock S, Thompson J, Zimmermann W. Characterization of murine carcinoembryonic antigen gene family members. Mamm Genome. 1992;3:262-73 pubmed
    ..The more distantly related Cea-5 seems to be ubiquitously expressed. The putative promoter region of Cea-2 lacks typical TATA- or CAAT-boxes, but contains other conserved motifs that could play a role in the initiation of transcription. ..
  22. Godon C, Mourgues S, Nonnekens J, Mourcet A, Coin F, Vermeulen W, et al. Generation of DNA single-strand displacement by compromised nucleotide excision repair. EMBO J. 2012;31:3550-63 pubmed publisher
    ..compromised by a pathologically significant mutation in a subunit of the repair/transcription factor TFIIH, namely XPD. In contrast to previous studies, we find that no single- or double-strand DNA breaks are produced at early time ..
  23. Mirabella F, Baxter E, Boissinot M, James S, Cockerill P. The human IL-3/granulocyte-macrophage colony-stimulating factor locus is epigenetically silent in immature thymocytes and is progressively activated during T cell development. J Immunol. 2010;184:3043-54 pubmed publisher
    ..Significantly, we also found that memory CD4 positive T cells, but not naive T cells, maintain a remodeled chromatin structure resembling that seen in T blast cells. ..
  24. Jacobs H, Fukita Y, van der Horst G, de Boer J, Weeda G, Essers J, et al. Hypermutation of immunoglobulin genes in memory B cells of DNA repair-deficient mice. J Exp Med. 1998;187:1735-43 pubmed
    ..mutations in either of the following DNA repair genes: xeroderma pigmentosum complementation group (XP)A and XPD, Cockayne syndrome complementation group B (CSB), mutS homologue 2 (MSH2), radiation sensitivity 54 (RAD54), poly (..
  25. Nicolaije C, Diderich K, Botter S, Priemel M, Waarsing J, Day J, et al. Age-related skeletal dynamics and decrease in bone strength in DNA repair deficient male trichothiodystrophy mice. PLoS ONE. 2012;7:e35246 pubmed publisher
    ..Trichothiodystrophy (TTD) mice have a mutation in the Ercc2 DNA repair gene, resulting in accumulation of DNA damage and several features of segmental accelerated aging...
  26. Jaarsma D, van der Pluijm I, de Waard M, Haasdijk E, Brandt R, Vermeij M, et al. Age-related neuronal degeneration: complementary roles of nucleotide excision repair and transcription-coupled repair in preventing neuropathology. PLoS Genet. 2011;7:e1002405 pubmed publisher
    ..matter microglia activation was not observed in NER-deficient Xpa(-/-) and Xpc(-/-) XP mice, but also occurred in Xpd(XPCS) mice carrying a point mutation (G602D) in the Xpd gene that is associated with a combined XPCS disorder and ..
  27. Kaushik Tiwari M, Rogers F. XPD-dependent activation of apoptosis in response to triplex-induced DNA damage. Nucleic Acids Res. 2013;41:8979-94 pubmed publisher
    ..Moreover, the TFIIH factor, XPD, occupies a central role in triggering apoptosis in response to triplex-induced DNA strand breaks...
  28. Traboulsi H, Davoli S, Catez P, Egly J, Compe E. Dynamic partnership between TFIIH, PGC-1α and SIRT1 is impaired in trichothiodystrophy. PLoS Genet. 2014;10:e1004732 pubmed publisher
  29. Mohrenweiser H, Carrano A, Fertitta A, Perry B, Thompson L, Tucker J, et al. Refined mapping of the three DNA repair genes, ERCC1, ERCC2, and XRCC1, on human chromosome 19. Cytogenet Cell Genet. 1989;52:11-4 pubmed
    Three DNA repair genes, ERCC1, ERCC2, and XRCC1, have been regionally mapped on human chromosome 19. ERCC2 and XRCC1 have been assigned to bands q13.2----q13.3 by in situ hybridization using fluorescently-labeled cosmid probes...