Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ERCC2 (Excision repair cross-complementing rodent repair deficiency, complementation group 2)

Identity

Other namesXPD
HGNC (Hugo) ERCC2
LocusID (NCBI) 2068
Location 19q13.32
Location_base_pair Starts at 45854649 and ends at 45873845 bp from pter ( according to hg19-Feb_2009)  [Mapping]
 
  XPD (19q13) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

DNA/RNA

Description 54336 bp; 23 exons
Transcription 2400b mRNA

Protein

Description 760 amino acids
Expression ubiquitous
Localisation nuclear
Function 5'-3' ATP-dependent helicase activity involved in DNA excision repair (NER) and as a subunit of the basal transcription factor TFIIH
The XPD gene product displayed 5'-3' helicase activity. The XPD as the XPB protein are also found in the transcription factor TFIIH, a large complex involved in the initiation of transcription The striking discovery that subunits of basal transcription factor TFIIH were involved in Nucleotide Excision Repair (NER) sheds light on a new aspect of NER : a close coupling to transcription via common use of essential factors. TFIIH fulfills a dual role in transcription initiation and NER and the role of TFIIH in NER might closely mimic its role in the transcription initiation process. In transcription initiation TFIIH is thought to be involved in unwinding of the promoter site and to allow promoter clearance. In the NER process TFIIH causes unwinding of the damage containing region that has been localized by XPC-HR23B and XPA-RPA, enabling the accumulation of NER proteins around the damaged site. Contrarely to the XPB helicase, the helicase activity of XPD is indispensable for NER but not for transcription initiation. So, there is much more XPD patients, and only two patients have been described as XP and CS.
Homology FLYBASE :Xpd ; MGI : Ercc2 (Nb 95413)

Mutations

Germinal 17 mutated sites associated with the xeroderma pigmentosum group D syndrome (among them 3 are also associated with the Cockayne'syndrome) and 15 mutated sites associated with the trichothiodystrophy syndrome

Implicated in

Entity xeroderma pigmentosum (XP), XP associated with Cockayne syndrome (CS), and trichothiodystrophy (TTD)
Disease predisposition to skin cancer: early skin cancers (XPD). Mental and stature abnormalities (XP/CS, and TTD)
  

External links

Nomenclature
HGNC (Hugo)ERCC2   3434
Cards
AtlasXPDID297
Entrez_Gene (NCBI)ERCC2  2068  excision repair cross-complementation group 2
GeneCards (Weizmann)ERCC2
Ensembl (Hinxton)ENSG00000104884 [Gene_View]  chr19:45854649-45873845 [Contig_View]  ERCC2 [Vega]
ICGC DataPortalENSG00000104884
cBioPortalERCC2
AceView (NCBI)ERCC2
Genatlas (Paris)ERCC2
WikiGenes2068
SOURCE (Princeton)NM_000400 NM_001130867
Genomic and cartography
GoldenPath (UCSC)ERCC2  -  19q13.32   chr19:45854649-45873845 -  19q13.3   [Description]    (hg19-Feb_2009)
EnsemblERCC2 - 19q13.3 [CytoView]
Mapping of homologs : NCBIERCC2 [Mapview]
OMIM126340   278730   601675   610756   
Gene and transcription
Genbank (Entrez)AK092872 AK130849 AK303358 AL535248 BC008346
RefSeq transcript (Entrez)NM_000400 NM_001130867
RefSeq genomic (Entrez)AC_000151 NC_000019 NC_018930 NG_007067 NT_011109 NW_001838496 NW_004929415
Consensus coding sequences : CCDS (NCBI)ERCC2
Cluster EST : UnigeneHs.487294 [ NCBI ]
CGAP (NCI)Hs.487294
Alternative Splicing : Fast-db (Paris)GSHG0015910
Alternative Splicing GalleryENSG00000104884
Gene ExpressionERCC2 [ NCBI-GEO ]     ERCC2 [ SEEK ]   ERCC2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP18074 (Uniprot)
NextProtP18074  [Medical]
With graphics : InterProP18074
Splice isoforms : SwissVarP18074 (Swissvar)
Catalytic activity : Enzyme3.6.4.12 [ Enzyme-Expasy ]   3.6.4.123.6.4.12 [ IntEnz-EBI ]   3.6.4.12 [ BRENDA ]   3.6.4.12 [ KEGG ]   
Domaine pattern : Prosite (Expaxy)DEAH_ATP_HELICASE (PS00690)    HELICASE_ATP_BIND_2 (PS51193)   
Domains : Interpro (EBI)ATP-dep_Helicase_C [organisation]   DEAD_2 [organisation]   DNA/RNA_helicase_DEAH_CS [organisation]   DNA_helicase_DNA-repair_Rad3 [organisation]   DUF1227 [organisation]   Helic_SF1/SF2_ATP-bd_DinG/Rad3 [organisation]   Helicase-like_DEXD_c2 [organisation]   P-loop_NTPase [organisation]   XPGD_DNA_repair [organisation]  
Related proteins : CluSTrP18074
Domain families : Pfam (Sanger)DEAD_2 (PF06733)    DUF1227 (PF06777)    Helicase_C_2 (PF13307)   
Domain families : Pfam (NCBI)pfam06733    pfam06777    pfam13307   
Domain families : Smart (EMBL)DEXDc2 (SM00488)  HELICc2 (SM00491)  
DMDM Disease mutations2068
Blocks (Seattle)P18074
Human Protein AtlasENSG00000104884 [gene] [tissue] [antibody] [cell] [cancer]
Peptide AtlasP18074
HPRD00530
IPIIPI00029728   IPI01014366   IPI00745781   IPI00745711   IPI00642906   IPI00442420   IPI00984321   
Protein Interaction databases
DIP (DOE-UCLA)P18074
IntAct (EBI)P18074
FunCoupENSG00000104884
BioGRIDERCC2
InParanoidP18074
Interologous Interaction database P18074
IntegromeDBERCC2
STRING (EMBL)ERCC2
Ontologies - Pathways
Ontology : AmiGOnucleotide-excision repair, DNA damage removal  response to hypoxia  in utero embryonic development  DNA binding  ATP-dependent DNA helicase activity  protein kinase activity  protein binding  ATP binding  nucleus  nucleoplasm  holo TFIIH complex  holo TFIIH complex  cytoplasm  spindle  ATP catabolic process  ATP catabolic process  ATP catabolic process  DNA repair  transcription-coupled nucleotide-excision repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair  transcription from RNA polymerase I promoter  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  protein phosphorylation  apoptotic process  response to oxidative stress  chromosome segregation  aging  protein C-terminus binding  DNA-dependent ATPase activity  DNA-dependent ATPase activity  cell proliferation  RNA polymerase II carboxy-terminal domain kinase activity  UV protection  post-embryonic development  gene expression  viral process  cyclin-dependent protein kinase activating kinase holoenzyme complex  spinal cord development  extracellular matrix organization  bone mineralization  central nervous system myelin formation  DNA duplex unwinding  DNA duplex unwinding  nucleotide-excision repair, DNA incision  multicellular organism growth  hair cell differentiation  embryonic cleavage  5'-3' DNA helicase activity  erythrocyte maturation  positive regulation of DNA binding  small molecule metabolic process  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  protein N-terminus binding  hair follicle maturation  positive regulation of viral transcription  4 iron, 4 sulfur cluster binding  hematopoietic stem cell differentiation  MMXD complex  regulation of mitotic cell cycle phase transition  
Ontology : EGO-EBInucleotide-excision repair, DNA damage removal  response to hypoxia  in utero embryonic development  DNA binding  ATP-dependent DNA helicase activity  protein kinase activity  protein binding  ATP binding  nucleus  nucleoplasm  holo TFIIH complex  holo TFIIH complex  cytoplasm  spindle  ATP catabolic process  ATP catabolic process  ATP catabolic process  DNA repair  transcription-coupled nucleotide-excision repair  transcription-coupled nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair  nucleotide-excision repair  transcription from RNA polymerase I promoter  transcription initiation from RNA polymerase I promoter  transcription elongation from RNA polymerase I promoter  termination of RNA polymerase I transcription  transcription from RNA polymerase II promoter  transcription from RNA polymerase II promoter  transcription initiation from RNA polymerase II promoter  transcription elongation from RNA polymerase II promoter  7-methylguanosine mRNA capping  protein phosphorylation  apoptotic process  response to oxidative stress  chromosome segregation  aging  protein C-terminus binding  DNA-dependent ATPase activity  DNA-dependent ATPase activity  cell proliferation  RNA polymerase II carboxy-terminal domain kinase activity  UV protection  post-embryonic development  gene expression  viral process  cyclin-dependent protein kinase activating kinase holoenzyme complex  spinal cord development  extracellular matrix organization  bone mineralization  central nervous system myelin formation  DNA duplex unwinding  DNA duplex unwinding  nucleotide-excision repair, DNA incision  multicellular organism growth  hair cell differentiation  embryonic cleavage  5'-3' DNA helicase activity  erythrocyte maturation  positive regulation of DNA binding  small molecule metabolic process  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  metal ion binding  protein N-terminus binding  hair follicle maturation  positive regulation of viral transcription  4 iron, 4 sulfur cluster binding  hematopoietic stem cell differentiation  MMXD complex  regulation of mitotic cell cycle phase transition  
Pathways : KEGGBasal transcription factors    Nucleotide excision repair   
Protein Interaction DatabaseERCC2
Wikipedia pathwaysERCC2
Gene fusion - rearrangments
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)ERCC2
snp3D : Map Gene to Disease2068
SNP (GeneSNP Utah)ERCC2
SNP : HGBaseERCC2
Genetic variants : HAPMAPERCC2
Exome VariantERCC2
1000_GenomesERCC2 
ICGC programENSG00000104884 
Cancer Gene: CensusERCC2 
Somatic Mutations in Cancer : COSMICERCC2 
CONAN: Copy Number AnalysisERCC2 
Mutations and Diseases : HGMDERCC2
Genomic VariantsERCC2  ERCC2 [DGVbeta]
dbVarERCC2
ClinVarERCC2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM126340    278730    601675    610756   
MedgenERCC2
GENETestsERCC2
Disease Genetic AssociationERCC2
Huge Navigator ERCC2 [HugePedia]  ERCC2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneERCC2
Homology/Alignments : Family Browser (UCSC)ERCC2
Phylogenetic Trees/Animal Genes : TreeFamERCC2
Chemical/Protein Interactions : CTD2068
Chemical/Pharm GKB GenePA27848
Clinical trialERCC2
Cancer Resource (Charite)ENSG00000104884
Other databases
Other databasehttp://cancergenome.broadinstitute.org/index.php?tgene=ERCC2
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed499 Pubmed reference(s) in Entrez
CoreMineERCC2
iHOPERCC2
OncoSearchERCC2

Bibliography

The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.
Lehmann AR
Genes & development. 2001 ; 15 (1) : 15-23.
PMID 11156600
 
XPD/ERCC2 polymorphisms and risk of head and neck cancer: a case-control analysis.
Sturgis EM, Zheng R, Li L, Castillo EJ, Eicher SA, Chen M, Strom SS, Spitz MR, Wei Q
Carcinogenesis. 2000 ; 21 (12) : 2219-2223.
PMID 11133811
 
Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder.
Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM
Nature genetics. 2000 ; 26 (3) : 307-313.
PMID 11062469
 
DNA repair capacity: inconsistency between effect of over-expression of five NER genes and the correlation to mRNA levels in primary lymphocytes.
Vogel U, Dybdahl M, Frentz G, Nexo BA
Mutation research. 2000 ; 461 (3) : 197-210.
PMID 11056291
 
Molecular structure of human TFIIH.
Schultz P, Fribourg S, Poterszman A, Mallouh V, Moras D, Egly JM
Cell. 2000 ; 102 (5) : 599-607.
PMID 11007478
 
Activation of estrogen receptor alpha by S118 phosphorylation involves a ligand-dependent interaction with TFIIH and participation of CDK7.
Chen D, Riedl T, Washbrook E, Pace PE, Coombes RC, Egly JM, Ali S
Molecular cell. 2000 ; 6 (1) : 127-137.
PMID 10949034
 
p44/SSL1, the regulatory subunit of the XPD/RAD3 helicase, plays a crucial role in the transcriptional activity of TFIIH.
Seroz T, Perez C, Bergmann E, Bradsher J, Egly JM
The Journal of biological chemistry. 2000 ; 275 (43) : 33260-33266.
PMID 10924514
 
Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome.
Le Page F, Kwoh EE, Avrutskaya A, Gentil A, Leadon SA, Sarasin A, Cooper PK
Cell. 2000 ; 101 (2) : 159-171.
PMID 10786832
 
UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome.
Berneburg M, Lowe JE, Nardo T, Arajo S, Fousteri MI, Green MH, Krutmann J, Wood RD, Stefanini M, Lehmann AR
The EMBO journal. 2000 ; 19 (5) : 1157-1166.
PMID 10698956
 
Nucleotide excision repair of DNA with recombinant human proteins: definition of the minimal set of factors, active forms of TFIIH, and modulation by CAK.
Arajo SJ, Tirode F, Coin F, Pospiech H, Syvoja JE, Stucki M, Hbscher U, Egly JM, Wood RD
Genes & development. 2000 ; 14 (3) : 349-359.
PMID 10673506
 
The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect.
Berneburg M, Clingen PH, Harcourt SA, Lowe JE, Taylor EM, Green MH, Krutmann J, Arlett CF, Lehmann AR
Cancer research. 2000 ; 60 (2) : 431-438.
PMID 10667598
 
TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair.
Winkler GS, Arajo SJ, Fiedler U, Vermeulen W, Coin F, Egly JM, Hoeijmakers JH, Wood RD, Timmers HT, Weeda G
The Journal of biological chemistry. 2000 ; 275 (6) : 4258-4266.
PMID 10660593
 
Distinct roles for the helicases of TFIIH in transcript initiation and promoter escape.
Bradsher J, Coin F, Egly JM
The Journal of biological chemistry. 2000 ; 275 (4) : 2532-2538.
PMID 10644710
 
[Trichothiodystrophy: progresssive manifestations]
Foulc P, Jumbou O, David A, Sarasin A, Stalder JF
Annales de dermatologie et de venereologie. 1999 ; 126 (10) : 703-707.
PMID 10604009
 
[Trichothiodystrophies: anomalies of the repair and transcription of genes]
Robert C, Sarasin A
Annales de dermatologie et de venereologie. 1999 ; 126 (10) : 669-671.
PMID 10604001
 
A role for the TFIIH XPB DNA helicase in promoter escape by RNA polymerase II.
Moreland RJ, Tirode F, Yan Q, Conaway JW, Egly JM, Conaway RC
The Journal of biological chemistry. 1999 ; 274 (32) : 22127-22130.
PMID 10428772
 
Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.
de Boer J, van Steeg H, Berg RJ, Garssen J, de Wit J, van Oostrum CT, Beems RB, van der Horst GT, van Kreijl CF, de Gruijl FR, Bootsma D, Hoeijmakers JH, Weeda G
Cancer research. 1999 ; 59 (14) : 3489-3494.
PMID 10416615
 
Cells from XP-D and XP-D-CS patients exhibit equally inefficient repair of UV-induced damage in transcribed genes but different capacity to recover UV-inhibited transcription.
van Hoffen A, Kalle WH, de Jong-Versteeg A, Lehmann AR, van Zeeland AA, Mullenders LH
Nucleic acids research. 1999 ; 27 (14) : 2898-2904.
PMID 10390531
 
Differential behaviors toward ultraviolet A and B radiation of fibroblasts and keratinocytes from normal and DNA-repair-deficient patients.
Otto AI, Riou L, Marionnet C, Mori T, Sarasin A, Magnaldo T
Cancer research. 1999 ; 59 (6) : 1212-1218.
PMID 10096550
 
Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH.
Coin F, Bergmann E, Tremeau-Bravard A, Egly JM
The EMBO journal. 1999 ; 18 (5) : 1357-1366.
PMID 10064601
 
Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7.
Tirode F, Busso D, Coin F, Egly JM
Molecular cell. 1999 ; 3 (1) : 87-95.
PMID 10024882
 
Recovery of the normal p53 response after UV treatment in DNA repair-deficient fibroblasts by retroviral-mediated correction with the XPD gene.
Dumaz N, Drougard C, Quilliet X, Mezzina M, Sarasin A, Daya-Grosjean L
Carcinogenesis. 1998 ; 19 (9) : 1701-1704.
PMID 9771945
 
Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.
Coin F, Marinoni JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM
Nature genetics. 1998 ; 20 (2) : 184-188.
PMID 9771713
 
From a DNA helicase to brittle hair.
Winkler GS, Hoeijmakers JH
Nature genetics. 1998 ; 20 (2) : 106-107.
PMID 9771695
 
Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.
Botta E, Nardo T, Broughton BC, Marinoni S, Lehmann AR, Stefanini M
American journal of human genetics. 1998 ; 63 (4) : 1036-1048.
PMID 9758621
 
Expression of DNA excision-repair-cross-complementing proteins p80 and p89 in brain of patients with Down Syndrome and Alzheimer's disease.
Hermon M, Cairns N, Egly JM, Fery A, Labudova O, Lubec G
Neuroscience letters. 1998 ; 251 (1) : 45-48.
PMID 9714461
 
Hair today, gone tomorrow: transgenic mice with human repair deficient hair disease.
Cleaver JE
Cell. 1998 ; 93 (7) : 1099-1102.
PMID 9657142
 
A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy.
de Boer J, de Wit J, van Steeg H, Berg RJ, Morreau H, Visser P, Lehmann AR, Duran M, Hoeijmakers JH, Weeda G
Molecular cell. 1998 ; 1 (7) : 981-990.
PMID 9651581
 
Cyclobutane pyrimidine dimers are the main mutagenic DNA photoproducts in DNA repair-deficient trichothiodystrophy cells.
Marionnet C, Armier J, Sarasin A, Stary A
Cancer research. 1998 ; 58 (1) : 102-108.
PMID 9426065
 
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 JH, Weeda G
Cancer research. 1998 ; 58 (1) : 89-94.
PMID 9426063
 
Retroviral-mediated correction of DNA repair defect in xeroderma pigmentosum cells is associated with recovery of catalase activity.
Quilliet X, Chevallier-Lagente O, Zeng L, Calvayrac R, Mezzina M, Sarasin A, Vuillaume M
Mutation research. 1997 ; 385 (3) : 235-242.
PMID 9506892
 
Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C.
Zeng L, Quilliet X, Chevallier-Lagente O, Eveno E, Sarasin A, Mezzina M
Gene therapy. 1997 ; 4 (10) : 1077-1084.
PMID 9415314
 
Prolonged p53 protein accumulation in trichothiodystrophy fibroblasts dependent on unrepaired pyrimidine dimers on the transcribed strands of cellular genes.
Dumaz N, Duthu A, Ehrhart JC, Drougard C, Appella E, Anderson CW, May P, Sarasin A, Daya-Grosjean L
Molecular carcinogenesis. 1997 ; 20 (4) : 340-347.
PMID 9433478
 
Competent transcription initiation by RNA polymerase II in cell-free extracts from xeroderma pigmentosum groups B and D in an optimized RNA transcription assay.
Satoh MS, Hanawalt PC
Biochimica et biophysica acta. 1997 ; 1354 (3) : 241-251.
PMID 9427533
 
Mechanism of open complex and dual incision formation by human nucleotide excision repair factors.
Evans E, Moggs JG, Hwang JR, Egly JM, Wood RD
The EMBO journal. 1997 ; 16 (21) : 6559-6573.
PMID 9351836
 
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
 
Sequence-specific and domain-specific DNA repair in xeroderma pigmentosum and Cockayne syndrome cells.
Tu Y, Bates S, Pfeifer GP
The Journal of biological chemistry. 1997 ; 272 (33) : 20747-20755.
PMID 9252397
 
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR
Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (16) : 8658-8663.
PMID 9238033
 
Photocarcinogenesis and inhibition of intercellular adhesion molecule 1 expression in cells of DNA-repair-defective individuals.
Ahrens C, Grewe M, Berneburg M, Grether-Beck S, Quilliet X, Mezzina M, Sarasin A, Lehmann AR, Arlett CF, Krutmann J
Proceedings of the National Academy of Sciences of the United States of America. 1997 ; 94 (13) : 6837-6841.
PMID 9192652
 
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
Weeda G, Eveno E, Donker I, Vermeulen W, Chevallier-Lagente O, Taeb A, Stary A, Hoeijmakers JH, Mezzina M, Sarasin A
American journal of human genetics. 1997 ; 60 (2) : 320-329.
PMID 9012405
 
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.
Takayama K, Danks DM, Salazar EP, Cleaver JE, Weber CA
Human mutation. 1997 ; 9 (6) : 519-525.
PMID 9195225
 
Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
Kobayashi T, Kuraoka I, Saijo M, Nakatsu Y, Tanaka A, Someda Y, Fukuro S, Tanaka K
Human mutation. 1997 ; 9 (4) : 322-331.
PMID 9101292
 
Quantitation of ERCC-2 gene expression in human tumor cell lines by reverse transcription-polymerase chain reaction in comparison to northern blot analysis.
Chen ZP, Malapetsa A, Mohr G, Brien S, Panasci LC
Analytical biochemistry. 1997 ; 244 (1) : 50-54.
PMID 9025907
 
Long-term complementation of DNA repair deficient human primary fibroblasts by retroviral transduction of the XPD gene.
Quilliet X, Chevallier-Lagente O, Eveno E, Stojkovic T, Deste A, Sarasin A, Mezzina M
Mutation research. 1996 ; 364 (3) : 161-169.
PMID 8960128
 
Recovery of normal DNA repair and mutagenesis in trichothiodystrophy cells after transduction of the XPD human gene.
Marionnet C, Quilliet X, Benoit A, Armier J, Sarasin A, Stary A
Cancer research. 1996 ; 56 (23) : 5450-5456.
PMID 8968100
 
Hepatitis B virus transactivator protein, HBx, associates with the components of TFIIH and stimulates the DNA helicase activity of TFIIH.
Qadri I, Conaway JW, Conaway RC, Schaack J, Siddiqui A
Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (20) : 10578-10583.
PMID 8855220
 
Human cyclin-dependent kinase-activating kinase exists in three distinct complexes.
Drapkin R, Le Roy G, Cho H, Akoulitchev S, Reinberg D
Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (13) : 6488-6493.
PMID 8692842
 
Isolation and characterization of two human transcription factor IIH (TFIIH)-related complexes: ERCC2/CAK and TFIIH.
Reardon JT, Ge H, Gibbs E, Sancar A, Hurwitz J, Pan ZQ
Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (13) : 6482-6487.
PMID 8692841
 
Sequence analysis of the ERCC2 gene regions in human, mouse, and hamster reveals three linked genes.
Lamerdin JE, Stilwagen SA, Ramirez MH, Stubbs L, Carrano AV
Genomics. 1996 ; 34 (3) : 399-409.
PMID 8786141
 
The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway.
Wang XW, Vermeulen W, Coursen JD, Gibson M, Lupold SE, Forrester K, Xu G, Elmore L, Yeh H, Hoeijmakers JH, Harris CC
Genes & development. 1996 ; 10 (10) : 1219-1232.
PMID 8675009
 
Functional interactions between p53 and the TFIIH complex are affected by tumour-associated mutations.
Lveillard T, Andera L, Bissonnette N, Schaeffer L, Bracco L, Egly JM, Wasylyk B
The EMBO journal. 1996 ; 15 (7) : 1615-1624.
PMID 8612585
 
Five polymorphisms in the coding sequence of the xeroderma pigmentosum group D gene.
Broughton BC, Steingrimsdottir H, Lehmann AR
Mutation research. 1996 ; 362 (2) : 209-211.
PMID 8596540
 
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
Takayama K, Salazar EP, Broughton BC, Lehmann AR, Sarasin A, Thompson LH, Weber CA
American journal of human genetics. 1996 ; 58 (2) : 263-270.
PMID 8571952
 
Abrogation of p53-induced apoptosis by the hepatitis B virus X gene.
Wang XW, Gibson MK, Vermeulen W, Yeh H, Forrester K, Strzbecher HW, Hoeijmakers JH, Harris CC
Cancer research. 1995 ; 55 (24) : 6012-6016.
PMID 8521383
 
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
Takayama K, Salazar EP, Lehmann A, Stefanini M, Thompson LH, Weber CA
Cancer research. 1995 ; 55 (23) : 5656-5663.
PMID 7585650
 
Detection of nucleotide excision repair incisions in human fibroblasts by immunostaining for PCNA.
Aboussekhra A, Wood RD
Experimental cell research. 1995 ; 221 (2) : 326-332.
PMID 7493631
 
Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells.
Marionnet C, Benoit A, Benhamou S, Sarasin A, Stary A
Journal of molecular biology. 1995 ; 252 (5) : 550-562.
PMID 7563073
 
Functional retroviral vector for gene therapy of xeroderma pigmentosum group D patients.
Carreau M, Quilliet X, Eveno E, Salvetti A, Danos O, Heard JM, Mezzina M, Sarasin A
Human gene therapy. 1995 ; 6 (10) : 1307-1315.
PMID 8590735
 
Lethality in yeast of trichothiodystrophy (TTD) mutations in the human xeroderma pigmentosum group D gene. Implications for transcriptional defect in TTD.
Guzder SN, Sung P, Prakash S, Prakash L
The Journal of biological chemistry. 1995 ; 270 (30) : 17660-17663.
PMID 7629061
 
p53 modulation of TFIIH-associated nucleotide excision repair activity.
Wang XW, Yeh H, Schaeffer L, Roy R, Moncollin V, Egly JM, Wang Z, Freidberg EC, Evans MK, Taffe BG
Nature genetics. 1995 ; 10 (2) : 188-195.
PMID 7663514
 
TFIIH: a link between transcription, DNA repair and cell cycle regulation.
Seroz T, Hwang JR, Moncollin V, Egly JM
Current opinion in genetics & development. 1995 ; 5 (2) : 217-221.
PMID 7613092
 
Mammalian DNA nucleotide excision repair reconstituted with purified protein components.
Aboussekhra A, Biggerstaff M, Shivji MK, Vilpo JA, Moncollin V, Podust VN, Proti M, Hbscher U, Egly JM, Wood RD
Cell. 1995 ; 80 (6) : 859-868.
PMID 7697716
 
Stable SV40-transformation and characterisation of some DNA repair properties of fibroblasts from a trichothiodystrophy patient.
Eveno E, Quilliet X, Chevallier-Lagente O, Daya-Grosjean L, Stary A, Zeng L, Benoit A, Savini E, Ciarrocchi G, Kannouche P
Biochimie. 1995 ; 77 (11) : 906-912.
PMID 8824772
 
Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
Broughton BC, Thompson AF, Harcourt SA, Vermeulen W, Hoeijmakers JH, Botta E, Stefanini M, King MD, Weber CA, Cole J
American journal of human genetics. 1995 ; 56 (1) : 167-174.
PMID 7825573
 
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
Frederick GD, Amirkhan RH, Schultz RA, Friedberg EC
Human molecular genetics. 1994 ; 3 (10) : 1783-1788.
PMID 7849702
 
Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.
Mezzina M, Eveno E, Chevallier-Lagente O, Benoit A, Carreau M, Vermeulen W, Hoeijmakers JH, Stefanini M, Lehmann AR, Weber CA
Carcinogenesis. 1994 ; 15 (8) : 1493-1498.
PMID 8055625
 
Molecular analysis of CXPD mutations in the repair-deficient hamster mutants UV5 and UVL-13.
Weber CA, Kirchner JM, Salazar EP, Takayama K
Mutation research. 1994 ; 324 (4) : 147-152.
PMID 8052270
 
The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersensitivity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells.
Gzkara EM, Parris CN, Weber CA, Salazar EP, Seidman MM, Watkins JF, Prakash L, Kraemer KH
Cancer research. 1994 ; 54 (14) : 3837-3844.
PMID 8033104
 
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.
Broughton BC, Steingrimsdottir H, Weber CA, Lehmann AR
Nature genetics. 1994 ; 7 (2) : 189-194.
PMID 7920640
 
The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor.
Schaeffer L, Moncollin V, Roy R, Staub A, Mezzina M, Sarasin A, Weeda G, Hoeijmakers JH, Egly JM
The EMBO journal. 1994 ; 13 (10) : 2388-2392.
PMID 8194528
 
Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II.
Drapkin R, Reardon JT, Ansari A, Huang JC, Zawel L, Ahn K, Sancar A, Reinberg D
Nature. 1994 ; 368 (6473) : 769-772.
PMID 8152490
 
Transcription factor b (TFIIH) is required during nucleotide-excision repair in yeast.
Wang Z, Svejstrup JQ, Feaver WJ, Wu X, Kornberg RD, Friedberg EC
Nature. 1994 ; 368 (6466) : 74-76.
PMID 8107888
 
Molecular analysis of the XP-D gene in Italian families with patients affected by trichothiodystrophy and xeroderma pigmentosum group D.
Mondello C, Nardo T, Giliani S, Arrand JE, Weber CA, Lehmann AR, Nuzzo F, Stefanini M
Mutation research. 1994 ; 314 (2) : 159-165.
PMID 7510365
 
DNA repair gene RAD3 of S. cerevisiae is essential for transcription by RNA polymerase II.
Guzder SN, Qiu H, Sommers CH, Sung P, Prakash L, Prakash S
Nature. 1994 ; 367 (6458) : 91-94.
PMID 8107780
 
Human xeroderma pigmentosum group D gene encodes a DNA helicase.
Sung P, Bailly V, Weber C, Thompson LH, Prakash L, Prakash S
Nature. 1993 ; 365 (6449) : 852-855.
PMID 8413672
 
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.
Stefanini M, Vermeulen W, Weeda G, Giliani S, Nardo T, Mezzina M, Sarasin A, Harper JI, Arlett CF, Hoeijmakers JH
American journal of human genetics. 1993 ; 53 (4) : 817-821.
PMID 8213812
 
UV-induced mutations in a shuttle vector replicated in repair deficient trichothiodystrophy cells differ with those in genetically-related cancer prone xeroderma pigmentosum.
Madzak C, Armier J, Stary A, Daya-Grosjean L, Sarasin A
Carcinogenesis. 1993 ; 14 (7) : 1255-1260.
PMID 8392442
 
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
Stefanini M, Lagomarsini P, Giliani S, Nardo T, Botta E, Peserico A, Kleijer WJ, Lehmann AR, Sarasin A
Carcinogenesis. 1993 ; 14 (6) : 1101-1105.
PMID 8508495
 
Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy.
Mariani E, Facchini A, Honorati MC, Lalli E, Berardesca E, Ghetti P, Marinoni S, Nuzzo F, Astaldi Ricotti GC, Stefanini M
Clinical and experimental immunology. 1992 ; 88 (3) : 376-382.
PMID 1535035
 
DNA repair investigations in nine Italian patients affected by trichothiodystrophy.
Stefanini M, Giliani S, Nardo T, Marinoni S, Nazzaro V, Rizzo R, Trevisan G
Mutation research. 1992 ; 273 (2) : 119-125.
PMID 1372095
 
Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene.
Flejter WL, McDaniel LD, Johns D, Friedberg EC, Schultz RA
Proceedings of the National Academy of Sciences of the United States of America. 1992 ; 89 (1) : 261-265.
PMID 1729695
 
ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3.
Weber CA, Salazar EP, Stewart SA, Thompson LH
The EMBO journal. 1990 ; 9 (5) : 1437-1447.
PMID 2184031
 
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Written02-2001Anne Stary and Alain Sarasin
Laboratory of Genetic Instability and Cancer, UPR2169 CNRS, Institut de Recherches sur le Cancer, 7, rue guy Moquet, BP 8, 94801 VILLEJUIF, France

Citation

This paper should be referenced as such :
Stary, A ; Sarasin, A
ERCC2 (excision repair cross-complementing rodent repair deficiency, complementation group 2)
Atlas Genet Cytogenet Oncol Haematol. 2001;5(2):83-87.
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URL : http://AtlasGeneticsOncology.org/Genes/XPDID297.html

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