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

Identity

Other namesXPD
HGNC ERCC2
Location 19q13.2
Location_base_pair Starts at 50546686 and ends at 50565669 bp from pter ( according to hg18-Mar_2006).
 
  XPD (19q13) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics. Laboratories willing to validate the probes are welcome : contact rocchi@biologia.uniba.it

DNA/RNA

Description 54336 bp; 23 exons
Transcription 2400b mRNA

Protein

Description 760 amino acids
Expression ubiquitous
Localisation nuclear
Function 5Õ-3Õ 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 CockayneÕsyndrome) 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
HGNCERCC2   3434
Entrez_GeneERCC2  2068  excision repair cross-complementing rodent repair deficiency, complementation group 2
Cards
AtlasXPDID297
GeneCardsERCC2
EnsemblENSG00000104884 [Gene_View]  ERCC2 [Vega]
GenatlasERCC2
Genomic and cartography
GoldenPathERCC2  -  19q13.2   chr19:50546686-50565669 -  19q13.3   [Description]    (hg18-Mar_2006)
EnsemblERCC2 - 19q13.3 [CytoView]
NCBIMapview
OMIM126340 Disease map [OMIM]
OMIM278730 Disease map [OMIM]
OMIM601675 Disease map [OMIM]
OMIM610756 Disease map [OMIM]
HomoloGeneERCC2
Gene and transcription
GenbankAK092872 [ ENTREZ ]
GenbankAK130849 [ ENTREZ ]
GenbankBC008346 [ ENTREZ ]
GenbankBC108255 [ ENTREZ ]
GenbankBC110522 [ ENTREZ ]
RefSeqNM_000400 [ SRS ]    NM_000400 [ ENTREZ ]
RefSeqAC_000062 [ SRS ]    AC_000062 [ ENTREZ ]
RefSeqAC_000151 [ SRS ]    AC_000151 [ ENTREZ ]
RefSeqNC_000019 [ SRS ]    NC_000019 [ ENTREZ ]
RefSeqNG_007067 [ SRS ]    NG_007067 [ ENTREZ ]
RefSeqNT_011109 [ SRS ]    NT_011109 [ ENTREZ ]
RefSeqNW_001838496 [ SRS ]    NW_001838496 [ ENTREZ ]
RefSeqNW_927217 [ SRS ]    NW_927217 [ ENTREZ ]
CCDSERCC2 CCDS - NCBI
AceViewERCC2 AceView - NCBI
UnigeneHs.487294 [ SRS ]    Hs.487294 [ NCBI ]
Fast-db13356 (alternative variants)
Protein : pattern, domain, 3D structure
SwissProtP18074 [ SRS]    P18074 [ EXPASY ]     P18074 [ INTERPRO ]     P18074 [ UNIPROT ] P18074 [ VarSplice FASTA ]
PrositePS00690 DEAH_ATP_HELICASE [ SRS ]    PS00690 DEAH_ATP_HELICASE [ Expasy ]
PrositePS51193 HELICASE_ATP_BIND_2 [ SRS ]    PS51193 HELICASE_ATP_BIND_2 [ Expasy ]
InterproIPR010614 DEAD_2 [ SRS ]    IPR010614 DEAD_2 [ EBI ]
InterproIPR002464 DNA/RNA_helicase_DEAH_CS [ SRS ]    IPR002464 DNA/RNA_helicase_DEAH_CS [ EBI ]
InterproIPR013020 DNA_helicase_DNA-repair_Rad3 [ SRS ]    IPR013020 DNA_helicase_DNA-repair_Rad3 [ EBI ]
InterproIPR010643 DUF1227 [ SRS ]    IPR010643 DUF1227 [ EBI ]
InterproIPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3 [ SRS ]    IPR014013 Helic_SF1/SF2_ATP-bd_DinG/Rad3 [ EBI ]
InterproIPR006554 Helicase-like_DEXD_c2 [ SRS ]    IPR006554 Helicase-like_DEXD_c2 [ EBI ]
InterproIPR006555 Helicase_ATP-dep_c2 [ SRS ]    IPR006555 Helicase_ATP-dep_c2 [ EBI ]
InterproIPR001945 XPGD_DNA_repair [ SRS ]    IPR001945 XPGD_DNA_repair [ EBI ]
CluSTrP18074
PfamPF06733 DEAD_2 [ SRS ]    PF06733 DEAD_2 [ Sanger ]    pfam06733 [ NCBI-CDD ]
PfamPF06777 DUF1227 [ SRS ]    PF06777 DUF1227 [ Sanger ]    pfam06777 [ NCBI-CDD ]
SmartSM00488 DEXDc2 [EMBL]
SmartSM00491 HELICc2 [EMBL]
BlocksP18074
HPRD00530
Protein Interaction databases
DIPP18074
IntActP18074
Polymorphism : SNP, mutations, diseases
OMIM126340    [ map ]   
OMIM278730    [ map ]   
OMIM601675    [ map ]   
OMIM610756    [ map ]   
GENETests126340
GENETests278730
GENETests601675
GENETests610756
SNPERCC2 [dbSNP-NCBI]  
SNPNM_000400 [SNP-NCI]  
SNPERCC2 [GeneSNPs - Utah]  ERCC2] [HGBASE - SRS]
HAPMAPERCC2 [HAPMAP]  
COSMICERCC2 [Somatic mutation (COSMIC-CGP-Sanger)]  
HGMDERCC2
Genetic AssociationERCC2
CDC HuGEERCC2
General knowledge
Family BrowserERCC2 [UCSC Family Browser]
SOURCENM_000400
SMDHs.487294
SAGEHs.487294
Enzyme3.6.1.- [ Enzyme-Expasy ]   3.6.1.- [ Enzyme-SRS ]   3.6.1.- [ IntEnz-EBI ]   3.6.1.- [ BRENDA ]   3.6.1.- [ KEGG ]   
GOcell cycle checkpoint [Amigo]  cell cycle checkpoint
GOnucleotide binding [Amigo]  nucleotide binding
GOmagnesium ion binding [Amigo]  magnesium ion binding
GOnucleotide-excision repair, DNA damage removal [Amigo]  nucleotide-excision repair, DNA damage removal
GODNA binding [Amigo]  DNA binding
GOATP-dependent DNA helicase activity [Amigo]  ATP-dependent DNA helicase activity
GOATP binding [Amigo]  ATP binding
GOnucleus [Amigo]  nucleus
GOnucleoplasm [Amigo]  nucleoplasm
GOholo TFIIH complex [Amigo]  holo TFIIH complex
GOnucleobase, nucleoside, nucleotide and nucleic acid metabolic process [Amigo]  nucleobase, nucleoside, nucleotide and nucleic acid metabolic process
GOtranscription-coupled nucleotide-excision repair [Amigo]  transcription-coupled nucleotide-excision repair
GOnucleotide-excision repair [Amigo]  nucleotide-excision repair
GOtranscription [Amigo]  transcription
GOregulation of transcription, DNA-dependent [Amigo]  regulation of transcription, DNA-dependent
GOtranscription initiation from RNA polymerase II promoter [Amigo]  transcription initiation from RNA polymerase II promoter
GORNA elongation from RNA polymerase II promoter [Amigo]  RNA elongation from RNA polymerase II promoter
GOinduction of apoptosis [Amigo]  induction of apoptosis
GOresponse to oxidative stress [Amigo]  response to oxidative stress
GOsensory perception of sound [Amigo]  sensory perception of sound
GOprotein C-terminus binding [Amigo]  protein C-terminus binding
GOUV protection [Amigo]  UV protection
GOtranscription activator activity [Amigo]  transcription activator activity
GOhydrolase activity [Amigo]  hydrolase activity
GOhydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides [Amigo]  hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
GOcyclin-dependent protein kinase activating kinase holoenzyme complex [Amigo]  cyclin-dependent protein kinase activating kinase holoenzyme complex
GOnucleotide-excision repair, DNA incision [Amigo]  nucleotide-excision repair, DNA incision
GOhair cell differentiation [Amigo]  hair cell differentiation
GO5'-3' DNA helicase activity [Amigo]  5'-3' DNA helicase activity
GOpositive regulation of transcription from RNA polymerase II promoter [Amigo]  positive regulation of transcription from RNA polymerase II promoter
GOprotein N-terminus binding [Amigo]  protein N-terminus binding
KEGGStarch and sucrose metabolism
KEGGFolate biosynthesis
PubGeneERCC2
TreeFamERCC2
CTD2068 [Comparative ToxicoGenomics Database]
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
ProbeERCC2 Related clones (RZPD - Berlin)
PubMed
PubMed339 Pubmed reference(s) in Entrez

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, Araˆ†jo 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.
Araˆ†jo SJ, Tirode F, Coin F, Pospiech H, Syvˆ§oja JE, Stucki M, Hˆºbscher 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, Araˆ†jo 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, TaˆØeb 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, Destˆ©e 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.
Lˆ©veillard 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, Stˆºrzbecher 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.
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Contributor(s)

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. February 2001 .
URL : http://AtlasGeneticsOncology.org/Genes/XPDID297.html

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indexed on : Thu Nov 27 13:31:31 2008


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