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

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Gene Section
Review
ERCC2 (Excision repair cross-complementing
rodent repair deficiency, complementation group
2)
Anne Stary, 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 (AS, AS)
Published in Atlas Database: February 2001
Online updated version : http://AtlasGeneticsOncology.org/Genes/XPDID297.html
DOI: 10.4267/2042/37725
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2001 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Function
Identity
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.
Other names: XPD
HGNC (Hugo): ERCC2
Location: 19q13.2
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
Homology
Ubiquitous.
FLYBASE :Xpd ; MGI : Ercc2 (Nb 95413).
Localisation
Nuclear.
Atlas Genet Cytogenet Oncol Haematol. 2001; 5(2)
83
ERCC2 (Excision repair cross-complementing rodent repair deficiency, complementation group 2)
Stary A, Sarasin A
Mutations
repair and in transcription by RNA polymerase II. Nature. 1994
Apr 21;368(6473):769-72
Germinal
Frederick GD, Amirkhan RH, Schultz RA, Friedberg EC.
Structural and mutational analysis of the xeroderma
pigmentosum group D (XPD) gene. Hum Mol Genet. 1994
Oct;3(10):1783-8
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.
Gözükara EM, Parris CN, Weber CA, Salazar EP, Seidman
MM, Watkins JF, Prakash L, Kraemer KH. The human DNA
repair gene, ERCC2 (XPD), corrects ultraviolet hypersensitivity
and ultraviolet hypermutability of a shuttle vector replicated in
xeroderma pigmentosum group D cells. Cancer Res. 1994 Jul
15;54(14):3837-44
Implicated in
Guzder SN, Qiu H, Sommers CH, Sung P, Prakash L, Prakash
S. DNA repair gene RAD3 of S. cerevisiae is essential for
transcription by RNA polymerase II. Nature. 1994 Jan
6;367(6458):91-4
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).
Mezzina M, Eveno E, Chevallier-Lagente O, Benoit A, Carreau
M, Vermeulen W, Hoeijmakers JH, Stefanini M, Lehmann AR,
Weber CA. Correction by the ERCC2 gene of UV sensitivity
and repair deficiency phenotype in a subset of
trichothiodystrophy
cells.
Carcinogenesis.
1994
Aug;15(8):1493-8
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Winkler GS, Araújo SJ, Fiedler U, Vermeulen W, Coin F, Egly
JM, Hoeijmakers JH, Wood RD, Timmers HT, Weeda G. TFIIH
86
ERCC2 (Excision repair cross-complementing rodent repair deficiency, complementation group 2)
with inactive XPD helicase functions in transcription initiation
but is defective in DNA repair. J Biol Chem. 2000 Feb
11;275(6):4258-66
This article should be referenced as such:
Stary A, Sarasin A. ERCC2 (Excision repair crosscomplementing rodent repair deficiency, complementation
group 2). Atlas Genet Cytogenet Oncol Haematol. 2001;
5(2):83-87.
Lehmann AR. The xeroderma pigmentosum group D (XPD)
gene: one gene, two functions, three diseases. Genes Dev.
2001 Jan 1;15(1):15-23
Atlas Genet Cytogenet Oncol Haematol. 2001; 5(2)
Stary A, Sarasin A
87