Download Gene Section ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Gene Section
Review
ERCC6 (excision repair cross-complementing
rodent repair deficiency, complementation group
6)
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: September 2001
Online updated version : http://AtlasGeneticsOncology.org/Genes/CSBID302.html
DOI: 10.4267/2042/37806
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2002 Atlas of Genetics and Cytogenetics in Oncology and Haematology
preferential repair of active genes. The CSB gene
product is recruited to RNA polymerase II complexes
and enhances elongation on an undamaged template by
a factor of about three.
Identity
Other names: CSB (Cockayne syndrome B); CKN2
HGNC (Hugo): ERCC6
Location: 10q11-10q21
Mutations
Germinal
13 base substitutions; 4 small deletions; 3 small
insertions; 2 gross rearrangements.
Implicated in
Cockayne syndrome, CS group B
Note: See also the paper on Nucleotide Excision
Repair.
Disease
The Cockayne syndrome B is characterized by
sensitivity to sunlight, dwarfism, precociously senile
appearance, pigmentary retinal degeneration, optic
atrophy and deafness.
DNA/RNA
References
Transcription
Venema J, Mullenders LH, Natarajan AT, van Zeeland AA,
Mayne LV. The genetic defect in Cockayne syndrome is
associated with a defect in repair of UV-induced DNA damage
in transcriptionally active DNA. Proc Natl Acad Sci U S A. 1990
Jun;87(12):4707-11
ERCC6 (10q11-10q21) - Courtesy Mariano Rocchi, Resources
for Molecular Cytogenetics.
4714 b.
Protein
Troelstra C, van Gool A, de Wit J, Vermeulen W, Bootsma D,
Hoeijmakers JH. ERCC6, a member of a subfamily of putative
helicases, is involved in Cockayne's syndrome and preferential
repair of active genes. Cell. 1992 Dec 11;71(6):939-53
Description
1493 amino acids; 168415 Da.
Function
Troelstra C, Hesen W, Bootsma D, Hoeijmakers JH. Structure
and expression of the excision repair gene ERCC6, involved in
the human disorder Cockayne's syndrome group B. Nucleic
Acids Res. 1993 Feb 11;21(3):419-26
The Cockayne syndrome B (CSB) gene encodes for a
DNA-dependent ATPase which is involved in the
Atlas Genet Cytogenet Oncol Haematol. 2002; 6(1)
8
ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)
Cleaver JE, Volpe JP, Charles WC, Thomas GH. Prenatal
diagnosis of xeroderma pigmentosum and Cockayne
syndrome. Prenat Diagn. 1994 Oct;14(10):921-8
with Cockayne
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Am
J
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1998
Tantin D. RNA polymerase II elongation complexes containing
the Cockayne syndrome group B protein interact with a
molecular complex containing the transcription factor IIH
components xeroderma pigmentosum B and p62. J Biol Chem.
1998 Oct 23;273(43):27794-9
van Gool AJ, Verhage R, Swagemakers SM, van de Putte P,
Brouwer J, Troelstra C, Bootsma D, Hoeijmakers JH. RAD26,
the functional S. cerevisiae homolog of the Cockayne
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Sarasin A. Development of a new easy complementation
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repair genes. Carcinogenesis. 1995 May;16(5):1003-9
Brosh RM Jr, Balajee AS, Selzer RR, Sunesen M, Proietti De
Santis L, Bohr VA. The ATPase domain but not the acidic
region of Cockayne syndrome group B gene product is
essential for DNA repair. Mol Biol Cell. 1999 Nov;10(11):358394
Bregman DB, Halaban R, van Gool AJ, Henning KA, Friedberg
EC, Warren SL. UV-induced ubiquitination of RNA polymerase
II: a novel modification deficient in Cockayne syndrome cells.
Proc Natl Acad Sci U S A. 1996 Oct 15;93(21):11586-90
Colella S, Nardo T, Mallery D, Borrone C, Ricci R, Ruffa G,
Lehmann AR, Stefanini M. Alterations in the CSB gene in three
Italian patients with the severe form of Cockayne syndrome
(CS) but without clinical photosensitivity. Hum Mol Genet. 1999
May;8(5):935-41
Orren DK, Dianov GL, Bohr VA. The human CSB (ERCC6)
gene corrects the transcription-coupled repair defect in the
CHO cell mutant UV61. Nucleic Acids Res. 1996 Sep
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Dianov G, Bischoff C, Sunesen M, Bohr VA. Repair of 8oxoguanine in DNA is deficient in Cockayne syndrome group B
cells. Nucleic Acids Res. 1999 Mar 1;27(5):1365-8
Stefanini M, Fawcett H, Botta E, Nardo T, Lehmann AR.
Genetic analysis of twenty-two patients with Cockayne
syndrome. Hum Genet. 1996 Apr;97(4):418-23
Le Page F, Gentil A, Sarasin A. Repair and mutagenesis
survey of 8-hydroxyguanine in bacteria and human cells.
Biochimie. 1999 Jan-Feb;81(1-2):147-53
van Oosterwijk MF, Versteeg A, Filon R, van Zeeland AA,
Mullenders LH. The sensitivity of Cockayne's syndrome cells to
DNA-damaging agents is not due to defective transcriptioncoupled repair of active genes. Mol Cell Biol. 1996
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Riou L, Zeng L, Chevallier-Lagente O, Stary A, Nikaido O,
Taïeb A, Weeda G, Mezzina M, Sarasin A. The relative
expression of mutated XPB genes results in xeroderma
pigmentosum/Cockayne's syndrome or trichothiodystrophy
cellular phenotypes. Hum Mol Genet. 1999 Jun;8(6):1125-33
Balajee AS, May A, Dianov GL, Friedberg EC, Bohr VA.
Reduced RNA polymerase II transcription in intact and
permeabilized Cockayne syndrome group B cells. Proc Natl
Acad Sci U S A. 1997 Apr 29;94(9):4306-11
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interferon-beta
in
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Dianov GL, Houle JF, Iyer N, Bohr VA, Friedberg EC. Reduced
RNA polymerase II transcription in extracts of cockayne
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cells. Nucleic Acids Res. 1997 Sep 15;25(18):3636-42
Balajee AS, Proietti De Santis L, Brosh RM Jr, Selzer R, Bohr
VA. Role of the ATPase domain of the Cockayne syndrome
group B protein in UV induced apoptosis. Oncogene. 2000 Jan
27;19(4):477-89
Sarasin A, Stary A. Human cancer and DNA repair-deficient
diseases. Cancer Detect Prev. 1997;21(5):406-11
Citterio E, Van Den Boom V, Schnitzler G, Kanaar R, Bonte E,
Kingston RE, Hoeijmakers JH, Vermeulen W. ATP-dependent
chromatin remodeling by the Cockayne syndrome B DNA
repair-transcription-coupling factor. Mol Cell Biol. 2000
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Selby CP, Sancar A. Cockayne syndrome group B protein
enhances elongation by RNA polymerase II. Proc Natl Acad
Sci U S A. 1997 Oct 14;94(21):11205-9
Tantin D, Kansal A, Carey M. Recruitment of the putative
transcription-repair coupling factor CSB/ERCC6 to RNA
polymerase II elongation complexes. Mol Cell Biol. 1997
Dec;17(12):6803-14
Conforti G, Nardo T, D'Incalci M, Stefanini M. Proneness to
UV-induced apoptosis in human fibroblasts defective in
transcription coupled repair is associated with the lack of
Mdm2 transactivation. Oncogene. 2000 May 18;19(22):271420
van der Horst GT, van Steeg H, Berg RJ, van Gool AJ, de Wit
J, Weeda G, Morreau H, Beems RB, van Kreijl CF, de Gruijl
FR, Bootsma D, Hoeijmakers JH. Defective transcriptioncoupled repair in Cockayne syndrome B mice is associated
with skin cancer predisposition. Cell. 1997 May 2;89(3):425-35
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GT, van Kranen H, van Loveren H, van Dijk M, Fluitman A,
Weeda G, Hoeijmakers JH. Transcription-coupled and global
genome repair differentially influence UV-B-induced acute skin
effects and systemic immunosuppression. J Immunol. 2000
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W, Constantinou A, Egly JM, Bootsma D, Hoeijmakers JH. The
Cockayne syndrome B protein, involved in transcriptioncoupled DNA repair, resides in an RNA polymerase IIcontaining complex. EMBO J. 1997 Oct 1;16(19):5955-65
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Sarasin A, Cooper PK. Transcription-coupled repair of 8oxoguanine: requirement for XPG, TFIIH, and CSB and
implications for Cockayne syndrome. Cell. 2000 Apr
14;101(2):159-71
Mallery DL, Tanganelli B, Colella S, Steingrimsdottir H, van
Gool AJ, Troelstra C, Stefanini M, Lehmann AR. Molecular
analysis of mutations in the CSB (ERCC6) gene in patients
Atlas Genet Cytogenet Oncol Haematol. 2002; 6(1)
syndrome.
Stary A, Sarasin A
9
ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)
Rockx DA, Mason R, van Hoffen A, Barton MC, Citterio E,
Bregman DB, van Zeeland AA, Vrieling H, Mullenders LH. UVinduced inhibition of transcription involves repression of
transcription initiation and phosphorylation of RNA polymerase
II. Proc Natl Acad Sci U S A. 2000 Sep 12;97(19):10503-8
Gregory SM, Sweder KS. Deletion of the CSB homolog,
RAD26, yields Spt(-) strains with proficient transcriptioncoupled repair. Nucleic Acids Res. 2001 Jul 15;29(14):3080-6
Karmakar P, Balajee AS, Natarajan AT. Analysis of repair and
PCNA complex formation induced by ionizing radiation in
human fibroblast cell lines. Mutagenesis. 2001 May;16(3):22532
Sunesen M, Selzer RR, Brosh RM Jr, Balajee AS, Stevnsner
T, Bohr VA. Molecular characterization of an acidic region
deletion mutant of Cockayne syndrome group B protein.
Nucleic Acids Res. 2000 Aug 15;28(16):3151-9
Lu Y, Lian H, Sharma P, Schreiber-Agus N, Russell RG, Chin
L, van der Horst GT, Bregman DB. Disruption of the Cockayne
syndrome B gene impairs spontaneous tumorigenesis in
cancer-predisposed Ink4a/ARF knockout mice. Mol Cell Biol.
2001 Mar;21(5):1810-8
van Oosten M, Rebel H, Friedberg EC, van Steeg H, van der
Horst GT, van Kranen HJ, Westerman A, van Zeeland AA,
Mullenders LH, de Gruijl FR. Differential role of transcriptioncoupled repair in UVB-induced G2 arrest and apoptosis in
mouse epidermis. Proc Natl Acad Sci U S A. 2000 Oct
10;97(21):11268-73
Luo Z, Zheng J, Lu Y, Bregman DB. Ultraviolet radiation alters
the phosphorylation of RNA polymerase II large subunit and
accelerates its proteasome-dependent degradation. Mutat Res.
2001 Sep 4;486(4):259-74
Wijnhoven SW, Kool HJ, van Oostrom CT, Beems RB,
Mullenders LH, van Zeeland AA, van der Horst GT, Vrieling H,
van Steeg H. The relationship between benzo[a]pyreneinduced mutagenesis and carcinogenesis in repair-deficient
Cockayne syndrome group B mice. Cancer Res. 2000 Oct
15;60(20):5681-7
McKay BC, Chen F, Clarke ST, Wiggin HE, Harley LM,
Ljungman M. UV light-induced degradation of RNA polymerase
II is dependent on the Cockayne's syndrome A and B proteins
but not p53 or MLH1. Mutat Res. 2001 Mar 7;485(2):93-105
Yu A, Fan HY, Liao D, Bailey AD, Weiner AM. Activation of p53
or loss of the Cockayne syndrome group B repair protein
causes metaphase fragility of human U1, U2, and 5S genes.
Mol Cell. 2000 May;5(5):801-10
Atlas Genet Cytogenet Oncol Haematol. 2002; 6(1)
Stary A, Sarasin A
This article should be referenced as such:
Stary A, Sarasin A. ERCC6 (excision repair crosscomplementing rodent repair deficiency, complementation
group 6). Atlas Genet Cytogenet Oncol Haematol. 2002;
6(1):8-10.
10