Download Gene Section XPC (xeroderma pigmentosum, complementation group C) Atlas of Genetics and Cytogenetics

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Gene Section
Review
XPC (xeroderma pigmentosum, complementation
group C)
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/XPCID122.html
DOI: 10.4267/2042/37724
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
Repair (NER) repair capacity, but the residual repair
has been shown to occur specifically in transcribed
genes. It is very likely that the XPC-HR23B complex is
the principal damage recognition complex i.e. essential
for the recognition of DNA lesions in the genome.
Binding of XPC-HR23B to a DNA lesion causes local
unwinding, so that the XPA protein can bind and the
whole repair machinery can be loaded onto the
damaged site. The XPC-HR23B complex is only
required for global genome repair. In case of
transcription coupled repair when an RNA polymerase
is stalled at a lesion, the DNA is unwound by the
transcription complex and XPA can bind independently
of XPC-HR23B complex.
Identity
Other names: XPCC xeroderma
complementation group C
HGNC (Hugo): XPC
Location : 3p25.1
pigmentosum,
DNA/RNA
Description
17703 bp; 16 exons.
Transcription
3558 b mRNA.
Homology
Protein
MGI : Xpc (Nb 103557).
Description
Mutations
939 amino acids.
Germinal
Expression
19 mutated sites involved in the XP group C syndrome
(XPC), 95% of these mutations (non sense, frameshift,
deletion or splice site mutations) give rise to truncated
proteins indicating that the XPC gene is not essential
for viability.
Ubiquitous.
Localisation
Nuclear.
Function
Implicated in
Involved in the early recognition of DNA damage
present in chromatine. Two proteins have been
identified and implicated in (one of) the first steps of
NER, i.e. the recognition of lesions in the DNA: the
XPA gene product and the XPC gene product in
complex with HR23B. This XPC-HR23B complex has
been implicated in DNA damage recognition,
especially the cyclobutane pyrimidine dimers induced
by UV-light. XPC cells have low Nucleotide Excision
Atlas Genet Cytogenet Oncol Haematol. 2001; 5(2)
Xeroderma pigmentosum XPC
Disease
Predisposition to skin cancer: early skin tumours.
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XPC (xeroderma pigmentosum, complementation group C)
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This article should be referenced as such:
Stary A, Sarasin A. XPC (xeroderma pigmentosum,
complementation group C). Atlas Genet Cytogenet Oncol
Haematol. 2001; 5(2):103-105.
Chavanne F, Broughton BC, Pietra D, Nardo T, Browitt A,
Lehmann AR, Stefanini M. Mutations in the XPC gene in
Atlas Genet Cytogenet Oncol Haematol. 2001; 5(2)
105