Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage

Details

Serval ID
serval:BIB_1C7720A83D72
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage
Journal
Molecular and Cellular Biology
Author(s)
Thorel  F., Constantinou  A., Dunand-Sauthier  I., Nouspikel  T., Lalle  P., Raams  A., Jaspers  N. G., Vermeulen  W., Shivji  M. K., Wood  R. D., Clarkson  S. G.
ISSN
0270-7306 (Print)
Publication state
Published
Issued date
12/2004
Volume
24
Number
24
Pages
10670-80
Notes
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Dec
Abstract
XPG is the human endonuclease that cuts 3' to DNA lesions during nucleotide excision repair. Missense mutations in XPG can lead to xeroderma pigmentosum (XP), whereas truncated or unstable XPG proteins cause Cockayne syndrome (CS), normally yielding life spans of <7 years. One XP-G individual who had advanced XP/CS symptoms at 28 years has been identified. The genetic, biochemical, and cellular defects in this remarkable case provide insight into the onset of XP and CS, and they reveal a previously unrecognized property of XPG. Both of this individual's XPG alleles produce a severely truncated protein, but an infrequent alternative splice generates an XPG protein lacking seven internal amino acids, which can account for his very slight cellular UV resistance. Deletion of XPG amino acids 225 to 231 does not abolish structure-specific endonuclease activity. Instead, this region is essential for interaction with TFIIH and for the stable recruitment of XPG to sites of local UV damage after the prior recruitment of TFIIH. These results define a new functional domain of XPG, and they demonstrate that recruitment of DNA repair proteins to sites of damage does not necessarily lead to productive repair reactions. This observation has potential implications that extend beyond nucleotide excision repair.
Keywords
Alternative Splicing Amino Acid Sequence Cell Line Cell Line, Transformed Cell Transformation, Viral DNA Damage/*radiation effects DNA Mutational Analysis DNA Repair DNA-Binding Proteins/*chemistry/genetics/*metabolism Endonucleases/analysis/metabolism Fibroblasts/metabolism/radiation effects Fluorescent Antibody Technique, Indirect Frameshift Mutation Humans Immunoblotting Lentivirus/genetics Longevity Male Microscopy, Fluorescence Nuclear Proteins Precipitin Tests Protein Structure, Tertiary Recombinant Proteins/isolation & purification/metabolism Transcription Factor TFIIH Transcription Factors Transcription Factors, TFII/*metabolism *Ultraviolet Rays Xeroderma Pigmentosum/diagnosis/genetics/metabolism/pathology
Pubmed
Web of science
Open Access
Yes
Create date
24/01/2008 14:50
Last modification date
20/08/2019 12:52
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