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
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
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