Abstract
Defective expression of the Ku80 gene has been implicated as underlying the V(D)J recombination and DNA double-strand break repair defects in the xrs-6 Chinese hamster ovary cell line. We now show that the mutation in the Ku80 gene involves a G to A transition 15 bp upstream of exon 2. This mutation creates a new splice acceptor site which results in the generation of Ku80 transcript that cannot encode a functional product due a 13 nucleotide insertion and a resulting frameshift.
Publication types
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Amino Acid Sequence
-
Animals
-
Antigens, Nuclear*
-
Base Sequence
-
CHO Cells / metabolism*
-
Cricetinae
-
Cricetulus / genetics*
-
DNA Helicases*
-
DNA Mutational Analysis
-
DNA Nucleotidyltransferases / metabolism*
-
DNA Repair / genetics
-
DNA, Complementary / genetics
-
DNA-Binding Proteins / genetics*
-
DNA-Binding Proteins / physiology
-
Female
-
Frameshift Mutation*
-
Humans
-
Ku Autoantigen
-
Molecular Sequence Data
-
Nuclear Proteins / genetics*
-
Nuclear Proteins / physiology
-
Point Mutation*
-
Polymerase Chain Reaction
-
Radiation Tolerance / genetics
-
VDJ Recombinases
Substances
-
Antigens, Nuclear
-
DNA, Complementary
-
DNA-Binding Proteins
-
Nuclear Proteins
-
DNA Nucleotidyltransferases
-
VDJ Recombinases
-
DNA Helicases
-
XRCC5 protein, human
-
Xrcc6 protein, human
-
Ku Autoantigen