title: The V(D)J recombination defect in the xrs-6 cell line results from a point mutation in the Ku80 gene.
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.
authors.affiliation: Howard Hughes Medical Institute, Children's Hospital, Boston, MA 02115, USA.
authors.forename: R
authors.initials: R
authors.lastname: Mizuta
authors.forename: G E
authors.initials: GE
authors.lastname: Taccioli
authors.forename: F W
authors.initials: FW
authors.lastname: Alt
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D034961:Antigens, Nuclear; D001483:Base Sequence; D016466:CHO Cells / Q000378:metabolism*; D006224:Cricetinae; D003412:Cricetulus / Q000235:genetics*; D004265:DNA Helicases; D004252:DNA Mutational Analysis; D004254:DNA Nucleotidyltransferases / Q000378:metabolism*; D004260:DNA Repair / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics* / Q000502:physiology; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D000072200:Ku Autoantigen; D008969:Molecular Sequence Data; D009687:Nuclear Proteins / Q000235:genetics* / Q000502:physiology; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011836:Radiation Tolerance / Q000235:genetics; D045567:VDJ Recombinases
chemical_list: D034961:Antigens, Nuclear; D018076:DNA, Complementary; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D004254:DNA Nucleotidyltransferases; D045567:VDJ Recombinases; D004265:DNA Helicases; C106893:XRCC5 protein, human; C000606509:Xrcc6 protein, human; D000072200:Ku Autoantigen