The V(D)J recombination defect in the xrs-6 cell line results from a point mutation in the Ku80 gene

被引：25
作者：
Mizuta, R
Taccioli, GE
Alt, FW
机构：
[1] CHILDRENS HOSP,HOWARD HUGHES MED INST,BOSTON,MA 02115
[2] HARVARD UNIV,SCH MED,DEPT GENET,BOSTON,MA 02115
[3] CTR BLOOD RES,BOSTON,MA 02115
来源：
INTERNATIONAL IMMUNOLOGY | 1996年 / 8卷 / 09期
关键词：
double-strand DNA break repair; DNA-dependent protein kinase; RAG-1; RAG-2; XRCC5;
D O I：
10.1093/intimm/8.9.1467
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
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 a Ku80 transcript that cannot encode a functional product due a 13 nucleotide insertion and a resulting frameshift.
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收藏
页码：1467 / 1471
页数：5
相关论文
共 24 条
[1]   VDJ RECOMBINATION [J].
ALT, FW ;
OLTZ, EM ;
YOUNG, F ;
GORMAN, J ;
TACCIOLI, G ;
CHEN, J .
IMMUNOLOGY TODAY, 1992, 13 (08) :306-314
[2]  
Ausubel F.M., 1992, SHORT PROTOCOLS MOL, V2nd
[3]   DEFECTIVE DNA-DEPENDENT PROTEIN-KINASE ACTIVITY IS LINKED TO V(D)J RECOMBINATION AND DNA-REPAIR DEFECTS ASSOCIATED WITH THE MURINE SCID MUTATION [J].
BLUNT, T ;
FINNIE, NJ ;
TACCIOLI, GE ;
SMITH, GCM ;
DEMENGEOT, J ;
GOTTLIEB, TM ;
MIZUTA, R ;
VARGHESE, AJ ;
ALT, FW ;
JEGGO, PA ;
JACKSON, SP .
CELL, 1995, 80 (05) :813-823
[4]   COMPLEMENTATION OF THE IONIZING-RADIATION SENSITIVITY, DNA END BINDING, AND V(D)J RECOMBINATION DEFECTS OF DOUBLE-STRAND BREAK REPAIR MUTANTS BY THE P86 KU AUTOANTIGEN [J].
BOUBNOV, NV ;
HALL, KT ;
WILLS, Z ;
LEE, SE ;
HE, DM ;
BENJAMIN, DM ;
PULASKI, CR ;
BAND, H ;
REEVES, W ;
HENDRICKSON, EA ;
WEAVER, DT .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (03) :890-894
[5]   Initiation of V(D)J recombination in vitro obeying the 12/23 rule [J].
Eastman, QM ;
Leu, TMJ ;
Schatz, DG .
NATURE, 1996, 380 (6569) :85-88
[6]  
FRIEDBERG EC, 1995, DNA REPAIR MUTAGENES, P511
[7]   STEPS ALONG THE PATHWAY OF V(D)J RECOMBINATION [J].
GELLERT, M ;
MCBLANE, JF .
PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY OF LONDON SERIES B-BIOLOGICAL SCIENCES, 1995, 347 (1319) :43-47
[8]   A HUMAN BETA-ACTIN EXPRESSION VECTOR SYSTEM DIRECTS HIGH-LEVEL ACCUMULATION OF ANTISENSE TRANSCRIPTS [J].
GUNNING, P ;
LEAVITT, J ;
MUSCAT, G ;
NG, SY ;
KEDES, L .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1987, 84 (14) :4831-4835
[9]  
HOLLIDAY R, 1990, New Biologist, V2, P719
[10]   X-RAY-SENSITIVE MUTANTS OF CHINESE-HAMSTER OVARY CELL-LINE - ISOLATION AND CROSS-SENSITIVITY TO OTHER DNA-DAMAGING AGENTS [J].
JEGGO, PA ;
KEMP, LM .
MUTATION RESEARCH, 1983, 112 (06) :313-327
123