UNUSUAL ORGANIZATION OF THE HUMAN T-CELL RECEPTOR BETA-CHAIN GENE-COMPLEX IS LINKED TO RECOMBINATION HOTSPOTS

被引:8
作者
SEBOUN, E [1 ]
HOUGHTON, L [1 ]
HATEM, CJ [1 ]
LINCOLN, R [1 ]
HAUSER, SL [1 ]
机构
[1] UNIV CALIF SAN FRANCISCO,DEPT NEUROL,SAN FRANCISCO,CA 94143
关键词
INSERTION; DELETION-RELATED POLYMORPHISM; TCRB LOCUS;
D O I
10.1073/pnas.90.11.5026
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Two rare Sfi I polymorphisms of 360 kb and 280 kb present within the human T-cell antigen receptor beta-chain gene complex were revealed by pulsed-field gel electrophoresis. They represent allelic variants of the polymorphic 330- and 300-kb Sfi I fragments previously described. The 360-kb polymorphism results from duplication of the 30-kb DNA fragment responsible for the 330/300-kb insertion/ deletion-related polymorphism. The 280-kb polymorphism results from a 20-kb deletion from the 300-kb Sfi I allele. The rare polymorphisms also map on either side of a Sal I site located near a recombination hotspot, suggesting that germ-line duplications and deletions arose from nonhomologous crossover events.
引用
收藏
页码:5026 / 5029
页数:4
相关论文
共 16 条
[1]  
BOTTARO A, 1991, AM J HUM GENET, V48, P745
[2]   HAPLOTYPING THE HUMAN T-CELL RECEPTOR BETA-CHAIN GENE-COMPLEX BY USE OF RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISMS [J].
CHARMLEY, P ;
CHAO, A ;
CONCANNON, P ;
HOOD, L ;
GATTI, RA .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (12) :4823-4827
[3]   HUMAN T-CELL RECEPTOR V-BETA GENE POLYMORPHISM [J].
CONCANNON, P ;
GATTI, RA ;
HOOD, LE .
JOURNAL OF EXPERIMENTAL MEDICINE, 1987, 165 (04) :1130-1140
[4]   A TECHNIQUE FOR RADIOLABELING DNA RESTRICTION ENDONUCLEASE FRAGMENTS TO HIGH SPECIFIC ACTIVITY [J].
FEINBERG, AP ;
VOGELSTEIN, B .
ANALYTICAL BIOCHEMISTRY, 1983, 132 (01) :6-13
[5]  
HUNKAPILLER T, 1989, ADV IMMUNOL, V44, P1
[6]   CONSERVED ORGANIZATION OF THE HUMAN AND MURINE T-CELL RECEPTOR BETA-GENE FAMILIES [J].
LAI, E ;
CONCANNON, P ;
HOOD, L .
NATURE, 1988, 331 (6156) :543-546
[7]  
MAEDA N, 1986, ANNU REV GENET, V20, P81
[8]  
PERL A, 1989, IMMUNOLOGY, V67, P135
[9]   ALLELIC VARIATIONS OF HUMAN TCR V-GENE PRODUCTS [J].
POSNETT, DN .
IMMUNOLOGY TODAY, 1990, 11 (10) :368-373
[10]   MOLECULAR GENOTYPING OF HUMAN T-CELL ANTIGEN RECEPTOR VARIABLE GENE SEGMENTS [J].
ROBINSON, MA ;
KINDT, TJ .
IMMUNOGENETICS, 1986, 24 (04) :259-266