SILENT NUCLEOTIDE SUBSTITUTION IN A BETA+-THALASSEMIA GLOBIN GENE ACTIVATES SPLICE SITE IN CODING SEQUENCE RNA

被引:95
作者
GOLDSMITH, ME [1 ]
HUMPHRIES, RK [1 ]
LEY, T [1 ]
CLINE, A [1 ]
KANTOR, JA [1 ]
NIENHUIS, AW [1 ]
机构
[1] NHLI,CLIN HEMATOL BRANCH,BETHESDA,MD 20205
来源
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES | 1983年 / 80卷 / 08期
关键词
D O I
10.1073/pnas.80.8.2318
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
引用
收藏
页码:2318 / 2322
页数:5
相关论文
共 48 条
[1]   NONRANDOM ASSOCIATION OF POLYMORPHIC RESTRICTION SITES IN THE BETA-GLOBIN GENE-CLUSTER [J].
ANTONARAKIS, SE ;
BOEHM, CD ;
GIARDINA, PJV ;
KAZAZIAN, HH .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (01) :137-141
[2]   EXPRESSION OF A BETA-GLOBIN GENE IS ENHANCED BY REMOTE SV40 DNA-SEQUENCES [J].
BANERJI, J ;
RUSCONI, S ;
SCHAFFNER, W .
CELL, 1981, 27 (02) :299-308
[3]   POSTTRANSCRIPTIONAL DEFECTS IN BETA-GLOBIN MESSENGER-RNA METABOLISM IN BETA-THALASSEMIA - ABNORMAL ACCUMULATION OF BETA-MESSENGER RNA PRECURSOR SEQUENCES [J].
BENZ, EJ ;
SCARPA, AL ;
TONKONOW, BL ;
PEARSON, HA ;
RITCHEY, AK .
JOURNAL OF CLINICAL INVESTIGATION, 1981, 68 (06) :1529-1538
[4]   SIZING AND MAPPING OF EARLY ADENOVIRUS MESSENGER-RNAS BY GEL-ELECTROPHORESIS OF S1 ENDONUCLEASE-DIGESTED HYBRIDS [J].
BERK, AJ ;
SHARP, PA .
CELL, 1977, 12 (03) :721-732
[5]   BETA+ THALASSEMIA - ABERRANT SPLICING RESULTS FROM A SINGLE POINT MUTATION IN AN INTRON [J].
BUSSLINGER, M ;
MOSCHONAS, N ;
FLAVELL, RA .
CELL, 1981, 27 (02) :289-298
[6]   BETA-O THALASSEMIA, A NONSENSE MUTATION IN MAN [J].
CHANG, JC ;
WAIKAN, Y .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1979, 76 (06) :2886-2889
[7]   ABNORMAL RNA SPLICING CAUSES ONE FORM OF ALPHA-THALASSEMIA [J].
FELBER, BK ;
ORKIN, SH ;
HAMER, DH .
CELL, 1982, 29 (03) :895-902
[8]   STRUCTURE OF THE HUMAN BETA-GLOBIN GENE IN BETA-THALASSEMIA [J].
FLAVELL, RA ;
BERNARDS, R ;
KOOTER, JM ;
BOER, E ;
LITTLE, PFR ;
ANNISON, G ;
WILLIAMSON, R .
NUCLEIC ACIDS RESEARCH, 1979, 6 (08) :2749-2760
[9]   ABNORMALLY SPLICED MESSENGER-RNA IN ERYTHROID-CELLS FROM PATIENTS WITH BETA+-THALASSEMIA AND MONKEY CELLS EXPRESSING A CLONED BETA+-THALASSEMIC GENE [J].
FUKUMAKI, Y ;
GHOSH, PK ;
BENZ, EJ ;
REDDY, VB ;
LEBOWITZ, P ;
FORGET, BG ;
WEISSMAN, SM .
CELL, 1982, 28 (03) :585-593
[10]   SV40-TRANSFORMED SIMIAN CELLS SUPPORT THE REPLICATION OF EARLY SV40 MUTANTS [J].
GLUZMAN, Y .
CELL, 1981, 23 (01) :175-182