STRUCTURE OF THE GENE ENCODING THE ENTIRE MATURE E1-ALPHA-SUBUNIT OF HUMAN BRANCHED-CHAIN ALPHA-KETO ACID DEHYDROGENASE COMPLEX

被引：15
作者：
DARIUSH, N
FISHER, CW
COX, RP
CHUANG, DT
机构：
[1] UNIV TEXAS,SW MED CTR,DEPT BIOCHEM,5323 HARRY HINES BLVD,DALLAS,TX 75235
[2] UNIV TEXAS,SW MED CTR,DEPT INTERNAL MED,DALLAS,TX 75235
来源：
FEBS LETTERS | 1991年 / 284卷 / 01期
关键词：
E1-ALPHA-GENE STRUCTURE (HUMAN); MAPLE SYRUP URINE DISEASE; E1-ALPHA-MUTATION; EXON SKIPPING;
D O I：
10.1016/0014-5793(91)80755-R
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
We report the isolation of a 22-kb human genomic clone (G7) that contains 8 exons encoding a partial mitochondrial presequence, the entire mature peptide and the complete 3' untranslated region of the E1-alpha mRNA of human branched-chain alpha-keto acid dehydrogenase complex. Based on this gene structure, exon 9 contains the Tyr393 --> Asn mutation previously identified in the E1-alpha subunit of Mennonite and other maple syrup urine disease (MSUD) patients. Moreover, the homozygous mutation appears to cause skipping of exon 6 in the mutant E1-alpha transcript. The information on the gene structure for the entire mature E1-alpha subunit will facilitate investigations into the molecular basis of MSUD involving this subunit.
引用
收藏
页码：34 / 38
页数：5
相关论文
共 16 条
[1]  
BREATHNACH R, 1981, ANNU REV BIOCHEM, V50, P349, DOI 10.1146/annurev.bi.50.070181.002025
[2]   SUPERCOIL SEQUENCING - A FAST AND SIMPLE METHOD FOR SEQUENCING PLASMID DNA [J].
CHEN, EY ;
SEEBURG, PH .
DNA-A JOURNAL OF MOLECULAR & CELLULAR BIOLOGY, 1985, 4 (02) :165-170
[3]   ISOLATION OF BIOLOGICALLY-ACTIVE RIBONUCLEIC-ACID FROM SOURCES ENRICHED IN RIBONUCLEASE [J].
CHIRGWIN, JM ;
PRZYBYLA, AE ;
MACDONALD, RJ ;
RUTTER, WJ .
BIOCHEMISTRY, 1979, 18 (24) :5294-5299
[4]  
Danner DJ, 1989, METABOLIC BASIS INHE, P671
[5]  
Davis L. G., 1986, BASIC METHODS MOL BI
[6]   A TECHNIQUE FOR RADIOLABELING DNA RESTRICTION ENDONUCLEASE FRAGMENTS TO HIGH SPECIFIC ACTIVITY [J].
FEINBERG, AP ;
VOGELSTEIN, B .
ANALYTICAL BIOCHEMISTRY, 1983, 132 (01) :6-13
[7]  
FISHER CR, 1991, UNPUB AM J HUM GENET
[8]  
FISHER CW, 1989, J BIOL CHEM, V264, P3448
[9]  
LEACH DRF, 1983, NATURE, V305, P448, DOI 10.1038/305448a0
[10]   A T-TO-A SUBSTITUTION IN THE E1-ALPHA SUBUNIT GENE OF THE BRANCHED-CHAIN ALPHA-KETOACID DEHYDROGENASE COMPLEX IN 2 CELL-LINES DERIVED FROM MENONITE MAPLE SYRUP URINE DISEASE PATIENTS [J].
MATSUDA, I ;
NOBUKUNI, Y ;
MITSUBUCHI, H ;
INDO, Y ;
ENDO, F ;
ASAKA, J ;
HARADA, A .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1990, 172 (02) :646-651
12