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

页码：34 / 38

页数：5

共 16 条

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