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人类支链酮酸脱氢酶复合体的二氢硫辛酰胺支链转酰酶基因(DBT)定位于1号染色体。

Localization of the dihydrolipoamide branched-chain transacylase gene (DBT) of the human branched-chain keto acid dehydrogenase complex to chromosome 1.

作者信息

Lau K S, Eddy R L, Shows T B, Fisher C W, Chuang D T, Cox R P

机构信息

Department of Biochemistry, University of Texas Southwestern Medical School, Dallas.

出版信息

Cytogenet Cell Genet. 1991;56(1):33-5. doi: 10.1159/000133041.

DOI:10.1159/000133041
PMID:2004553
Abstract

The gene coding for the transacylase subunit (DBT) of the human branched-chain keto acid dehydrogenase complex was localized to chromosome 1 by probing panels of human x mouse chromosome hybrids with an E2 cDNA amplified by the polymerase chain reaction. Additional data with two hybrids containing chromosome 1 fragments suggest that the DBT gene is located on the short arm (1pter----p21) of the chromosome.

摘要

通过用聚合酶链反应扩增的E2 cDNA探测人x小鼠染色体杂种板,将人类支链酮酸脱氢酶复合体转酰酶亚基(DBT)的编码基因定位到1号染色体上。对两个含有1号染色体片段的杂种的进一步数据表明,DBT基因位于该染色体的短臂(1pter----p21)上。

相似文献

1
Localization of the dihydrolipoamide branched-chain transacylase gene (DBT) of the human branched-chain keto acid dehydrogenase complex to chromosome 1.人类支链酮酸脱氢酶复合体的二氢硫辛酰胺支链转酰酶基因(DBT)定位于1号染色体。
Cytogenet Cell Genet. 1991;56(1):33-5. doi: 10.1159/000133041.
2
Regional assignment of two genes of the human branched-chain alpha-keto acid dehydrogenase complex: the E1 beta gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31.人支链α-酮酸脱氢酶复合体两个基因的区域定位:E1β基因(BCKDHB)定位于6号染色体p21 - 22区域,E2基因(DBT)定位于1号染色体p31区域。
Genomics. 1991 Jul;10(3):740-7. doi: 10.1016/0888-7543(91)90458-q.
3
The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain alpha-keto acid dehydrogenase complex.
Biochim Biophys Acta. 1992 Oct 20;1132(3):319-21. doi: 10.1016/0167-4781(92)90169-z.
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Maple syrup urine disease: domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain alpha-keto acid dehydrogenase complex.枫糖尿症:支链α-酮酸脱氢酶复合体中二氢硫辛酰转乙酰基酶(E2)组分的结构域结构、突变与外显子跳跃
Mol Biol Med. 1991 Feb;8(1):49-63.
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Genetic reconstruction and characterization of the recombinant transacylase (E2b) component of bovine branched-chain alpha-keto acid dehydrogenase complex. Implication of histidine 391 as an active site residue.牛支链α-酮酸脱氢酶复合体重组转酰酶(E2b)组分的基因重建与特性分析。组氨酸391作为活性位点残基的意义。
J Biol Chem. 1990 Aug 5;265(22):13174-80.
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Conservation of primary structure in the lipoyl-bearing and dihydrolipoyl dehydrogenase binding domains of mammalian branched-chain alpha-keto acid dehydrogenase complex: molecular cloning of human and bovine transacylase (E2) cDNAs.哺乳动物支链α-酮酸脱氢酶复合体中含硫辛酰基结构域和二氢硫辛酰脱氢酶结合结构域一级结构的保守性:人和牛转酰酶(E2)cDNA的分子克隆
Biochemistry. 1988 Mar 22;27(6):1972-81. doi: 10.1021/bi00406a025.
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cDNA cloning of the chicken branched-chain alpha-keto acid dehydrogenase complex. Chicken-specific residues of the acyltransferase affect the overall activity and the interaction with the dehydrogenase.鸡支链α-酮酸脱氢酶复合体的cDNA克隆。酰基转移酶的鸡特异性残基影响整体活性以及与脱氢酶的相互作用。
Eur J Biochem. 2001 Feb;268(3):727-36. doi: 10.1046/j.1432-1327.2001.01925.x.
8
Structure of the gene encoding dihydrolipoyl transacylase (E2) component of human branched chain alpha-keto acid dehydrogenase complex and characterization of an E2 pseudogene.
J Biol Chem. 1992 Nov 25;267(33):24090-6.
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Localization of the human gene for the El alpha subunit of branched chain keto acid dehydrogenase (BCKDHA) to chromosome 19q13.1----q13.2.
Cytogenet Cell Genet. 1989;50(4):236-7. doi: 10.1159/000132768.
10
[Maple syrup urine disease: molecular pathology of the branched chain alpha-keto acid dehydrogenase complex].[枫糖尿症:支链α-酮酸脱氢酶复合体的分子病理学]
Seikagaku. 1992 Feb;64(2):67-82.

引用本文的文献

1
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.中美洲裔枫糖尿症患者 DBT 中反复观察到的变异的基因组和生化分析。
Am J Med Genet A. 2022 Sep;188(9):2738-2749. doi: 10.1002/ajmg.a.62893. Epub 2022 Jul 7.
2
Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.门诺派中的枫糖尿症。E1α 亚基中 Y393N 突变阻碍支链 α-酮酸脱氢酶复合体 E1 组分装配的证据。
J Clin Invest. 1991 Sep;88(3):1034-7. doi: 10.1172/JCI115363.