编码线粒体NADH：泛醌氧化还原酶的铁硫TYKY亚基的人类NDUFS8基因的基因组结构。

Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase.

作者信息

de Sury R, Martinez P, Procaccio V, Lunardi J, Issartel J P

机构信息

Laboratoire BECP/EA 2019, DBMS, CEA, 17 rue des Martyrs, 38054, Grenoble, cedex 9, France.

出版信息

Gene. 1998 Jul 17;215(1):1-10. doi: 10.1016/s0378-1119(98)00275-3.

DOI:10.1016/s0378-1119(98)00275-3

PMID:9666055

Abstract

The structural organization of the NDUFS8 gene coding for the TYKY subunit of the human mitochondrial NADH:ubiquinone oxidoreductase (Complex I) has been determined by sequencing of a genomic fragment cloned from a cosmid library. The NDUFS8 gene is located on chromosome 11q13 immediately downstream of the ALDH7 isoform gene. It spans about 6kb and contains seven exons ranging in size from 51 to 186bp. Three CCAAT box sequence motifs are present upstream of the transcription start. Sp1 and NRF1 binding site motifs are present in the first intron. Expression of the gene is ubiquitous but predominant in heart and skeletal muscle. Immunodetection of the TYKY subunit in placental mitochondria after two-dimensional gel electrophoresis revealed that the mature protein has a molecular mass of 22kDa and a pI in the range of 4.9-5.0.

摘要

通过对从黏粒文库中克隆的基因组片段进行测序，确定了编码人线粒体NADH：泛醌氧化还原酶（复合体I）的TYKY亚基的NDUFS8基因的结构组织。NDUFS8基因位于11号染色体q13上，紧挨着醛脱氢酶7同工型基因的下游。它跨度约6kb，包含7个外显子，大小从51bp到186bp不等。转录起始上游存在三个CCAAT盒序列基序。Sp1和NRF1结合位点基序存在于第一个内含子中。该基因的表达是普遍存在的，但在心脏和骨骼肌中占主导地位。二维凝胶电泳后对胎盘线粒体中TYKY亚基的免疫检测显示，成熟蛋白的分子量为22kDa，pI在4.9 - 5.0范围内。