Structural organization of the human mitochondrial cytochrome c1 gene.
Structural organization of the human mitochondrial cytochrome c1 gene.
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人类线粒体细胞色素 c1 基因的结构组织。
DOI：
10.1016/s0021-9258(18)94196-7
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发表时间：
1989
期刊：
影响因子：
--
通讯作者：
T. Ozawa
中科院分区：
文献类型：
--
作者：
H. Suzuki;Y. Hosokawa;M. Nishikimi;T. Ozawa
通过分析从EMBL3基因组DNA文库中获得的克隆，确定了整个人类细胞核线粒体cytochromec1编码基因的结构组织。该基因跨越2.4千碱基对，包含7个外显子，中间有6个相对较小的内含子。所有的内含子/外显子剪接都遵循GT/AG规则。该基因的5 '侧翼区域缺乏典型的转录调控序列元件，如TATA和CAAT盒，但包含7个假定的GC盒（Sp1结合位点）和几个类似于另一种Sp1响应元件、增强子核心共识序列、AP-1响应元件以及cAMP-和phobol酯诱导元件的序列。该区域还包含一个15个核苷酸的序列，与AP-4一致序列高度同源，并与人类ATP合成酶β亚基和鸡5-氨基乙酰酸合成酶两种与呼吸功能相关的酶基因的5 '侧区高度同源。该前序列是细胞色素1前体转运到线粒体所必需的，编码在第一和第二外显子中，与该前序列对应的核苷酸序列被第一个内含子分隔开。这是首个前导序列编码被内含子清楚地分成两部分的前导序列的例子。
The structural organization of the entire human nuclear encoded gene for mitochondrial cytochromec1was determined by analyzing a clone obtained from an EMBL3 genomic DNA library. The gene spans 2.4-kilobase pairs and contains seven exons interrupted by six introns of relatively small sizes. All intron/exon splice junctions follow the GT/AG rule. The 5′-flanking region of the gene lacks typical transcriptional regulatory sequence elements such as TATA and CAAT boxes but contains seven putative GC boxes (Sp1 binding sites) and several sequences that resemble another type of the Sp1 responsive element, the enhancer core consensus sequence, the AP-1 responsive element, and the cAMP- and phorbol ester-inducible element. The region also contains a 15-nucleotide sequence highly homologous to the AP-4 consensus sequence and to those in the 5′-flanking regions of the genes for two enzymes associated with respiratory function, the β subunit of human ATP synthase and chicken 5-aminolevulinate synthase. The presequence, which is essential for the transport of the cytochromec1precursor into mitochondria, is encoded in both the first and second exons, and the nucleotide sequence corresponding to the presequence is separated by the first intron. This is the first example of a leader sequence coding for a presequence clearly separated into two parts by an intron.