Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I.
Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I.
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DOI：
10.1006/geno.1996.0561
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发表时间：
1996-11
期刊：
影响因子：
4.4
通讯作者：
O. Zhuchenko;M. Wehnert;J. Bailey;Z. -. Sun;C. C. Lee-C.
中科院分区：
文献类型：
--
作者：
O. Zhuchenko;M. Wehnert;J. Bailey;Z. -. Sun;C. C. Lee-C.
我们报道了人类NDUFA1基因的分离、定位和基因组组织，该基因是NADH：泛醌氧化还原酶(复合体I)的一个组成部分。通过X染色体粘粒文库的反向探针法获得NDUFA1基因克隆及其相关的基因组粘粒克隆，并将其定位于Xq24。NDUFA1基因在人类心肌和骨骼肌中高度表达，其开放阅读框由70个氨基酸组成，与复合体I的牛MWFE亚基有80%的同源性。通过引物延伸，确定了主要和次要的转录起始点，分别位于翻译起始子ATG上游99和141个核苷酸。NDUFA1基因由3个外显子组成，基因组DNA长约5.0kb。NDUFA1基因的5‘端(约450个碱基)缺少常规的TATA和CAAT盒，但它含有几个潜在的转录因子结合位点，包括SP-1、AP-2、NF1、NRF2样蛋白、APRRE、Cre、MyoD1、Carg、MEF-2和BRE。
We report here the isolation, mapping, and genomic organization of the human NDUFA1 gene, which is a component of NADH:ubiquinone oxidoreductase (complex I). The NDUFA1 cDNA clone and associated genomic cosmid clones were isolated by reciprocal probing of an arrayed human heart cDNA library with a X-chromosome cosmid library and were mapped to Xq24. The NDUFA1 gene, which is highly expressed in human cardiac and skeletal muscle, has an open reading frame of 70 amino acids and shows 80% homology to the bovine MWFE subunit of complex I. By primer extension, the major and minor transcription initiation sites were identified, 99 and 141 nucleotides upstream of the translation initiator ATG, respectively. The NDUFA1 gene is composed of 3 exons and spans about 5.0 kb of genomic DNA. The 5' region of the NDUFA1 gene (approximately 450-bp fragment) lacks conventional TATA and CAAT boxes, but it contains several potential binding sites for transcription factors including SP-1, AP-2, NF1, NRF2-like, APRRE, CRE, MyoD1, CArG, MEF-2, and BRE.