Lomax M I, Hsieh C L, Darras B T, Francke U
Department of Anatomy and Cell Biology, University of Michigan, Ann Arbor 48109.
Genomics. 1991 May;10(1):1-9. doi: 10.1016/0888-7543(91)90476-u.
Subunit Vb of mammalian cytochrome c oxidase (COX; EC 1.9.3.1) is encoded by a nuclear gene and assembled with the other 12 COX subunits encoded in both mitochondrial and nuclear DNA. We have cloned the gene for human COX subunit Vb (COX5B) and determined the exon-intron structure by both hybridization analysis and DNA sequencing. The gene contains five exons and four introns; the four coding exons span a region of approximately 2.4 kb. The 5' end of the COX5B gene is GC-rich and contains many HpaII sites. Genomic Southern blot analysis of human DNA probed with the human COX Vb cDNA identified eight restriction fragments containing COX Vb-related sequences that were mapped to different chromosomes with panels of human x Chinese hamster somatic cell hybrids. Because only one of these fragments hybridized with a 210-bp probe from intron 4, we conclude that there is a single expressed gene for COX subunit Vb in the human genome. We have mapped this gene to chromosome 2, region cen-q13.
哺乳动物细胞色素c氧化酶（COX；EC 1.9.3.1）的亚基Vb由一个核基因编码，并与线粒体和核DNA中编码的其他12个COX亚基组装在一起。我们已经克隆了人类COX亚基Vb（COX5B）的基因，并通过杂交分析和DNA测序确定了外显子-内含子结构。该基因包含五个外显子和四个内含子；四个编码外显子跨越约2.4 kb的区域。COX5B基因的5'端富含GC，并且包含许多HpaII位点。用人COX Vb cDNA探测人类DNA的基因组Southern印迹分析鉴定出八个含有COX Vb相关序列的限制性片段，这些片段通过人类×中国仓鼠体细胞杂种板定位到不同的染色体上。因为这些片段中只有一个与来自内含子4的210 bp探针杂交，所以我们得出结论，人类基因组中存在一个单一的COX亚基Vb表达基因。我们已经将该基因定位到2号染色体，cen-q13区域。
