【摘要】 线粒体在真核细胞中扮演着重要的角色,其功能障碍与许多疾病的发生密切相关.在这项研究中,我们鉴定了一个有Tim44样结构域(Tim44-like domain)的人类线粒体蛋白编码基因C2ORF47(chromosome 2openreading frame 47).该基因是从人的睾丸组织中克隆出来的,在人体各种组织中广泛表达.序列比对和进化分析表明,该蛋白质和其同系物在脊椎动物中是保守的.采用免疫荧光技术,我们发现该基因产物定位于线粒体.过表达C2ORF47可以抑制细胞增殖.使用siRNA敲减内源的C2ORF47能促进细胞增殖.此外,敲减C2ORF47会导致糖和血清饥饿引发的细胞凋亡大幅减少.总之,在细胞增殖和由饥饿引发的细胞凋亡的调控中,该基因可能发挥重要作用.更多还原

【Abstract】 Mitochondria play important roles in eukaryotic cells and their dysfunction is closely related to the occurrence of many diseases.In this study,we describe a human mitochondrial protein coding gene C2ORF47(chromosome 2 open reading frame 47),with a Tim44-like domain,which was cloned from human testicle tissue and widely expressed in various human tissues.Sequence alignment and evolutionary analysis indicated that the protein and its orthologs,especially their C-terminus,were conserved in vertebrates.We showed the gene product was localized in the mitochondria by immunofluorescence assay.Ectopic expression of C2ORF47 could inhibit cell proliferation,while knockdown of C2ORF47 by siRNA promoted cell proliferation.In addition,C2ORF47 knockdown could lead to a considerable decrease of apoptosis induced by sugar and serum starvation.Taken together,the human mitochondrial gene may play essential roles in the regulation of cell proliferation and apoptosis induced by sugar and serum starvation.更多还原