Smeitink J, Loeffen J, Smeets R, Triepels R, Ruitenbeek W, Trijbels F, van den Heuvel L
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital Nijmegen, The Netherlands.
Hum Genet. 1998 Aug;103(2):245-50. doi: 10.1007/s004390050813.
Bovine NADH:ubiquinone oxidoreductase (complex 1) of the mitochondrial respiratory chain consists of about 36 nuclear-encoded subunits. We review the current knowledge of the 15 human complex I subunits cloned so far, and report the 598-bp cDNA sequence, the chromosomal localization and the tissue expression of an additional subunit, the B17 subunit. The cDNA open reading frame of B17 comprises 387 bp and encodes a protein of 128 amino acids (calculated Mr 15.5 kDa). There is 82.7% and 78.1% homology, respectively, at the cDNA and amino acid level with the bovine counterpart. The gene of the B17 subunit has been mapped to chromosome 2. Multiple-tissue dot-blots showed ubiquitous expression of the mRNA with relatively higher expression in tissues known for their high energy demand. Of these, kidney showed the highest expression. Mutational analysis of the subunit revealed no mutations or polymorphisms in 20 patients with isolated enzymatic complex I deficiency in cultured skin fibroblasts.
线粒体呼吸链的牛NADH：泛醌氧化还原酶（复合体I）由约36个核编码亚基组成。我们综述了目前对迄今已克隆的15种人类复合体I亚基的了解，并报告了另一个亚基B17亚基的598 bp cDNA序列、染色体定位和组织表达情况。B17的cDNA开放阅读框包含387 bp，编码一个128个氨基酸的蛋白质（计算分子量为15.5 kDa）。在cDNA和氨基酸水平上，与牛对应物的同源性分别为82.7%和78.1%。B17亚基的基因已定位到2号染色体。多组织点杂交显示该mRNA在多种组织中普遍表达，在能量需求高的组织中表达相对较高。其中，肾脏的表达最高。对该亚基的突变分析显示，在20例培养的皮肤成纤维细胞中孤立性酶复合体I缺乏症患者中未发现突变或多态性。
