The human mitochondrial ribosomal protein genes: Mapping of 54 genes to the chromosomes and implications for human disorders
The human mitochondrial ribosomal protein genes: Mapping of 54 genes to the chromosomes and implications for human disorders
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DOI：
10.1006/geno.2001.6622
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发表时间：
2001-09-01
期刊：
影响因子：
4.4
通讯作者：
Tanaka, T
中科院分区：
文献类型：
--
作者：
Kenmochi, N;Suzuki, T;Tanaka, T
线粒体具有其自身的翻译机制，其由不同于其细胞质对应物的组分组成。为了研究线粒体核糖体缺陷在人类疾病中的可能参与，我们绘制了编码线粒体核糖体蛋白（MRPs）的核基因。我们生成了能够通过PCR检测到的单个MRP基因的序列标记位点（STS）。通过辐射杂交板的分型将它们置于人类基因组的STS内容图上。我们在STS-含量图谱上定位了54个MRP基因，并将这些基因分配到人类染色体的细胞遗传学条带中。虽然线粒体被认为起源于细菌，其中编码核糖体蛋白的基因聚集成操纵子，但映射的MRP基因广泛分散在整个基因组中，这表明每个MRP基因转移到核基因组单独发生。我们将指定的位置与孟德尔疾病的候选区域进行了比较，发现了可能与特定疾病有关的某些基因。该图谱为研究MRP缺陷在线粒体疾病中的可能作用提供了基础。
Mitochondria possess their own translational machinery, which is composed of components distinct from their cytoplasmic counterparts. To investigate the possible involvement of mitochondrial ribosomal defects in human disease, we mapped nuclear genes that encode mitochondrial ribosomal proteins (MRPs). We generated sequence-tagged sites (STSs) of individual MRP genes that were able to be detected by PCR. They were placed on an STS content map of the human genome by typing of radiation hybrid panels. We located 54 MRP genes on the STS-content map and assigned these genes to cytogenetic bands of the human chromosomes. Although mitochondria are thought to have originated from bacteria, in which the genes encoding ribosomal proteins are clustered into operons, the mapped MRP genes are widely dispersed throughout the genome, suggesting that transfer of each MRP gene to the nuclear genome occurred individually. We compared the assigned positions with candidate regions for mendelian disorders and found certain genes that might be involved in particular diseases. This map provides a basis for studying possible roles of MRP defects in mitochondrial disorders.