A complete map of the human ribosomal protein genes: Assignment of 80 genes to the cytogenetic map and implications for human disorders
A complete map of the human ribosomal protein genes: Assignment of 80 genes to the cytogenetic map and implications for human disorders
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DOI：
10.1006/geno.2000.6470
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发表时间：
2001-03-15
期刊：
影响因子：
4.4
通讯作者：
Kenmochi, N
中科院分区：
文献类型：
--
作者：
Uechi, T;Tanaka, T;Kenmochi, N
人类核糖体蛋白（RP）基因的定位已经完成，所有80个不同的基因都被放置在人类基因组的细胞遗传学图谱上。由于加工假基因的存在，RP基因的定位变得复杂，还有5个基因有待定位。在这里，我们开发了一种新策略来识别 RP 基因内含子处的序列标记位点 (STS)，并通过辐射杂交作图将 RPL14 RPL22、RPL35、RPL36 和 RPL39 定位在染色体内。与真细菌或古细菌不同，人类 RP 基因广泛分散在基因组中。结合之前的结果，发现性染色体和20号常染色体（7号和21号染色体）都携带一个或多个RP基因。为了探索 RP 基因在人类疾病中的可能参与，根据已发表的人类基因组细胞遗传学 BAC-STS 图谱，将所有 80 个基因分配到细胞遗传学条带。我们将分配的位置与孟德尔疾病的候选区域进行比较，发现某些基因可能与特定的人类疾病有关，(C) 2001 年学术出版社。
Mapping of the human ribosomal protein (RP) genes has been completed, and all 80 different genes were placed on a cytogenetic map of the human genome. Because of the existence of processed pseudogenes, the localization of the RP genes was complicated, and five genes had remained to be mapped. Here we developed a novel strategy to identify sequence-tagged sites (STSs) at introns of the RP genes, and we localized RPL14 RPL22, RPL35, RPL36, and RPL39 within the chromosomes by radiation hybrid mapping. Unlike the case of eubacteria or archaebacteria, human RP genes are widely scattered about the genome. Together with the previous results, both sex chromosomes and 20 autosomes tall but chromosomes 7 and 21) were found to carry one or more RP genes. To explore the possible involvement of RP genes in human disorders, all 80 genes were assigned to cytogenetic bands according to a published cytogenetic BAC-STS map of the human genome. We compared the assigned positions with candidate regions for Mendelian disorders and found certain genes that might be involved in particular human disorders, (C) 2001 Academic Press.