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人类核糖体蛋白基因的完整图谱:80个基因在细胞遗传图谱上的定位及其对人类疾病的影响。

A complete map of the human ribosomal protein genes: assignment of 80 genes to the cytogenetic map and implications for human disorders.

作者信息

Uechi T, Tanaka T, Kenmochi N

机构信息

Department of Biochemistry, School of Medicine, University of the Ryukyus, 207 Uehara, Nishihara, 903-0215, Japan.

出版信息

Genomics. 2001 Mar 15;72(3):223-30. doi: 10.1006/geno.2000.6470.

Abstract

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 (all 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.

摘要

人类核糖体蛋白(RP)基因的图谱绘制工作已经完成,所有80种不同的基因都已定位到人类基因组的细胞遗传学图谱上。由于存在加工假基因,RP基因的定位工作较为复杂,仍有5个基因有待定位。在此,我们开发了一种新策略,用于识别RP基因内含子处的序列标签位点(STS),并通过辐射杂种图谱法将RPL14、RPL22、RPL35、RPL36和RPL39定位到染色体上。与真细菌或古细菌不同,人类RP基因广泛分布于基因组中。结合先前的研究结果,发现性染色体和20条常染色体(除7号和21号染色体外的所有染色体)都携带一个或多个RP基因。为了探究RP基因可能与人类疾病的关联,我们根据已发表的人类基因组细胞遗传学BAC-STS图谱,将所有80个基因定位到细胞遗传学带区。我们将定位结果与孟德尔疾病的候选区域进行比较,发现了某些可能与特定人类疾病相关的基因。

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