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Mapping of the human ribosomal protein genes

人类核糖体蛋白基因图谱

基本信息

批准号：
08044308
负责人：
KENMOCHI Naoya
金额：
$ 2.37万
依托单位：
University of the Ryukyus
依托单位国家：
日本
项目类别：
Grant-in-Aid for international Scientific Research
财政年份：
1996
资助国家：
日本
起止时间：
1996 至 1997
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-08044308/
关键词：
ribosomal proteins gene mapping human chromosomes chromosomal disorders genome DNA STS ヒト染色体地図

项目摘要

We are intrigued by the possibility that deficiencies of ribosomal protein (rp) genes might cause certain chromosomal disorders in humans. To explore this possibility, we have been systematically mapping the estimated 80 human rp genes. Since localization of rp genes is complicated by the existence of processed pseudogenes, "intron trapping" was devised to identify PCR-detectable sequence-tagged sites (STSs) at introns.We generated 75 STSs specific to intron containing rp genes and then assigned them to individual human chromosomes by typing human-rodent hybrid cell lines. The gene were placed more precisely on the physical map of the human genome by typing radiation hybrids or screening YAC libraries. Fifty-one previously unmapped rp genes were localized, and 24 previously reported rp gene localizations were confirmed, refined or corrected. Though functionally related and coordinately expressed, the 75 mapped genes are widely dispersed : both sex chromosomes and at least 20 of the 22 autosomes carry one or more rp genes. Chromosome 19, known to have a high gene density, contains an unusually large number of rp genes (12). This map provides a foundation for studying the possible roles of ribosomal protein deficiencies in chromosomal and Mendelian disorders.

我们对核糖体蛋白（rp）基因缺陷可能导致人类某些染色体疾病的可能性很感兴趣。为了探索这种可能性，我们系统地绘制了估计的 80 个人类 rp 基因图谱。由于加工假基因的存在使 rp 基因的定位变得复杂，因此设计了“内含子捕获”来识别内含子上的 PCR 可检测序列标记位点 (STS)。我们生成了 75 个特异于含有 rp 基因的内含子的 STS，然后通过对人类-啮齿动物杂交细胞系进行分型，将它们分配给各个人类染色体。通过分型放射杂交或筛选 YAC 文库，该基因被更精确地放置在人类基因组的物理图谱上。定位了 51 个先前未定位的 rp 基因，并确认、完善或纠正了 24 个先前报道的 rp 基因定位。尽管功能相关且协调表达，这 75 个定位基因却广泛分散：两条性染色体和 22 个常染色体中的至少 20 个携带一个或多个 rp 基因。已知基因密度较高的 19 号染色体包含异常大量的 rp 基因 (12)。该图谱为研究核糖体蛋白缺陷在染色体和孟德尔疾病中的可能作用奠定了基础。