Mapping of the human ribosomal protein genes

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，我们已经系统地绘制了大约80个人类rp基因的图谱。由于rp基因的定位因加工假基因的存在而变得复杂，因此设计了“内含子捕获”来鉴定内含子上pcr可检测的序列标记位点（STSs）。我们生成了75个含有内含子rp基因的特异性STSs，然后通过分型人鼠杂交细胞系将它们分配到单个人类染色体上。通过分型辐射杂交或筛选YAC文库，可以更精确地将该基因放置在人类基因组的物理图谱上。51个先前未定位的rp基因被定位，24个先前报道的rp基因定位被确认、完善或纠正。尽管在功能上相关并协调表达，75个被定位的基因分布广泛：性染色体和22个常染色体中至少20个携带一个或多个rp基因。已知基因密度高的第19号染色体包含异常多的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提供了基础。

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.