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紊乱的可能性很感兴趣。为了探索这种可能性，我们已经系统地定位了大约80个人类RP基因。由于加工假基因的存在使RP基因的定位变得复杂，我们设计了“内含子捕捉法”来识别内含子上的可检测序列标签位点(STSS)，我们产生了75个针对含有RP基因的内含子的STSS，然后通过对人-啮齿动物杂交细胞系进行分型，将它们分配到单个人类染色体上。通过对辐射杂交体进行分类或筛选YAC文库，这些基因被更精确地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基因定位得到确认、完善或纠正。尽管这75个定位基因在功能上相关并协调表达，但它们分布广泛：性染色体和22个常染色体中至少有20个携带一个或多个RP基因。众所周知，19号染色体具有很高的基因密度，它含有异常多的RP基因(12)。这一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.