Mapping of the human ribosomal protein genes

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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.