Abstract

Cloned cDNAs representing the entire, homologous (80%) translated sequences of human phosphoribosylpyrophosphate synthetase (PRS) 1 and PRS 2 cDNAs were utilized as probes to localize the corresponding human PRPS1 and PRPS2 genes, previously reported to be X chromosome linked. PRPS1 and PRPS2 loci mapped to the intervals Xq22–q24 and Xp22.2–p22.3, respectively, using a combination of in situ chromosomal hybridization and human × rodent somatic cell panel genomic DNA hybridization analyses. A PRPS1-related gene or pseudogene ( PRPS1L2) was also identified using in situ chromosomal hybridization at 9q33–q34. Human HPRT and PRPS1 loci are not closely linked. Despite marked cDNA and deduced amino acid sequence homology, human PRS 1 and PRS 2 isoforms are encoded by genes widely separated on the X chromosome.

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