GENERATION OF A TRANSCRIPTIONAL MAP FOR A 700-KB REGION SURROUNDING THE POLYCYSTIC KIDNEY-DISEASE TYPE-1 (PKD1) AND TUBEROUS SCLEROSIS TYPE-2 (TSC2) DISEASE GENES ON HUMAN-CHROMOSOME 16P13.3

A 700-kb region of DNA in human chromosome 16p13.3 has been shown to c ontain the polycystic kidney disease 1 (PKD1) and the tuberous scleros is type 2 (TSC2) disease genes. An estimated 20 genes are present in t his region of chromosome 16. We have initiated studies to identify tra nscribed sequences in this region using a bacteriophage P1 contig cont aining 700 kb of DNA surrounding the PKD1 and TSC2 genes. We have isol ated 96 unique exon traps from this interval, with 23 of the trapped e xons containing sequences from five genes known to be in the region. T hirty exon traps have been mapped to additional transcription units ba sed on data base homologies, Northern analysis, or their presence in c DNA or reverse transcriptase (RT)-PCR products. We have mapped the hum an RNPS gene to the cloned interval. We have obtained cDNAs or RT-PCR products from eight novel genes, with sequences from seven of these ge nes having homology to sequences in the data bases. Two of the newly i dentified genes represent human homologs for rat and murine genes iden tified previously. We have isolated three exon traps with homology to sequences in the data bases but have been unable to confirm the presen ce of these exon traps in expressed sequences. In addition, we have is olated 43 exon traps that do not map to our existing cDNAs or PCR prod ucts and have no homology to sequences in the data bases. In this repo rt we present a transcriptional map for the 700 kb of DNA surrounding the PKD1 and TSC2 genes.