A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1

The region p13 of the short arm of human chromosome 11 has been studied int ensely during the search for genes involved in the etiology of the Wilms' t umor, aniridia, genitourinary abnormalities, mental retardation (WAGR) synd rome, and related conditions. The gene map for this region is far from bein g complete, however, strengthening the need For additional gene identificat ion efforts. We describe the extension of an existing contig map with Pi-de rived artificial chromosomes (PACs) to cover 7.5 Mb of 11p13-14.1. The exte nded sequence-ready contig was established by end probe walking and fingerp rinting and consists of 201 PAC clones. Utilizing bills defined by overlapp ing PACs, we generated a detailed gene map containing 20 genes as well as 2 2 anonymous ESTs which have been identified by searching the RH databases. RH maps and our established gene map show global correlation, but the limit s of resolution of the current RH panels are evident at this scale. Initial expression studies on the novel genes have been performed by Northern blot analyses. To extend these expression profiles, corresponding mouse cDNA cl ones were identified by database search and employed For Northern blot anal yses and RNA in situ hybridizations to mouse embryo sections. Genomic seque ncing of clones along a minimal tiling path through the contig is currently under way and will facilitate these expression studies by in silico gene i dentification approaches.