title: A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1.
abstract: The region p13 of the short arm of human chromosome 11 has been studied intensely during the search for genes involved in the etiology of the Wilms' tumor, aniridia, genitourinary abnormalities, mental retardation (WAGR) syndrome, and related conditions. The gene map for this region is far from being complete, however, strengthening the need for additional gene identification efforts. We describe the extension of an existing contig map with P1-derived artificial chromosomes (PACs) to cover 7.5 Mb of 11p13-14.1. The extended sequence-ready contig was established by end probe walking and fingerprinting and consists of 201 PAC clones. Utilizing bins defined by overlapping PACs, we generated a detailed gene map containing 20 genes as well as 22 anonymous ESTs which have been identified by searching the RH databases. RH maps and our established gene map show global correlation, but the limits 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 clones were identified by database search and employed for Northern blot analyses and RNA in situ hybridizations to mouse embryo sections. Genomic sequencing of clones along a minimal tiling path through the contig is currently under way and will facilitate these expression studies by in silico gene identification approaches.
authors.affiliation: Physiologische Chemie I, Biozentrum der Universität Würzburg, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Gawin
authors.forename: A
authors.initials: A
authors.lastname: Niederführ
authors.forename: N
authors.initials: N
authors.lastname: Schumacher
authors.forename: H
authors.initials: H
authors.lastname: Hummerich
authors.forename: P F
authors.initials: PF
authors.lastname: Little
authors.forename: M
authors.initials: M
authors.lastname: Gessler
mesh_terms: D000818:Animals; D017101:Bacteriophage P1 / Q000235:genetics; D015152:Blotting, Northern / Q000379:methods; D002874:Chromosome Mapping; D016386:Chromosome Walking / Q000379:methods; D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D002880:Chromosomes, Human, Pair 11; D020451:Contig Mapping / Q000379:methods; D016172:DNA Fingerprinting / Q000379:methods; D015342:DNA Probes / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D004279:DNA, Viral / Q000235:genetics; D016208:Databases, Factual; D004622:Embryo, Mammalian; D020224:Expressed Sequence Tags; D015870:Gene Expression; D006801:Humans; D017403:In Situ Hybridization / Q000379:methods; D051379:Mice; D020161:Physical Chromosome Mapping; D012313:RNA / Q000032:analysis
chemical_list: D015342:DNA Probes; D018076:DNA, Complementary; D004279:DNA, Viral; D012313:RNA