title: Expression map of human chromosome region 17p13.3, spanning the RP13 dominant retinitis pigmentosa locus, the Miller-Dieker lissencephaly syndrome (MDLS) region, and a putative tumour suppressor locus.
abstract: Chromosome region 17p13.3 is rich in genes, with 223 expressed sequence tags (ESTs) within the last 15 cM (7 Mb) of chromosome 17p in the GeneMap database. Loci for dominant retinitis pigmentosa (RP13), central areolar choroidal dystrophy (CACD), anterior polar cataract (CTAA2), Miller-Dieker lissencephaly syndrome (MDLS), and a region of tumour loss of heterozygosity (LOH) distinct from TP53 all map into the region adjacent to the 17p telomere. To date, however, there is no physical map of the region, which has resisted the efforts of the CEPH and Whitehead physical mapping programmes to generate contiguous clones across it. We have created a physical map covering approximately 3.5 Mb (6 cM)in this region, spanning the RP13 interval and extending distally to the gene MDCR (formerly, LIS1), which, when deleted, leads to the MDLS phenotype. The region covered is also the point of maximum LOH in lung cancer and has been implicated in the pathogenesis of many other human cancers. The map orders 47 sequence tagged sites, including 32 genes or ESTs, nine genetic markers, four anonymous sequences, and two YAC end clones, and highlights new candidate ESTs for involvement in RP13, MDLS, CTAA2, and a tumour-susceptibility gene.
authors.affiliation: Molecular Medicine Unit, Clinical Sciences Building, St James's University Hospital, Leeds University, UK.
authors.forename: J C
authors.initials: JC
authors.lastname: McHale
authors.forename: A B
authors.initials: AB
authors.lastname: McKie
authors.forename: E E
authors.initials: EE
authors.lastname: Tarttelin
authors.forename: C F
authors.initials: CF
authors.lastname: Inglehearn
mesh_terms: D018244:Chromosomes, Artificial, Yeast / Q000235:genetics; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D020451:Contig Mapping; D020224:Expressed Sequence Tags; D015870:Gene Expression; D005799:Genes, Dominant / Q000235:genetics*; D016147:Genes, Tumor Suppressor / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D019656:Loss of Heterozygosity / Q000235:genetics; D016133:Polymerase Chain Reaction; D012174:Retinitis Pigmentosa / Q000235:genetics*; D016324:Sequence Tagged Sites; D013577:Syndrome
chemical_list: D005819:Genetic Markers