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

Chromosome region 17p13.3 is rich in genes, with 223 expressed sequence tag s (ESTs) within the last 15 cM (7 Mb) of chromosome 17p in the GeneMap data base. Loci for dominant retinitis pigmentosa (RP13), central areolar choroi dal dystrophy (CACD), anterior polar cataract (CTAA2), Miller-Dieker lissen cephaly 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 resiste d the efforts of the CEPH and Whitehead physical mapping programmes to gene rate contiguous clones across it. We have created a physical map covering a pproximately 3.5 Mb (6 cM) in this region, spanning the RP 13 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 maximu m LOH in lung cancer and has been implicated in the pathogenesis of many ot her human cancers. The map orders 47 sequence tagged sites, including 32 ge nes or ESTs, nine genetic markers, four anonymous sequences, and two YAC en d clones, and highlights new candidate ESTs for involvement in RP13, MDLS, CTAA2, and a tumour-susceptibility gene. Copyright (C) 2000 S. Karger AG, B asel.