PHYSICAL MAPPING OF THE CA6, ENO1, AND SLC2A5 (GLUT5) GENES AND REASSIGNMENT OF SLC2A5 TO 1P36.2

Several human malignancies frequently exhibit deletions or rearrangeme nts of the distal short arm of chromosome 1 (1p36), and a number of ge netic diseases also map to this region. The carbonic anhydrase (CA6) a nd alpha-enolase (ENO1) genes, previously mapped to 1p36, were physica lly linked in yeast- and P1-artificial chromosome (YAC and PAC) contig s. PACs from the contig were mapped to 1p36.2 by fluorescence in situ hybridization. The ESTs D1S2068, D1S274E, D1S3275, and stSG4370 were a lso placed in the same contig. The physical map was integrated with th e genetic map of chromosome 1 by assignment of genetic markers D1S160, D1S1615, and D1S503 to the contig. Sequencing of the EST clone repres enting D1S274E indicated that it was derived from the same transcript as D1S2068E and corresponded to the SLC2A5 (GLUTS) gene, previously as signed to 1p31. Reassignment of SLC2A5 to 1p36.2 was confirmed by soma tic cell and radiation hybrid mapping panels and was consistent with p revious EST mapping data. Sequencing of the EST clone for D1S274E reve aled the presence of intronic sequences, suggesting that the clone was derived from an unprocessed message. The presence of unprocessed and/ or alternatively spliced EST clones has potential ramifications for ES T-based genomic projects. This information should facilitate the mappi ng of tumor suppressor and genetic disease loci that have been localiz ed to this region.