PMID- 10352938 OWN - NLM STAT- MEDLINE DCOM- 19990812 LR - 20061115 IS - 1018-4813 (Print) IS - 1018-4813 (Linking) VI - 7 IP - 4 DP - 1999 May-Jun TI - A comparison of genomic structures and expression patterns of two closely related flanking genes in a critical lung cancer region at 3p21.3. PG - 478-86 AB - In the search for a tumour suppressor gene in the 3p21.3 region we isolated two genes, RBM5 and RBM6. Gene RBM5 maps to the region which is homozygously deleted in the small cell lung cancer cell line GLC20; RBM6 crosses the telomeric breakpoint of this deletion. Sequence comparison revealed that at the amino acid level both genes show 30% identity. They contain two zinc finger motifs, a bipartite nuclear signal and two RNA binding motifs, suggesting that the proteins for which RBM5 and RBM6 are coding have a DNA/RNA binding function and are located in the nucleus. Northern and Southern analysis did not reveal any abnormalities. By SSCP analysis of 16 lung cancer cell lines we found only in RBM5 a single presumably neutral mutation. By RT-PCR we demonstrated the existence of two alternative splice variants of RBM6, one including and one excluding exon 5, in both normal lung tissue and lung cancer cell lines. Exclusion of exon 5 results in a frameshift which would cause a truncated protein of 520 amino acids instead of 1123 amino acids. In normal lung tissue, the relative amount of the shorter transcript was much greater than that in the lung tumour cell lines, which raises the question whether some tumour suppressor function may be attributed to the derived shorter protein. FAU - Timmer, T AU - Timmer T AD - Department of Medical Genetics, University of Groningen, The Netherlands. FAU - Terpstra, P AU - Terpstra P FAU - van den Berg, A AU - van den Berg A FAU - Veldhuis, P M AU - Veldhuis PM FAU - Ter Elst, A AU - Ter Elst A FAU - Voutsinas, G AU - Voutsinas G FAU - Hulsbeek, M M AU - Hulsbeek MM FAU - Draaijers, T G AU - Draaijers TG FAU - Looman, M W AU - Looman MW FAU - Kok, K AU - Kok K FAU - Naylor, S L AU - Naylor SL FAU - Buys, C H AU - Buys CH LA - eng SI - GENBANK/AF091263 SI - GENBANK/AF091264 PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Eur J Hum Genet JT - European journal of human genetics : EJHG JID - 9302235 RN - 0 (Cell Cycle Proteins) RN - 0 (DNA, Neoplasm) RN - 0 (DNA-Binding Proteins) RN - 0 (Proteins) RN - 0 (RBM5 protein, human) RN - 0 (RBM6 protein, human) RN - 0 (RNA-Binding Proteins) RN - 0 (Tumor Suppressor Proteins) SB - IM MH - Alternative Splicing MH - Amino Acid Sequence MH - Animals MH - Carcinoma, Small Cell/genetics MH - Cell Cycle Proteins MH - Chromosome Mapping MH - Chromosomes, Human, Pair 3/*genetics MH - DNA, Neoplasm/analysis MH - DNA-Binding Proteins/chemistry/*genetics/metabolism MH - Exons/genetics MH - *Genes, Tumor Suppressor MH - Humans MH - Introns/genetics MH - Lung Neoplasms/*genetics MH - Mice MH - Molecular Sequence Data MH - Polymorphism, Single-Stranded Conformational MH - Proteins/chemistry/*genetics/metabolism MH - RNA-Binding Proteins/chemistry/*genetics/metabolism MH - Reverse Transcriptase Polymerase Chain Reaction MH - Sequence Analysis, DNA MH - Tumor Cells, Cultured MH - Tumor Suppressor Proteins EDAT- 1999/06/03 00:00 MHDA- 1999/06/03 00:01 CRDT- 1999/06/03 00:00 PHST- 1999/06/03 00:00 [pubmed] PHST- 1999/06/03 00:01 [medline] PHST- 1999/06/03 00:00 [entrez] AID - 10.1038/sj.ejhg.5200334 [doi] PST - ppublish SO - Eur J Hum Genet. 1999 May-Jun;7(4):478-86. doi: 10.1038/sj.ejhg.5200334.