A comparison of genomic structures and expression patterns of two closely related flanking genes in a critical lung cancer region at 3p21.3

Eur J Hum Genet. 1999 May-Jun;7(4):478-86. doi: 10.1038/sj.ejhg.5200334.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alternative Splicing
  • Amino Acid Sequence
  • Animals
  • Carcinoma, Small Cell / genetics
  • Cell Cycle Proteins
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3 / genetics*
  • DNA, Neoplasm / analysis
  • DNA-Binding Proteins / chemistry
  • DNA-Binding Proteins / genetics*
  • DNA-Binding Proteins / metabolism
  • Exons / genetics
  • Genes, Tumor Suppressor*
  • Humans
  • Introns / genetics
  • Lung Neoplasms / genetics*
  • Mice
  • Molecular Sequence Data
  • Polymorphism, Single-Stranded Conformational
  • Proteins / chemistry
  • Proteins / genetics*
  • Proteins / metabolism
  • RNA-Binding Proteins / chemistry
  • RNA-Binding Proteins / genetics*
  • RNA-Binding Proteins / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Tumor Cells, Cultured
  • Tumor Suppressor Proteins

Substances

  • Cell Cycle Proteins
  • DNA, Neoplasm
  • DNA-Binding Proteins
  • Proteins
  • RBM5 protein, human
  • RBM6 protein, human
  • RNA-Binding Proteins
  • Tumor Suppressor Proteins

Associated data

  • GENBANK/AF091263
  • GENBANK/AF091264