Cytogenetics and Cell Genetics · 2008 · 24 citations · 0 references
MedicineGeneticsMolecular GeneticsCytogeneticsGenomicsOncogenesChromosomal TranslocationsOncogenic Fusion GenesReceptor Tyrosine Kinase OncogenesReceptor Tyrosine Kinase SignalingDna In Situ HybridizationGene Rearrangement AnalysisNemaline MyopathyNtrk Fusion GenesOncogenic Fusion ProteinsReceptor Tyrosine Kinase CascadesReceptor Tyrosine Kinase Gene Amplification
The human tropomyosin 3 (TPM3) gene was previously localized to chromosome 1. The non-muscle isoform of the TPM3 gene product becomes fused to a gene product from the tyrosine kinase receptor gene (NTRK1), previously localized to 1q23-->q24, to generate an active oncogene. Two sequence tagged sites spanning three exons and two introns in the carboxy coding region of the gene were used to localize TPM3 to 1q22-->q23 by fluorescence in situ hybridization. This localization now places the NTRK1 and TPM3 genes in close proximity, so that a gene fusion rearrangement would not be cytologically detected. The 1q22-->q23 localization of TPM3 is within the NEM1 locus associated with autosomal dominant nemaline myopathy, making TPM3 a candidate for this disorder.