2008/05/15 by Steve D. Wilton, H.J. Eyre, P. Anthony Akkari +4 · 1 citation
Medicine · Biochemistry, Genetics and Molecular Biology · #Cardiomyopathy and Myosin Studies #Microtubule and mitosis dynamics #Muscle Physiology and Disorders #Biology #Gene #Genetics #Exon #Coding region #Locus (genetics) #Fluorescence in situ hybridization #Gene mapping #Tropomyosin #Gene product #Molecular biology #Actin #Chromosome #Gene expression
paper · doi:10.1159/000133905
openalex publication_date 2008/05/15 · openalex created_date 2016/06/24 · openalex updated_date 2026/07/30
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.