Key result
Fluorescence in situ hybridization localized the human tropomyosin 3 (TPM3) gene to chromosome 1q22-->q23, placing it in close proximity to the NTRK1 gene and within the NEM1 locus.
The localization of TPM3 to 1q22-->q23 places it near NTRK1 and within the NEM1 locus, making it a candidate gene for autosomal dominant nemaline myopathy.
TPM3 candidacy for nemaline myopathy warrants targeted investigation; leaves open its diagnostic role pending human validation.
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.
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Wilton et al. (2008) studied autosomal dominant nemaline myopathy. Fluorescence in situ hybridization localized the human tropomyosin 3 (TPM3) gene to chromosome 1q22-->q23, placing it in close proximity to the NTRK1 gene and within the NEM1 locus.
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