Localisation and detection of a polymorphism in the human skeletal Beta-Tropomyosin gene (TPM2)

TL;DRAbstract

Tropomyosin is one of the components of the thin filaments of muscle, binding to actin, and, together with troponin, regulating contraction in a calcium-dependent manner (Cho et al.,1990). There are at least four distinct tropomyosin genes in vertebrates and each may encode at least six different isoforms of tropomyosin by alternate splicing (Novy et al, 1993; MacLeod et al., 1988). The alpha-tropomyosin gene TPM1 has recently been localised to 15q22 (Eyre et al, 1994) and has been shown to be mutated in some cases of familial hypertrophic cardiomyopathy (Thierfelder et al., 1994). The alpha-tropomyosin gene TPM3 has been recently localised to 1q22-q23 (Wilton et al, 1994) and has been shown to be mutated in a family with autosomal dominant nemaline myopathy (Laing, 1994, unpublished observations). Each muscle-specific gene is possibly associated with an inherited muscle disease, if there is a disease causing mutation in the gene. Precise mapping of muscle genes therefore becomes impor

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