There are four regions with alternatively spliced exons, that is, exons 63–66, 82–105, 143–144 and 166–177, giving rise to a number of different transcripts. The translation initiation codon is in exon 3, and the stop codon and the 3′ UTR are in exon 183. The gene comprises 183 exons spanning 249 kb of the genomic sequence. Here we present the genomic organization of the entire nebulin gene, and the identification of numerous alternatively spliced mRNAs. We have previously described the genomic organization of the 3′ end of the nebulin gene ( NEB), and identified 18 different NEB mutations in patients with autosomal recessive nemaline myopathy. Nebulin binds to actin and the size of nebulin correlates with actin filament length, suggesting that nebulin may determine the length of the thin filaments during myofibrillogenesis. The giant nebulin protein is a fundamental structural component of the thin filaments of the striated muscle sarcomere.
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