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Figure 1 | BMC Medical Genetics

Figure 1

From: Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy

Figure 1

Myostatin and the human myostatin gene. The structure of myostatin, including the signal sequence (SS), and the regions of the propeptide and mature protein, is schematically described (Top). The numbers above the boxes indicate the amino-acid residue position. The vertical arrows indicate the locations of the two novel missense mutations and two nucleotides deletion identified in this study. The structure of the myostatin gene and the analyzed regions are schematically described (Bottom). Three coding regions (Exons 1, 2 and 3) and a part of the 3' untranslated region (3'UTR) of the myostatin gene were PCR amplified (boxes). The shaded and open boxes indicate the coding region and the sequenced region in the 3' untranslated region, respectively. Bold and thin horizontal lines indicate exons and introns, respectively. Horizontal arrows indicate the locations and directions of the primers used to amplify the regions. Numbers above the boxes indicate the nucleotide position according to the cDNA reference sequence in GenBank (accession no.: NM_005259), in which the "A" in the start codon is nucleotide #1. Numbers in the bottom indicate the size of each segment.

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