1. Structure of abbreviated dystrophins.
Structure of abbreviated dystrophins. (A) Naturally occurring dystrophin isoforms. In the topmost schematic, blue boxes denote exons. The full-length dystrophin (Dp427) transcripts have three isoforms, including brain Dp427 (B), muscle Dp427 (M) and Purkinje cell Dp427 (P). Smaller dystrophin isoforms are produced from promoters located in different introns (intron positions are marked for each isoform). Dp260 is expressed in the retina, Dp140 in the brain and kidney, Dp116 in Schwann cells, and Dp71 and Dp40 are expressed from the same promoter except Dp71 is ubiquitously expressed whereas Dp40 only exists in the brain. Except for Dp140, all other dystrophin isoforms have unique N-terminal sequences not present in the full-length protein. (B) Structure of representative mini- and micro-dystrophins. The full-length dystrophin protein is shown uppermost, and features the same terminology as that used in Fig. 1.
Joe W. McGreevy et al. Dis. Model. Mech. 2015;8:
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