Figure 2: (Panel A) Schematic representation of the Ndufb11 alternative splicing and its regulation; boxes represent exons and lines introns. The arrows indicate the upstream 5′ splice site (2S) and the downstream 5′ splice site (2L) in exon 2. The three G run elements binding the hnRNPH1 protein between the two 5′ ss in exon 2 regulate the level of the Ndufb11 isoforms, promoting the selection of the weak 5′ ss (2S) and inhibiting the strong 5′ ss (2L). Rotenone treatment induces a down-regulation of the hnRNPH1 protein and induces the splicing mechanism to recognize the 5′ ss 2L with a shift of the short 153 aa coding/long 163 aa coding ratio. (Panel B) Scheme indicating the exonic 44 G→A, 289/290 DelG and intronic IVS1nt-1,G→A Ndufs4 mutations.
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