ZFIN Image: Middel et al., 2016, Fig. 6

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Figure Caption

Fig. 6

Arginine-rich motif is mutated in myopathy patients.

(a) Zebrafish zfWRRFK-TM-C and human hWRRFR-TM-C (red box arginine-rich motif; black box: TM domain, arrow: R2042C mutation). (b,c), hWRRFR-TM-C localized to the Z-line (z) and sarcolemma (sc) before damage (b). On damage, it accumulated at the lesion (b, arrow; c, red). In contrast, hWAAFK-TM-C (c, blue) and hWAAFA-TM-C (c, yellow) mutants did not accumulate and hWAAFR-TM-C caused significantly reduced accumulation (c, green). (d) LactC2:RFP accumulated in Dysf-KD myofibers when hWRRFR-TM-C (green) but not when mutant hWAAFK-TM-C (red). was co-expressed. (e,f) zfWRCFK-TM-C (e, green) and hWRCFR-TM-C (f, green), modelling the R2042C dysferlinopathic mutation showed significantly reduced accumulation (red). The fluorescence intensity of Dysf reporters at lesion relative to levels before damage is expressed as mean±s.d. (n≥6). Note that the control data on hWRRFR-TM-C (c,f) are identical. Similarly, zfWRRFK-TM-C data (e) are also shown in Figs 3h and 5a. Scale bar, 4 µm.

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