THE JOURNAL OF CELL BIOLOGY
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1 Supplemental Material Mejat et al., THE JOURNAL OF CELL BIOLOGY Figure S1. SUN1, SUN2, and Nesprin-1 localization in muscle fibers. (A) SUN1 and SUN2 localizations in synaptic and extrasynaptic nuclei of WT mice. Isolated muscle fibers from wild-type (WT) mouse tibialis anterior muscles were stained with DAPI (blue), bungarotoxin (green), and SUN1 or SUN2 antibody (red). SUN1 was highly expressed in terminal Schwann cells (yellow arrowheads) and extrasynaptic muscle nuclei (white arrowheads) but was hardly detectable in muscle synaptic nuclei. Similar stainings were observed in Lmna H222P/H222P and Lmna 2/2 tibialis anterior (not depicted). Compared with extrasynaptic nuclei, SUN2 was highly enriched in synaptic nuclear envelope. (B) SUN2 and Nesprin-1 localizations in extrasynaptic nuclei. Isolated muscle fibers from wild-type (WT), Lmna H222P/H222P, and Lmna 2/2 tibialis anterior were stained for nuclei with DAPI (blue), for AChR with bungarotoxin (green), and with SUN2 antibody (red) or Nesprin-1 antibody (red). SUN2 and Nesprin-1 were expressed in all muscle nuclei but highly enriched in wild-type synaptic nuclei (Fig. 3). Compared with the wild type, SUN2 was not altered in Lmna H222P/H222P extrasynaptic nuclei and was occasionally punctuated in Lmna 2/2 extrasynaptic nuclei (C), whereas Nesprin-1 was undistinguishable from the wild type in extrasynaptic nuclei of EDMD mice muscles (B). Bars, 10 µm. 1
2 Figure S2. Synaptic nuclei acetylation in wild-type and mutant Lmna mice. Isolated tibialis anterior muscle fibers from wild-type, Lmna 2/2 (not depicted), and Lmna H222P/H222P mice were stained with DAPI, bungarotoxin, and acetylated histone H3-K9 antibody. As previously published, synaptic nuclei were found to be highly acetylated in wild-type fibers compared with extrasynaptic nuclei (Ravel-Chapuis, A., M. Vandromme, J.L. Thomas, and L. Schaeffer EMBO J. 26: ). Compared with the wild type, Lmna 2/2 and Lmna H222P/H222P synaptic nuclei showed the same levels of acetylation (yellow arrowheads) but an increased level of acetylation in extrasynaptic nuclei (white arrowheads). Bars, 10 µm. S2
3 Figure S3. Transient knockdown of LMNA using AAV. (A) GFP expression in AAV-6 injected tibialis anterior muscles. Muscle fibers from AAV6- GFP injected tibialis anterior muscles were isolated 1 wk after injection and stained for nuclei with DAPI (blue) and for AChR with bungarotoxin (green). About 80% of the muscle fibers were GFP-positive, whereas no GFP could be detected in interstitial cells (arrowheads in bottom panel), Schwann cells (arrowheads in top panels), or the nerve terminal. Both the synaptic (top) and extrasynaptic (bottom) muscle areas are provided. Bars, 20 µm. (B) Lmna knockdown by AAV-6 shrna viruses. Lamin A/C proteins levels were evaluated by Western blotting between 1 and 5 wk after AAV injection in tibialis anterior of 6-wk-old male C57BL/6 mice. Samples from mice injected with AAV expressing shrna against Lmna (shlmna) or GFP (shgfp) are shown. Noninjected contralateral muscles (noninjected) were used as a control, and expression levels of histone H3 were used as a loading control. S3
4 Table S1. Description of patients and normal volunteers Patient Pathology Gender Age Muscle Mutation Reference y ALS 1 ALS Male 46 Unspecified Not determined E. Hoffman, unpublished data ALS 2 ALS Male 31 Unspecified Not determined E. Hoffman, unpublished data CMS 1 CMS Female 25 Deltoid CHRNE c.775g>c, p.v259l, dominant D. Hantaï, unpublished data CMS 2 CMS Male 12.5 Deltoid MUSK c.2503a>g, p.m835v, homozygous D. Hantaï, unpublished data EDMD 1 EDMD Male 13 Gluteus LMNA c.94_96delaag, p.delk32, heterozygous Muchir et al., 2004 EDMD 2 EDMD Male 59 Biceps LMNA c.665a>c, p.h222p, heterozygous Bonne et al., 2000 EDMD 3 EDMD Female 23 Deltoid LMNA c.746g>a, p.r249q, heterozygous G. Bonne, unpublished data EDMD 4 EDMD Female 2 Unspecified LMNA c g>t, c.ivs7-1 G>T, heterozygous Bakay et al., 2006 EDMD 5 EDMD Male 8 Unspecified LMNA c.1801a>g, p.s601g, heterozygous Bakay et al., 2006 FPLD 1 FPLD-DCM-CD Female 43 Deltoid LMNA c.178c>g, p.r60g, heterozygous van der Kooi et al., 2002 LGMD1B 1 LGMD 1B Female 63 Quadriceps LMNA c.1129c>t, p.r377c, heterozygous G. Bonne, unpublished data LGMD1B 2 LGMD 1B Female 68 Deltoid LMNA c.1262deltg, p.l421rfsx4, heterozygous G. Bonne, unpublished data NV 1 NV Male 5 Unspecified Not applicable E. Hoffman, unpublished data NV 2 NV Male 11 Deltoid Not applicable G. Bonne, unpublished data NV 3 NV Male 20 Deltoid Not applicable G. Bonne, unpublished data NV 4 NV Male 29 Unspecified Not applicable E. Hoffman, unpublished data NV 5 NV Male 37 Unspecified Not applicable E. Hoffman, unpublished data NV 6 NV Male 43 Duadriceps Not applicable G. Bonne, unpublished data NV 7 NV Male 58 Deltoid Not applicable G. Bonne, unpublished data BMD 1 BMD Male 20 Unspecified DMD c.6439-?_6912+?del (ex45ex47del) Kesari et al., 2008 BMD 2 BMD Male 9 Unspecified DMD c. 94-?_3786+?del (ex03ex27del) Kesari et al., 2008 BMD 3 BMD Male 2 Unspecified DMD c ?_7872+?del (ex45ex53del) Kesari et al., 2008 For each patient and when available, the following information is provided: pathology, gender of the patient, age at biopsy, muscle biopsied, mutated gene, and its mutation. NV, normal volunteer. Bakay, M., Z. Wang, G. Melcon, L. Schiltz, J. Xuan, P. Zhao, V. Sartorelli, J. Seo, E. Pegoraro, C. Angelini, B. Shneiderman, D. Escolar, Y.W. Chen, S.T. Winokur, L.M. Pachman, C. Fan, R. Mandler, Y. Nevo, E. Gordon, Y. Zhu, Y. Dong, Y. Wang, and E.P. Hoffman Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain. 129: Bonne, G., E. Mercuri, A. Muchir, A. Urtizberea, H.M. Bécane, D. Recan, L. Merlini, M. Wehnert, R. Boor, U. Reuner, M. Vorgerd, E.M. Wicklein, B. Eymard, D. Duboc, I. Penisson-Besnier, J.M. Cuisset, X. Ferrer, I. Desguerre, D. Lacombe, K. Bushby, C. Pollitt, D. Toniolo, M. Fardeau, K. Schwartz, and F. Muntoni Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann. Neurol. 48: Kesari, A., L.N. Pirra, L. Bremadesam, O. McIntyre, E. Gordon, A.L. Dubrovsky, V. Viswanathan, and E.P. Hoffman Integrated DNA, cdna, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule. Hum. Mutat. 29: Muchir, A., J. Medioni, M. Laluc, C. Massart, T. Arimura, A.J. van der Kooi, I. Desguerre, M. Mayer, X. Ferrer, S. Briault, M. Hirano, H.J. Worman, A. Mallet, M. Wehnert, K. Schwartz, and G. Bonne Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. Muscle Nerve. 30: van der Kooi, A.J., G. Bonne, B. Eymard, D. Duboc, B. Talim, M. Van der Valk, P. Reiss, P. Richard, L. Demay, L. Merlini, K. Schwartz, H.F. Busch, and M. de Visser Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology. 59: S4
5 Table S2. Sequences of the primers used in quantitative PCR experiments Gene Forward Reverse Myog 59-CTACAGGCCTTGCTCAGCTC AGATTGTGGGCGTCTGTAGG-39 Myod1 59-AGCACTACAGTGGCGACTCA GCTCCACTATGCTGGACAGG-39 Chrna 59-ACCTGGACCTATGACGGCTCT AGTTACTCAGGTCGGGCTGGT-39 Chrng 59-GTGTCTTCGAGGTGGCTCTC TCTGGGATTGGAAGATGAGG-39 Chrne 59-CTTGGTGCTGCTCGCTTACTT CGTTGATAGAGACCGTGCATT-39 Hdac9 59-GCGGTCCAGGTTAAAACAGA GAGCTGAAGCCTCATTTTCG-39 Fbxo32 59-CAGTGAGGACCGGCTACTGT CCAGGAGAGAATGTGGCAGT-39 Gapdh 59-AACTTTGGCATTGTGGAAGG ACACATTGGGGGTAGGAACA-39 MYOG 59-CAGTGCCATCCAGTACATCG AGGTTGTGGGCATCTGTAGG-39 MYOD1 59-GTCGAGCCTAGACTGCCTGT GGTATATCGGGTTGGGGTTC-39 CHRNA 59-TGACTATGGCGGTGTGAAAA TCAAAGGGAAAGTGGGTGAC-39 CHRNG 59-GCGCTGGAGAAGCTAGAGAA CACCAGGAACCACTCCTCAT-39 FBXO32 59-GGCTGCTGTGGAAGAAACTC CCTTCCAGGAAAGGATGTGA-39 GAPDH 59-TTCGACAGTCAGCCGCATCTTCTT CAGGCGCCCAATACGACCAAATC-39 5
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