siRNA-Mediated Allele-Specific Inhibition of Mutant Type VII Collagen in Dominant Dystrophic Epidermolysis Bullosa

Valérie Pendaries, Géraldine Gasc, Matthias Titeux, Laure Tonasso, José Enrique Mejía, Alain Hovnanian
2012 Journal of Investigative Dermatology  
Human autoantibodies against desmoplakins in paraneoplastic pemphigus. J Clin Invest 89:1775-82 Rafei D, Muller R, Ishii N et al. (2011) IgG autoantibodies against desmocollin 3 in pemphigus sera induce loss of keratinocyte adhesion. Am J Pathol 178:718-23 Schepens I, Jaunin F, Begre N et al. (2010) The protease inhibitor alpha-2-macroglobulinlike-1 is the p170 antigen recognized by paraneoplastic pemphigus autoantibodies in human. PLoS ONE 5:e12250 Spindler V, Heupel WM, Efthymiadis A et al.
more » ... 009) Desmocollin 3-mediated binding is crucial for keratinocyte cohesion and is impaired in pemphigus. Abbreviations: COL7A1D87, COL7A1 mRNA with deleted exon 87; COL7A1WT, wild-type COL7A1 mRNA; DDEB, dominant dystrophic epidermolysis bullosa; D87, in-frame skipping of COL7A1 exon 87; IRES, internal ribosome entry site; NC, negative control siRNA; RISC, RNA-induced silencing complex; siRNA, small interfering RNA; siwt, positive control siRNA; WT, wild type www.jidonline.org 1741 V Pendaries et al. siRNA-Mediated Allele-Specific Inhibition in DDEB Sakuntabhai A, Hammami-Hauasli N, Bodemer C et al. (1998) Deletions within COL7A1 exons distant from consensus splice sites alter splicing and produce shortened polypeptides in dominant dystrophic epidermolysis bullosa. Am J Hum Genet 63:737-48 Vert JP, Foveau N, Lajaunie C et al. (2006) An accurate and interpretable model for siRNA efficacy prediction. BMC Bioinformatics 7:520 www.jidonline.org 1743 V Pendaries et al. siRNA-Mediated Allele-Specific Inhibition in DDEB
doi:10.1038/jid.2012.11 pmid:22336946 fatcat:vzlawez5yjhkzpe47kblvobkmy