| Outline of Final Research Achievements |
The aim of this study is to elucidate pathomechanism of basement membrane duplications in the skin due to R1303Q mutation in the COL17A1. From plenty amount of clinical information of the patients with COL17A1 mutations in the department of dermatology Freiburg University Medical Center, clinical characteristics of COL17 R1303Q patients were addressed. Recombinant mouse COL17 protein with the same mutation revealed that the mutation impedes the processing of COL17, as observed in human COL17 R1303Q keratinocytes. Based on this in vitro data, we tried to generate gene manipulated mice carrying the R1282Q mutation in mouse COL17, which corresponds to human COL17 R1303Q, by gene editing using CRISPR/Cas-9. Fortunately, heterozygous mice with the mutation were produced. Currently, we are trying to produce homozygous mice with the mutation to address pathomechanism of pathomechanism of basement membrane duplications in the skin due to R1303Q mutation in the COL17A1.
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