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The most severely affected dilated cardiomyopathy patients harbor Titin truncations in the C-terminal two-thirds of the protein, suggesting that mutation position might influence disease mechanism. Using CRISPR\/Cas9 technology, we generated six zebrafish lines with Titin truncations in the N-terminal and C-terminal regions. Although all exons were constitutive, C-terminal mutations caused severe myopathy whereas N-terminal mutations demonstrated mild phenotypes. Surprisingly, neither mutation type acted as a dominant negative. Instead, we found a conserved internal promoter at the precise position where divergence in disease severity occurs, with the resulting protein product partially rescuing N-terminal truncations. In addition to its clinical implications, our work may shed light on a long-standing mystery regarding the architecture of the sarcomere.<\/jats:p>","DOI":"10.7554\/elife.09406","type":"journal-article","created":{"date-parts":[[2015,10,16]],"date-time":"2015-10-16T10:01:57Z","timestamp":1444989717000},"source":"Crossref","is-referenced-by-count":101,"title":["An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish"],"prefix":"10.7554","volume":"4","author":[{"given":"Jun","family":"Zou","sequence":"first","affiliation":[{"name":"Cardiovascular Research Institute, University of California, San Francisco, San Francisco, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Tran","sequence":"additional","affiliation":[{"name":"Cardiovascular Research Institute, University of California, San Francisco, San Francisco, United 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