""Our study offers a valuable resource of splicing isoforms in both the non-diseased and diseased left ventricle of adult human hearts, contributing to a deeper understanding of their roles in cardiac health and pathogenesis. The full-length details of these cell-specific isoforms serve as a critical reference for downstream translational and mechanistic studies," said Ruli Gao, PhD, assistant professor of Biochemistry and Molecular Genetics and senior author of the study."
""In normal heart development, alternative splicing allows for temporal, spatial and tissue-specific regulation of protein diversity, supporting various cardiac functions in development. In heart diseases, abnormal splicing regulation can affect key cardiac contraction and electrical conduction through mis-spliced mRNAs and their protein products, contributing to diseases such as cardiomyopathy, arrhythmias and heart failure," said Gao, who is also a member of the Robert H. Lurie Comprehensive Cancer Center of Northwestern University."
Northwestern Medicine scientists developed a comprehensive atlas of genetic coding sequences in healthy adult hearts and hearts with heart failure. The atlas catalogs full-length, cell-specific RNA splicing isoforms in the non-diseased and diseased left ventricle. Alternative RNA splicing is identified as a key mechanism that produces different coding sequences from the same gene and influences cardiac development, contraction, and electrical conduction. A high-throughput long-read single-nucleus RNA-sequencing method profiles thousands of full-length transcripts from frozen cardiac tissue at single-cell resolution. Computational analyses integrated these data to enable identification of disease-associated mis-splicing and potential therapeutic targets for cardiovascular disease.
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