November 7, 2023  |  Rare disease

CLN3 transcript complexity revealed by long-read RNA sequencing analysis

Authors: Hao-Yu Zhang, Christopher Minnis, Emil Gustavsson, Mina Ryten, Sara E Mole

Background Batten disease is a group of rare inherited neurodegenerative diseases. Juvenile CLN3 disease is the most prevalent type, and the most common mutation shared by most patients is the “1-kb” deletion which removes two internal coding exons (7 and 8) in CLN3. Previously, we identified two transcripts in patient fibroblasts homozygous for the “1-kb” deletion: the “major” and “minor” transcripts. To understand the full variety of disease transcripts and their role in disease pathogenesis, it is necessary to first investigate CLN3 transcription in “healthy” samples without juvenile CLN3 disease. Methods We leveraged PacBio long-read RNA sequencing datasets from ENCODE to investigate the full range of CLN3 transcripts across various tissues and cell types in human control samples. Then we sought to validate their existence using data from different sources.

Journal: Biorxiv
DOI: 10.1101/2023.10.12.562062v1
Year: 2023

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