A bioinformatic survey of RNA isoform diversity and expression across 9 GTEx tissues using long-read sequencing data.

ABSTRACT:

Background

Even though alternative RNA splicing was discovered nearly 50 years ago (1977), we still understand very little about most isoforms arising from a single gene, including in which tissues they are expressed and if their functions differ. Human gene annotations suggest remarkable transcriptional complexity, with approximately 252,798 distinct RNA isoform annotations from 62,710 gene bodies (Ensembl v109; 2023), emphasizing the need to understand their biological effects. For example, 256 gene bodies have ≥ 50 annotated isoforms, and 30 have ≥ 100, where one protein-coding gene (MAPK10) even has 192 distinct RNA isoform annotations. Whether such isoform diversity results from biological redundancy or spurious alternative splicing (i.e., noise), or whether individual isoform

SUBMITTER: Page ML 

PROVIDER: S-EPMC12679790 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature