Preprint Article Version 1 Preserved in Portico This version is not peer-reviewed

Deciphering the Genetic Orchestra: Unveiling Splice Form Dynamics in Human Cell Lines

Version 1 : Received: 13 May 2024 / Approved: 14 May 2024 / Online: 14 May 2024 (11:06:54 CEST)

How to cite: Arzumanian, V. A.; Kiseleva, O. I.; Poverennaya, E. V. Deciphering the Genetic Orchestra: Unveiling Splice Form Dynamics in Human Cell Lines. Preprints 2024, 2024050954. https://doi.org/10.20944/preprints202405.0954.v1 Arzumanian, V. A.; Kiseleva, O. I.; Poverennaya, E. V. Deciphering the Genetic Orchestra: Unveiling Splice Form Dynamics in Human Cell Lines. Preprints 2024, 2024050954. https://doi.org/10.20944/preprints202405.0954.v1

Abstract

Alternative splicing is an essential regulatory mechanism for gene expression in mammalian cells contributing to protein, cellular, and species diversity. Isoform switching, the process where cells alter the expression of various splice forms (isoforms) of a gene, plays a critical role in cellular function and adaptation. Our study provides a comprehensive analysis of splice forms prevailing across ten of the most studied human cell lines using public RNAseq data. We analyzed the occurrence of splice forms and found substantial justification for revising the canonical sequences for 56 genes, suggesting that these alternative splice forms should be recognized as canonical. Additionally, distinct profiles of splice form prevalence across these cell lines offer new insights into their specific biological roles. Our findings reinforce and expand upon previous insights into the link between isoform expression and oncological processes. Notably, we identified three genes exhibiting statistically significant changes between cancerous and normal tissues. Moreover, a comparative analysis of prevailing isoforms across diverse cell lines with prior research unveiled 140 common splice variants associated with cancer, highlighting their importance for prognostication and understanding oncogenesis. We revealed unique patterns and variations in isoform switching of these lines that provide new insights into the importance of selecting specific ones for research.

Keywords

alternative splicing; splice form; isoform switching

Subject

Biology and Life Sciences, Biochemistry and Molecular Biology

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