splice variant
Alternative forms of mRNA produced from the same gene through different splicing patterns, often relevant in cancer pathogenesis.
Full Definition
A splice variant, also known as an isoform or alternatively spliced transcript, is a different version of mRNA produced from the same gene through the process of alternative splicing, where different combinations of exons are joined together during mRNA processing. In cancer genomics, splice variants are clinically significant because they can produce proteins with altered function, create novel therapeutic targets, or serve as biomarkers for disease progression or treatment response. Cancer-associated splice variants may result from mutations in splicing regulatory sequences, altered expression of splicing factors, or dysregulated cellular signaling pathways. Detection and characterization of splice variants through RNA sequencing or targeted assays can inform treatment decisions, particularly for drugs targeting specific protein domains or functions that may be preserved or lost in different isoforms.
Usage
Usage note: Distinguished from splice site mutations which affect the splicing process itself.
In Context
- "RNA sequencing identified a novel splice variant associated with drug resistance." — Research manuscript
- "The splice variant lacked the kinase domain targeted by the therapeutic antibody." — Molecular pathology report