transcriptvarianter

Transcript variants, also known as alternative splice variants or isoforms, are different messenger RNA (mRNA) molecules that can be produced from a single gene. This diversity arises primarily from the process of alternative splicing, where specific segments of the pre-mRNA transcript, called exons, can be included or excluded during the maturation of the mRNA. This allows a single gene to encode multiple proteins with potentially distinct functions, localization, or regulatory properties.

The creation of transcript variants is a fundamental mechanism for increasing the coding potential of a genome without requiring a proportionally larger number of genes. It plays a crucial role in cellular differentiation, development, and response to environmental stimuli. By generating different protein isoforms, cells can fine-tune cellular processes and adapt to varying conditions.

Identifying and characterizing transcript variants is a significant area of research in molecular biology and genomics. Techniques such as RNA sequencing (RNA-Seq) and various PCR-based methods are employed to detect and quantify these variations. Understanding the repertoire of transcript variants produced by a gene can provide insights into its complex regulatory mechanisms and its contribution to normal physiology and disease states. Aberrant transcript variant expression has been implicated in various human diseases, including cancer.