Commentary - Journal of RNA and Genomics (2024) Volume 20, Issue 4

RNA Splicing: The Key to Gene Regulation and Protein Diversity

Miriana Ferri^*

¹Department of Biology, Southern Georgetown University, Washington, USA

Corresponding Author:

Miriana Ferri
Department of Biology, Southern Georgetown University, Washington, USA
E-mail: miriana.ferri@uni.edu

Received: 19-Aug-2024, Manuscript No. RNAI-24-152544; Editor assigned: 21-Aug-2024, PreQC No. RNAI-24-152544 (PQ); Reviewed: 04-Sep-2024, QC No. RNAI-24-152544; Revised: 12-Sep-2024, RNAI-24-152544 (R); Published: 19-Sep-2024, DOI: 10.35841/2591-7781.19.1000212.

Citation: Ferri M. RNA splicing: The key to gene regulation and protein diversity. J RNA Genomics 2024;20(4):1-10.

Abstract

Description

RNA splicing is a fundamental biological process that plays an important role in the expression of genes enabling cells to generate the diverse array of proteins required for cellular function. At its core splicing involves the removal of non coding regions known as intron from precursor messenger RNA and the joining together of the remaining coding region or exons to form mature mRNA. This mature mRNA can then be translated into a functional protein. RNA splicing is not only essential for proper gene expression but also contributes to the regulation of alternative splicing events which generate protein diversity and enable organisms to adapt to different physiological conditions.

Splicing is carried out by a complex molecular machine known as the spliceosome a large assembly of RNA and protein components. The spliceosome recognizes specific nucleotide sequences at the boundaries of introns and exons known as the splice sites which are highly conserved. These sites include the 5' splice site at the start of the intron the 3' splice site at the end and a branch point sequence located upstream of the 3' splice site. The process begins with the recognition of the 5' splice site by the spliceosome followed by the formation of an intron loop and the cutting of the pre mRNA at the 5' splice site. The free 5' end of the intron is then joined to the branch point creating a lariat structure. Next the 3' splice site is cleaved and the two exons are ligated together releasing the intron in the form of a lariat.

While splicing was initially thought to be a straightforward process it has since been revealed to be highly dynamic and tightly regulated. Splicing decisions are influenced by various factors including the presence of regulatory proteins that can enhance or inhibit splicing events. These factors help determine which exons are included or excluded in the final mRNA transcript a phenomenon known as alternative splicing.

Alternative splicing allows a single gene to produce multiple distinct mRNA isoforms each of which can be translated into a different protein. This ability to generate protein diversity from a single gene is a key feature of eukaryotic genomes and plays an essential role in processes such as tissue specific gene expression developmental regulation and the immune response.

The process of alternative splicing can take several forms including exon skipping where an exon is omitted from the final mRNA transcript mutually exclusive exons where one of two exons is included in the final transcript which alter the region of the pre mRNA that is included in the final mRNA. These variations in splicing patterns are regulated by cis acting elements within the pre mRNA itself and trans acting splicing factors which include proteins such as splicing enhancers and silencers as well as small nuclear RNAs that are integral components of the spliceosome.

One of the most significant aspects of RNA splicing is its contribution to gene regulation. By controlling which exons are included in the mRNA transcript cells can fine tune gene expression and produce different protein isoforms that are required for specific functions. For example in the nervous system alternative splicing is essential for generating the diversity of ion channels and receptors that allow neurons to respond to a wide range of signals. In muscle cells alternative splicing is involved in the production of different isoforms of muscle specific proteins which are essential for the contraction and function of muscle tissue. Similarly the immune system relies on alternative splicing to produce a diverse array of antibodies and T cell receptors that can recognize and respond to a variety of pathogens.

The regulation of splicing is also important in the context of disease. Dysregulation of splicing events has been linked to a variety of disorders including cancer neurodegenerative diseases and genetic syndromes. In cancer for example altered splicing patterns can lead to the production of oncogenic proteins or the loss of tumor suppressors. One well known example is the mutation in the splicing factor SF3B1 which has been implicated in various types of cancer including leukemia. In neurodegenerative diseases such as spinal muscular atrophy mutations in the genes responsible for splicing regulation can result in the mis splicing of pre mRNAs leading to the loss of important proteins needed for normal cellular function. These insights into splicing disorders have led to the development of potential therapeutic strategies aimed at correcting defective splicing events.

Recent advances in RNA sequencing technology have enabled the detailed analysis of splicing patterns across the entire transcriptome revealing the complexity and diversity of splicing events in different tissues and developmental stages. These technologies allow researchers to identify alternative splicing events that might be involved in disease offering new opportunities for diagnostic biomarkers and therapeutic targets. Moreover the discovery of splicing modulating compounds known as splice switching oligonucleotides has opened the door to therapeutic interventions aimed at correcting splicing defects in genetic diseases. By targeting specific regions of the pre mRNA can promote the inclusion or exclusion of exons offering a way to restore normal splicing patterns.