Why is alternative splicing important in disease?
Why is alternative splicing important in disease?
Alternative splicing is a key element in eukaryotic gene expression that increases the coding capacity of the human genome and an increasing number of examples illustrates that the selection of wrong splice sites causes human disease. A fine-tuned balance of factors regulates splice site selection.
What is the role of alternative splicing in cancer?
In addition to changes in other steps of RNA processing, including 3′ end formation, RNA editing and RNA modifications that also contribute to cancer biology (reviewed elsewhere7,181,182), the monitoring of splicing alterations can provide abundant and effective biomarkers for use in the diagnosis, prognostication.
What type of error does incorrect splicing cause?
Any errors during the splicing process may lead to improper intron removal and thus cause alterations of the open reading frame. Therefore, the spliceosome complex has to correctly recognize and cut out the intronic sequences from the pre-mRNA molecule.
What is the result of alternative splicing?
The consequences of an alternative splicing are the deletion or the insertion of a nucleic acid sequence that might modify the protein sequence encoded by the gene.
Does splicing cause cancer?
In a new study published in the journal Cell Reports, researchers show that alterations in a process known as alternative splicing may also trigger the disease. Although DNA is the instruction manual for cell growth, maturation, division, and even death, it’s proteins that actually carry out the work.
When is alternative splicing used?
Alternative splicing of RNA is a crucial process for changing the genomic instructions into functional proteins. It plays a critical role in the regulation of gene expression and protein diversity in a variety of eukaryotes. In humans, approximately 95% of multi-exon genes undergo alternative splicing.
What is the significance of alternative splicing?
Alternative splicing is one of the most important mechanisms to generate a large number of mRNA and protein isoforms from the surprisingly low number of human genes. Unlike promoter activity, which primarily regulates the amount of transcripts, alternative splicing changes the structure of transcripts and their encoded proteins.
What is the advantage of alternative splicing?
Alternative splicing is an integral component of biodiversity. Various species use these mechanisms to carry out regulatory functions. The main advantage of splicing is that multiple proteins can be formed from a single gene through splicing of introns and exons.
Why is alternative splicing important?
Alternative splicing is an important mechanism for controlling gene expression. It allows large proteomic complexity from a limited number of genes. An interplay of cis-acting sequences and trans-acting factors modulates the splicing of regulated exons.
How does alternative splicing regulate gene expression?
Alternative splicing, or differential splicing, is a regulated process during gene expression that results in a single gene coding for multiple proteins. In this process, particular exons of a gene may be included within or excluded from the final, processed messenger RNA (mRNA) produced from that gene.