The physiology of alternative splicing.

Area of Science:

• Molecular Biology
• Genomics
• Biochemistry

Background:

• Alternative splicing is a key mechanism generating transcriptome complexity in multicellular eukaryotes.
• This complexity is increasingly recognized to be functionally relevant at the protein level.
• Understanding alternative splicing is crucial for comprehending organismal physiology and disease.

Purpose of the Study:

• To review the evidence linking alternative splicing to protein diversity and organismal functions.
• To highlight the role of alternative splicing in various biological processes and diseases.
• To discuss therapeutic applications derived from controlling alternative splicing.

Main Methods:

• Genome-wide analyses of transcriptomes.
• Detailed gene-specific studies.
• Review of existing literature and clinical data.

Main Results:

• Most transcriptome complexity from alternative splicing is reflected at the protein level.
• Alternative splicing regulates diverse processes including cell differentiation, thermal regulation, and neurological functions.
• Dysregulation of alternative splicing is implicated in cancer and autism spectrum disorders (ASD).

Conclusions:

• Alternative splicing fundamentally shapes organism physiology and pathology.
• Control over alternative splicing has led to approved therapies for hereditary diseases.
• Further research into alternative splicing holds promise for future therapeutic interventions.