Related Experiment Video
Updated: Jul 12, 2026
08:53
A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
Published on: September 15, 2021
Splicing in disease: disruption of the splicing code and the decoding machinery
Guey-Shin Wang1, Thomas A Cooper
1Department of Pathology, Baylor College of Medicine, Houston, Texas 77030, USA.
Nature Reviews. Genetics
|August 30, 2007
Summary
The human genome
Area of Science:
- Molecular Biology
- Genetics
- Genomics
Background:
- Human genes possess cis-acting elements crucial for mRNA splicing.
- Alternative splicing creates a dynamic human proteome via coordinated events.
- Disruptions in splicing machinery or the splicing code can lead to diseases.
Purpose of the Study:
- To investigate the role of cis-acting elements in the human splicing code.
- To understand how alternative splicing contributes to proteome diversity.
- To explore the impact of mutations and genetic variations on splicing and disease.
Main Methods:
- Analysis of cis-acting elements within human genes.
- Studying networks of coordinated splicing events.
- Investigating the effects of cis- and trans-acting mutations on splicing machinery and regulation.
Main Results:
- A significant fraction of exonic mutations directly impact splicing.
- Normal genetic variations influence disease severity and susceptibility by altering splicing efficiency.
- New insights into the mechanisms of splicing disruption in diseases have been uncovered.
Conclusions:
- The human splicing code is essential for correct mRNA expression.
- Mutations and genetic variations affecting splicing are implicated in various diseases.
- Understanding splicing mechanisms is vital for disease research and therapeutic development.
Related Concept Videos
01:32RNA Splicing
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
01:32RNA Splicing
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
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Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
02:18Alternative RNA Splicing
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