Related Experiment Video
Updated: Jun 26, 2026
11:22
Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay
Published on: August 26, 2018
Distribution and functional characterization of human Nav1.3 splice variants
R Thimmapaya1, T Neelands, W Niforatos
1Neuroscience Research, Abbott Laboratories, Abbott Park, IL 60064, USA. Rama.Thimmapaya@abbott.com
The European Journal of Neuroscience
|July 21, 2005
Summary
This study characterizes four human Nav1.3 alpha subunit splice variants, finding they are widely expressed in tissues and form functional sodium channels that modulate cellular excitability.
Area of Science:
- Neuroscience
- Molecular Biology
- Ion Channel Physiology
Background:
- The Nav1.3 sodium channel alpha subunit has splice variants influencing its function.
- Previous research identified three human Nav1.3 splice variants (12v1, 12v3, 12v4), with 12v2 reported only in rats.
Purpose of the Study:
- To investigate the tissue distribution of human Nav1.3 splice variants.
- To functionally characterize the four human Nav1.3 alpha subunit splice variants (12v1, 12v2, 12v3, 12v4).
Main Methods:
- Reverse transcriptase-polymerase chain reaction (RT-PCR) for tissue distribution analysis.
- Cloning of alpha subunit isoforms from human fetal brain.
- Expression in Xenopus oocytes for functional characterization.
Main Results:
- All four Nav1.3 splice variants are expressed in various human tissues, including spinal cord, thalamus, amygdala, cerebellum, brain, and heart.
- Each variant generates functional, tetrodotoxin-sensitive sodium channels with similar current amplitudes.
- Minor shifts (2-3 mV) in activation and inactivation kinetics were observed among the isoforms.
Conclusions:
- All four human Nav1.3 splice variants are broadly distributed.
- These variants produce functional sodium channels that modulate cellular excitability.
- The functional significance of subtle kinetic differences requires further investigation.
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...
02:18Alternative RNA Splicing
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...
02:26Comparing Copy Number Variations and SNPs
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
01:32Pre-mRNA Processing: RNA 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...
02:18Alternative RNA Splicing
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...