Related Experiment Video
Updated: Jun 20, 2026
08:59
Analysis of Protein Folding, Transport, and Degradation in Living Cells by Radioactive Pulse Chase
Published on: February 12, 2019
The CFTR frameshift mutation 3905insT and its effect at transcript and protein level.
Javier Sanz1, Thomas von Känel, Mircea Schneider
1Department of Paediatrics, Division of Human Genetics, University of Bern, Bern, Switzerland.
European Journal of Human Genetics : EJHG
|September 3, 2009
Summary
The 3905insT cystic fibrosis mutation does not trigger mRNA decay or alternative splicing. Reduced CFTR protein at the cell surface may explain the severe phenotype in patients with this mutation.
Area of Science:
- Genetics
- Molecular Biology
- Medical Science
Background:
- Cystic fibrosis (CF) is a common genetic disorder caused by CFTR gene mutations.
- The 3905insT mutation is frequent in Switzerland and linked to severe CF.
- CFTR mutations lead to varied genotypic and phenotypic outcomes.
Purpose of the Study:
- Investigate the molecular consequences of the 3905insT CFTR mutation.
- Determine if the mutation triggers mRNA degradation (NMD) or alternative splicing (NAS).
- Explore the impact of the mutation on CFTR protein levels at the apical membrane.
Main Methods:
- RT-PCR analysis in patient lymphocytes and tissues.
- Immunocytochemical analysis of nasal epithelial cells.
Main Results:
- The 3905insT mutation did not induce NMD or NAS.
- Significantly reduced CFTR protein was observed at the apical membrane.
- This reduction offers a molecular explanation for severe phenotypes in compound heterozygotes.
Conclusions:
- The 3905insT mutation leads to reduced CFTR protein at the cell surface.
- Further research is needed to understand the post-biosynthesis fate of the 3905insT CFTR protein.
More Related Videos
Related Concept Videos
01:30Point and Frameshift Mutations
Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
01:39Mutations
Overview
01:35Mutations
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:23Cystic Fibrosis: Pathogenesis
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation, but...