Related Experiment Video
Updated: May 10, 2026
09:30
Genome-wide Surveillance of Transcription Errors in Eukaryotic Organisms
Published on: September 13, 2018
When the message goes awry: disease-producing mutations that influence mRNA content and performance
1Howard Hughes Medical Institute, Institute of Genetic Medicine, Johns Hopkins University School of Medicine, 720 Rutland Avenue, Baltimore, MD 21205, USA.
Cell
|November 24, 2001
Summary
Disease-causing mutations often affect protein-coding genes. However, some genetic diseases arise from mutations impacting messenger RNA (mRNA) metabolism, affecting its processing, export, stability, and translation.
Area of Science:
- Molecular Biology
- Genetics
- Biochemistry
Background:
- Disease-causing mutations typically occur in protein-coding sequences, directly altering protein structure and function.
- A significant number of genetic disorders result from alterations in mRNA metabolism, a critical cellular process.
Purpose of the Study:
- To highlight the role of mRNA metabolism in disease etiology.
- To broaden the understanding of genetic mutations beyond protein-coding regions.
Main Methods:
- Review of existing literature on genetic mutations and mRNA metabolism.
- Analysis of case studies linking mRNA processing, export, stability, or translational control defects to diseases.
Main Results:
- Identified disease mechanisms involving mutations in non-coding regions affecting mRNA processing.
- Demonstrated links between mutations impacting mRNA export and specific genetic disorders.
- Highlighted the role of mRNA stability and translational control in disease pathogenesis.
Conclusions:
- Mutations influencing mRNA metabolism represent a significant, yet often overlooked, cause of genetic diseases.
- Understanding these mechanisms is crucial for accurate diagnosis and potential therapeutic strategies.
More Related Videos
Related Concept Videos
01:39Mutations
Overview
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
01:39Mutations
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
01:20Mismatch Repair
Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...