Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Mutations

Mutations

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...

Mutations

Mutations

Mutations

Mutations

Point and Frameshift Mutations

Point 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...

Mismatch Repair

Mismatch 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...

Mismatch Repair

Mismatch Repair

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Pre-existing antibody and T cell responses to SaCas9, AsCas12a and CasΦ are comparable in naïve individuals.

Nature communications·2026

Same author

Editorial: Importance of quality assurance in radiation oncology clinical trials.

Frontiers in oncology·2026

Same author

An Alignment Free Framework for Taxonomic Inference From Codon and Codon-Pair Usage.

Ecology and evolution·2026

Same author

The procoagulant effect described in preparations of plasma-derived β2-glycoprotein I (β2GPI) is mediated by contamination with factor XIa.

Journal of thrombosis and thrombolysis·2026

Same author

Cytokine expression mediated immunogenic response of therapeutic IgG aggregates obtained by forced degradative stress factors and the role of a deep neural network in its prediction.

Biochemical and biophysical research communications·2026

Same author

Cell Lines CoCoPUTs: A Database of Codon and Codon-pair Usage Frequencies in Cell Lines.

Journal of molecular biology·2026

Same journal

The future of marsupial gene editing: What's in the (tool) pouch?

Trends in genetics : TIG·2026

Same journal

Genetic suppressors as new therapeutic targets for Mendelian diseases.

Trends in genetics : TIG·2026

Same journal

Beyond housekeeping: snRNA diversity, regulation, and human disease.

Trends in genetics : TIG·2026

Same journal

Rethinking mitochondrial metabolism: Intraindividual variability meets population constraints.

Trends in genetics : TIG·2026

Same journal

A role for epigenetics in rapid adaptation.

Trends in genetics : TIG·2026

Same journal

The myth of asexual fungi.

Trends in genetics : TIG·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Apr 27, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Exposing synonymous mutations.

Ryan C Hunt¹, Vijaya L Simhadri¹, Matthew Iandoli¹

¹Division of Hematology, Center for Biologics Evaluation and Research, Food and Drug Administration, Bethesda, MD, USA.

Trends in Genetics : TIG

|June 24, 2014

Summary

This summary is machine-generated.

Synonymous codon changes, once dismissed, now reveal significant biological impacts. Research explores diverse experimental and bioinformatic methods to understand these genetic code variations and their effects.

Keywords:

codon usage mRNA structure synonymous mutation synonymous single nucleotide polymorphism translation speed

More Related Videos

A Deep-sequencing-assisted, Spontaneous Suppressor Screen in the Fission Yeast Schizosaccharomyces pombe

A Deep-sequencing-assisted, Spontaneous Suppressor Screen in the Fission Yeast Schizosaccharomyces pombe

Published on: March 7, 2019

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Related Experiment Videos

Last Updated: Apr 27, 2026

In Vivo Modeling of the Morbid Human Genome using Danio rerio

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

A Deep-sequencing-assisted, Spontaneous Suppressor Screen in the Fission Yeast Schizosaccharomyces pombe

A Deep-sequencing-assisted, Spontaneous Suppressor Screen in the Fission Yeast Schizosaccharomyces pombe

Published on: March 7, 2019

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Area of Science:

Molecular Biology
Genetics
Bioinformatics

Background:

Synonymous codon changes were historically considered functionally neutral.
Recent research demonstrates these variants can have significant biological consequences.
The precise mechanisms underlying synonymous variant effects are still under investigation.

Purpose of the Study:

To review diverse experimental and bioinformatic methods for studying synonymous mutations.
To highlight the importance of synonymous variants in gene expression and protein function.
To discuss the implications of synonymous variants in human disease and therapeutic protein development.

Main Methods:

Experimental approaches to assess gene expression and protein folding.
Bioinformatic analyses to identify and predict the impact of synonymous variants.
Review of existing literature on the functional consequences of synonymous codon usage.

Main Results:

Biological systems utilize genetic code degeneracy to regulate gene expression.
Synonymous variants influence protein folding efficiency.
These changes can affect the coordinated expression of gene families.

Conclusions:

Synonymous variants play crucial roles in various biological contexts, including disease.
There is a need for consensus on methods to identify and validate synonymous variant effects.
Understanding these effects is vital for advancing human health and biotechnology.