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

Search research articles

Related Experiment Videos

Dynamic mutations as digital genetic modulators of brain development, function and dysfunction.

Jess Nithianantharajah¹, Anthony J Hannan

¹Howard Florey Institute, University of Melbourne, Parkville, Melbourne, Victoria 3010, Australia.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology

|May 18, 2007

Summary

This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by

Same author

Paternal cytokine administration alters sperm small ncRNAs and offspring brain and behavior.

Molecular psychiatry·2026

Same author

Gut microbiome alterations are sex-dependently associated with brain abnormalities in a mouse model of Neurofibromatosis type I.

Molecular psychiatry·2026

Same author

Paternal high molecular weight poly I:C administration alters the sperm small non-coding RNA profile and offspring brain development and behavioural phenotype.

Brain, behavior, and immunity·2026

Same author

Inhibition of the NLRP3 Inflammasome With MCC950 Improves Gut Health in Huntington's Disease Mice.

Journal of neurochemistry·2026

Same author

Acetyl-carnitine improves hyperactivity and learning deficits in <i>KAT6A</i> haploinsufficient mice.

Life science alliance·2026

Same author

Transcriptomic signatures in brain and blood related to cognitive and psychiatric phenotypes of Prader-Willi syndrome.

Scientific reports·2025

Same journal

AI in Genomics: From Variant Calling to Multi-Omics Integration.

BioEssays : news and reviews in molecular, cellular and developmental biology·2026

Same journal

Rethinking One Health: Microbial Foundations for Ecological Governance.

BioEssays : news and reviews in molecular, cellular and developmental biology·2026

Same journal

Biobanked Liver Organoids: A Roadmap for Precision Hepatology.

BioEssays : news and reviews in molecular, cellular and developmental biology·2026

Same journal

The Temporal Architecture of Human Cells: Organelle Clocks and Distributed Circadian Time.

BioEssays : news and reviews in molecular, cellular and developmental biology·2026

Same journal

Opposing Activity at the Apical Surface: An Antagonistic Collaboration Between Crumbs and Myosin II Determines Organ Shape.

BioEssays : news and reviews in molecular, cellular and developmental biology·2026

Same journal

Hidden Fungal DNA Structures May Shape Sequencing Outcomes.

BioEssays : news and reviews in molecular, cellular and developmental biology·2026

See all related articles

Simple sequence repeats in the human genome can cause dynamic mutations, leading to neurodegenerative disorders like Huntington's disease. These mutations, particularly CAG/glutamine expansions, are key to understanding brain conditions.

Area of Science:

Genetics
Neuroscience
Genomic Instability

Background:

The human genome contains abundant simple sequence repeats (SSRs), including microsatellites and minisatellites.
Microsatellites, defined as 1-6 nucleotide tandem repeats, are prone to dynamic mutations involving heritable alterations in repeat length.

Purpose of the Study:

To review the role of dynamic mutations in human brain disorders.
To focus on trinucleotide repeat expansion diseases, particularly those caused by CAG/glutamine repeats.
To propose a role for tandem repeat polymorphisms (TRPs) in modulating brain development and function.

Main Methods:

Literature review of genetic studies on dynamic mutations and neurological disorders.
Analysis of the mechanisms underlying trinucleotide repeat expansion diseases.

Related Experiment Videos

Conceptual framework for the role of TRPs in brain function and evolution.

Main Results:

A significant number of human disorders are attributed to dynamic mutations, with trinucleotide repeat expansions being the most prevalent.
Numerous neurodegenerative disorders, including Huntington's disease and various spinocerebellar ataxias, are linked to dynamic mutations.
CAG/glutamine repeat expansions represent a major category of dynamic mutation-associated brain disorders.

Conclusions:

Dynamic mutations in simple sequence repeats are a significant cause of human neurological and neurodegenerative diseases.
Understanding CAG/glutamine repeat expansions is crucial for comprehending the pathogenesis of disorders like Huntington's disease.
Tandem repeat polymorphisms may contribute to genetic diversity and evolution by influencing brain development and function.