Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Point and Frameshift Mutations01:30

Point and Frameshift Mutations

1.5K
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...
1.5K
Mutations01:39

Mutations

95.8K
Overview
95.8K
Translation01:31

Translation

21.6K
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
Proteins are...
21.6K
Translation01:31

Translation

159.4K
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...
159.4K

You might also read

Related Articles

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

Sort by
Same author

Manipulation of protein translation and stem cell self-renewal by CRISPR activation of rRNA transcription.

Science (New York, N.Y.)·2026
Same author

Neuroinflammation and neurodegeneration trigger a specific splice form of ribosomal protein S24.

Brain : a journal of neurology·2026
Same author

The regulation, function and disease relevance of cytoplasmic tRNAs.

Nature reviews. Molecular cell biology·2026
Same author

Automated high-throughput selection of DNA aptamers using a common optical next-generation sequencer.

Nucleic acids research·2026
Same author

Large variations in total and allele-specific transcript expression in a disease mutation-independent manner.

Scientific reports·2026
Same author

ADAM-tRNA-seq: an optimized approach for demultiplexing and enhanced hierarchal mapping in direct tRNA sequencing.

Nucleic acids research·2026

Related Experiment Video

Updated: Mar 18, 2026

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

3.1K

An Expanded CAG Repeat in Huntingtin Causes +1 Frameshifting.

Paul Saffert1, Frauke Adamla2, Rico Schieweck1

  • 1From the Institute of Biochemistry, University of Potsdam, 14467 Potsdam, Germany.

The Journal of Biological Chemistry
|July 7, 2016
PubMed
Summary

Expanded CAG repeats in huntingtin (Htt) exon 1 can cause a +1 frameshift, producing a toxic AGC-repeat protein. This frameshifting, linked to Huntington pathology, is triggered by a specific RNA structure.

Keywords:
Huntington diseaseaggregationframeshiftingseedingtranslationtranslation regulationtrinucleotide repeat disease

More Related Videos

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.5K
Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

10.1K

Related Experiment Videos

Last Updated: Mar 18, 2026

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

3.1K
A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

8.5K
Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

10.1K

Area of Science:

  • Molecular Biology
  • Genetics
  • Neuroscience

Background:

  • Maintaining correct reading frames during protein synthesis is vital for functional protein expression.
  • Deviations into -1 or +1 reading frames often result in non-functional proteins.
  • Huntingtin (Htt) exon 1 with expanded CAG repeats is implicated in Huntington's pathology.

Purpose of the Study:

  • To investigate the phenomenon of +1 frameshifting during the expression of Htt exon 1 with expanded CAG repeats.
  • To identify the mechanisms and conditions under which this +1 frameshifting occurs.
  • To explore the implications of the resulting trans-frame product on Htt aggregation.

Main Methods:

  • Expression of Htt exon 1 constructs with varying CAG repeat lengths.
  • Analysis of protein products using techniques to detect frameshifting and identify encoded sequences.
  • Investigating the role of RNA secondary structures and specific sequence motifs in frameshifting.

Main Results:

  • Expanded CAG repeats (>35 codons) in Htt exon 1 trigger a sporadic +1 frameshift.
  • This frameshift generates a trans-frame AGC repeat-encoded product.
  • An atypical +1 frameshift site (UUC C) and stem-loop structures formed by expanded repeats enhance this recoding.
  • +1 recoding is exclusively observed in pathological Htt variants.
  • The trans-frame product can influence the aggregation of the parental Htt exon 1.

Conclusions:

  • Sporadic +1 frameshifting during Htt exon 1 expression is a mechanism linked to pathological variants.
  • The formation of specific RNA structures and sequences facilitates this aberrant translation.
  • The resulting trans-frame protein product may contribute to the pathogenesis of Huntington's disease through aggregation modulation.