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 Experiment Videos

Protein truncation test.

Rolf Vossen1, Johan T den Dunnen

  • 1Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.

Current Protocols in Human Genetics
|April 23, 2008
PubMed
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

HGVS Nomenclature 2024: improvements to community engagement, usability, and computability.

Genome medicine·2024
Same author

Author Correction: Standardizing variant naming in literature with VariantValidator to increase diagnostic rates.

Nature genetics·2024
Same author

Standardizing variant naming in literature with VariantValidator to increase diagnostic rates.

Nature genetics·2024
Same author

Comparison of the ABC and ACMG systems for variant classification.

European journal of human genetics : EJHG·2024
Same author

Systematic large-scale application of ClinGen InSiGHT <i>APC</i> -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.

medRxiv : the preprint server for health sciences·2024
Same author

Hematologically important mutations: Leukocyte adhesion deficiency (second update).

Blood cells, molecules & diseases·2023
Same journal

Resolving Breakpoints of Chromosomal Rearrangements at the Nucleotide Level Using Sanger Sequencing.

Current protocols in human genetics·2020
Same journal

Informed Consent for Genetic and Genomic Research.

Current protocols in human genetics·2020
Same journal

A Guide to Using ClinTAD for Interpretation of DNA Copy Number Variants in the Context of Topologically Associated Domains.

Current protocols in human genetics·2020
Same journal

The AD Knowledge Portal: A Repository for Multi-Omic Data on Alzheimer's Disease and Aging.

Current protocols in human genetics·2020
Same journal

A Practical Guide for Structural Variation Detection in the Human Genome.

Current protocols in human genetics·2020
Same journal

Identification and Genotyping of Transposable Element Insertions From Genome Sequencing Data.

Current protocols in human genetics·2020
See all related articles

The protein truncation test identifies mutations causing premature protein termination. This revised protocol details a preferred method using separate transcription-translation reactions and chemiluminescent detection.

Area of Science:

  • Molecular Biology
  • Genetics

Background:

  • The protein truncation test (PTT) is a key method for detecting mutations that result in premature protein termination.
  • The original PTT protocol has undergone significant revisions to improve its efficiency and applicability.

Purpose of the Study:

  • To present a thoroughly revised and preferred method for performing the protein truncation test.
  • To detail the optimized steps for detecting protein-level mutations leading to premature translation termination.

Main Methods:

  • Utilizes separate in vitro transcription and translation reactions.
  • Employs biotin-labeled or N-terminally tagged proteins synthesized during translation.
  • Detection of synthesized protein products is achieved via chemiluminescence on immunoblots.

Related Experiment Videos

Main Results:

  • The revised protocol offers a more robust and sensitive approach to PTT.
  • Successful detection of premature protein termination mutations is demonstrated.

Conclusions:

  • This updated protocol represents the current preferred method for conducting the protein truncation test.
  • The described techniques facilitate accurate identification of protein-truncating mutations.