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

Alternative RNA Splicing02:18

Alternative RNA Splicing

24.7K
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
24.7K
RNA Splicing01:32

RNA Splicing

60.4K
Splicing is the process by which eukaryotic RNA is edited before its translation into protein. The RNA strand transcribed from eukaryotic DNA is called the primary transcript. The primary transcripts that become mRNAs are called precursor messenger RNAs (pre-mRNAs). Eukaryotic pre-mRNA contains alternating sequences of exons and introns. Exons are nucleotide sequences that code for proteins, whereas introns are the non-coding regions. In RNA splicing, introns are removed and exons are bonded...
60.4K
Translation01:31

Translation

155.5K
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...
155.5K
Translation01:31

Translation

17.5K
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...
17.5K
Pedigree Analysis01:35

Pedigree Analysis

88.9K
Overview
88.9K
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

726
Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
726

You might also read

Related Articles

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

Sort by
Same author

Radiologist-Informed Radiomics: Improving the Accuracy of Preoperative Assessment for Lymph Node Metastasis in Rectal Cancer.

Academic radiology·2026
Same author

Preclinical evidence for icariin in Alzheimer's disease: Methodological quality, efficacy, and mechanisms.

Ageing research reviews·2026
Same author

Multicenter Analytical Comparison of Automated Quantitative Assays Versus Line Immunoassay for Anti-Ro/La Antibody Detection in Primary Sjögren's Syndrome.

Journal of immunology research·2026
Same author

A novel homozygous <i>TREM2</i> c.257del variant in a Chinese family with Nasu-Hakola disease: A case study and literature review.

The Journal of international medical research·2026
Same author

ANXA11 suppression restores muscular function in the mdx mouse model of Duchenne muscular dystrophy (DMD).

Nature communications·2026
Same author

Heterozygous Loss-of-Function Variants of KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia.

Movement disorders : official journal of the Movement Disorder Society·2026

Related Experiment Video

Updated: Jan 17, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.6K

Functional Characterization and Pathogenicity Classification of PRRT2 Splice Variants in PRRT2-Related Disorders.

Jiao-Jiao Xu1, Yu-Lan Chen1, Wan-Bing Sun1

  • 1Department of Medical Genetics and Center for Rare Diseases, Second Affiliated Hospital, Zhejiang University School of Medicine, and Zhejiang Key Laboratory of Rare Diseases for Precision Medicine and Clinical Translation, Hangzhou, Zhejiang, China.

Annals of Clinical and Translational Neurology
|September 16, 2025
PubMed
Summary

This study clarifies the pathogenicity of PRRT2 gene variants in paroxysmal kinesigenic dyskinesia (PKD). Combining computational and functional analyses confirms diagnoses for patients with suspected PKD.

Keywords:
PRRT2functional characterizationpathogenicity classificationsplice variants

More Related Videos

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.3K
Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

3.0K

Related Experiment Videos

Last Updated: Jan 17, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.6K
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

Published on: August 15, 2019

10.3K
Functional Characterization of Endogenously Expressed Human RYR1 Variants
07:59

Functional Characterization of Endogenously Expressed Human RYR1 Variants

Published on: June 9, 2021

3.0K

Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Paroxysmal kinesigenic dyskinesia (PKD) is a common hereditary movement disorder.
  • The PRRT2 gene is the primary genetic cause of PKD.
  • Investigating PRRT2 splice region variants is crucial for understanding PKD pathogenesis.

Purpose of the Study:

  • To determine the pathogenicity of PRRT2 variants in splice regions.
  • To enhance the genetic diagnosis of paroxysmal kinesigenic dyskinesia.
  • To evaluate the role of in silico and functional assays in variant classification.

Main Methods:

  • Targeted next-generation sequencing of the PRRT2 gene.
  • In silico analysis of splice region variants from patient cohorts and HGMD.
  • Functional assays using a minigene system in HEK293T cells to assess splicing abnormalities.

Main Results:

  • Fourteen PRRT2 variants were analyzed, including intronic, synonymous, deletion, and missense types.
  • In silico predictions indicated potential splicing disruption for most variants.
  • Functional assays confirmed aberrant splicing (exon skipping, intron retention) for 11 variants, enabling reclassification of five previously uncertain PRRT2 variants.

Conclusions:

  • A combined approach of in silico analysis and functional assays is essential for accurate pathogenicity assessment of PRRT2 splice variants.
  • This methodology improves the genetic diagnosis of paroxysmal kinesigenic dyskinesia and related disorders.
  • Accurate variant classification aids in confirming diagnoses for patients with suspected PRRT2-related conditions.