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

Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA Splicing

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...

RNA Splicing

RNA Splicing

RNA Splicing

RNA Splicing

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...

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

Comparing Copy Number Variations and SNPs

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...

You might also read

Related Articles

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

Sort by

Same author

Treatment of trigeminal neuralgia: single-fraction LINAC-based radiosurgery option, mono-institutional experience with long follow-up.

La Radiologia medica·2026

Same author

Pathological disruption of CELF2 shuttling causes neuronal hyperactivity, learning deficits, and seizures.

The Journal of clinical investigation·2026

Same author

Novel Variants in PUS7 Associated With Intellectual Disability and Growth Retardation: Expanding the Clinical Spectrum in 13 Patients.

Clinical genetics·2026

Same author

The t(X;5)(q13;q33) Translocation in Myeloid Neoplasms Is Preferentially Associated With Chronic Myelomonocytic Leukemia: A Report From the Groupe Francophone de Cytogénétique Hématologique.

Genes, chromosomes & cancer·2026

Same author

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Nature genetics·2026

Same author

Genetic variants in Rps4x cause intellectual disability with dysmorphic features, microcephaly, and autism.

NPJ genomic medicine·2026

Search research articles

Related Experiment Video

Updated: Mar 15, 2026

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Published on: December 9, 2016

Resolving non‑coding splice‑altering variants using an integrative genomic and transcriptomic workflow: application

Pauline Planté-Bordeneuve^1,2,3, Anne-Sophie Jourdain^1,2, Caroline Thuillier²

¹Univ. Lille, ULR7364 RADEME, FHU-G4 Génomique, Lille, F-59000, France.

|March 14, 2026

Summary

Interpreting genetic variants affecting RNA splicing is challenging. This study introduces a workflow combining computational predictions, minigene assays, and long-read RNA sequencing to functionally assess splice-altering variants, aiding clinical genomics.

Keywords:

FOXP1 Genome diagnostics Long‑read RNA sequencing Minigene assay Non‑coding variants RNA splicing

More Related Videos

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression

In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression

Published on: March 29, 2019

Related Experiment Videos

Last Updated: Mar 15, 2026

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Published on: December 9, 2016

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression

In vivo Application of the REMOTE-control System for the Manipulation of Endogenous Gene Expression

Published on: March 29, 2019

Area of Science:

Genomics
Molecular Biology
Neurodevelopmental Disorders

Background:

Genome sequencing frequently identifies non-coding variants with unclear functional significance, particularly those impacting pre-mRNA splicing.
Accurate interpretation of these variants is crucial for diagnosing genetic disorders.

Purpose of the Study:

To develop and validate an integrated workflow for assessing the functional impact of splice-altering non-coding variants.
To refine the interpretation of variants detected through clinical genomics.

Main Methods:

An integrative approach combining in silico splice prediction, minigene assays, and long-read RNA sequencing.
Application to a de novo intronic deletion in the FOXP1 gene associated with a neurodevelopmental disorder.

Main Results:

The workflow demonstrated impaired exon recognition and identified multiple aberrant transcript isoforms.
These findings support a loss-of-function mechanism for the FOXP1 variant, consistent with haploinsufficiency.

Conclusions:

Experimental and transcriptomic analyses are essential for functionally characterizing splice-altering variants.
This workflow enhances the interpretation of non-coding variants in clinical genomics, improving diagnostic yield.