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Related Concept Videos

Alternative RNA Splicing02:18

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...
Alternative RNA Splicing02:18

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 Splicing01:32

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...
Pre-mRNA Processing: RNA Splicing01:32

Pre-mRNA Processing: 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...

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Related Experiment Video

Updated: Jun 26, 2026

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

Investigating Alzheimer's Disease-Associated Genes Using Differential Splicing Frequency Analysis.

Yang Yao1, Sha Zhou2,3, Zhi Cheng2

  • 1Department of Neurology, Tianjin First Central Hospital, Nankai University, Tianjin 300192, China.

Cells
|June 25, 2026
PubMed
Summary
This summary is machine-generated.

A new method, differential splicing frequency analysis (DSFA), accurately quantifies transcript isoforms. This approach revealed specific APP gene isoforms in Alzheimer's disease (AD) and immune cells, advancing isoform analysis in complex diseases.

Keywords:
APOEDGEAalternative splicingsplice junction usagetranscriptome analysis

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Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay
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Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

Published on: August 26, 2018

Related Experiment Videos

Last Updated: Jun 26, 2026

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data
08:35

Identification of Alternative Splicing and Polyadenylation in RNA-seq Data

Published on: June 24, 2021

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay
11:22

Quantitative Analysis of Alternative Pre-mRNA Splicing in Mouse Brain Sections Using RNA In Situ Hybridization Assay

Published on: August 26, 2018

Area of Science:

  • Genomics
  • Molecular Biology
  • Bioinformatics

Background:

  • Quantifying individual transcript isoform expression is challenging, particularly in diseases like cancer and neurodegeneration with high isoform diversity.
  • Existing methods for analyzing differential splicing (exon-, isoform-, and event-based) have limitations in sensitivity.

Purpose of the Study:

  • Introduce a novel junction-based method, differential splicing frequency analysis (DSFA), for sensitive detection of differential splicing using RNA-seq data.
  • Apply DSFA to Alzheimer's disease (AD)-associated genes to identify and characterize major APP gene isoforms and their expression patterns.

Main Methods:

  • Developed and applied differential splicing frequency analysis (DSFA), a method quantifying splice junction usage.
  • Utilized large-scale RNA-seq data mining for analyzing APP gene isoforms in various cellular contexts.
  • Investigated the role of U1 snRNA in regulating APP splice junction usage in human embryonic stem cell (hESC)-derived neurons.

Main Results:

  • Established APP770, APP751, APP695, and APP752 as major APP gene isoforms.
  • Identified APP752 isoform specificity in immune cells and its increased proportion during iPSC differentiation into microglia.
  • Observed APP751 isoform predominance in cancer and immune cells, and APP695 isoform increase during iPSC differentiation into neurons.
  • Detected differentially expressed splice junctions APP/58417N (human) and App/52804N (mouse).
  • Demonstrated that U1 snRNA overexpression decreases APP/58417N usage in neurons, mirroring AD sample effects.

Conclusions:

  • DSFA offers a more sensitive approach for detecting differential splicing compared to existing methods.
  • Major gene isoforms can exhibit distinct tissue and cell-type specific expression patterns.
  • Findings provide insights into APP isoform regulation and potential roles in AD and other conditions.