Related Experiment Video
Updated: Dec 7, 2025

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
Published on: October 9, 2014
Alternative Splicing Regulation of an Alzheimer's Risk Variant in CLU
Seonggyun Han1, Kwangsik Nho2,3, Younghee Lee1
1Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.
Abstract:
Clusterin (CLU) is one of the risk genes most associated with late onset Alzheimer's disease (AD), and several genetic variants in CLU are associated with AD risk. However, the functional role of known AD risk genetic variants in CLU has been little explored. We investigated the effect of an AD risk variant (rs7982) in the 5th exon of CLU on alternative splicing by using an integrative approach of brain-tissue-based RNA-Seq and whole genome sequencing data from Accelerating Medicines Partnership-Alzheimer's Disease (AMP-AD). RNA-Seq data were generated from three regions in the temporal lobe of the brain-the temporal cortex, superior temporal gyrus, and parahippocampal gyrus. The rs7982 was significantly associated with intron retention (IR) of the 5th exon of CLU; as the number of alternative alleles (G) increased, the IR rates decreased more significantly in females than in males. Our results suggest a sex-dependent role of rs7982 in AD pathogenesis via splicing regulation.
More Related Videos
07:26High-resolution Melting PCR for Complement Receptor 1 Length Polymorphism Genotyping: An Innovative Tool for Alzheimer's Disease Gene Susceptibility Assessment
Published on: July 18, 2017
08:53A Reporter Based Cellular Assay for Monitoring Splicing Efficiency
Published on: September 15, 2021
Related Concept Videos
RNA Splicing
Alternative RNA Splicing
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 Splicing
Chromatin Structure Regulates pre-mRNA Processing
The chromatin structure, especially...
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon...
Comparing Copy Number Variations and SNPs
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%...