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

You might also read

Related Articles

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

Sort by

Same author

Secreted GPNMB enhances uptake of fibrillar alpha-synuclein in a non-cell-autonomous process that can be blocked by anti-GPNMB antibodies.

Neuron·2026

Same author

Medial temporal lobe Tau-Neurodegeneration mismatch from structural imaging and plasma biomarkers.

Brain : a journal of neurology·2026

Same author

Microglia protein profiles in CSF across Alzheimer's disease clinical stages.

Nature aging·2026

Same author

Microglial reactivity in the hippocampal CA2 is associated with advanced neuronal α-synucleinopathy.

bioRxiv : the preprint server for biology·2026

Same author

Secreted GPNMB enhances uptake of fibrillar alpha-synuclein in a non-cell-autonomous process that can be blocked by anti-GPNMB antibodies.

medRxiv : the preprint server for health sciences·2026

Same author

Basic Science and Pathogenesis.

Alzheimer's & dementia : the journal of the Alzheimer's Association·2025

Same journal

Editorial: Technologies for RNA Detection.

Bio-protocol·2026

Same journal

One-Step Affinity Purification of MarathonRT Reverse Transcriptase for RNA Sequencing Applications.

Bio-protocol·2026

Same journal

Enhanced RNA-Seq Expression Profiling and Functional Enrichment in Non-model Organisms Using Custom Annotations.

Bio-protocol·2026

Same journal

Using Combined Fluorescent In Situ Hybridization With Immunohistochemistry to Co-localize mRNA in Diverse Neuronal Cell Types.

Bio-protocol·2026

Same journal

Stepwise Protocol for Alternative Splicing Analysis in Single-Cell SMART-Seq2 RNA-Seq Data.

Bio-protocol·2026

Same journal

Enriching Bacteria-Specific RNA From Host Samples Before NGS With Transcript-Capture.

Bio-protocol·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Jul 14, 2025

A Chromatin Assay for Human Brain Tissue

A Chromatin Assay for Human Brain Tissue

Published on: March 21, 2008

Testing for Allele-specific Expression from Human Brain Samples.

Maria E Diaz-Ortiz¹, Nimansha Jain², Michael D Gallagher³

¹Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

|October 11, 2023

Summary

This summary is machine-generated.

This study introduces a sensitive RNA CaptureSeq method to analyze allele-specific expression (ASE) of Parkinson's disease (PD) risk genes in human brain tissue, enhancing genetic studies.

Keywords:

Allele-specific expression (ASE)Expression quantitative trait locus (eQTL)Human brain Neurodegeneration RNA CaptureSeq

More Related Videos

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Combining Double Fluorescence In Situ Hybridization with Immunolabelling for Detection of the Expression of Three Genes in Mouse Brain Sections

Combining Double Fluorescence In Situ Hybridization with Immunolabelling for Detection of the Expression of Three Genes in Mouse Brain Sections

Published on: March 26, 2016

Related Experiment Videos

Last Updated: Jul 14, 2025

A Chromatin Assay for Human Brain Tissue

A Chromatin Assay for Human Brain Tissue

Published on: March 21, 2008

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

Combining Double Fluorescence In Situ Hybridization with Immunolabelling for Detection of the Expression of Three Genes in Mouse Brain Sections

Combining Double Fluorescence In Situ Hybridization with Immunolabelling for Detection of the Expression of Three Genes in Mouse Brain Sections

Published on: March 26, 2016

Area of Science:

Genetics
Neuroscience
Molecular Biology

Background:

Genome-wide association studies (GWAS) identify single nucleotide polymorphisms (SNPs) linked to disease risk.
Many SNPs function as expression quantitative trait loci (eQTLs) through allele-specific expression (ASE).
Existing databases lack eQTL/ASE data for specific tissues or disease states.

Purpose of the Study:

To present a protocol for assessing allele-specific expression (ASE) in postmortem human brain tissue.
To investigate ASE of GPNMB and KLHL7, genes associated with Parkinson's disease (PD) risk loci.
To provide a sensitive method applicable to various genes, tissues, and diseases.

Main Methods:

RNA isolation and cDNA library generation from postmortem human brain tissue.
Enrichment of target transcripts (GPNMB, KLHL7) using customizable cDNA capture probes (RNA CaptureSeq).
Paired-end RNA sequencing and subsequent data analysis.

Main Results:

Successfully analyzed GPNMB allele-specific expression (ASE) in brain lysates from Parkinson's disease (PD) and normal controls.
The RNA CaptureSeq method demonstrated increased sensitivity compared to bulk RNA sequencing.
The protocol was optimized for human brain tissue from specific regions (cingulate gyrus, caudate nucleus, cerebellum).

Conclusions:

The developed RNA CaptureSeq protocol offers a sensitive approach for studying allele-specific expression in human tissues.
This method enhances the investigation of genetic risk factors in diseases like Parkinson's.
The protocol serves as a blueprint for future studies on eQTLs and ASE in diverse biological contexts.