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RNA-seq

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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases.
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Updated: Jul 15, 2025

Purification of Transcripts and Metabolites from Drosophila Heads

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Published on: March 15, 2013

Investigating Neuron Degeneration in Huntington's Disease Using RNA-Seq Based Transcriptome Study.

Nela Pragathi Sneha¹, S Akila Parvathy Dharshini¹, Y-H Taguchi²

¹Department of Biotechnology, Bhupat and Jyoti Mehta School of Biosciences, Indian Institute of Technology Madras, Chennai 600036, Tamil Nadu, India.

|September 28, 2023

Summary

This summary is machine-generated.

Huntington's disease (HD) involves CAG repeat expansions in the huntingtin gene, affecting motor function. This study links genetic variants to gene expression changes in the primary motor cortex, revealing immune cell genes crucial for reducing neuron death in HD.

Keywords:

Brodmann area 4 Huntington’s disease function interaction network tissue-specific network analysis variant effect

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Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System

Published on: December 10, 2021

Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Huntington's disease (HD) is a progressive neurodegenerative disorder caused by CAG repeat expansion in the huntingtin (HTT) gene.
Motor dysfunction, including chorea and dystonia, are primary symptoms, originating from the primary motor cortex (BA4).
Previous research focused on differential gene expression, but the link between variants and gene expression in HD BA4 remains underexplored.

Purpose of the Study:

To investigate the relationship between genetic variants and differentially expressed genes/transcripts in the primary motor cortex (BA4) of Huntington's disease patients.
To identify potential regulatory variants affecting gene expression, miRNA targets, and novel genes.
To understand the functional networks and pathways involved in neurodegeneration in HD.

Main Methods:

Variant identification and association with gene/transcript quantification.
Prediction of variant effects on regulatory activities, including miRNA-target interactions.
Co-expression network and functional interaction network analyses.

Main Results:

Identified variants associated with differential gene expression in the BA4 region.
Demonstrated that many variants regulate gene expression and affect miRNA-target interactions.
Co-expression networks highlighted novel genes, and functional networks emphasized vesicle-mediated transport pathways.

Conclusions:

Genes expressed in immune cells are proposed as crucial for mitigating neuron death in Huntington's disease.
This unified approach provides a deeper understanding of the genetic underpinnings of neuron degeneration in HD.
The findings suggest potential therapeutic targets related to immune response and vesicle transport in HD.