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Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
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Chromatin Structure Regulates pre-mRNA Processing

In eukaryotic cells, nascent mRNA transcripts need to undergo many post-transcriptional modifications to reach the cell cytoplasm and translate into functional proteins. For a long time, transcription and pre-mRNA processing were considered two independent events that occur sequentially in the cell. However, it has now been well established that transcription and pre-mRNA processing are two simultaneous processes that are precisely regulated inside the cell.
The chromatin structure, especially...
The JAK-STAT Signaling Pathway01:20

The JAK-STAT Signaling Pathway

Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as  SH2...
Hedgehog Signaling Pathway02:33

Hedgehog Signaling Pathway

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Alternative RNA Splicing02:18

Alternative RNA Splicing

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Related Experiment Video

Updated: May 24, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

Sp1 regulates human huntingtin gene expression.

Ruitao Wang1, Yawen Luo, Philip T T Ly

  • 1Townsend Family Laboratories, Department of Psychiatry, Brain Research Center, Graduate Program in Neuroscience, The University of British Columbia, 2255 Wesbrook Mall, Vancouver, Canada, BC V6T 1Z3.

Journal of Molecular Neuroscience : MN
|March 9, 2012
PubMed
Summary

Sp1 protein regulates human huntingtin gene expression, impacting Huntington's disease (HD) pathogenesis. Dysregulation of Sp1-mediated huntingtin transcription contributes to HD, alongside mutant huntingtin's toxic effects.

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

Published on: December 10, 2021

Related Experiment Videos

Last Updated: May 24, 2026

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
07:08

Fractionation for Resolution of Soluble and Insoluble Huntingtin Species

Published on: February 27, 2018

Efficient and Scalable Production of Full-length Human Huntingtin Variants in Mammalian Cells using a Transient Expression System
10:52

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:

  • Neurogenetics
  • Molecular Biology
  • Gene Regulation

Background:

  • Huntington's disease (HD) is a hereditary neurodegenerative disorder caused by expanded polyglutamine tracts in the huntingtin protein.
  • Neuronal loss in the striatum and cortex is a hallmark of HD, linked to mutant huntingtin (HTT) toxicity and potentially impaired wild-type HTT function.
  • Mechanisms governing HTT gene expression remain incompletely understood, hindering therapeutic development.

Purpose of the Study:

  • To elucidate the regulatory mechanisms of the human huntingtin (htt) gene promoter.
  • To identify key transcription factors involved in htt gene expression.
  • To investigate the role of Sp1 in htt gene regulation and its potential contribution to HD pathogenesis.

Main Methods:

  • Cloning and characterization of the 5' flanking region of the human htt gene.
  • Identification of the minimal promoter region and putative regulatory elements using sequence analysis.
  • Functional assays to assess the impact of Sp1 on htt gene transcription.

Main Results:

  • A 106-bp fragment containing the transcription start site was identified as the minimal htt promoter.
  • Putative regulatory elements including Sp1, NF-κB, and HIF were identified in the promoter region.
  • Functional Sp1 response elements were confirmed; Sp1 enhanced htt transcription, while Sp1 inhibition reduced it at both mRNA and protein levels.

Conclusions:

  • Sp1 is a critical regulator of human huntingtin gene expression.
  • Dysregulation of Sp1-mediated huntingtin transcription may contribute to HD pathogenesis.
  • Targeting Sp1-mediated pathways could offer novel therapeutic strategies for Huntington's disease.