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RNA Splicing01:32

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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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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.
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The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
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Related Experiment Video

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Fractionation for Resolution of Soluble and Insoluble Huntingtin Species
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MAP2 Splicing is Altered in Huntington's Disease.

Jorge Rubén Cabrera1,2, José J Lucas1,2

  • 1Centro de Biología Molecular Severo Ochoa (CBMSO), Consejo Superior de Investigaciones Científicas (CSIC) - Universidad Autónoma de Madrid (UAM), Madrid, 28049, Spain.

Brain Pathology (Zurich, Switzerland)
|April 22, 2016
PubMed
Summary

Huntington's disease (HD) involves altered splicing of MAP2, a key protein in neuron dendrites. This study shows changes in MAP2 isoforms contribute to dendritic atrophy in HD patients.

Keywords:
Huntington's diseaseMAP2SRSF6dendritesplicing

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Area of Science:

  • Neuroscience
  • Molecular Biology
  • Genetics

Background:

  • Dendritic abnormalities in medium spiny neurons are early signs of Huntington's disease (HD).
  • Microtubule-associated protein 2 (MAP2) is crucial for dendrites, with specific isoforms (LMW-MAP2 and HMW-MAP2) regulated during development.
  • Splicing alterations, particularly involving SRSF6, are implicated in HD pathogenesis.

Purpose of the Study:

  • To investigate if MAP2 is a target of SRSF6 and if its splicing is altered in HD.
  • To determine the impact of these alterations on MAP2 expression and dendritic morphology in HD.

Main Methods:

  • SRSF6 knockdown in neuroblastoma cells to assess its effect on MAP2 exon splicing.
  • Analysis of MAP2 mRNA and protein isoform levels in HD striatal tissue.
  • Immunohistochemical staining for MAP2 in control and HD brain samples.

Main Results:

  • SRSF6 knockdown affects the splicing of MAP2 exons E7-E9.
  • HD striatum shows a shift towards juvenile LMW-MAP2 isoforms and decreased total MAP2 mRNA and protein.
  • HMW-MAP2 isoforms are largely absent in HD, while LMW-MAP2 isoforms are preserved, leading to reduced dendritic MAP2 staining.

Conclusions:

  • Splicing alterations, specifically involving SRSF6 and MAP2, are significant in Huntington's disease.
  • The observed imbalance in MAP2 isoforms contributes to the dendritic atrophy characteristic of HD.
  • MAP2 alterations represent a key pathological mechanism in HD neurodegeneration.