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Related Concept Videos

Alternative RNA Splicing02:18

Alternative RNA Splicing

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.
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 Splicing02:18

Alternative RNA Splicing

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.
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...
RNA Splicing01:32

RNA Splicing

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...
RNA Splicing01:32

RNA Splicing

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...
What is Gene Expression?01:36

What is Gene Expression?

A gene is a stretch of DNA that serves as the blueprint for functional RNAs and proteins. Since DNA is comprised  of nucleotides and proteins are comprised of amino acids, a mediator is required to convert the information encoded in DNA into proteins. This mediator is the messenger RNA (mRNA). mRNA copies the blueprint from DNA by a process called transcription. In eukaryotes, transcription occurs in the nucleus by complementary base-pairing with the DNA template. The mRNA is then processed and...
Chromatin Structure Regulates pre-mRNA Processing02:41

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...

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Using the E1A Minigene Tool to Study mRNA Splicing Changes
10:25

Using the E1A Minigene Tool to Study mRNA Splicing Changes

Published on: April 22, 2021

Using mini-genes to identify factors that modulate alternative splicing.

Robert Morse1, Adrian G Todd, Philip J Young

  • 1Clinical Neurobiology, Peninsula Medical School, University of Exeter, Exeter, UK.

Methods in Molecular Biology (Clifton, N.J.)
|March 29, 2012
PubMed
Summary
This summary is machine-generated.

Genetic mutations can disrupt alternative splicing, impacting genes like SMN1 and SMN2. This study details methods for screening drugs and proteins to correct splicing defects, potentially treating conditions like spinal muscular atrophy.

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Area of Science:

  • Molecular Biology
  • Genetics
  • Drug Discovery

Background:

  • Genetic mutations frequently disrupt alternative splicing, a critical process in gene expression.
  • The SMN1 and SMN2 genes are key examples, where alternative splicing of exon 7 is altered in SMN2.
  • Deficiency in SMN protein, often due to SMN1 gene issues, causes spinal muscular atrophy (SMA).

Purpose of the Study:

  • To describe methods for screening candidate proteins and drugs.
  • To investigate compounds that can modulate alternative splicing events.
  • To focus on increasing the inclusion of exon 7 in SMN2 transcripts.

Main Methods:

  • Utilizing mini-gene assays to study alternative splicing.
  • Developing screening methods for potential therapeutic agents.
  • Employing techniques to identify proteins and drugs affecting splicing.

Main Results:

  • The study provides a framework for identifying modulators of alternative splicing.
  • The described methods are applicable to screening for compounds targeting SMN2 splicing.
  • Candidate proteins and drugs can be evaluated for their efficacy in correcting splicing defects.

Conclusions:

  • Effective screening methods are crucial for developing therapies for splicing-related disorders.
  • Targeting alternative splicing of SMN2 offers a therapeutic strategy for spinal muscular atrophy.
  • The described mini-gene approach facilitates the discovery of novel therapeutic candidates.