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Related Concept Videos

Pre-mRNA Processing: RNA Splicing01:32

Pre-mRNA Processing: 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...
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...
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...
Pre-mRNA Processing02:01

Pre-mRNA Processing

In eukaryotic cells, transcripts made by RNA polymerase are modified and processed before exiting the nucleus. Unprocessed RNA is called precursor mRNA or pre-mRNA to distinguish it from mature mRNA.
Once about 20-40 ribonucleotides have been joined together by RNA polymerase, a group of enzymes adds a “cap” to the 5’ end of the growing transcript. In this process, a 5’ phosphate is replaced by modified guanosine that has a methyl group attached to it (7-Methyl guanosine). This 5’ cap helps the...

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Related Experiment Video

Updated: May 31, 2026

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 positional distribution to identify splicing elements and predict pre-mRNA processing defects in human genes.

Kian Huat Lim1, Luciana Ferraris, Madeleine E Filloux

  • 1Department of Molecular and Cellular Biology and Biochemistry, Brown University, 70 Ship Street, Providence, RI 02903, USA.

Proceedings of the National Academy of Sciences of the United States of America
|June 21, 2011
PubMed
Summary
This summary is machine-generated.

Predicting pre-mRNA splicing changes due to sequence variation is now intuitive. A novel method analyzes motif positional distribution, identifying splicing mutations and revealing that about one-third of disease-causing mutations affect splicing.

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Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
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Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

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Last Updated: May 31, 2026

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 RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models
09:58

Using RNA-sequencing to Detect Novel Splice Variants Related to Drug Resistance in In Vitro Cancer Models

Published on: December 9, 2016

Area of Science:

  • Molecular Biology
  • Genetics
  • Bioinformatics

Background:

  • Splicing elements exhibit strong position dependence, unlike transcriptional elements.
  • Exonic binding of U2AF65, an intronic splicing factor, inhibits splicing.
  • Understanding the functional significance of splicing element positional distribution is crucial.

Purpose of the Study:

  • To develop an intuitive strategy for predicting sequence variation effects on pre-mRNA splicing.
  • To cluster sequence motifs based on their genomic positional distribution around splice sites.
  • To assess the predictive power of this method for splicing mutations and disease alleles.

Main Methods:

  • Clustering sequence motifs based on their positional distribution profiles around splice sites.
  • Analyzing binding sites for serine/arginine rich (SR) proteins (exonic) and heterogeneous ribonucleoprotein (hnRNP) recognition elements (intronic).
  • Developing an intraallelic distance measure to quantify motif distribution changes post-mutation.

Main Results:

  • The method successfully identified known and novel splicing motifs.
  • Binding sites for SR proteins were predominantly exonic, while hnRNP elements were mostly intronic.
  • Mutations creating large intraallelic distances significantly disrupted splicing in vivo.
  • Analysis of human disease alleles indicated that approximately one-third of disease-causing mutations alter pre-mRNA splicing, including a subset of missense mutations.

Conclusions:

  • Positional distribution of sequence motifs serves as a signature for splicing element function.
  • The developed method accurately predicts the impact of sequence variations on splicing.
  • A significant proportion of human genetic diseases may be caused by splicing alterations.