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RNA Splicing

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 Splicing

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 Splicing

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 Splicing

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...

Chromatin Structure Regulates pre-mRNA Processing

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.
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Multi-species Conserved Sequences

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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale studies have provided new insights into the evolutionary relationship between organisms.
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Related Experiment Video

Updated: Jun 20, 2026

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

Published on: June 30, 2022

Intron 7 conserved sequence elements regulate the splicing of the SMN genes.

Jordan T Gladman¹, Dawn S Chandler

¹The Research Institute at Nationwide Children's Hospital, Department of Pediatrics, The Ohio State University, Columbus, OH 43205, USA. Jordan.Gladman@nationwidechildrens.org

|August 25, 2009

Summary

Researchers discovered a novel intronic splicing enhancer in survival motor neuron (SMN) genes. This finding sheds light on spinal muscular atrophy (SMA) disease mechanisms and may lead to new therapeutic strategies.

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Using the E1A Minigene Tool to Study mRNA Splicing Changes

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ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast

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Published on: June 30, 2022

Using the E1A Minigene Tool to Study mRNA Splicing Changes

Using the E1A Minigene Tool to Study mRNA Splicing Changes

Published on: April 22, 2021

Area of Science:

Molecular Biology
Genetics
Neuroscience

Background:

Spinal muscular atrophy (SMA) is a neuromuscular disease linked to reduced survival motor neuron (SMN) protein levels.
The SMN2 gene, unlike SMN1, produces a truncated protein due to altered exon 7 splicing, contributing to SMA pathogenesis.

Purpose of the Study:

To identify conserved intronic sequences within SMN genes that regulate exon 7 splicing.
To investigate the functional role of these sequences in pre-messenger RNA splicing.

Main Methods:

Analysis of conserved intronic sequences near SMN exons 6-8.
Site-directed mutagenesis to assess the impact of sequence alterations on exon 7 splicing.
Deletion and multimerization studies to confirm the function of identified elements.

Main Results:

Two conserved elements in intron 7 of SMN genes were identified as critical for exon 7 splicing.
Mutations within these elements led to decreased exon 7 inclusion in SMN transcripts.
Multimerization of a specific conserved region restored correct SMN splicing.

Conclusions:

A novel intronic splicing enhancer in the SMN genes has been identified.
This discovery enhances understanding of SMN pre-messenger RNA splicing regulation.
Insights gained may facilitate the development of novel therapeutic approaches for SMA.