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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...
Exon Recombination02:32

Exon Recombination

The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes. 
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

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Related Experiment Video

Updated: May 10, 2026

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
11:48

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition

Published on: October 9, 2014

Aberrant and alternative splicing in skeletal system disease.

Xin Fan1, Liling Tang

  • 1Key Laboratory of Biorheological Science and Technology, Ministry of Education, College of Bioengineering, Chongqing University, Chongqing 400044, China.

Gene
|June 27, 2013
PubMed
Summary

Pre-mRNA splicing impacts skeletal system health. Aberrant splicing causes genetic diseases, while alternative splicing generates disease markers, offering gene therapy insights.

Keywords:
BiomarkerCD44COL1A1EDAFGFR3FLSFNLRP5MSCMutationOIOPSRASEDL or SEDTSkeletal system diseaseSplice siteSplicingTRAPPC2VEGF or VEGF-AVEGF receptorVEGFRalpha 1 type I collagencluster of differentiation 44extra domain Afibroblast growth factor receptor 3fibroblast-like synoviocytesfibronectinlipoprotein receptor-related protein 5mesenchymal stem cellsosteogenesis imperfectosteoporosis-pseudoglioma syndromerheumatoid arthritisspondyloepiphyseal dysplasia tardatrafficking protein particle complex 2vascular endothelial growth factor

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Using the E1A Minigene Tool to Study mRNA Splicing Changes

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Last Updated: May 10, 2026

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Area of Science:

  • Genetics
  • Molecular Biology
  • Skeletal Biology

Background:

  • The skeletal system provides support and enables movement.
  • Skeletal diseases arise from factors like genetics, age, and exercise.
  • Pre-messenger RNA (pre-mRNA) splicing is vital for gene expression, producing diverse protein variants.

Purpose of the Study:

  • To review the intricate relationship between pre-mRNA splicing and skeletal system diseases.
  • To highlight how splicing alterations contribute to skeletal pathologies.
  • To explore the diagnostic potential of splicing-derived protein isoforms.

Main Methods:

  • Literature review of studies linking pre-mRNA splicing to skeletal disorders.
  • Analysis of genetic mutations affecting splice sites in skeletal diseases.
  • Examination of alternative splicing events generating disease-associated protein isoforms.

Main Results:

  • Splice site mutations are implicated in genetic skeletal diseases such as COL1A1, SEDL, and LRP5.
  • Alternative splicing, independent of genomic mutation, can produce relevant protein isoforms like FN, VEGF, and CD44.
  • These isoforms may serve as markers for skeletal system diseases.

Conclusions:

  • Understanding pre-mRNA splicing mechanisms is crucial for elucidating skeletal disease pathogenesis.
  • Investigating splicing alterations offers potential for novel diagnostic and therapeutic strategies.
  • Gene therapy targeting aberrant splicing holds promise for treating genetic skeletal disorders.