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Related Concept Videos

RNA Splicing01:32

RNA Splicing

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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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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. 
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Alternative RNA Splicing02:18

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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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During most eukaryotic translation processes, the small 40S ribosome subunit scans an mRNA from its 5' end until it encounters the first start AUG codon. The large 60S ribosomal subunit then joins the smaller one to initiate protein synthesis. The location of the translation initiation is largely determined by the nucleotides near the start codon as there may be multiple translation initiation sites present on the mRNA.  Marilyn Kozak discovered that the sequence RCCAUGG (where R...
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Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
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Related Experiment Video

Updated: May 11, 2025

ACT1-CUP1 Assays Determine the Substrate-Specific Sensitivities of Spliceosomal Mutants in Budding Yeast
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SRSF9-Mediated Exon Recognition Promotes Exon 2 Inclusion in Mecp2 Pre-mRNA Alternative Splicing.

Saya Oshizuki1, So Masaki1, Satoshi Tanaka1

  • 1Laboratory of Cellular Biochemistry, Department of Animal Resource Sciences, Graduate School of Agricultural and Life Sciences, The University of Tokyo, Tokyo 113-8657, Japan.

International Journal of Molecular Sciences
|April 17, 2025
PubMed
Summary
This summary is machine-generated.

Alternative splicing of the Methyl CpG Binding Protein 2 (Mecp2) gene produces distinct protein isoforms. This study reveals exon 2 inclusion is crucial, mediated by splicing enhancers and SRSF9.

Keywords:
MeCP2SRSF9alternative splicingexon recognition

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Area of Science:

  • Molecular Biology
  • Genetics
  • Neuroscience

Background:

  • Alternative splicing generates protein diversity from a limited gene set in eukaryotes.
  • Mutations in the Methyl CpG Binding Protein 2 (Mecp2) gene cause Rett syndrome.
  • Mecp2 produces two isoforms, MeCP2E1 and MeCP2E2, via alternative splicing, suggesting distinct functions.

Purpose of the Study:

  • To elucidate the molecular mechanism governing Mecp2 pre-mRNA alternative splicing.
  • To understand how specific isoforms of Mecp2 are generated.

Main Methods:

  • Analysis of Mecp2 pre-mRNA splicing patterns.
  • Identification of splice sites and regulatory elements within Mecp2 pre-mRNA.
  • Investigating the role of exonic splicing enhancers (ESEs) and splicing factors.

Main Results:

  • Mecp2 exon 2 is efficiently recognized due to strong adjacent splice sites.
  • An exonic splicing enhancer (ESE) within exon 2 significantly promotes exon 2 inclusion.
  • SRSF9 is identified as a likely mediator of this ESE activity.

Conclusions:

  • The alternative splicing of Mecp2 pre-mRNA is regulated by specific sequence elements and protein factors.
  • Exon 2 inclusion, critical for generating functional Mecp2 isoforms, is promoted by an ESE likely interacting with SRSF9.
  • Understanding this mechanism is vital for insights into Rett syndrome pathogenesis.