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Exon Recombination02:32

Exon Recombination

3.9K
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...
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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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Notch Signaling Pathway03:14

Notch Signaling Pathway

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The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
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Chromatin Structure Regulates pre-mRNA Processing02:41

Chromatin Structure Regulates pre-mRNA Processing

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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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The Retinoblastoma Gene01:20

The Retinoblastoma Gene

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Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
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Nuclear Export of mRNA02:31

Nuclear Export of mRNA

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Before mRNAs are exported to the cytoplasm, it is crucial to check each mRNA for structural and functional integrity. Eukaryotic cells use several different mechanisms, collectively known as mRNA surveillance, to look for irregularities in mRNAs. Irregular or aberrant mRNA are rapidly degraded by various enzymes. If a defective mRNA escapes the surveillance, it would be translated into a protein which would either be non-functional or not function properly. One of the primary irregularities in...
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Related Experiment Video

Updated: Dec 2, 2025

Induction of Protein Deletion Through In Utero Electroporation to Define Deficits in Neuronal Migration in Transgenic Models
12:01

Induction of Protein Deletion Through In Utero Electroporation to Define Deficits in Neuronal Migration in Transgenic Models

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Full function of exon junction complex factor, Rbm8a, is critical for interneuron development.

Colleen McSweeney1, Fengping Dong1, Miranda Chen1

  • 1Department of Biology, Pennsylvania State University, University Park, PA, 16802, USA.

Translational Psychiatry
|November 6, 2020
PubMed
Summary
This summary is machine-generated.

Rbm8a is crucial for brain development. Its disruption impairs neural progenitor cells, leading to reduced interneurons and cortical deficits, potentially linking to neurodevelopmental disorders.

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Ex Utero Electroporation and Organotypic Slice Cultures of Embryonic Mouse Brains for Live-Imaging of Migrating GABAergic Interneurons
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Ex Utero Electroporation and Organotypic Slice Culture of Mouse Hippocampal Tissue
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Related Experiment Videos

Last Updated: Dec 2, 2025

Induction of Protein Deletion Through In Utero Electroporation to Define Deficits in Neuronal Migration in Transgenic Models
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Ex Utero Electroporation and Organotypic Slice Cultures of Embryonic Mouse Brains for Live-Imaging of Migrating GABAergic Interneurons
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Ex Utero Electroporation and Organotypic Slice Culture of Mouse Hippocampal Tissue
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Ex Utero Electroporation and Organotypic Slice Culture of Mouse Hippocampal Tissue

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Area of Science:

  • Neuroscience
  • Developmental Biology
  • Genetics

Background:

  • Proper nervous system formation relies on neural progenitor cell (NPC) proliferation, differentiation, and migration.
  • Genetic mutations impacting neurogenesis are linked to neuropsychiatric conditions like autism spectrum disorders (ASDs) and schizophrenia (SZ).
  • Nonsense-mediated mRNA decay (NMD) gene mutations are increasingly associated with ASDs, intellectual disability (ID), and SZ.

Purpose of the Study:

  • To investigate the function of Rbm8a, a gene in the exon junction complex, in mammalian cortical development.
  • To determine the impact of Rbm8a disruption on neural progenitor cells and interneuron development.
  • To explore the potential link between Rbm8a dysfunction and neurodevelopmental disorders.

Main Methods:

  • Selective knockout of Rbm8a in neural stem cells and NKX2.1 interneuron progenitor cells in mice.
  • Phenotypic analysis including microcephaly assessment, survival rates, and neuronal distribution studies.
  • Transcriptomic analysis to identify differentially expressed genes.
  • Electrophysiological recordings to measure GABA frequency in cortical neurons.

Main Results:

  • Rbm8a knockout in neural stem cells resulted in microcephaly, early lethality, and altered excitatory neuron distribution.
  • Rbm8a haploinsufficiency reduced progenitor proliferation in ganglionic eminences and significantly decreased parvalbumin+ and neuropeptide Y+ interneurons.
  • Conditional knockout in NKX2.1+ progenitors impaired interneuron progenitor proliferation and altered interneuron distribution, with decreased GABA frequency observed in cortical neurons.
  • Transcriptomic data revealed enrichment of genes involved in telencephalon development and mitosis.

Conclusions:

  • Rbm8a plays a critical role in interneuron development and overall cortical formation.
  • Perturbation of Rbm8a leads to significant cortical deficits, including altered interneuron populations and function.
  • These findings highlight Rbm8a as a potential genetic factor in neurodevelopmental disorders.