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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. 
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G-protein Coupled Receptors01:21

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Related Experiment Video

Updated: Jun 6, 2026

Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons
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Identification and Classification of Position-specific GABAA Receptor Subunit Missense Variants for Their Role In Hippocampal Pyramidal Neurons

Published on: June 6, 2025

Intron 4 containing novel GABAB1 isoforms impair GABAB receptor function.

Changhoon Lee1, R Dayne Mayfield, R Adron Harris

  • 1Section of Neurobiology and Institute for Cellular and Molecular Biology, Waggoner Center for Alcohol and Addiction Research, The University of Texas at Austin, Austin, Texas, USA.

Plos One
|December 3, 2010
PubMed
Summary

Researchers identified novel splice variants of the GABAB1 gene, including GABAB1l and GABAB1m, which impair GABAB receptor function. These variants, arising from intron 4 splicing, suggest a new mechanism for regulating neural activity.

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Inhibitory Synapse Formation in a Co-culture Model Incorporating GABAergic Medium Spiny Neurons and HEK293 Cells Stably Expressing GABAA Receptors
07:51

Inhibitory Synapse Formation in a Co-culture Model Incorporating GABAergic Medium Spiny Neurons and HEK293 Cells Stably Expressing GABAA Receptors

Published on: November 14, 2014

Area of Science:

  • Neuroscience
  • Molecular Biology
  • Genetics

Background:

  • Gamma-aminobutyric acid type B (GABAB) receptors modulate neural activity via G protein signaling.
  • The GABAB1 subunit exhibits diversity through alternative splicing.
  • Previous studies indicated potential novel splice variants from GABAB1 intron 4.

Purpose of the Study:

  • To identify and characterize novel splice variants of the GABAB1 gene.
  • To investigate the functional impact of newly discovered GABAB1 isoforms.

Main Methods:

  • Sequence analysis of cDNA microarrays and PCR.
  • Quantitative real-time PCR for expression analysis.
  • Xenopus oocyte two-electrode voltage clamp for functional assays.

Main Results:

  • Two potential splice variants, GABAB1j and GABAB1k, were initially proposed.
  • Human and rodent GABAB1j, GABAB1k, GABAB1l, GABAB1m, and GABAB1n were identified.
  • GABAB1l and GABAB1m isoforms inhibit GABAB receptor-mediated GIRK currents.

Conclusions:

  • Intron 4 of the GABAB1 gene is a significant site for alternative splicing across species.
  • GABAB1l and GABAB1m are truncated variants that impair GABAB receptor function.
  • N-terminal truncation within intron 4 is crucial for the inhibitory action of these new splice variants.