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Related Concept Videos

Exon Recombination02:32

Exon Recombination

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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. 
Exon shuffling follows “splice frame rules.” Each exon...
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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Alternative RNA Splicing02:18

Alternative RNA Splicing

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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.
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...
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Related Experiment Video

Updated: Jan 18, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Long-Read Sequencing of a Neurodevelopmental Disorder Patient Reveals Complex Rearrangement Involving the ARID1B

Tam P Sneddon1,2, Scott A Melville2, Mai Xiong1

  • 1Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, North Carolina, USA.

American Journal of Medical Genetics. Part A
|September 11, 2025
PubMed
Summary

Long-read sequencing successfully identified a complex ARID1B gene rearrangement missed by previous genetic tests. This advanced sequencing method is crucial for diagnosing rare genetic disorders and unexplained developmental delays.

Area of Science:

  • Genomics
  • Molecular Biology
  • Clinical Genetics
Keywords:
ARID1Binversionlong‐read sequencingneurodevelopmentaltranslocation

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Background:

  • Short-read sequencing often fails to detect complex structural variants like translocations and inversions.
  • Previous genetic testing, including karyotyping and chromosomal microarray, did not identify the cause of the patient's neurological and developmental disorders.
  • The patient presented with severe symptoms including febrile seizures, intractable epilepsy, epileptic encephalopathy, and speech delay.