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Alternative RNA Splicing02:18

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Engineering Artificial Factors to Specifically Manipulate Alternative Splicing in Human Cells
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Aberrant recursive splicing in a human disease locus.

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    Summary
    This summary is machine-generated.

    Recursive splicing (RS) is a regulatory mechanism in the CADM2 gene. Ablating a key RS site (RS1) impacts gene expression and neuronal development, linking it to neurobehavioral traits and ADHD risk.

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    Area of Science:

    • Genetics
    • Neuroscience
    • Molecular Biology

    Background:

    • Recursive splicing (RS) sites are rare motifs that may facilitate splicing in large introns and influence isoform diversity, particularly in brain-expressed genes.
    • The role of RS in human disease and its necessity as a regulatory mechanism remain largely uncharacterized.
    • Previous analyses identified deletions in the CADM2 gene's first intron, containing a recursive splicing site (RS1), associated with increased risk for attention deficit hyperactivity disorder (ADHD) and other neurobehavioral traits.

    Purpose of the Study:

    • To investigate the molecular consequences of ablating the RS1 site in the CADM2 gene.
    • To explore the functional role of RS in regulating CADM2 expression and its impact on neuronal development and behavior.

    Main Methods:

    • Utilized CRISPR gene editing in human induced neurons (iNs) and rats to model patient-derived deletions of the RS1 site in CADM2.
    • Performed transcriptome analyses to catalog CADM2 transcripts and assess changes in gene expression and splicing patterns.
    • Evaluated behavioral and functional brain connectivity changes in rodent models with Cadm2 RS1 deletions.

    Main Results:

    • Ablation of the RS1 site in CADM2 altered RNA abundance gradients, decreased overall CADM2 expression, and affected transcript usage.
    • Reduced CADM2 expression correlated with decreased downstream exon usage and global alterations in genes involved in synapse and axon development.
    • Rodent models with Cadm2 RS1 deletions displayed significant behavioral changes and altered functional brain connectivity.

    Conclusions:

    • Recursive splicing (RS) functions as a noncoding regulatory mechanism influencing CADM2 expression.
    • Disruption of RS in CADM2 impacts neuronal development and is associated with a spectrum of neuropsychiatric and behavioral traits, including ADHD.
    • These findings highlight the functional significance of RS in gene regulation and its potential role in human neurodevelopmental disorders.