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Nature·· 7 hours agoPickScore77

A microexon regulatory code reveals autism-linked genetic variation.

A microexon regulatory code reveals autism-linked genetic variation.

In brief

An expanded map of neuronal microexons, built from extensive transcriptome profiling, adds hundreds of new microexons, including subtype-specific ones and others that trigger nonsense-mediated mRNA decay. A machine-learning sequence code predicts neuronally spliced microexons and identifies regulatory elements around them. Applied to autism, the code pinpoints rare splicing-altering variants, mostly in idiopathic individuals, that associate with autism status and converge on synaptic and other autism-linked genes.

Why it matters

It links autism-associated genetic variation to a splicing code for neuronal microexons.

Source: Nature · doi.org

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