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