Microexons misregulated in 1/3 cases of autism may be governed by 200 genes

Broad cluster of positive and negative regulatory genes was found influence microexons – genome element with a possible role in autism disorders.

SRRM4-dependent microexons are short sequences (from 3 to 27 nucleotides) which play an important role in brain cells. Their mechanism was recently discovered, and they are still investigated in pioneering approaches. However, right now we know that regulation of microexons is disrupted in 1/3 autistic brains.

Advanced molecular technology – CRISPR-Cas9 – helped to determine and explore complex network of genes governing microexons’ regulation. Discovered genes belong to groups managing RNA metabolism, RNA splicing/processing, DNA and chromatin binding, chromatin organization, histone modifications.

Authors of the study observed that some of the regulatory genes were previously linked to autism spectrum disorder. Disruption of them and subsequently neuronal microexons may be part of mechanism contributing to the disorder.

More: “Genome-wide CRISPR-Cas9 Interrogation of Splicing Networks Reveals a Mechanism for Recognition of Autism-Misregulated Neuronal Microexons”, T. Gonatopoulos-Pournatzis et al., 2018, doi:10.1016/j.molcel.2018.10.008.