AI Article Synopsis
- Alternative splicing helps make many different types of proteins, but we don't know which ones are really important for living things.
- Scientists found a special group of tiny bits of genes called "microexons" that are really important for brain development.
- In people with autism, these microexons don't work right because a key helper protein is not present enough, which could cause problems in how brain proteins interact.
Article Abstract
Alternative splicing (AS) generates vast transcriptomic and proteomic complexity. However, which of the myriad of detected AS events provide important biological functions is not well understood. Here, we define the largest program of functionally coordinated, neural-regulated AS described to date in mammals. Relative to all other types of AS within this program, 3-15 nucleotide "microexons" display the most striking evolutionary conservation and switch-like regulation. These microexons modulate the function of interaction domains of proteins involved in neurogenesis. Most neural microexons are regulated by the neuronal-specific splicing factor nSR100/SRRM4, through its binding to adjacent intronic enhancer motifs. Neural microexons are frequently misregulated in the brains of individuals with autism spectrum disorder, and this misregulation is associated with reduced levels of nSR100. The results thus reveal a highly conserved program of dynamic microexon regulation associated with the remodeling of protein-interaction networks during neurogenesis, the misregulation of which is linked to autism.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4390143 | PMC |
| http://dx.doi.org/10.1016/j.cell.2014.11.035 | DOI Listing |
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