April 14, 2021

Splicing Control of Pontocerebellar Development

In this issue of Neuron, Chai et al. (2021) analyze several families with neurodegeneration and marked pontocerebellar hypoplasia and microcephaly and identify recessive (bi-allelic) mutations in peptidyl-prolyl isomerase-like 1 (PPIL1) and pre-RNA-processing-17 (PPR17). PPIL1 patient mutation knockin mice develop neuronal apoptosis. Loss of either protein affects splicing predominantly involving GC-rich and short introns.


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