Abstract 2911 Investigation of mutations in a unique deadenylase tied to a neurological disorder Pontocerebellar Hypoplasia

Target of Egr1 (TOE1) is a nuclear deadenylase critical for maturation of small non-coding RNAs. TOE1 is also the only deadenylase that is involved in Pol-II transcribed small nuclear RNA (snRNAs) processing in humans and depletion of TOE1 has been shown to result in an accumulation of nascent snRNA that are not properly matured. Many genetic mutations within the TOE1 gene have been linked to a subgroup of Pontocerebellar hypoplasia (PCH), a severe autosomal recessive neurodevelopmental and neurodegenerative disease that leads to an early death.