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Article

Approaches for identification of 5' UTR mutations impacting translation and protein production from neurodevelopmental disorder genes.

Cell reports methods - 15 Dec 2025

Plassmeyer Stephen P, Florian Colin P, Chase Rebecca, Kasper Michael J, Mueller Shayna, Liu Yating, McFarland White Kelli, Sierra-Cortez Llaelyn, Fischer Anthony D, Jungers Courtney F, Djuranovic Slavica Pavlovic, Djuranovic Sergej, Dougherty Joseph D

Abstract excerpt

Coding mutations can cause neurodevelopmental disorders (NDDs), including autism. Yet, predicting which non-coding (e.g., 5' untranslated region [UTR]) mutations are functional is challenging. We tested assays of various throughput for the assessment of 997 mutations from NDD families. A massively parallel reporter assay (MPRA) using polysomes from cell lines identified >100 altering translation, with a subset...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41344325
DOI: 10.1016/j.crmeth.2025.101247
PMCID: PMC12859497

Genes

ZNF644

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