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Type: Book chapter
Title: UPF3B gene and nonsense-mediated mRNA decay in autism spectrum disorders
Author: Laumonnier, F.
Nguyen, L.
Jolly, L.
Raynaud, M.
Gecz, J.
Citation: Comprehensive Guide to Autism, 2014 / Patel, V., Preedy, P., Martin, C. (ed./s), pp.1663-1678
Publisher: Springer
Publisher Place: New York
Issue Date: 2014
ISBN: 9781461447870
Editor: Patel, V.
Preedy, P.
Martin, C.
Statement of
Frederic Laumonnier, Lam Son Nguyen, Lachlan Jolly, Martine Raynaud, and Jozef Gecz
Abstract: Recent genetic and genomic inquiries revealed that autism spectrum disorders (ASD) have a strong genetic component, involving multiple different genes, which encode proteins participating in various interconnected signaling and regulatory processes. Mutations in the X-linked UPF3B gene have been discovered to cause ASD making it a highly relevant gene. UPF3B is a core component of the nonsense-mediated mRNA decay (NMD) pathway that functions to degrade transcripts containing premature termination codons (PTCs). These PTC-harboring transcripts can arise because of mutation, but also naturally, such that NMD regulates the normal expression of the transcriptome. In humans, compromised NMD as a consequence of loss of UPF3B function led to deregulation of 5 % of the transcriptome, with many deregulated genes displaying important neural functions. Moreover, whole-organism and cell-based studies demarcate a role for NMD in embryogenesis, in particular brain development, including the regulation of the brain size, patterning, and neuronal cell maturation. The UPF3B gene and the NMD pathway itself are crucial for normal brain development and function, suggesting any perturbations to NMD, be they genetic or through therapeutic intervention, are predicted to result in a spectrum of neurocognitive phenotypes.
Rights: © Springer Science+Business Media New York 2014
DOI: 10.1007/978-1-4614-4788-7_101
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Paediatrics publications

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