Journal article
Silencing of the Drosophila ortholog of SOX5 leads to abnormal neuronal development and behavioral impairment
A Li, B Hooli, K Mullin, RE Tate, A Bubnys, R Kirchner, B Chapman, O Hofmann, W Hide, RE Tanzi
Human Molecular Genetics | OXFORD UNIV PRESS | Published : 2017
DOI: 10.1093/hmg/ddx051
Abstract
SOX5 encodes a transcription factor that is expressed in multiple tissues including heart, lung and brain. Mutations in SOX5 have been previously found in patients with amyotrophic lateral sclerosis (ALS) and developmental delay, intellectual disability and dysmorphic features. To characterize the neuronal role of SOX5, we silenced the Drosophila ortholog of SOX5, Sox102F, by RNAi in various neuronal subtypes in Drosophila. Silencing of Sox102F led to misorientated and disorganized michrochaetes, neurons with shorter dendritic arborization (DA) and reduced complexity, diminished larval peristaltic contractions, loss of neuromuscular junction bouton structures, impaired olfactory perception, ..
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Awarded by National Institute of Mental Health
Funding Acknowledgements
This work was supported by the Cure Alzheimer's Fund [to R.E.T], the National Institute of Health [R01AG014713 and R01MH60009 to R.E.T; R03AR063271 and R15EB019704 to A.L.], the National Science Foundation [NSF1455613 to A.L.] and a Massachusetts General Hospital ECOR Award [to A.L.].