Decreased N-TAF1 expression in X-linked dystonia-parkinsonism patient-specific neural stem cells

Disease Models & Mechanisms
Naoto ItoD Cristopher Bragg

Abstract

X-linked dystonia-parkinsonism (XDP) is a hereditary neurodegenerative disorder involving a progressive loss of striatal medium spiny neurons. The mechanisms underlying neurodegeneration are not known, in part because there have been few cellular models available for studying the disease. The XDP haplotype consists of multiple sequence variations in a region of the X chromosome containingTAF1, a large gene with at least 38 exons, and a multiple transcript system (MTS) composed of five unconventional exons. A previous study identified an XDP-specific insertion of a SINE-VNTR-Alu (SVA)-type retrotransposon in intron 32 ofTAF1, as well as a neural-specific TAF1 isoform, N-TAF1, which showed decreased expression in post-mortem XDP brain compared with control tissue. Here, we generated XDP patient and control fibroblasts and induced pluripotent stem cells (iPSCs) in order to further probe cellular defects associated with this disease. As initial validation of the model, we compared expression ofTAF1and MTS transcripts in XDP versus control fibroblasts and iPSC-derived neural stem cells (NSCs). Compared with control cells, XDP fibroblasts exhibited decreased expression ofTAF1transcript fragments derived from exons 32-36, a region spa...Continue Reading

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Citations

Dec 13, 2017·Proceedings of the National Academy of Sciences of the United States of America·D Cristopher BraggLaurie J Ozelius
Aug 29, 2018·Movement Disorders : Official Journal of the Movement Disorder Society·Aleksandar RakovicChristine Klein
Apr 12, 2019·Annals of Neurology·Ana WestenbergerChristine Klein
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Jan 14, 2021·Journal of Neural Transmission·Cara Fernandez-CeradoGeraldine Acuña-Sunshine
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Oct 26, 2020·Journal of Neural Transmission·Anne WeissbachAloysius Domingo
Dec 20, 2017·Molecular and Cellular Neurosciences·Robert S PorterShigeki Iwase

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Methods Mentioned

BETA
genotyping
PCR
electrophoresis
Assay
confocal microscopy
biopsies
scraping
Profiler

Software Mentioned

R
PSC Scorecard
hPSC Scorecard analysis
BLAST
Scorecard
[UNK] Profiler
[UNK] Profiler PCR Array Data Analysis
Primer

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