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Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism

Domingo, Aloysius ; Amar, David ; Grütz, Karen ; Lee, Lillian V. ; Rosales, Raymond ; Brüggemann, Norbert ; Jamora, Roland Dominic ; Cutiongco-dela Paz, Eva ; Rolfs, Arndt ; Dressler, Dirk ; Walter, Uwe ; Krainc, Dimitri ; Lohmann, Katja ; Shamir, Ron ; Klein, Christine ; Westenberger, Ana

Cellular and molecular life sciences : CMLS, 2016-08, Vol.73 (16), p.3205-3215 [Periódico revisado por pares]

Cham: Springer International Publishing

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Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism
Autor: Domingo, Aloysius ; Amar, David ; Grütz, Karen ; Lee, Lillian V. ; Rosales, Raymond ; Brüggemann, Norbert ; Jamora, Roland Dominic ; Cutiongco-dela Paz, Eva ; Rolfs, Arndt ; Dressler, Dirk ; Walter, Uwe ; Krainc, Dimitri ; Lohmann, Katja ; Shamir, Ron ; Klein, Christine ; Westenberger, Ana
Assuntos: Analysis ; Biochemistry ; Biomedical and Life Sciences ; Biomedicine ; Cell Biology ; Dystonic Disorders - genetics ; Gene Regulatory Networks ; Genetic Diseases, X-Linked - genetics ; Genetics ; Histone Acetyltransferases - genetics ; Humans ; Life Sciences ; Male ; Molecular biology ; Neurodegeneration ; Original ; Original Article ; TATA-Binding Protein Associated Factors - genetics ; Transcription Factor TFIID - genetics ; Transcriptional Activation ; Transcriptome
É parte de: Cellular and molecular life sciences : CMLS, 2016-08, Vol.73 (16), p.3205-3215
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
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Descrição: The molecular dysfunction in X-linked dystonia-parkinsonism is not completely understood. Thus far, only noncoding alterations have been found in genetic analyses, located in or nearby the TATA-box binding protein-associated factor 1 ( TAF1 ) gene. Given that this gene is ubiquitously expressed and is a critical component of the cellular transcription machinery, we sought to study differential gene expression in peripheral models by performing microarray-based expression profiling in blood and fibroblasts, and comparing gene expression in affected individuals vs. ethnically matched controls. Validation was performed via quantitative polymerase chain reaction in discovery and independent replication sets. We observed consistent downregulation of common TAF1 transcripts in samples from affected individuals in gene-level and high-throughput experiments. This signal was accompanied by a downstream effect in the microarray, reflected by the dysregulation of 307 genes in the disease group. Gene Ontology and network analyses revealed enrichment of genes involved in RNA polymerase II-dependent transcription, a pathway relevant to TAF1 function. Thus, the results converge on TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism, and provide evidence of altered expression of a canonical gene in this disease. Furthermore, our study illustrates a link between the previously described genetic alterations and TAF1 dysfunction at the transcriptome level.
Editor: Cham: Springer International Publishing
Idioma: Inglês

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Evidence of TAF1 dysfunction in peripheral models of X-linked dystonia-parkinsonism

Domingo, Aloysius ; Amar, David ; Grütz, Karen ; Lee, Lillian V. ; Rosales, Raymond ; Brüggemann, Norbert ; Jamora, Roland Dominic ; Cutiongco-dela Paz, Eva ; Rolfs, Arndt ; Dressler, Dirk ; Walter, Uwe ; Krainc, Dimitri ; Lohmann, Katja ; Shamir, Ron ; Klein, Christine ; Westenberger, Ana

Cham: Springer International Publishing

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