Functional analysis of N-TAF1, the disease causative gene of X-linked recessive dystonia-parkinsonism

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We previously found a neuron-specific isoform of the TAF1, which is the disease causative gene of X-linked recessive dystonia-parkinsonism. To investigate the function of the neuron-specific isoform of the TAF1 gene, we carried out expression analysis in mouse brain and over-expression of N-TAF1 in cultured cell lines. We demonstrated that N-TAF1 varies from TAF1 gene in expression pattern, probably reflecting the difference in physiological roles between N-TAF1 and TAF1.