Dystonia-causing mutations in the transcription factor THAP1 disrupt HCFC1 cofactor recruitment and alter gene expression.

Abstract excerpt

Thanatos-associated protein domain containing, apoptosis-associated protein 1 (THAP1), the gene mutated in DYT6 dystonia, encodes a transcription factor. While the N-terminal THAP domain allows for specific DNA-binding, the functional relevance of the other regions is largely unknown. The C-terminus contains a 4-amino-acid-spanning host cell factor 1 (HCFC1)-binding domain (HBM) that mediates the interaction with...

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