
Royal Society Open Science, Journal Year: 2024, Volume and Issue: 11(9)
Published: Sept. 1, 2024
The transcriptional machinery is essential for gene expression and regulation; dysregulation of transcription can result in a range pathologies, including neurodegeneration, cancer, developmental disorders cardiovascular disease. A key component RNA polymerase II-mediated the basal factor IID, which formed TATA box-binding protein (TBP) 14 TBP-associated factors (TAFs), largest TAF1 protein, encoded on X chromosome (Xq13.1). dysregulated X-linked dystonia–parkinsonism congenital mutations are causative neurodevelopmental phenotypes; dysfunction also associated with cardiac anomalies cancer. However, how contributes to pathology unclear. Here, we highlight aspects function that may link regulation development, growth adult-onset motor impairment. We need experimentally investigate full messenger variants isoforms human mouse aid our understanding biology. Furthermore, nature -related diseases adds complexity phenotypes. Overall, shed light biology contribute disease areas could be addressed future research targeted therapeutics.
Language: Английский