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The TATA-box binding protein associated factor 1 (TAF1) protein is a key unit of the transcription factor II D complex that serves a vital function during transcription initiation. Variants of  TAF1  have been associated with neurodevelopmental disorders, but  TAF1 ’s molecular functions remain elusive. In this study, we present a five-generation family affected with X-linked intellectual disability that co-segregated with a  TAF1  c.3568C>T, p.(Arg1190Cys) variant. All affected males presented with intellectual disability and dysmorphic features, while heterozygous females were asymptomatic and had completely skewed X-chromosome inactivation. We investigated the role of  TAF1  and its association to neurodevelopment by creating the first complete knockout model of the  TAF1  orthologue in zebrafish. A crucial function of human  TAF1  during embryogenesis can be inferred from the model, demonstrating that intact  taf1  is essential for embryonic development. Transcriptome analysis of  taf1  zebrafish knockout revealed enrichment for genes associated with neurodevelopmental processes. In conclusion, we propose that functional  TAF1  is essential for embryonic development and specifically neurodevelopmental processes.

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish