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TAF1, associated wi...
TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish
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- Gudmundsson, Sanna, 1989- (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab,Uppsala University,Bondeson
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- Wilbe, Maria (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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- Gorniok, Beata Filipek (author)
- Uppsala universitet,Institutionen för organismbiologi,Science for Life Laboratory, SciLifeLab
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- Molin, Anna-Maja, 1976- (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Science for Life Laboratory, SciLifeLab
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- Ekvall, Sara, 1982- (author)
- Uppsala universitet,Institutionen för immunologi, genetik och patologi,Science for Life Laboratory, SciLifeLab
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- Johansson, Josefin (author)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Allalou, Amin, 1981- (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Bildanalys och människa-datorinteraktion,Avdelningen för visuell information och interaktion
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- Gylje, Hans (author)
- Department of Paediatrics, Central Hospital, Västerås, 721 89, Sweden.
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- Kalscheuer, Vera M. (author)
- Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, 141 95, Germany.
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- Ledin, Johan (author)
- Uppsala universitet,Institutionen för organismbiologi,Science for Life Laboratory, SciLifeLab
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- Annerén, Göran, 1945- (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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- Bondeson, Marie-Louise, 1960- (author)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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(creator_code:org_t)
- 2019-07-24
- 2019
- English.
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In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 9
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Abstract
Subject headings
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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.
Subject headings
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
Keyword
- taf1
- intellectual disability
- zebrafish
- Medical Genetics
- Medicinsk genetik
Publication and Content Type
- ref (subject category)
- art (subject category)
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Gudmundsson, San ...
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Wilbe, Maria
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Gorniok, Beata F ...
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Molin, Anna-Maja ...
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Ekvall, Sara, 19 ...
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Johansson, Josef ...
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Allalou, Amin, 1 ...
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Gylje, Hans
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Kalscheuer, Vera ...
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Ledin, Johan
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Annerén, Göran, ...
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Bondeson, Marie- ...
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- About the subject
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Genetics
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Scientific Repor ...
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Uppsala University