Article
Homozygous TAF8 mutation in a patient with intellectual disability results in undetectable TAF8 protein, but preserved RNA polymerase II transcription.
Human molecular genetics - 15 Jun 2018
El-Saafin Farrah, Curry Cynthia, Ye Tao, Garnier Jean-Marie, Kolb-Cheynel Isabelle, Stierle Matthieu, Downer Natalie L, Dixon Mathew P, Negroni Luc, Berger Imre, Thomas Tim, Voss Anne K, Dobyns William, Devys Didier, Tora Laszlo
Abstract excerpt
The human general transcription factor TFIID is composed of the TATA-binding protein (TBP) and 13 TBP-associated factors (TAFs). In eukaryotic cells, TFIID is thought to nucleate RNA polymerase II (Pol II) preinitiation complex formation on all protein coding gene promoters and thus, be crucial for Pol II transcription. In a child with intellectual disability, mild microcephaly, corpus callosum agenesis and poor...
Topics
- Animals
- Blastocyst
- Cell Death
- Disease Models, Animal
- Drosophila
- Homozygote
- Humans
- Intellectual Disability
- Mice
- Microcephaly