- 15 February 2018
1:00 pm - 2:00 pm
Thursday 15 february 2018, 1.00 pm
Auditorium, Level 3, CENTRAL building
Understanding how human TAF mutations cause intellectual disability: Is the general transcription factor required for transcription?
Dr László Tora,
Research Director, Centre National de Recherche Scientifique; and Group Leader, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg, Illkirch, France
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 several eukaryotic organisms TBP and TAFs have been shown to be essential transcription factors. In a child with intellectual disability, mild microcephaly, corpus callosum agenesis and poor growth we identified a homozygous splice-site mutation in TAF8 (NM_138572.2:c.781-1G>A). The presentation will review data suggesting that partial TAF complexes, and/or altered TFIID complexes, could support mammalian development and thus, the absence of holo-TFIID in certain cell types is less deleterious for transcription than originally predicted.
Dr László Tora is a research director (DRCE) at Centre National de Recherche Scientifique and group leader at Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg, Illkirch, France. He was born and brought up in Budapest, Hungary, and he completed his postgraduate training at the Eötvös Lorand University (Budapest, Hungary). He has been living and working in France since 1985. First, he has carried out his postdoctoral training with Professor Pierre Chambon at LGME, Strasbourg, and then since 1994 he is leading his group, entitled “Dynamics of chromatin structure and transcription regulation” at IGBMC, Illkirch, France. To date Dr László Tora has published about 160 original research papers, as well as numerous reviews, book chapters and was invited to more than 80 scientific meetings. His h-index is 62 and his work has been cited more than 13 250 times (without self-citations).