Article
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment.
Nature communications - 8 Feb 2024
Bhattacharjee Rudrarup, Jolly Lachlan A, Corbett Mark A, Wee Ing Chee, Rao Sushma R, Gardner Alison E, Ritchie Tarin, van Hugte Eline J H, Ciptasari Ummi, Piltz Sandra, Noll Jacqueline E, Nazri Nazzmer, van Eyk Clare L, White Melissa, Fornarino Dani, Poulton Cathryn, Baynam Gareth, Collins-Praino Lyndsey E, Snel Marten F, Nadif Kasri Nael, Hemsley Kim M, Thomas Paul Q, Kumar Raman, Gecz Jozef
Abstract excerpt
We implicated the X-chromosome THOC2 gene, which encodes the largest subunit of the highly-conserved TREX (Transcription-Export) complex, in a clinically complex neurodevelopmental disorder with intellectual disability as the core phenotype. To study the molecular pathology of this essential eukaryotic gene, we generated a mouse model based on a hypomorphic Thoc2 exon 37-38 deletion variant of a patient with ID,...
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