Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment

Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment

Abstract 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 essentia...

Full description

Bibliographic Details
Main Authors: Rudrarup Bhattacharjee, Lachlan A. Jolly, Mark A. Corbett, Ing Chee Wee, Sushma R. Rao, Alison E. Gardner, Tarin Ritchie, Eline J. H. van Hugte, Ummi Ciptasari, Sandra Piltz, Jacqueline E. Noll, Nazzmer Nazri, Clare L. van Eyk, Melissa White, Dani Fornarino, Cathryn Poulton, Gareth Baynam, Lyndsey E. Collins-Praino, Marten F. Snel, Nael Nadif Kasri, Kim M. Hemsley, Paul Q. Thomas, Raman Kumar, Jozef Gecz
Format: Article
Language:English
Published: Nature Portfolio 2024-02-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-024-45121-5

Internet

https://doi.org/10.1038/s41467-024-45121-5

Similar Items