Ontology highlight
ABSTRACT:
SUBMITTER: Werren E
PROVIDER: S-EPMC10503840 | biostudies-literature | 2023 Sep
REPOSITORIES: biostudies-literature
Werren Elizabeth E LaForce Geneva G Srivastava Anshika A Perillo Delia D Johnson Katherine K Berger Brandon B Regan Samantha S Pfennig Christian C Baris Safa S de Munnik Sonja S Pfundt Rolph R Hebbar Malavika M Jimenez Heredia Raul R Karakoc-Aydiner Elif E Ozen Ahmet A Dmytrus Jasmin J Krolo Ana A Corning Ken K Prijoles Eloise E Louie Raymond R Lebel Robert R Le Thuy-Linh TL Amiel Jeanne J Gordon Christopher C Boztug Kaan K Girisha Katta K Shukla Anju A Bielas Stephanie S Schaffer Ashleigh A
Research square 20230906
<i>THOC6</i> is the genetic basis of autosomal recessive THOC6 Intellectual Disability Syndrome (TIDS). THOC6 facilitates the formation of the Transcription Export complex (TREX) tetramer, composed of four THO monomers. The TREX tetramer supports mammalian mRNA processing that is distinct from yeast TREX dimer functions. Human and mouse TIDS model systems allow novel THOC6-dependent TREX tetramer functions to be investigated. Biallelic loss-of-functon(LOF) <i>THOC6</i> variants do not influence ...[more]