Mechanisms of mRNA processing defects in inherited THOC6 intellectual disability syndrome

• Published in: bioRxiv
• Main Authors: Werren, Elizabeth A, Laforce, Geneva R, Srivastava, Anshika, Perillo, Delia R, Johnson, Katherine, Berger, Brandon, Safa Baris, Regan, Samantha L, Pfennig, Christian D, De Munnik, Sonja, Rolph Pfundt, Hebbar, Malavika, Jimenez-Heredia, Raul, Karakoc-Aydiner, Elif, Ozen, Ahmet, Dmytrus, Jasmin, Krolo, Ana, Corning, Ken, Prijoles, Ej, Louie, Raymond, Lebel, Robert, Le, Thuy-Linh, Gordon, Chris, Girish, Katta M, Boztug, Kaan, Shukla, Anju, Bielas, Stephanie L, Schaffer, Ashleigh E
• Format: Paper
• Language: English
• Published: Cold Spring Harbor Cold Spring Harbor Laboratory Press 07.09.2022
• Subjects: Intellectual disabilities; Localization; Monomers; mRNA processing; Nuclear transport

THOC6 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 d...