title: Function and pathological implications of exon junction complex factor Y14.
abstract: Eukaryotic mRNA biogenesis involves a series of interconnected steps, including nuclear pre-mRNA processing, mRNA export, and surveillance. The exon-junction complex (EJC) is deposited on newly spliced mRNAs and coordinates several downstream steps of mRNA biogenesis. The EJC core protein, Y14, functions with its partners in nonsense-mediated mRNA decay and translational enhancement. Y14 plays additional roles in mRNA metabolism, some of which are independent of the EJC, and it is also involved in other cellular processes. Genetic mutations or aberrant expression of Y14 results in physiological abnormality and may cause disease. Therefore, it is important to understand the various functions of Y14 and its physiological and pathological roles.
authors: Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan. tzuwei@ibms.sinica.edu.tw.
authors: Tzu-Wei
authors: TW
authors: Chuang
authors: Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan. g39002007@ym.edu.tw.
authors: Kou-Ming
authors: KM
authors: Lee
authors: Institute of Biomedical Sciences, Academia Sinica, Taipei 115, Taiwan. wtarn@ibms.sinica.edu.tw.
authors: Woan-Yuh
authors: WY
authors: Tarn
mesh_terms: D000818:Animals; D000080984:Congenital Bone Marrow Failure Syndromes; D006801:Humans; D009154:Mutation; D012326:RNA Splicing; D016601:RNA-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D011884:Radius; D013921:Thrombocytopenia / Q000235:genetics*; D038062:Upper Extremity Deformities, Congenital / Q000235:genetics*
chemical_list: C406243:RBM8A protein, human; D016601:RNA-Binding Proteins