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• W2768049553 abstract "SEC23 is a core component of the coat protein-complex II (COPII)-coated vesicle, which mediates transport of secretory proteins from the endoplasmic reticulum (ER) to the Golgi 1-3 . Mammals express 2 paralogs for SEC23 (SEC23A and SEC23B). Though the SEC23 gene duplication dates back >500 million years, both SEC23’s are ~85% identical at the amino acid sequence level. In humans, deficiency for SEC23A or SEC23B results in cranio-lenticulo-sutural dysplasia 4 or congenital dyserythropoietic anemia type II (CDAII), respectively 5 . The disparate human syndromes and reports of secretory cargos with apparent paralog-specific dependence 6,7 , suggest unique functions for the two SEC23 paralogs. Here we show indistinguishable intracellular interactomes for human SEC23A and SEC23B, complementation of yeast SEC23 by both human and murine SEC23A/B paralogs, and the rescue of lethality resulting from Sec23b disruption in zebrafish by a Sec23a -expressing transgene. Finally, we demonstrate that the Sec23a coding sequence inserted into the endogenous murine Sec23b locus fully rescues the mortality and severe pancreatic phenotype previously reported with SEC23B-deficiency in the mouse 8-10 . Taken together, these data indicate that the disparate phenotypes of SEC23A and SEC23B deficiency likely result from evolutionary shifts in gene expression program rather than differences in protein function, a paradigm likely applicable to other sets of paralogous genes. These findings also suggest the potential for increased expression of SEC23A as a novel therapeutic approach to the treatment of CDAII, with potential relevance to other disorders due to mutations in paralogous genes." @default.
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• W2768049553 date "2017-11-07" @default.
• W2768049553 modified "2023-10-17" @default.
• W2768049553 title "The Function of the COPII Gene Paralogs SEC23A and SEC23B Are Interchangeable<i>In Vivo</i>" @default.
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• W2768049553 doi "https://doi.org/10.1101/215160" @default.
• W2768049553 hasPublicationYear "2017" @default.
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