Protein O-Glucosyltransferase 1 (POGLUT1) Promotes Mouse Gastrulation through Modification of the Apical Polarity Protein CRUMBS2

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Post-translational addition of sugar chains is essential for normal activity of many secreted and transmembrane proteins and dozens of human genetic diseases are associated with congenital disorders of glycosylation. Protein O-glucosyltransferase 1 (POGLUT1), which is essential for early mouse development, catalyzes the addition of O-glucose to extracellular EGF repeats of proteins, including NOTCH1. Here we show that mouse POGLUT1 modifies NOTCH1 in vivo; however, the essential role of POGLUT1 in gastrulation is due to POGLUT1-dependent glycosylation of EGF repeats in the apical polarity protein CRUMBS2. In contrast to findings in Drosophila, where modification of Crumbs by POGLUT1 is not required, mouse POGLUT1 is required for the activity of CRUMBS2: the unmodified protein fails to localize to the apical membrane and the gastrulation defects of Poglut1 mutants are indistinguishable from those of Crumbs2 mutants. Human mutations in POGLUT1 cause Dowling-Degos Disease type 4; the hyperpigmentation associated with this autosomal dominant disease was previously attributed to altered Notch signaling, but our results suggest that this disease and other POGLUT1-associated phenotypes may be due to altered activity of CRUMBS proteins.

Vyšlo v časopise: Protein O-Glucosyltransferase 1 (POGLUT1) Promotes Mouse Gastrulation through Modification of the Apical Polarity Protein CRUMBS2. PLoS Genet 11(10): e32767. doi:10.1371/journal.pgen.1005551
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005551

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