Xenopus oocytes can synthesise but do not secrete the Z variant of human alpha 1-antitrypsin.
Human liver mRNA was prepared from a patient homozygous for alpha 1-antitrypsin deficiency (PiZZ) and from a normal subject (PiMM). Both liver RNAs were microinjected into Xenopus oocytes and alpha 1-antitrypsin identified by immunoprecipitation. The normal M variant of alpha 1-antitrypsin is synthesised and secreted by Xenopus oocytes, the abnormal Z protein is not secreted and an intracellular form accumulates in the oocytes. In the presence of tunicamycin an unglycosylated form of M alpha 1-antitrypsin appears in the incubation medium but no corresponding unglycosylated version of the Z protein is secreted.
D000818:Animals; D005260:Female; D014644:Genetic Variation; D006801:Humans; D008099:Liver / Q000378:metabolism; D009865:Oocytes / Q000187:drug effects / Q000378:metabolism*; D011061:Poly A / Q000235:genetics; D014176:Protein Biosynthesis; D012313:RNA / Q000235:genetics; D012333:RNA, Messenger / Q000235:genetics; D014415:Tunicamycin / Q000494:pharmacology; D000515:alpha 1-Antitrypsin / Q000235:genetics* / Q000378:metabolism; D019896:alpha 1-Antitrypsin Deficiency
D012333:RNA, Messenger; D000515:alpha 1-Antitrypsin; D014415:Tunicamycin; D011061:Poly A; D012313:RNA