Lumenal localization in the endoplasmic reticulum of the C-terminal tail of an AE１mutant responsible for hereditary spherocytosis in cattle
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An R６６４X nonsense mutant AE１is responsible for dominant hereditaryspherocytosis in cattle and is degraded by the proteasomal endoplasmicreticulum-associated degradation . The present study demonstrated thatR６６４XAE１translated in vitro had the trypsin-sensitve site identical to that ofthe wild-type AE１．The P６６１S /R６６４X mutant containing a possible Nglycosylationsite at Asn６６０showed an increase in size by３kDa both in the cellfreetranslation system and in transfected HEK２９３ cells. Moreover, steadystate levels of R６６４X and P６６１S/R６６４X in HEK２９３ cells were markedly increasedin the presence of a proteasome inhibitior. These findings indicatethat the truncated C-terminal region of R６６４X AE１has lumenal localizationin the endoplasmic reticulum and is not accessible to proteasomal machineriesin the cytosol.
- The Graduate School of Veterinary Medicine, Hokkaido Universityの論文
- 2007-02-28
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