Abstract
HFE C282Y is an example of a mutant protein that does not fold correctly, is retained in the endoplasmic reticulum, and was found previously to diminish surface expression of MHC class I (MHC-I). We now show that its expression in 293T cells triggers an unfolded protein response (UPR), as revealed by the increased levels of H chain binding protein, GRP94, and C/EBP homologous protein. Elevated levels of these proteins were also found in HFE C282Y homozygous PBMCs. Following the UPR induction, a decrease in MHC-I cell surface expression was observed. This defect in MHC-I could be mimicked, however, by overexpression of transcriptionally active isoforms of activating transcription factor-6 and X box-binding protein-1, which induced the UPR, and reversed in HFE C282Y-expressing cells by using dominant-negative constructs that block UPR signaling. The present results provide evidence to the finding that stimulation of an UPR affects MHC-I expression.
Publication types
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Clinical Trial
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Research Support, Non-U.S. Gov't
MeSH terms
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CCAAT-Enhancer-Binding Proteins / immunology
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CCAAT-Enhancer-Binding Proteins / metabolism
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Cell Line
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DNA-Binding Proteins / immunology
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DNA-Binding Proteins / metabolism
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Endoplasmic Reticulum / immunology
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Endoplasmic Reticulum / metabolism*
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Gene Expression Regulation* / genetics
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Gene Expression Regulation* / immunology
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Hemochromatosis Protein
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Histocompatibility Antigens Class I / biosynthesis*
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Histocompatibility Antigens Class I / genetics
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Histocompatibility Antigens Class I / immunology
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Histocompatibility Antigens Class I / metabolism
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Humans
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Membrane Glycoproteins / immunology
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Membrane Glycoproteins / metabolism
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Membrane Proteins / genetics
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Membrane Proteins / immunology
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Membrane Proteins / metabolism*
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Mutation, Missense
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Protein Biosynthesis / genetics
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Protein Biosynthesis / immunology
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Protein Folding*
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Regulatory Factor X Transcription Factors
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Signal Transduction / genetics
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Signal Transduction / immunology*
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Transcription Factors / immunology
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Transcription Factors / metabolism
Substances
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CCAAT-Enhancer-Binding Proteins
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DNA-Binding Proteins
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HFE protein, human
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Hemochromatosis Protein
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Histocompatibility Antigens Class I
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Membrane Glycoproteins
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Membrane Proteins
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Regulatory Factor X Transcription Factors
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Transcription Factors
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endoplasmin