Cited by 471Iron Metabolism and DisordersNeurological diseases and metabolismGenetic factors in colorectal cancer

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The Hemochromatosis Founder Mutation in HLA-H Disrupts β2-Microglobulin Interaction and Cell Surface Expression

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Feder, John N., Tsuchihashi, Zenta, Irrinki, Alivelu, Lee, Vincent K., Mapa, Felipa A., Morikang, Ebenezer, Prass, Cynthia E., Starnes, Steven M., Wolff, Roger K., Parkkila, Seppo, Sly, William S., Schatzman, Randall C.·1997·Journal of Biological Chemistry

DOI 10.1074/jbc.272.22.14025

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Abstract

We recently reported the positional cloning of a candidate gene for hereditary hemochromatosis (HH), called HLA-H, which is a novel member of the major histocompatibility complex class I family. A mutation in this gene, cysteine 282 --> tyrosine (C282Y), was found to be present in 83% of HH patient DNAs, while a second variant, histidine 63 --> aspartate (H63D), was enriched in patients heterozygous for C282Y. The functional relevance of either mutation has not been described. Co-immunoprecipitation studies of cell lysates from human embryonic kidney cells transfected with wild-type or mutant HLA-H cDNA demonstrate that wild-type HLA-H binds beta2-microglobulin and that the C282Y mutation, but not the H63D mutation, completely abrogates this interaction. Immunofluorescence labeling and subcellular fractionations demonstrate that while the wild-type and H63D HLA-H proteins are expressed on the cell surface, the C282Y mutant protein is localized exclusively intracellularly. This report describes the first functional significance of the C282Y mutation by suggesting that an abnormality in protein trafficking and/or cell-surface expression of HLA-H leads to HH disease.

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Authors: Feder, J. N., Tsuchihashi, Z., Irrinki, A., Lee, V. K., Mapa, F. A., Morikang, E., Prass, C. E., Starnes, S. M., Wolff, R. K., Parkkila, S., Sly, W. S., & Schatzman, R. C.
Affiliations: Saint Louis University (US)
Corresponding author: Schatzman, Randall C.
ORCID: Feder, John N.
Tsuchihashi, Zenta
Irrinki, Alivelu
Mapa, Felipa A.
Wolff, Roger K.
Parkkila, Seppo
Venue: Journal of Biological Chemistry
Publisher: Elsevier BV
Published: 1997-05
Volume: 272
Issue: 22
Pages: 14025-14028
ISSN: 0021-9258 (ISSN-L)
DOI: 10.1074/jbc.272.22.14025
OpenAlex: W2143716524
Cited by: 471
References: 21
Citations by year: 2026: 1 · 2025: 3 · 2024: 1 · 2023: 2 · 2022: 2 · 2021: 6 · 2020: 5 · 2019: 1 · 2018: 6 · 2017: 10 · 2016: 14 · 2015: 5 · 2014: 9 · 2013: 12 · 2012: 15
FWCI: 22.93
Type: journal article
Language: en
Open access: hybrid
doi.org
Licence: cc-by
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
creativecommons.org/licenses/by/4.0/ (vor, 8556 d)
Locations: Journal of Biological Chemistry (publishedVersion, cc-by)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
Keywords: hereditary hemochromatosis, HLA-H, HFE gene, C282Y mutation, H63D mutation, beta2-microglobulin, protein-protein interaction, cell surface expression, intracellular retention, protein trafficking, MHC class I, positional cloning
MeSH terms: Hemochromatosis Protein, Base Sequence, beta 2-Microglobulin, Cell Membrane, Gene Expression Regulation, Hemochromatosis, HLA Antigens, Humans, Membrane Proteins, Molecular Sequence Data, Mutation, Histocompatibility Antigens Class I

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The Hemochromatosis Founder Mutation in HLA-H Disrupts β2-Microglobulin Interaction and Cell Surface Expression

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