Cited by 974Iron Metabolism and DisordersNeurological diseases and metabolismGenetic factors in colorectal cancer

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Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis

Papanikolaou, George, Samuels, Mark E, Ludwig, Erwin H, MacDonald, Marcia L E, Franchini, Patrick L, Dubé, Marie-Pierre, Andres, Lisa, MacFarlane, Julie, Sakellaropoulos, Nikos, Politou, Marianna, Nemeth, Elizabeta, Thompson, Jay, Risler, Jenni K, Zaborowska, Catherine, Babakaiff, Ryan, Radomski, Christopher C, Pape, Terry D, Davidas, Owen, Christakis, John, Brissot, Pierre, Lockitch, Gillian, Ganz, Tomas, Hayden, Michael R, Goldberg, Y Paul·2004·Nature Genetics

DOI 10.1038/ng1274

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Abstract

Juvenile hemochromatosis is an early-onset autosomal recessive disorder of iron overload resulting in cardiomyopathy, diabetes and hypogonadism that presents in the teens and early 20s (refs. 1,2). Juvenile hemochromatosis has previously been linked to the centromeric region of chromosome 1q (refs. 3-6), a region that is incomplete in the human genome assembly. Here we report the positional cloning of the locus associated with juvenile hemochromatosis and the identification of a new gene crucial to iron metabolism. We finely mapped the recombinant interval in families of Greek descent and identified multiple deleterious mutations in a transcription unit of previously unknown function (LOC148738), now called HFE2, whose protein product we call hemojuvelin. Analysis of Greek, Canadian and French families indicated that one mutation, the amino acid substitution G320V, was observed in all three populations and accounted for two-thirds of the mutations found. HFE2 transcript expression was restricted to liver, heart and skeletal muscle, similar to that of hepcidin, a key protein implicated in iron metabolism. Urinary hepcidin levels were depressed in individuals with juvenile hemochromatosis, suggesting that hemojuvelin is probably not the hepcidin receptor. Rather, HFE2 seems to modulate hepcidin expression.

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Authors: Papanikolaou, G., Samuels, M. E., Ludwig, E. H., MacDonald, M. L. E., Franchini, P. L., Dubé, M.-P., Andres, L., MacFarlane, J., Sakellaropoulos, N., Politou, M., Nemeth, E., Thompson, J., Risler, J. K., Zaborowska, C., Babakaiff, R., Radomski, C. C., Pape, T. D., Davidas, O., Christakis, J., Brissot, P., Lockitch, G., Ganz, T., Hayden, M. R., & Goldberg, Y. P.
Affiliations: National and Kapodistrian University of Athens (GR)
University of California, Los Angeles (US)
Theageneio General Hospital (GR)
Inserm (FR)
University of British Columbia (CA)
Corresponding author: Hayden, Michael R
ORCID: Papanikolaou, George
Samuels, Mark E
Ludwig, Erwin H
MacDonald, Marcia L E
Dubé, Marie-Pierre
Politou, Marianna
Nemeth, Elizabeta
Brissot, Pierre
Ganz, Tomas
Hayden, Michael R
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2003-11-30
Volume: 36
Issue: 1
Pages: 77-82
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng1274
OpenAlex: W2116064842
Cited by: 974
References: 29
Citations by year: 2026: 5 · 2025: 10 · 2024: 12 · 2023: 14 · 2022: 13 · 2021: 27 · 2020: 23 · 2019: 20 · 2018: 31 · 2017: 44 · 2016: 32 · 2015: 35 · 2014: 32 · 2013: 47 · 2012: 55
FWCI: 35.51
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Funders: BC Children's Hospital
National and Kapodistrian University of Athens
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: juvenile hemochromatosis, hemojuvelin, iron overload, chromosome 1q, positional cloning, iron metabolism, hepcidin, autosomal recessive disorder
MeSH terms: Hemochromatosis Protein, Adolescent, Adult, Amino Acid Sequence, Base Sequence, Child, Chromosomes, Human, Pair 1, Hemochromatosis, Humans, Membrane Proteins, Middle Aged, Molecular Sequence Data, Mutation, Iron Overload, GPI-Linked Proteins

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Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis

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