↓ Skip to main content

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

Overview of attention for article published in Nature Genetics, November 2003
Altmetric Badge

About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (96th percentile)
  • High Attention Score compared to outputs of the same age and source (90th percentile)

Mentioned by

policy
2 policy sources
patent
26 patents
wikipedia
1 Wikipedia page

Citations

dimensions_citation
840 Dimensions

Readers on

mendeley
216 Mendeley
citeulike
1 CiteULike
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Mutations in HFE2 cause iron overload in chromosome 1q–linked juvenile hemochromatosis
Published in
Nature Genetics, November 2003
DOI 10.1038/ng1274
Pubmed ID
Authors

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

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.

Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 216 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Germany 1 <1%
France 1 <1%
Italy 1 <1%
Brazil 1 <1%
United States 1 <1%
Unknown 211 98%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 33 15%
Student > Bachelor 30 14%
Researcher 23 11%
Student > Doctoral Student 19 9%
Student > Master 18 8%
Other 54 25%
Unknown 39 18%
Readers by discipline Count As %
Medicine and Dentistry 58 27%
Agricultural and Biological Sciences 46 21%
Biochemistry, Genetics and Molecular Biology 40 19%
Immunology and Microbiology 5 2%
Veterinary Science and Veterinary Medicine 3 1%
Other 19 9%
Unknown 45 21%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 15. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 November 2023.
All research outputs
#1,997,758
of 22,786,691 outputs
Outputs from Nature Genetics
#2,612
of 7,187 outputs
Outputs of similar age
#4,512
of 132,542 outputs
Outputs of similar age from Nature Genetics
#2
of 33 outputs
Altmetric has tracked 22,786,691 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 7,187 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 41.0. This one has gotten more attention than average, scoring higher than 63% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 132,542 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 96% of its contemporaries.
We're also able to compare this research output to 33 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 90% of its contemporaries.