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Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading

Overview of attention for article published in Human Genomics, April 2018
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1 tweeter

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9 Mendeley
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Title
Evaluation of a bone morphogenetic protein 6 variant as a cause of iron loading
Published in
Human Genomics, April 2018
DOI 10.1186/s40246-018-0155-5
Pubmed ID
Authors

Cameron J. McDonald, Gautam Rishi, Eriza S. Secondes, Lesa Ostini, Daniel F. Wallace, Darrell H. G. Crawford, Hanlon Sia, Paul Clark, V. Nathan Subramaniam

Abstract

Atypical iron overload without variation in the five clinically associated hereditary hemochromatosis genes is now recognized; however, their etiology remains unknown. Since the identification of iron overload in the bone morphogenetic protein 6 (Bmp6) knockout mouse, the search has been on for clinically pathogenic variants in the BMP6 gene. A recent report proposes that variants in the pro-peptide region of BMP6 are the underlying cause of several cases of iron overload. We performed targeted next-generation sequencing on three cases of atypical iron overload with Asian ethnicity and identified a p.Q118dup (aka p.E112indelEQ, p.Q115dup, p.Q118_L119insQ) variant in BMP6. The purpose of this study was to characterize the molecular function of the identified BMP6 variant. Molecular characterization by immunofluorescence microscopy and Western blotting of transfected cells, bioinformatics, and population analyses was performed. In contrast to reports for other BMP6 pro-peptide variants in this region, our data indicates that this variant does not affect the function of the mature BMP6 protein. Our data suggest that assignment of disease causation in clinical cases of iron overload to pro-peptide variants in BMP6 should thus be treated with caution and requires biological characterization.

Twitter Demographics

The data shown below were collected from the profile of 1 tweeter who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 9 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 9 100%

Demographic breakdown

Readers by professional status Count As %
Researcher 3 33%
Student > Doctoral Student 1 11%
Other 1 11%
Student > Master 1 11%
Student > Bachelor 1 11%
Other 0 0%
Unknown 2 22%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 2 22%
Medicine and Dentistry 2 22%
Agricultural and Biological Sciences 1 11%
Social Sciences 1 11%
Immunology and Microbiology 1 11%
Other 0 0%
Unknown 2 22%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. 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 10 June 2018.
All research outputs
#9,965,212
of 13,047,693 outputs
Outputs from Human Genomics
#191
of 244 outputs
Outputs of similar age
#188,963
of 271,136 outputs
Outputs of similar age from Human Genomics
#6
of 6 outputs
Altmetric has tracked 13,047,693 research outputs across all sources so far. This one is in the 23rd percentile – i.e., 23% of other outputs scored the same or lower than it.
So far Altmetric has tracked 244 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 5.8. This one is in the 21st percentile – i.e., 21% of its peers scored the same or lower than it.
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 271,136 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 30th percentile – i.e., 30% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 6 others from the same source and published within six weeks on either side of this one.