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Glutamine Repeat Variants in Human RUNX2 Associated with Decreased Femoral Neck BMD, Broadband Ultrasound Attenuation and Target Gene Transactivation

Overview of attention for article published in PLOS ONE, August 2012
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Title
Glutamine Repeat Variants in Human RUNX2 Associated with Decreased Femoral Neck BMD, Broadband Ultrasound Attenuation and Target Gene Transactivation
Published in
PLOS ONE, August 2012
DOI 10.1371/journal.pone.0042617
Pubmed ID
Authors

Nigel A. Morrison, Alexandre A. Stephens, Motomi Osato, Patsie Polly, Timothy C. Tan, Namiko Yamashita, James D. Doecke, Julie Pasco, Nicolette Fozzard, Graeme Jones, Stuart H. Ralston, Philip N. Sambrook, Richard L. Prince, Geoff C. Nicholson

Abstract

RUNX2 is an essential transcription factor required for skeletal development and cartilage formation. Haploinsufficiency of RUNX2 leads to cleidocranial displaysia (CCD) a skeletal disorder characterised by gross dysgenesis of bones particularly those derived from intramembranous bone formation. A notable feature of the RUNX2 protein is the polyglutamine and polyalanine (23Q/17A) domain coded by a repeat sequence. Since none of the known mutations causing CCD characterised to date map in the glutamine repeat region, we hypothesised that Q-repeat mutations may be related to a more subtle bone phenotype. We screened subjects derived from four normal populations for Q-repeat variants. A total of 22 subjects were identified who were heterozygous for a wild type allele and a Q-repeat variant allele: (15Q, 16Q, 18Q and 30Q). Although not every subject had data for all measures, Q-repeat variants had a significant deficit in BMD with an average decrease of 0.7SD measured over 12 BMD-related parameters (p = 0.005). Femoral neck BMD was measured in all subjects (-0.6SD, p = 0.0007). The transactivation function of RUNX2 was determined for 16Q and 30Q alleles using a reporter gene assay. 16Q and 30Q alleles displayed significantly lower transactivation function compared to wild type (23Q). Our analysis has identified novel Q-repeat mutations that occur at a collective frequency of about 0.4%. These mutations significantly alter BMD and display impaired transactivation function, introducing a new class of functionally relevant RUNX2 mutants.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Belgium 1 3%
Canada 1 3%
Unknown 30 94%

Demographic breakdown

Readers by professional status Count As %
Researcher 6 19%
Student > Ph. D. Student 6 19%
Student > Bachelor 4 13%
Other 3 9%
Student > Master 3 9%
Other 5 16%
Unknown 5 16%
Readers by discipline Count As %
Medicine and Dentistry 10 31%
Agricultural and Biological Sciences 10 31%
Biochemistry, Genetics and Molecular Biology 3 9%
Economics, Econometrics and Finance 2 6%
Neuroscience 1 3%
Other 0 0%
Unknown 6 19%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 23 October 2012.
All research outputs
#14,150,222
of 22,675,759 outputs
Outputs from PLOS ONE
#115,596
of 193,562 outputs
Outputs of similar age
#98,050
of 167,391 outputs
Outputs of similar age from PLOS ONE
#2,438
of 4,270 outputs
Altmetric has tracked 22,675,759 research outputs across all sources so far. This one is in the 35th percentile – i.e., 35% of other outputs scored the same or lower than it.
So far Altmetric has tracked 193,562 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 15.0. This one is in the 36th percentile – i.e., 36% of its peers scored the same or lower than it.
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We're also able to compare this research output to 4,270 others from the same source and published within six weeks on either side of this one. This one is in the 38th percentile – i.e., 38% of its contemporaries scored the same or lower than it.