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A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy

Overview of attention for article published in Cell, April 2012
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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 (94th percentile)
  • Good Attention Score compared to outputs of the same age and source (71st percentile)

Mentioned by

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13 X users
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14 patents
facebook
2 Facebook pages
wikipedia
1 Wikipedia page
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1 research highlight platform

Citations

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335 Dimensions

Readers on

mendeley
412 Mendeley
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2 CiteULike
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Title
A Long ncRNA Links Copy Number Variation to a Polycomb/Trithorax Epigenetic Switch in FSHD Muscular Dystrophy
Published in
Cell, April 2012
DOI 10.1016/j.cell.2012.03.035
Pubmed ID
Authors

Daphne S. Cabianca, Valentina Casa, Beatrice Bodega, Alexandros Xynos, Enrico Ginelli, Yujiro Tanaka, Davide Gabellini

Abstract

Repetitive sequences account for more than 50% of the human genome. Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal-dominant disease associated with reduction in the copy number of the D4Z4 repeat mapping to 4q35. By an unknown mechanism, D4Z4 deletion causes an epigenetic switch leading to de-repression of 4q35 genes. Here we show that the Polycomb group of epigenetic repressors targets D4Z4 in healthy subjects and that D4Z4 deletion is associated with reduced Polycomb silencing in FSHD patients. We identify DBE-T, a chromatin-associated noncoding RNA produced selectively in FSHD patients that coordinates de-repression of 4q35 genes. DBE-T recruits the Trithorax group protein Ash1L to the FSHD locus, driving histone H3 lysine 36 dimethylation, chromatin remodeling, and 4q35 gene transcription. This study provides insights into the biological function of repetitive sequences in regulating gene expression and shows how mutations of such elements can influence the progression of a human genetic disease.

X Demographics

X Demographics

The data shown below were collected from the profiles of 13 X users who shared this research output. Click here to find out more about how the information was compiled.
Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 412 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
United States 9 2%
Japan 4 <1%
Italy 3 <1%
Netherlands 3 <1%
United Kingdom 3 <1%
Bulgaria 1 <1%
Brazil 1 <1%
Mexico 1 <1%
Portugal 1 <1%
Other 4 <1%
Unknown 382 93%

Demographic breakdown

Readers by professional status Count As %
Researcher 108 26%
Student > Ph. D. Student 89 22%
Student > Master 49 12%
Student > Doctoral Student 23 6%
Student > Bachelor 22 5%
Other 73 18%
Unknown 48 12%
Readers by discipline Count As %
Agricultural and Biological Sciences 194 47%
Biochemistry, Genetics and Molecular Biology 110 27%
Medicine and Dentistry 31 8%
Neuroscience 5 1%
Immunology and Microbiology 4 <1%
Other 15 4%
Unknown 53 13%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 21. 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 30 January 2024.
All research outputs
#1,793,316
of 25,374,917 outputs
Outputs from Cell
#5,198
of 17,168 outputs
Outputs of similar age
#10,261
of 175,640 outputs
Outputs of similar age from Cell
#38
of 133 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 92nd percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 17,168 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 59.1. This one has gotten more attention than average, scoring higher than 69% 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 175,640 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 94% of its contemporaries.
We're also able to compare this research output to 133 others from the same source and published within six weeks on either side of this one. This one has gotten more attention than average, scoring higher than 71% of its contemporaries.