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Mendeley readers
Attention Score in Context
| Title |
Polycomb repressive complex 1 provides a molecular explanation for repeat copy number dependency in FSHD muscular dystrophy
|
|---|---|
| Published in |
Human Molecular Genetics, December 2016
|
| DOI | 10.1093/hmg/ddw426 |
| Pubmed ID | |
| Authors |
Valentina Casa, Valeria Runfola, Stefano Micheloni, Arif Aziz, F. Jeffrey Dilworth, Davide Gabellini |
| Abstract |
Repression of repetitive elements is crucial to preserve genome integrity and has been traditionally ascribed to constitutive heterochromatin pathways. FacioScapuloHumeral Muscular Dystrophy (FSHD), one of the most common myopathies, is characterized by a complex interplay of genetic and epigenetic events. The main FSHD form is linked to reduced copy number of the D4Z4 macrosatellite repeat on 4q35, causing loss of silencing and aberrant expression of the D4Z4-embedded DUX4 gene leading to disease. By an unknown mechanism, D4Z4 copy-number correlates with FSHD phenotype. Here we show that the DUX4 proximal promoter (DUX4p) is sufficient to nucleate the enrichment of both constitutive and facultative heterochromatin components and to mediate a copy-number dependent gene silencing. We found that both the CpG/GC dense DNA content and the repetitive nature of DUX4p arrays are important for their repressive ability. We showed that DUX4p mediates a copy number-dependent Polycomb Repressive Complex 1 (PRC1) recruitment, which is responsible for the copy-number dependent gene repression. Overall, we directly link genetic and epigenetic defects in FSHD by proposing a novel molecular explanation for the copy number-dependency in FSHD pathogenesis, and offer insight into the molecular functions of repeats in chromatin regulation. |
X Demographics
The data shown below were collected from the profiles of 9 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Ireland | 1 | 11% |
| Canada | 1 | 11% |
| United States | 1 | 11% |
| Unknown | 6 | 67% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 7 | 78% |
| Practitioners (doctors, other healthcare professionals) | 1 | 11% |
| Scientists | 1 | 11% |
Mendeley readers
The data shown below were compiled from readership statistics for 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 29 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 6 | 21% |
| Student > Ph. D. Student | 5 | 17% |
| Student > Master | 3 | 10% |
| Professor | 2 | 7% |
| Librarian | 2 | 7% |
| Other | 4 | 14% |
| Unknown | 7 | 24% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 12 | 41% |
| Agricultural and Biological Sciences | 4 | 14% |
| Medicine and Dentistry | 3 | 10% |
| Social Sciences | 1 | 3% |
| Unknown | 9 | 31% |
Attention Score in Context
This research output has an Altmetric Attention Score of 5. 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 03 May 2017.
All research outputs
#6,271,250
of 22,925,760 outputs
Outputs from Human Molecular Genetics
#3,180
of 8,037 outputs
Outputs of similar age
#117,618
of 421,458 outputs
Outputs of similar age from Human Molecular Genetics
#39
of 85 outputs
Altmetric has tracked 22,925,760 research outputs across all sources so far. This one has received more attention than most of these and is in the 72nd percentile.
So far Altmetric has tracked 8,037 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 6.9. This one has gotten more attention than average, scoring higher than 60% 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 421,458 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 71% of its contemporaries.
We're also able to compare this research output to 85 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 54% of its contemporaries.