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X Demographics
Mendeley readers
Attention Score in Context
| Title |
Whole-genome sequencing reveals principles of brain retrotransposition in neurodevelopmental disorders
|
|---|---|
| Published in |
Cell Research, January 2018
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| DOI | 10.1038/cr.2018.8 |
| Pubmed ID | |
| Authors |
Jasmine Jacob-Hirsch, Eran Eyal, Binyamin A Knisbacher, Jonathan Roth, Karen Cesarkas, Chen Dor, Sarit Farage-Barhom, Vered Kunik, Amos J Simon, Moran Gal, Michal Yalon, Sharon Moshitch-Moshkovitz, Rick Tearle, Shlomi Constantini, Erez Y Levanon, Ninette Amariglio, Gideon Rechavi |
| Abstract |
Neural progenitor cells undergo somatic retrotransposition events, mainly involving L1 elements, which can be potentially deleterious. Here, we analyze the whole genomes of 20 brain samples and 80 non-brain samples, and characterized the retrotransposition landscape of patients affected by a variety of neurodevelopmental disorders including Rett syndrome, tuberous sclerosis, ataxia-telangiectasia and autism. We report that the number of retrotranspositions in brain tissues is higher than that observed in non-brain samples and even higher in pathologic vs normal brains. The majority of somatic brain retrotransposons integrate into pre-existing repetitive elements, preferentially A/T rich L1 sequences, resulting in nested insertions. Our findings document the fingerprints of encoded endonuclease independent mechanisms in the majority of L1 brain insertion events. The insertions are "non-classical" in that they are truncated at both ends, integrate in the same orientation as the host element, and their target sequences are enriched with a CCATT motif in contrast to the classical endonuclease motif of most other retrotranspositions. We show that L1Hs elements integrate preferentially into genes associated with neural functions and diseases. We propose that pre-existing retrotransposons act as "lightning rods" for novel insertions, which may give fine modulation of gene expression while safeguarding from deleterious events. Overwhelmingly uncontrolled retrotransposition may breach this safeguard mechanism and increase the risk of harmful mutagenesis in neurodevelopmental disorders.Cell Research advance online publication 12 January 2018; doi:10.1038/cr.2018.8. |
X Demographics
The data shown below were collected from the profiles of 37 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 6 | 16% |
| United Kingdom | 5 | 14% |
| France | 2 | 5% |
| Netherlands | 1 | 3% |
| Cyprus | 1 | 3% |
| Australia | 1 | 3% |
| Portugal | 1 | 3% |
| Spain | 1 | 3% |
| Germany | 1 | 3% |
| Other | 0 | 0% |
| Unknown | 18 | 49% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 22 | 59% |
| Scientists | 11 | 30% |
| Practitioners (doctors, other healthcare professionals) | 3 | 8% |
| Science communicators (journalists, bloggers, editors) | 1 | 3% |
Mendeley readers
The data shown below were compiled from readership statistics for 113 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 113 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 23 | 20% |
| Researcher | 14 | 12% |
| Student > Master | 12 | 11% |
| Professor > Associate Professor | 9 | 8% |
| Professor | 8 | 7% |
| Other | 16 | 14% |
| Unknown | 31 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 26 | 23% |
| Agricultural and Biological Sciences | 20 | 18% |
| Neuroscience | 13 | 12% |
| Medicine and Dentistry | 8 | 7% |
| Psychology | 4 | 4% |
| Other | 6 | 5% |
| Unknown | 36 | 32% |
Attention Score in Context
This research output has an Altmetric Attention Score of 20. 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 21 December 2021.
All research outputs
#1,867,881
of 25,654,806 outputs
Outputs from Cell Research
#283
of 2,069 outputs
Outputs of similar age
#42,042
of 452,800 outputs
Outputs of similar age from Cell Research
#5
of 33 outputs
Altmetric has tracked 25,654,806 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 2,069 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 19.3. This one has done well, scoring higher than 86% 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 452,800 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 90% 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 well, scoring higher than 84% of its contemporaries.