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A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish

Overview of attention for article published in PLoS ONE, July 2015
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  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (76th percentile)
  • Good Attention Score compared to outputs of the same age and source (76th percentile)

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Title
A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish
Published in
PLoS ONE, July 2015
DOI 10.1371/journal.pone.0133986
Pubmed ID
Authors

Zlatko Radev, Jean-Michel Hermel, Yannick Elipot, Sandrine Bretaud, Sylvain Arnould, Philippe Duchateau, Florence Ruggiero, Jean-Stéphane Joly, Frédéric Sohm

Abstract

Presently, human collagen VI-related diseases such as Ullrich congenital muscular dystrophy (UCMD) and Bethlem myopathy (BM) remain incurable, emphasizing the need to unravel their etiology and improve their treatments. In UCMD, symptom onset occurs early, and both diseases aggravate with ageing. In zebrafish fry, morpholinos reproduced early UCMD and BM symptoms but did not allow to study the late phenotype. Here, we produced the first zebrafish line with the human mutation frequently found in collagen VI-related disorders such as UCMD and BM. We used a transcription activator-like effector nuclease (TALEN) to design the col6a1ama605003-line with a mutation within an essential splice donor site, in intron 14 of the col6a1 gene, which provoke an in-frame skipping of exon 14 in the processed mRNA. This mutation at a splice donor site is the first example of a template-independent modification of splicing induced in zebrafish using a targetable nuclease. This technique is readily expandable to other organisms and can be instrumental in other disease studies. Histological and ultrastructural analyzes of homozygous and heterozygous mutant fry and 3 months post-fertilization (mpf) fish revealed co-dominantly inherited abnormal myofibers with disorganized myofibrils, enlarged sarcoplasmic reticulum, altered mitochondria and misaligned sarcomeres. Locomotion analyzes showed hypoxia-response behavior in 9 mpf col6a1 mutant unseen in 3 mpf fish. These symptoms worsened with ageing as described in patients with collagen VI deficiency. Thus, the col6a1ama605003-line is the first adult zebrafish model of collagen VI-related diseases; it will be instrumental both for basic research and drug discovery assays focusing on this type of disorders.

Twitter Demographics

The data shown below were collected from the profiles of 7 tweeters 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 14 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 14 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 4 29%
Student > Master 3 21%
Professor 2 14%
Researcher 2 14%
Librarian 2 14%
Other 1 7%
Readers by discipline Count As %
Agricultural and Biological Sciences 10 71%
Arts and Humanities 1 7%
Neuroscience 1 7%
Medicine and Dentistry 1 7%
Engineering 1 7%
Other 0 0%

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 25 December 2015.
All research outputs
#1,276,935
of 6,865,651 outputs
Outputs from PLoS ONE
#25,688
of 101,744 outputs
Outputs of similar age
#51,059
of 223,486 outputs
Outputs of similar age from PLoS ONE
#1,456
of 6,142 outputs
Altmetric has tracked 6,865,651 research outputs across all sources so far. Compared to these this one has done well and is in the 81st percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 101,744 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 9.9. This one has gotten more attention than average, scoring higher than 74% 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 223,486 tracked outputs that were published within six weeks on either side of this one in any source. This one has done well, scoring higher than 76% of its contemporaries.
We're also able to compare this research output to 6,142 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 76% of its contemporaries.