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A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle

Overview of attention for article published in BMC Genetics, December 2016
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  • In the top 25% of all research outputs scored by Altmetric
  • High Attention Score compared to outputs of the same age (81st percentile)
  • Good Attention Score compared to outputs of the same age and source (76th percentile)

Mentioned by

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1 blog
twitter
2 tweeters

Citations

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25 Dimensions

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29 Mendeley
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Title
A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle
Published in
BMC Genetics, December 2016
DOI 10.1186/s12863-016-0458-2
Pubmed ID
Authors

Hubert Pausch, Simon Ammermüller, Christine Wurmser, Henning Hamann, Jens Tetens, Cord Drögemüller, Ruedi Fries

Abstract

The widespread use of individual sires for artificial insemination promotes the propagation of recessive conditions. Inadvertent matings between unnoticed carriers of deleterious alleles may result in the manifestation of fatal phenotypes in their progeny. Breeding consultants and farmers reported on Vorderwald calves with a congenital skin disease. The clinical findings in affected calves were compatible with epidermolysis bullosa. Pedigree analysis indicated autosomal recessive inheritance of epidermolysis bullosa in Vorderwald cattle. We genotyped two diseased and 41 healthy animals at 41,436 single nucleotide polymorphisms and performed whole-genome haplotype-based association testing, which allowed us to map the locus responsible for the skin disease to the distal end of bovine chromosome 22 (P = 8.0 × 10(-14)). The analysis of whole-genome re-sequencing data of one diseased calf, three obligate mutation carriers and 1682 healthy animals from various bovine breeds revealed a nonsense mutation (rs876174537, p.Arg1588X) in the COL7A1 gene that segregates with the disease. The same mutation was previously detected in three calves with dystrophic epidermolysis bullosa from the Rotes Höhenvieh cattle breed. We show that diseased animals from Vorderwald and Rotes Höhenvieh cattle are identical by descent for an 8.72 Mb haplotype encompassing rs876174537 indicating they inherited the deleterious allele from a recent common ancestor. Autosomal recessive epidermolysis bullosa in Vorderwald and Rotes Höhenvieh cattle is caused by a nonsense mutation in the COL7A1 gene. Our findings demonstrate that deleterious alleles may segregate across cattle populations without apparent admixture. The identification of the causal mutation now enables the reliable detection of carrier animals. Genome-based mating strategies can avoid inadvertent matings of carrier animals thereby preventing the birth of homozygous calves that suffer from a painful skin disease.

Twitter Demographics

The data shown below were collected from the profiles of 2 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 29 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Portugal 1 3%
Unknown 28 97%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 10 34%
Researcher 5 17%
Student > Bachelor 2 7%
Student > Master 2 7%
Other 1 3%
Other 2 7%
Unknown 7 24%
Readers by discipline Count As %
Agricultural and Biological Sciences 12 41%
Biochemistry, Genetics and Molecular Biology 4 14%
Veterinary Science and Veterinary Medicine 3 10%
Unspecified 2 7%
Psychology 1 3%
Other 0 0%
Unknown 7 24%

Attention Score in Context

This research output has an Altmetric Attention Score of 9. 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 09 March 2017.
All research outputs
#1,257,100
of 9,171,443 outputs
Outputs from BMC Genetics
#78
of 750 outputs
Outputs of similar age
#57,396
of 310,718 outputs
Outputs of similar age from BMC Genetics
#3
of 13 outputs
Altmetric has tracked 9,171,443 research outputs across all sources so far. Compared to these this one has done well and is in the 86th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 750 research outputs from this source. They receive a mean Attention Score of 3.3. This one has done well, scoring higher than 89% 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 310,718 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 81% of its contemporaries.
We're also able to compare this research output to 13 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.