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A large deletion in RPGR causes XLPRA in Weimaraner dogs

Overview of attention for article published in Canine Medicine and Genetics, July 2016
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Title
A large deletion in RPGR causes XLPRA in Weimaraner dogs
Published in
Canine Medicine and Genetics, July 2016
DOI 10.1186/s40575-016-0037-x
Pubmed ID
Authors

Regina Kropatsch, Denis A. Akkad, Matthias Frank, Carsten Rosenhagen, Janine Altmüller, Peter Nürnberg, Jörg T. Epplen, Gabriele Dekomien

Abstract

Progressive retinal atrophy (PRA) belongs to a group of inherited retinal disorders associated with gradual vision impairment due to degeneration of retinal photoreceptors in various dog breeds. PRA is highly heterogeneous, with autosomal dominant, recessive or X-linked modes of inheritance. In this study we used exome sequencing to investigate the molecular genetic basis of a new type of PRA, which occurred spontaneously in a litter of German short-hair Weimaraner dogs. Whole exome sequencing in two PRA-affected Weimaraner dogs identified a large deletion comprising the first four exons of the X-linked retinitis pigmentosa GTPase regulator (RPGR) gene known to be involved in human retinitis pigmentosa and canine PRA. Screening of 16 individuals in the corresponding pedigree of short-hair Weimaraners by qPCR, verified the deletion in hemizygous or heterozygous state in one male and six female dogs, respectively. The mutation was absent in 88 additional unrelated Weimaraners. The deletion was not detectable in the parents of one older female which transmitted the mutation to her offspring, indicating that the RPGR deletion represents a de novo mutation concerning only recent generations of the Weimaraner breed in Germany. Our results demonstrate the value of an existing DNA biobank combined with exome sequencing to identify the underlying genetic cause of a spontaneously occurring inherited disease. Identification of the genetic cause has allowed the development of a diagnostic test, which should help to eradicate the PRA causing mutation from the respective canine line. Thus, planning of future pairings is facilitated and manifestation of this type of PRA can be prevented.

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 28 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 28 100%

Demographic breakdown

Readers by professional status Count As %
Other 4 14%
Student > Master 4 14%
Student > Ph. D. Student 3 11%
Researcher 2 7%
Student > Postgraduate 2 7%
Other 3 11%
Unknown 10 36%
Readers by discipline Count As %
Agricultural and Biological Sciences 6 21%
Biochemistry, Genetics and Molecular Biology 4 14%
Veterinary Science and Veterinary Medicine 4 14%
Medicine and Dentistry 4 14%
Engineering 1 4%
Other 0 0%
Unknown 9 32%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 2. 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 22 July 2016.
All research outputs
#15,169,949
of 25,374,917 outputs
Outputs from Canine Medicine and Genetics
#92
of 128 outputs
Outputs of similar age
#204,673
of 370,757 outputs
Outputs of similar age from Canine Medicine and Genetics
#4
of 4 outputs
Altmetric has tracked 25,374,917 research outputs across all sources so far. This one is in the 38th percentile – i.e., 38% of other outputs scored the same or lower than it.
So far Altmetric has tracked 128 research outputs from this source. They typically receive a lot more attention than average, with a mean Attention Score of 93.9. This one is in the 25th percentile – i.e., 25% of its peers scored the same or lower than it.
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 370,757 tracked outputs that were published within six weeks on either side of this one in any source. This one is in the 43rd percentile – i.e., 43% of its contemporaries scored the same or lower than it.
We're also able to compare this research output to 4 others from the same source and published within six weeks on either side of this one.