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Attention Score in Context
| Title |
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses
|
|---|---|
| Published in |
BMC Genomics, October 2015
|
| DOI | 10.1186/s12864-015-1936-z |
| Pubmed ID | |
| Authors |
Bart J. Ducro, Anouk Schurink, John W. M. Bastiaansen, Iris J. M. Boegheim, Frank G. van Steenbeek, Manon Vos-Loohuis, Isaac J. Nijman, Glen R. Monroe, Ids Hellinga, Bert W. Dibbits, Willem Back, Peter A. J. Leegwater |
| Abstract |
Hydrocephalus in Friesian horses is a developmental disorder that often results in stillbirth of affected foals and dystocia in dams. The occurrence is probably related to a founder effect and inbreeding in the population. The aim of our study was to find genomic associations, to investigate the mode of inheritance, to allow a DNA test for hydrocephalus in Friesian horses to be developed. In case of a monogenic inheritance we aimed to identify the causal mutation. A genome-wide association study of hydrocephalus in 13 cases and 69 controls using 29,720 SNPs indicated the involvement of a region on ECA1 (P <1.68 × 10(-6)). Next generation DNA sequence analysis of 4 cases and 6 controls of gene exons within the region revealed a mutation in β-1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2) as the likely cause of hydrocephalus in Friesian horses. The nonsense mutation XM_001491545 c.1423C>T corresponding to XP_001491595 p.Gln475* was identical to a B3GALNT2 mutation identified in a human case of muscular dystrophy-dystroglycanopathy with hydrocephalus. All 16 available cases and none of the controls were homozygous for the mutation, and all 17 obligate carriers (= dams of cases) were heterozygous. A random sample of the Friesian horse population (n = 865) was tested for the mutation in a commercial laboratory. One-hundred and forty-seven horses were carrier and 718 horses were homozygous for the normal allele; the estimated allele frequency in the Friesian horse population is 0.085. Hydrocephalus in Friesian horses has an autosomal recessive mode of inheritance. A nonsense mutation XM_001491545 c.1423C>T corresponding to XP_001491595 p.Gln475* in B3GALNT2 (1:75,859,296-75,909,376) is concordant with hydrocephalus in Friesian horses. Application of a DNA test in the breeding programme will reduce the losses caused by hydrocephalus in the Friesian horse population. |
X Demographics
The data shown below were collected from the profiles of 4 X users who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 4 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 75% |
| Scientists | 1 | 25% |
Mendeley readers
The data shown below were compiled from readership statistics for 47 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Netherlands | 1 | 2% |
| Belgium | 1 | 2% |
| Unknown | 45 | 96% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 8 | 17% |
| Student > Master | 6 | 13% |
| Student > Bachelor | 5 | 11% |
| Student > Ph. D. Student | 5 | 11% |
| Lecturer > Senior Lecturer | 4 | 9% |
| Other | 10 | 21% |
| Unknown | 9 | 19% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 13 | 28% |
| Veterinary Science and Veterinary Medicine | 9 | 19% |
| Medicine and Dentistry | 7 | 15% |
| Biochemistry, Genetics and Molecular Biology | 4 | 9% |
| Mathematics | 2 | 4% |
| Other | 2 | 4% |
| Unknown | 10 | 21% |
Attention Score in Context
This research output has an Altmetric Attention Score of 16. 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 16 April 2023.
All research outputs
#2,152,643
of 24,079,942 outputs
Outputs from BMC Genomics
#579
of 10,893 outputs
Outputs of similar age
#30,693
of 282,990 outputs
Outputs of similar age from BMC Genomics
#18
of 370 outputs
Altmetric has tracked 24,079,942 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 91st percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 10,893 research outputs from this source. They receive a mean Attention Score of 4.8. This one has done particularly well, scoring higher than 94% 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 282,990 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 89% of its contemporaries.
We're also able to compare this research output to 370 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 95% of its contemporaries.