| Title |
Defining Trends in Global Gene Expression in Arabian Horses with Cerebellar Abiotrophy
|
|---|---|
| Published in |
The Cerebellum, October 2016
|
| DOI | 10.1007/s12311-016-0823-8 |
| Pubmed ID | |
| Authors |
E. Y. Scott, M. C. T. Penedo, J. D. Murray, C. J. Finno |
| Abstract |
Equine cerebellar abiotrophy (CA) is a hereditary neurodegenerative disease that affects the Purkinje neurons of the cerebellum and causes ataxia in Arabian foals. Signs of CA are typically first recognized either at birth to any time up to 6 months of age. CA is inherited as an autosomal recessive trait and is associated with a single nucleotide polymorphism (SNP) on equine chromosome 2 (13074277G>A), located in the fourth exon of TOE1 and in proximity to MUTYH on the antisense strand. We hypothesize that unraveling the functional consequences of the CA SNP using RNA-seq will elucidate the molecular pathways underlying the CA phenotype. RNA-seq (100 bp PE strand-specific) was performed in cerebellar tissue from four CA-affected and five age-matched unaffected horses. Three pipelines for differential gene expression (DE) analysis were used (Tophat2/Cuffdiff2, Kallisto/EdgeR, and Kallisto/Sleuth) with 151 significant DE genes identified by all three pipelines in CA-affected horses. TOE1 (Log2(foldchange) = 0.92, p = 0.66) and MUTYH (Log2(foldchange) = 1.13, p = 0.66) were not differentially expressed. Among the major pathways that were differentially expressed, genes associated with calcium homeostasis and specifically expressed in Purkinje neurons, CALB1 (Log2(foldchange) = -1.7, p < 0.01) and CA8 (Log2(foldchange) = -0.97, p < 0.01), were significantly down-regulated, confirming loss of Purkinje neurons. There was also a significant up-regulation of markers for microglial phagocytosis, TYROBP (Log2(foldchange) = 1.99, p < 0.01) and TREM2 (Log2(foldchange) = 2.02, p < 0.01). These findings reaffirm a loss of Purkinje neurons in CA-affected horses along with a potential secondary loss of granular neurons and activation of microglial cells. |
Mendeley readers
The data shown below were compiled from readership statistics for 26 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 26 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 3 | 12% |
| Student > Bachelor | 3 | 12% |
| Student > Doctoral Student | 2 | 8% |
| Other | 2 | 8% |
| Researcher | 2 | 8% |
| Other | 4 | 15% |
| Unknown | 10 | 38% |
| Readers by discipline | Count | As % |
|---|---|---|
| Veterinary Science and Veterinary Medicine | 7 | 27% |
| Biochemistry, Genetics and Molecular Biology | 2 | 8% |
| Agricultural and Biological Sciences | 2 | 8% |
| Nursing and Health Professions | 1 | 4% |
| Immunology and Microbiology | 1 | 4% |
| Other | 2 | 8% |
| Unknown | 11 | 42% |
Attention Score in Context
This research output has an Altmetric Attention Score of 6. 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 September 2020.
All research outputs
#5,049,987
of 23,975,976 outputs
Outputs from The Cerebellum
#111
of 957 outputs
Outputs of similar age
#80,872
of 323,342 outputs
Outputs of similar age from The Cerebellum
#1
of 15 outputs
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So far Altmetric has tracked 957 research outputs from this source. They receive a mean Attention Score of 3.2. This one has done well, scoring higher than 87% of its peers.
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We're also able to compare this research output to 15 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 93% of its contemporaries.