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| Status |
Public on Jun 01, 2016 |
| Title |
Boxer dataset for genome-wide association study of modifiers of risk of canine degenerative myelopathy in dogs homozygous for SOD1 mutation |
| Organism |
Canis lupus familiaris |
| Experiment type |
SNP genotyping by SNP array
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| Summary |
Degenerative myelopathy (DM) is a canine disease very similar to amyotrophic lateral sclerosis (ALS) in humans. We previously showed that DM is a promising model for ALS, as genome-wide association identified a mutation in SOD1, a known ALS gene. In this study, we identify a modifier gene, SP110, which strongly affects overall disease risk and age-of-onset in Pembroke Welsh corgis at risk of DM. Dissecting the complex genetics of this disease in a model organism may lead to new insights about risk and progression in both canine and human patients.
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| Overall design |
15 DM-affected and 10 unaffected Boxers homozygous for SOD1 mutation genotyped using the Illumina CanineHD array (~170,000 SNPs genomewide)
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| Contributor(s) |
Ivansson EL, Megquier KJ, Lindblad-Toh K |
| Citation missing |
Has this study been published? Please login to update or notify GEO. |
| |
| Submission date |
Apr 14, 2016 |
| Last update date |
Jun 01, 2016 |
| Contact name |
Kerstin Lindblad-Toh |
| Organization name |
Broad Institute
|
| Department |
Vertebrate Genome Biology
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| Street address |
715 Main Street
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| City |
Cambridge |
| State/province |
MA |
| ZIP/Postal code |
02142 |
| Country |
USA |
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| Platforms (1) |
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| Samples (25)
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| Relations |
| BioProject |
PRJNA318537 |
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