TRIM39-RPP21 Variants (∆19InsCCC) Are Not Associated with Juvenile Idiopathic Epilepsy in Egyptian Arabian Horses
- Resource Type
- Authors
- Janel Peterson; Carrie J. Finno; Monica R Aleman; Anna R. Dahlgren; Erin N. Hales; Victor N. Rivas
- Source
- Genes, vol 10, iss 10
Genes, Vol 10, Iss 10, p 816 (2019)
Genes
- Subject
- lcsh:QH426-470
Genotype
040301 veterinary sciences
Ubiquitin-Protein Ligases
seizure
Physiology
First year of life
Biology
Neurodegenerative
Ribonuclease P
0403 veterinary science
03 medical and health sciences
Epilepsy
symbols.namesake
0302 clinical medicine
Seizures
medicine
Genetics
Juvenile
2.1 Biological and endogenous factors
Animals
Horses
Allele
Genetics (clinical)
Sequence Deletion
equine
Sanger sequencing
Brief Report
Neurosciences
Electroencephalography
04 agricultural and veterinary sciences
electroencephalogram
medicine.disease
Breed
Brain Disorders
lcsh:Genetics
convulsion
symbols
Horse Diseases
Egypt
Inherited disease
030217 neurology & neurosurgery
- Language
Juvenile idiopathic epilepsy (JIE) is an inherited disease characterized by recurrent seizures during the first year of life in Egyptian Arabian horses. Definitive diagnosis requires an electroencephalogram (EEG) performed by a veterinary specialist. A recent study has suggested that a 19 base-pair deletion, along with a triple-C insertion, in intron five of twelve (∆19InsCCC; chr20:29542397-29542425: GTTCAGGGGACCACATGGCTCTCTATAGA>TATCTTAAGACCC) of the Tripartite Motif-Containing 39-Ribonuclease p/mrp 21kDa Subunit (TRIM39-RPP21) gene is associated with JIE. To confirm this association, a new sample set consisting of nine EEG-phenotyped affected and nine unaffected Egyptian Arabian horses were genotyped using Sanger sequencing. There was no significant genotypic (P = 1.00) or allelic (P = 0.31) association with the ∆19InsCCC variant and JIE status. The previously reported markers in TRIM39-RPPB1 are therefore not associated with JIE in well-phenotyped samples. The ∆19InsCCC variant is a common variant that happens to be positioned in a highly polymorphic region in the Arabian breed.