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| Status |
Public on Mar 28, 2020 |
| Title |
A deletion in Eml1 leads to bilateral subcortical heterotopia in the tish rat |
| Organism |
Rattus norvegicus |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
Malformations of cortical development (MCD) are present in up to 40% of children with pharmacoresistant epilepsy. Although epilepsy surgery can be successful in a subset of children, not all forms of MCD are operable. Understanding the genetic and neurobiological mechanisms underlying MCD and MCD-related epilepsy are necessary for the development of novel anti-epilepsy drugs. The tish (telencephalic internal structural heterotopia) rat is a unique model of MCD and spontaneous seizures, but the underlying genetic mutation has been, heretofore, unknown. DNA and RNA-sequencing revealed that a deletion encompassing a previously unannotated exon markedly diminished EML1 transcript and protein abundance in the tish brain. Developmental electrographic characterization of the tish rat demonstrated spontaneous spike-wave discharge (SWD) bursts beginning as early as postnatal day (P) 17. A dihybrid cross demonstrated that the mutantEml1 allele segregates with the observed dysplastic cortex and SWD bursts in monogenic autosomal recessive frequencies. Our data link the development of the bilateral, heterotopic dysplastic cortex of the tish rat to a mutation in Eml1 and provide a novel rat model of MCD.
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| Overall design |
Examination of gene expression in TISH vs. SD rats
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| Contributor(s) |
Grosenbaugh DK, Joshi S, Fitzgerald MP, Lee KS, Wagley P, Koeppel AF, Turner SD, McConnell MJ, Goodkin HP |
| Citation(s) |
32179177 |
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| Submission date |
Mar 27, 2020 |
| Last update date |
Jun 27, 2020 |
| Contact name |
Pankaj Kumar |
| E-mail(s) |
pk7z@virginia.edu
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| Organization name |
University of Virginia
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| Department |
Bioinformatics Core
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| Street address |
JPA, 1312A Pinn Hall
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| City |
Charlottesville |
| State/province |
VA |
| ZIP/Postal code |
22908 |
| Country |
USA |
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| Platforms (1) |
| GPL20084 |
Illumina NextSeq 500 (Rattus norvegicus) |
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| Samples (6)
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| Relations |
| BioProject |
PRJNA615896 |
| SRA |
SRP254356 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE147663_Rnor_6.0_Gene_Count.txt.gz |
644.8 Kb |
(ftp)(http) |
TXT |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data are available on Series record |
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