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Home / Equine Research Bank / J Genet Mutat Disord / Sequence Variant in the TRIM39-RPP21 Gene Readthrough is Sha...
Journal of genetic mutation disorders2022; 1(1); 103; doi: 10.1093/database/bar030

Sequence Variant in the TRIM39-RPP21 Gene Readthrough is Shared Across a Cohort of Arabian Foals Diagnosed with Juvenile Idiopathic Epilepsy.

Abstract: Juvenile idiopathic epilepsy (JIE) is a self-limiting neurological disorder with a suspected genetic predisposition affecting young Arabian foals of the Egyptian lineage. The condition is characterized by tonic-clonic seizures with intermittent post-ictal blindness, in which most incidents are sporadic and unrecognized. This study aimed to identify genetic components shared across a local cohort of Arabian foals diagnosed with JIE via a combined whole genome and targeted resequencing approach: Initial whole genome comparisons between a small cohort of nine diagnosed foals (cases) and 27 controls from other horse breeds identified variants uniquely shared amongst the case cohort. Further validation via targeted resequencing of these variants, that pertain to non-intergenic regions, on additional eleven case individuals revealed a single 19bp deletion coupled with a triple-C insertion (Δ19InsCCC) within the TRIM39-RPP21 gene readthrough that was uniquely shared across all case individuals, and absent from three additional Arabian controls. Furthermore, we have confirmed recent findings refuting potential linkage between JIE and other inherited diseases in the Arabian lineage, and refuted the potential linkage between JIE and genes predisposing a similar disorder in human newborns. This is the first study to report a genetic variant to be shared in a sub-population cohort of Arabian foals diagnosed with JIE. Further evaluation of the sensitivity and specificity of the Δ19InsCCC allele within additional cohorts of the Arabian horse is warranted in order to validate its credibility as a marker for JIE, and to ascertain whether it has been introduced into other horse breeds by Arabian ancestry.
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Publication Date: 2022-04-26 PubMed ID: 35465405PubMed Central: PMC9031527DOI: 10.1093/database/bar030Google Scholar: Lookup
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  • Journal Article

Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

The research article is about identifying a genetic variant that could cause Juvenile Idiopathic Epilepsy (JIE) in Arabian foals, with a focus on the TRIM39-RPP21 gene readthrough.

Objective and Approach

  • The objective of the study was to uncover potential genetic roots for Juvenile Idiopathic Epilepsy in Arabian foals, specifically of the Egyptian lineage. This condition leads to seizures and intermittent blindness and is often unnoticed due to its sporadic nature.
  • Researchers used a combined whole genome and targeted resequencing technique for the study. They started with whole genome comparisons between a small group of foals diagnosed with JIE and 27 controls from different horse breeds.

Research Findings

  • Unique variants shared amongst the diagnosed individuals emerged from this comparison. To confirm these findings, the researchers extended the study to eleven additional case individuals, applying targeted resequencing on these variants. This sequence of actions allowed the discovery of a specific 19bp deletion and a triple-C insertion (Δ19InsCCC) in the TRIM39-RPP21 gene, which was exclusively shared across all cases but absent in three additional Arabian controls.
  • Additional findings revealed that JIE was not linked to other inherited diseases among Arabians, nor it was linked to genes predisposing a similar disorder in newborn humans, contradicting previous research in this area.

Significance of the Study

  • This is the first study to report an exclusive genetic variant in a sub-population subset of Arabian foals diagnosed with JIE.
  • Further investigations are required to validate the Δ19InsCCC allele’s accuracy within additional Arabian horse cohorts. This will determine if it’s a credible marker for JIE, and whether this variant could have been introduced into other horse breeds by Arabian ancestry.

Cite This Article

APA
Polani S, Dean M, Lichter-Peled A, Hendrickson S, Tsang S, Fang X, Feng Y, Qiao W, Avni G, Kahila Bar-Gal G. (2022). Sequence Variant in the TRIM39-RPP21 Gene Readthrough is Shared Across a Cohort of Arabian Foals Diagnosed with Juvenile Idiopathic Epilepsy. J Genet Mutat Disord, 1(1), 103. https://doi.org/10.1093/database/bar030

Publication

Journal of genetic mutation disorders
NlmUniqueID: 101777641
Country: United States
Language: English
Volume: 1
Issue: 1
PII: 103

Researcher Affiliations

Polani, S
  • Koret School of Veterinary Medicine, The Robert H. Smith Faculty of Agriculture, Food and Environmental Sciences, The Hebrew University of Jerusalem, Rehovot, Israel.
Dean, M
  • National Cancer Institute, Division of Cancer Epidemiology & Genetics, Laboratory of Translational Genomics, USA.
Lichter-Peled, A
  • Koret School of Veterinary Medicine, The Robert H. Smith Faculty of Agriculture, Food and Environmental Sciences, The Hebrew University of Jerusalem, Rehovot, Israel.
Hendrickson, S
  • Department of Biology, Shepherd University, Shepherdstown, USA.
Tsang, S
  • BioMatrix LLC, USA.
Fang, X
  • BGI-Shenzhen, Shenzhen, China.
Feng, Y
  • BGI-Shenzhen, Shenzhen, China.
Qiao, W
  • BGI-Shenzhen, Shenzhen, China.
Avni, G
  • Medisoos Equine Clinic, Kibutz Magal, Israel.
Kahila Bar-Gal, G
  • Koret School of Veterinary Medicine, The Robert H. Smith Faculty of Agriculture, Food and Environmental Sciences, The Hebrew University of Jerusalem, Rehovot, Israel.

Grant Funding

  • Z01 BC005652 / Intramural NIH HHS

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