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Title: Putative causal variant on Vlgr1 for the epileptic phenotype in the model wistar audiogenic rat.
Authors: Damasceno, Samara
Fonseca, Pablo Augusto de Souza
Cruz, Izinara Rosse da
Moraes, Márcio Flávio Dutra
Oliveira, José Antônio Cortes de
Cairasco, Norberto Garcia
Godard, Ana Lúcia Brunialti
Keywords: Seizure predisposition
Molecular marker
Issue Date: 2021
Citation: DAMASCENO, S. et al. Putative causal variant on Vlgr1 for the epileptic phenotype in the model wistar audiogenic rat. Frontiers in Neurology, v. 12, 2021. Disponível em: <>. Acesso em: 11 out. 2022.
Abstract: Wistar Audiogenic Rat is an epilepsy model whose animals are predisposed to develop seizures induced by acoustic stimulation. This model was developed by selective reproduction and presents a consistent genetic profile due to the several generations of inbreeding. In this study, we performed an analysis of WAR RNA-Seq data, aiming identified at genetic variants that may be involved in the epileptic phenotype. Seventeen thousand eighty-five predicted variants were identified as unique to the WAR model, of which 15,915 variants are SNPs and 1,170 INDELs. We filter the predicted variants by pre-established criteria and selected five for validation by Sanger sequencing. The genetic variant c.14198T>C in the Vlgr1 gene was confirmed in the WAR model. Vlgr1 encodes an adhesion receptor that is involved in the myelination process, in the development of stereocilia of the inner ear, and was already associated with the audiogenic seizures presented by the mice Frings. The transcriptional quantification of Vlgr1 revealed the downregulation this gene in the corpus quadrigeminum of WAR, and the protein modeling predicted that the mutated residue alters the structure of a domain of the VLGR1 receptor. We believe that Vlgr1 gene may be related to the predisposition of WAR to seizures and suggest the mutation Vlgr1/Q4695R as putative causal variant, and the first molecular marker of the WAR strain.
ISSN: 1664-2295
metadata.dc.rights.license: This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practic. Fonte: o PDF do artigo.
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