NDLI: Confirmation of an Epilepsy Modifier Locus on Mouse Chromosome 11 and Candidate Gene Analysis by RNA-Seq

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Confirmation of an Epilepsy Modifier Locus on Mouse Chromosome 11 and Candidate Gene Analysis by RNA-Seq

Content Provider	PubMed Central
Author	Hawkins, Nicole A. Kearney, Jennifer A.
Abstract	Epilepsy is a neurological disorder affecting approximately 1% of the worldwide population. Mutations in voltage-gated sodium channels have been identified in several monogenic epilepsy syndromes. Over 800 mutations have been identified in the voltage-gated sodium channel genes SCN1A and SCN2A in human epilepsies, including Genetic Epilepsy with Febrile Seizures Plus (GEFS+) and Dravet Syndrome. In GEFS+ families, affected members with the same mutation often display variability in clinical severity of the disease. This suggests that additional genes modify the effect of the primary mutation, resulting in the variable clinical presentation. The Scn2a Q54 transgenic mouse model has an epilepsy phenotype that varies depending on the genetic strain background. Scn2a Q54 mice congenic on the C57BL/6J strain exhibit delayed seizure onset and improved survival compared to (C57BL/6J × SJL/J)F1.Q54 mice. Two modifier loci of Scn2aQ54 seizure susceptibility were mapped and designated Moe1 (modifier of epilepsy) on chromosome 11 and Moe2 on chromosome 19. To confirm Moe1 and refine its position, we generated interval specific congenic (ISC) lines carrying C57BL/6J-derived chromosome 11 alleles on the SJL/J strain and refined the map position to 89–104 Mb. We then used RNA-Seq for candidate analysis in the modifier region. C57BL/6J and SJL/J male and female brain RNAs were sequenced, revealing numerous significant transcriptome differences and coding SNPs. Additional consideration of gene function and expression suggested several strong candidate modifier genes, including two voltage-gated calcium channel subunits, Cacna1g and Cacnb1, and the PAR bZIP transcription factor, Hlf.
Related Links	http://dx.doi.org/10.1111/j.1601-183x.2012.00790.x
Ending Page	460
Page Count	9
Starting Page	452
File Format	PDF
ISSN	16011848
e-ISSN	1601183X
Journal	Genes, Brain, and Behavior
Issue Number	4
Volume Number	11
Language	English
Publisher Date	2012-06-01
Access Restriction	Open
Subject Keyword	Genetics Behavioral Neuroscience Neurology Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Neurology Genetics Behavioral Neuroscience

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