[abstract] IDENTIFICATION OF CANDIDATE GENES THAT CONTROL DIFFERENCES IN HPNS SEIZURE SUSCEPTIBILITY.

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[abstract] IDENTIFICATION OF CANDIDATE GENES THAT CONTROL DIFFERENCES IN HPNS SEIZURE SUSCEPTIBILITY.

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Title: [abstract] IDENTIFICATION OF CANDIDATE GENES THAT CONTROL DIFFERENCES IN HPNS SEIZURE SUSCEPTIBILITY.
Author: McCall, RD; Frierson, D; Blum, JE
Abstract: BACKGROUND: Inherited differences in susceptibility to the HPNS seizure elicited by fast compression (167 msw min-1) in heliox are controlled by a quantitative trait locus (QTL) on chromosome (Chr.) 17 of the mouse. Here we report an attempt to characterize the QTL. MATERIALS AND METHODS: A physical map of the relevant ~15 Mb Chr. 17 region comprising seizure phenotype data from a BXD recombinant inbred strain panel was constructed at the GeneNetwork’s website www.genenetwork.org. Because the seizure is at root a CNS phenomenon, congruence of gene expression was investigated for genes in the region of the HPNS QTL and genes in the brains of BXD mice in the same chromosomal region. This was done using the following mRNA data bases representing gene activity in the brains of mice from the BXD panel: UCHSC Whole Brain, HBP/Rosen Striatum, Hippocampus Consortium, GE-NIAAA Cerebellum, and Eye M430V2 RMA. RESULTS: The HPNS QTL contains one broad peak and two sharply defined ones. Peak activity of brain genes shows close correspondence, in one or more brain regions, to the peaks of the HPNS QTL in the following way: The first, sharp HPNS peak is at the peak activity of glutamate receptor, metabotropic 4 (Grm4); the broad HPNS peak (~10Mb) contains peak activities of vacuolar protein sorting 52 (Vps52), ring finger protein 1 (Ring1), flotillin 1 (Flot1), all linked to the major histocompatibility H2 “loci” in region A (H2-Aa, -Ab1), Cb4, D (H2-DMb1), K (H2-K1, -e2, -e6), and T (H2-T17, -T23, -T24); in the saddle between the HPNS broad peak and the second sharp peak lies the significantly expressed methylmalonyl-coenzyme A mutase (Mut); and exactly matching the sharp peak is ectonucleotide pyrophosphatase 5 (Enpp5). CONCLUSIONS: The congruent expression of the genes listed are all highly statistically significant. They are, therefore, candidate genes for producing HPNS seizure phenotypes.
Description: Abstract of the Undersea and Hyperbaric Medical Society, Inc. Annual Scientific Meeting held June 14-16, 2007. Ritz-Carlton Kapalua Maui, Hawaii (http:www.uhms.org)
URI: http://archive.rubicon-foundation.org/5168
Date: 2007

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  • UHMS Meeting Abstracts
    This is a collection of the published abstracts from the Undersea and Hyperbaric Medical Society (UHMS) annual meetings.

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