HPNS seizure risk: a role for the Golgi-associated retrograde protein complex?

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HPNS seizure risk: a role for the Golgi-associated retrograde protein complex?

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dc.contributor.author McCall, RD en_US
dc.date.accessioned 2012-03-07T21:30:04Z
dc.date.available 2012-03-07T21:30:04Z
dc.date.issued 2011 en_US
dc.identifier.citation Undersea Hyperb Med. 2011 Jan-Feb;38(1):3-9. en_US
dc.identifier.isbn 1066-2936 en_US
dc.identifier.other 21384758 en_US
dc.identifier.uri http://archive.rubicon-foundation.org/9739
dc.description Undersea and Hyperbaric Medicine : Journal of the Undersea and Hyperbaric Medical Society, Inc. en_US
dc.description.abstract Previous attempts to characterize the genetic contribution to differential risk of developing the HPNS seizure in a mouse model system are extended to additional data and an analytical mode that incorporates the set of linked resources for systems genetics in the GeneNetwork project. A quantitative trait locus (QTL) affecting HPNS seizure phenotype was mapped to a approximately 6 megabase (Mb) gene-rich region of Chr 17 based on the degree of expression covariation among genes in the region of the QTL and genes in the brains of BXD recombinant inbred mice in the same chromosomal region. Use of GeneNetwork's WebQTL analytical modules revealed that among greater than 220 positional candidate genes, vacuolar protein sorting gene 52 (Vps52) has highest priority. It appears that a single nearly null mutation in a distal region of Vps52 3'UTR (untranslated region) defined by a DNA probe set is associated with greater than 60% of the seizure risk difference between the high- and low-risk strains DBA/2 and C57BL/6, respectively. Based on the known contribution of the elements of the GARP complex--Vps52, -53 and -54--to motoneuron abnormalities, mutation-depleted Vps52 may be implicated in HPNS seizure risk variation in the mouse and, by gene homology, also with human VPS52. en_US
dc.language.iso en en_US
dc.publisher Undersea and Hyperbaric Medical Society, Inc. en_US
dc.subject HPNS en_US
dc.subject.mesh Animals en_US
dc.subject.mesh Chromosomes, Human, Pair 17/genetics en_US
dc.subject.mesh Crosses, Genetic en_US
dc.subject.mesh Diving/physiology en_US
dc.subject.mesh Genetic Predisposition to Disease/genetics en_US
dc.subject.mesh Genome-Wide Association Study/methods en_US
dc.subject.mesh Helium en_US
dc.subject.mesh High Pressure Neurological Syndrome/*genetics en_US
dc.subject.mesh Humans en_US
dc.subject.mesh Major Histocompatibility Complex/*genetics en_US
dc.subject.mesh Mice en_US
dc.subject.mesh Mice, Inbred C57BL/genetics en_US
dc.subject.mesh Mice, Inbred DBA/genetics en_US
dc.subject.mesh Mutation/*genetics en_US
dc.subject.mesh Oxygen en_US
dc.subject.mesh Polymorphism, Single Nucleotide en_US
dc.subject.mesh Proteins/*genetics en_US
dc.subject.mesh Quantitative Trait Loci/*genetics en_US
dc.subject.mesh risk en_US
dc.subject.mesh Seizures/*genetics en_US
dc.subject.mesh Vesicular Transport Proteins/genetics en_US
dc.title HPNS seizure risk: a role for the Golgi-associated retrograde protein complex? en_US
dc.type Article en_US

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