ArticleGenetics2008
The dominant cold-sensitive Out-cold mutants of Drosophila melanogaster have novel missense mutations in the voltage-gated sodium channel gene paralytic.
Article in Genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 21 citations in OpenAlex.
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- Preclinical Animal Models for Dravet Syndrome: Seizure Phenotypes, Comorbidities and Drug Screening.Frontiers in pharmacology · 2018Review
- Insights into DDT Resistance from theGenetics · 2017Article
- Preparing for Winter: The Transcriptomic Response Associated with Different Day Lengths in Drosophila montana.G3 (Bethesda, Md.) · 2016Article
- Model systems for studying cellular mechanisms of SCN1A-related epilepsy.Journal of neurophysiology · 2016Review
- Disruption of Endocytosis with the Dynamin Mutant shibirets1 Suppresses Seizures in Drosophila.Genetics · 2015Article
- Molecular biology of insect sodium channels and pyrethroid resistance.Insect biochemistry and molecular biology · 2014Article
- Mutation in the RmβAOR gene is associated with amitraz resistance in the cattle tick Rhipicephalus microplus.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- A knock-in model of human epilepsy in Drosophila reveals a novel cellular mechanism associated with heat-induced seizure.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2012Article
- Footprints of positive selection associated with a mutation (N1575Y) in the voltage-gated sodium channel of Anopheles gambiae.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Old gene duplication facilitates origin and diversification of an innovative communication system--twice.Proceedings of the National Academy of Sciences of the United States of America · 2010Article
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Authors and funding
6 authors at 5 institutions in 2 countries.
Funding
Abstract
Here we report the molecular characterization of Out-cold (Ocd) mutants of Drosophila melanogaster, which produce a dominant, X-linked, cold-sensitive paralytic phenotype. From its initial 1.5-Mb cytological location within 13F1-16A2, P-element and SNP mapping reduced the Ocd critical region to <100 kb and to six candidate genes: hangover, CG9947, CG4420, eIF2a, Rbp2, and paralytic (para). Complementation testing with para null mutations strongly suggests Ocd and para are allelic, as does gene rescue of Ocd semilethality with a wild-type para transgene. Pesticide resistance and electrophysiological phenotypes of Ocd mutants support this conclusion. The para gene encodes a voltage-gated sodium channel. Sequencing the Ocd lines revealed mutations within highly conserved regions of the para coding sequence, in the transmembrane segment S6 of domain III (I1545M and T1551I), and in the linker between domains III and IV (G1571R), the location of the channel inactivation gate. The G1571R mutation is of particular interest as mutations of the orthologous residue (G1306) in the human skeletal muscle sodium channel gene SCN4A are associated with cases of periodic paralysis and myotonia, including the human cold-sensitive disorder paramyotonia congenita. The mechanisms by which sodium channel mutations cause cold sensitivity are not well understood. Therefore, in the absence of suitable vertebrate models, Ocd provides a system in which genetic, molecular, physiological, and behavioral tools can be exploited to determine mechanisms underlying sodium channel periodic paralyses.
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