Dominant Cold-Sensitive Out-Cold Mutants of Drosophila melanogaster Have Novel Missense Mutations in the Voltage-Gated Sodium Channel Gene paralytic

• Published in: Genetics (Austin) Vol. 180; no. 2; pp. 873 - 884
• Main Authors: Lindsay, Helen A, Baines, Richard, ffrench-Constant, Richard, Lilley, Kathryn, Jacobs, Howard T, O'Dell, Kevin M.C
• Format: Journal Article
• Language: English
• Published: United States Genetics Soc America 01.10.2008; Genetics Society of America
• Subjects: Alleles; Amino Acid Sequence; Animals; cold; dominant genes; Drosophila melanogaster; Drosophila melanogaster - genetics; Drosophila melanogaster - physiology; Drosophila Proteins - genetics; Drosophila Proteins - metabolism; Genes; Genes, Insect; Genetic disorders; Genetics; Genotype & phenotype; Investigations; Males; Mass spectrometry; missense mutation; Mitochondrial Proteins - genetics; Mitochondrial Proteins - metabolism; Models, Biological; Molecular Sequence Data; mutants; Mutation; Mutation, Missense; Ocd gene; Out-cold mutants; para gene; Paralyses, Familial Periodic - genetics; Paralyses, Familial Periodic - metabolism; paralysis; Phenotype; Proteins; Reaction kinetics; sodium channels; Sodium Channels - genetics; Sodium Channels - metabolism; Studies; Thermosensing - genetics

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 <...