title: Cloning and genomic organization of the mouse gene slc23a1 encoding a vitamin C transporter.
abstract: Vitamin C is known to exist in particularly high concentrations in brain tissue, and its free radical scavenging function is thought to represent a major antioxidative defense system. We have cloned, sequenced and analyzed the genomic structure of a mouse sodium-dependent vitamin C transporter gene, Slc23a1 (also known as Svct2). The mouse Slc23a1 cDNA is 6.4 kb long and was cloned directly from a mouse brain RNA preparation. Hybridization screening of a mouse genomic BAC library identified BAC 53L21 which contains at least the entire coding sequence of the mouse Slc23a1 gene. Determination of the exon-intron structure of the gene revealed 17 exons ranging from 58 bp to 4407 bp extending over 50 kb of the mouse genome, with the translation start codon located in exon 3. Its 1944 nucleotide open reading frame encodes a polypeptide of 647 aa, which is highly similar to rat and human orthologs. The mouse gene was assigned to chromosome 2qG2 by fluorescence in situ hybridization analysis. Expression of this gene was demonstrated in a wide range of tissues, with especially high levels in brain. Neurodegenerative diseases with an established role for oxidative stress in the cytoplasm may therefore be conditions of SLC23A1 dysfunction. Key words: gene structure; Vitamin C; transporter; oxidative stress
authors.affiliation: Genetic Disease Research Branch, National Human Genome Research Institute, and Howard Hughes Medical Institute, NIH, Bethesda, Maryland 20892-4472, USA.
authors.forename: S
authors.initials: S
authors.lastname: Gispert
authors.forename: A
authors.initials: A
authors.lastname: Dutra
authors.forename: A
authors.initials: A
authors.lastname: Lieberman
authors.forename: D
authors.initials: D
authors.lastname: Friedlich
authors.forename: R L
authors.initials: RL
authors.lastname: Nussbaum
mesh_terms: D000818:Animals; D001205:Ascorbic Acid / Q000378:metabolism*; D001483:Base Sequence; D015152:Blotting, Northern; D001921:Brain / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics*; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D003593:Cytoplasm / Q000378:metabolism; D018076:DNA, Complementary / Q000378:metabolism; D005091:Exons; D015723:Gene Library; D016678:Genome; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007438:Introns; D051379:Mice; D008957:Models, Genetic; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D016366:Open Reading Frames; D029363:Organic Anion Transporters, Sodium-Dependent; D018384:Oxidative Stress; D010802:Phylogeny; D051381:Rats; D060347:Sodium-Coupled Vitamin C Transporters; D027981:Symporters; D014018:Tissue Distribution
chemical_list: D002352:Carrier Proteins; D018076:DNA, Complementary; D029363:Organic Anion Transporters, Sodium-Dependent; C555162:SLC23A1 protein, human; C555163:SLC23A2 protein, human; C555166:Slc23a1 protein, rat; C555165:Slc23a2 protein, mouse; C555167:Slc23a2 protein, rat; D060347:Sodium-Coupled Vitamin C Transporters; D027981:Symporters; D001205:Ascorbic Acid