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DNA Research 2000 7(6):339-345; doi:10.1093/dnares/7.6.339
© 2000 by Kazusa DNA Research Institute
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Cloning and Genomic Organization of the Mouse Gene Slc23a1 Encoding a Vitamin C Transporter

Suzana Gispert1, Amalia Dutra1, Andrew Lieberman2, Dan Friedlich3 and Robert L. Nussbaum1,*

1Genetic Disease Research Branch, National Human Genome Research Institute
2Neurogenetics Branch, National Institute of Neurological Disease and Stroke
3Howard Hughes Medical Institute, NIH Bethesda, Maryland 20892, USA

* To whom correspondence should be addressed. Genetic Disease Research Branch, Building 49, Room 4A72 NIH, 49 Convent Drive, Bethesda, MD 20892-4472, USA. Tel. +1-301-402-2039, Fax. +1-301-402-2170, E-mail: rlnuss{at}nhgri.nih.gov

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 Ctransp orter 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 BAClibrary identified BAC 53L21 whichcontains 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


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