Mapping of the human genes (SLC23A2 and SLC23A1) coding for vitamin C transporters 1 and 2 (SVCT1 and SVCT2) to 5q23 and 20p12, respectively
Open Access
- 1 September 2000
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 37 (9) , 20e-20
- https://doi.org/10.1136/jmg.37.9.e20
Abstract
Editor—Ascorbate or vitamin C (VC) is an essential reducing agent and antioxidant that participates in a variety of metabolic processes.1 Unlike rodents and other animals, humans depend on dietary intake of VC to meet their daily requirement.1 2 VC intracellular accumulation is mediated through two distinct pathways. In one pathway, vitamin C is transported as such by high affinity sodium dependent carriers. In a second pathway, oxidised vitamin C (dehydroascorbic acid) is transported on glucose transporters GLUT1 and GLUT3.3 4 Recently the coding sequences of the human Na+ dependent VC transporters types 1 and 2, hSVCT1 and hSVCT2, products of the SLC23A2 and SLC23A1 genes, respectively, were identified.5-7 Both genes were first identified as anonymous expression sequence tags (ESTs).8 9Subsequently, and based on homology, human SLC23A2 and SLC23A1 were identified as nucleobase transporters YSPL3 and YSPL2 , respectively.10 Their full length coding sequences, expression profile, and function were then identified.5-7 The EST location of YSPL3 and the physical location of the SLC23A2 gene on chromosome 5 were also recently confirmed.6 8-10 The known enzymatic roles of VC in collagen hydroxylation, carnitine biosynthesis, formation of the catecholamine norepinephrine, and as an inhibitor of oxidation make both SLC23A2 and SLC23A1 candidate genes for a variety of human disorders.1 2 These may include monogenic diseases affecting the skeleton, fat metabolism, and the endocrine glands, as well as polygenic conditions, such as osteoporosis, obesity, hypertension, and aging. Thus, the knowledge of the precise genetic and …Keywords
This publication has 18 references indexed in Scilit:
- Human Vitamin C (l-Ascorbic Acid) Transporter SVCT1Biochemical and Biophysical Research Communications, 2000
- Human Na+-dependent vitamin C transporter 1 (hSVCT1): primary structure, functional characteristics and evidence for a non-functional splice variantBiochimica et Biophysica Acta (BBA) - Biomembranes, 1999
- Cloning and functional characterization of the human sodium‐dependent vitamin C transporters hSVCT1 and hSVCT2FEBS Letters, 1999
- Specificity of Ascorbate Analogs for Ascorbate TransportJournal of Biological Chemistry, 1999
- The Human Vitamin D Receptor Gene (VDR) Is Localized to Region 12cen-q12 by Fluorescent In Situ Hybridization and Radiation Hybrid Mapping: Genetic and Physical VDR MapJournal of Bone and Mineral Research, 1999
- Criteria and Recommendations for Vitamin C IntakeJAMA, 1999
- Molecular characterization of two novel transporters from human and mouse kidney and from LLC-PK1 cells reveals a novel conserved family that is homologous to bacterial and Aspergillus nucleobase transportersBiochimica et Biophysica Acta (BBA) - Gene Structure and Expression, 1998
- Human CYP11B2 (Aldosterone Synthase) Maps To Chromosome 8q24.3Journal of Clinical Endocrinology & Metabolism, 1998
- Prediction of the Coding Sequences of Unidentified Human Genes. VI. The Coding Sequences of 80 New Genes (KIAA0201-KIAA0280) Deduced by Analysis of cDNA Clones from Cell Line KG-1 and BrainDNA Research, 1996
- Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA libraryNature Genetics, 1993