title: Murine chromosome 16 telomeric region, homologous with human chromosome 21q22, contains the osmoregulatory Na(+)/myo-inositol cotransporter (SLC5A3) gene.
abstract: The murine Na(+)/myo-inositol cotransporter (SLC5A3) gene (Slc5a3) was cloned, the restriction sites mapped, and the coding region sequenced. Similar to other mammalian counterparts, including human, the gene has a single coding exon, with an open reading frame of 2.2 kb. The predicted protein of 718 amino acids is also highly conserved, compared to other mammalian homologs. Using fluorescence in situ hybridization, Slc5a3 was localized to the telomeric region of mouse chromosome 16, which is syntenic to human chromosome 21q22. An increased Slc5a3 copy number may explain the increased levels of myo-inositol in the brains of trisomy 16 mice and the increased rate of transport of myo-inositol into cultured neurons derived from trisomy 16 mice.
authors.affiliation: Department of Pediatrics, The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-4399, USA.
authors.forename: K E
authors.initials: KE
authors.lastname: McVeigh
authors.forename: J J
authors.initials: JJ
authors.lastname: Mallee
authors.forename: A
authors.initials: A
authors.lastname: Lucente
authors.forename: B L
authors.initials: BL
authors.lastname: Barnoski
authors.forename: S
authors.initials: S
authors.lastname: Wu
authors.forename: G T
authors.initials: GT
authors.lastname: Berry
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002352:Carrier Proteins / Q000235:genetics*; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D003001:Cloning, Molecular; D004314:Down Syndrome / Q000235:genetics; D005091:Exons / Q000235:genetics; D006360:Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008565:Membrane Proteins; D051379:Mice; D008969:Molecular Sequence Data; D016366:Open Reading Frames / Q000235:genetics; D020161:Physical Chromosome Mapping; D016415:Sequence Alignment; D017386:Sequence Homology, Amino Acid; D027981:Symporters; D016615:Telomere / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D006360:Heat-Shock Proteins; D008565:Membrane Proteins; D027981:Symporters; C073884:SLC5A3 protein, human