title: Slc19a2: cloning and characterization of the murine thiamin transporter cDNA and genomic sequence, the orthologue of the human TRMA gene.
abstract: Recently, our group and others cloned the TRMA disease gene, SLC19A2, which encodes a thiamin transporter. Here, we report the cloning and characterization of the full-length cDNA and genomic sequences of mouse Slc19a2. The Slc19a2 cDNA contained a 1494-bp open-reading frame, and had 5'- and 3'-untranslated regions of 189 and 1857 bp, respectively. A putative GC-rich, TATA-less promoter was identified in genomic sequence directly upstream of the identified 5' end. The Slc19a2 gene spanned 16.3 kb and was organized into six exons, a gene structure conserved with the human orthologue. The predicted Slc19a2 protein, like SLC19A2, was predicted to have 12 transmembrane domains and shared a number of other conserved sequence motifs with the human orthologue, including one potential N-glycosylation site (N(63)) and several potential phosphorylation sites. Comparison of the Slc19a2 amino acid sequence with those of the other known SLC19A solute carriers highlighted interesting patterns of conservation and divergence in various domains, allowing insight into potential structure-function relationships. The identification of the mouse Slc19a2 cDNA and genomic sequences will facilitate the generation of an animal model of TRMA, permitting future studies of disease pathogenesis.
authors.affiliation: Department of Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA.
authors.forename: K
authors.initials: K
authors.lastname: Oishi
authors.forename: T
authors.initials: T
authors.lastname: Hirai
authors.forename: B D
authors.initials: BD
authors.lastname: Gelb
authors.forename: G A
authors.initials: GA
authors.lastname: Diaz
mesh_terms: D000595:Amino Acid Sequence; D000749:Anemia, Megaloblastic / Q000188:drug therapy / Q000235:genetics; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D002352:Carrier Proteins / Q000235:genetics*; D003001:Cloning, Molecular; D004247:DNA / Q000737:chemistry / Q000235:genetics; D018076:DNA, Complementary / Q000737:chemistry / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D015870:Gene Expression; D005796:Genes / Q000235:genetics; D007438:Introns; D008297:Male; D026901:Membrane Transport Proteins; D051379:Mice; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D016415:Sequence Alignment; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid; D013831:Thiamine / Q000627:therapeutic use; D014018:Tissue Distribution
chemical_list: D002352:Carrier Proteins; D018076:DNA, Complementary; D026901:Membrane Transport Proteins; D012333:RNA, Messenger; C492292:Slc19a2 protein, mouse; D004247:DNA; D013831:Thiamine