Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

Nature Genetics

Volumn 22, Issue 3, 1999, Pages 300-304

  Labay, Valentina ^a   Raz, Tal ^a   Baron, Dana ^a   Mandel, Hanna ^a   Williams, Hawys ^b   Barrett, Timothy ^c   Szargel, Raymonde ^a   McDonald, Louise ^b   Shalata, Adel ^a   Nosaka, Kazuto ^d   Gregory, Simon ^b   Cohen, Nadine ^a  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^d KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; CONTIG; MEMBRANE PROTEIN; THIAMINE;

AMINO ACID SEQUENCE; ARTICLE; CHROMOSOME 1Q; CONTROLLED STUDY; DIABETES MELLITUS; DNA POLYMORPHISM; GENE MUTATION; GENETIC MARKER; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; MEGALOBLASTIC ANEMIA; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN LOCALIZATION;

AMINO ACID SEQUENCE; ANEMIA, MEGALOBLASTIC; ANIMALS; BASE SEQUENCE; CARRIER PROTEINS; CRICETINAE; DEAFNESS; DIABETES COMPLICATIONS; DIABETES MELLITUS; DNA; DNA PRIMERS; FEMALE; GENES, RECESSIVE; GENETIC MARKERS; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; PHYSICAL CHROMOSOME MAPPING; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME; THIAMINE;

EID: 0032990411     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/10372     Document Type: Article

References (17)

1. Rogers, L.E., Porter, F.S. & Sidbury, J.B. Jr Thiamine-responsive megaloblastic anemia. J. Pediatr. 74, 494-504 (1969).
2. Mandel, H., Berant, M., Hazani, A. & Naveh, Y. Thiamine-dependent beriberi in the thiamine-responsive anemia syndrome. N. Engl. J. Med. 311, 836-338 (1984).
3. Neufeld, E.J. et al. Localization of the gene for thiamine-responsive megaloblastic anemia syndrome on the long arm of chromosome 1 by homozygosity mapping. Am. J. Hum. Genet. 61, 1335-1341 (1997).
4. Raz, T. et al. Refine mapping of the gene for thiamine-responsive megaloblastic anemia syndrome in a 4cM region and evidence for genetic homogeneity. Hum. Genet. 103, 455-461 (1998).
5. Banikazemi, M. et al. Localization of the thiamine-responsive megaloblastic anemia syndrome locus to a 1.4-cM region of 1q23. Mol. Genet. Metab. 66, 193-198 (1999).
6. Rindi, G. et al. Further studies on erythrocyte thiamine transport and phosphorylation in seven patients with thiamine-responsive megaloblastic anemia. J. Inher. Metab. Dis. 17, 667-677 (1994).
7. Stagg, A.R. et al. Defective high-affinity transporter leads to cell death in TRMA syndrome fibroblasts. J. Clin. Invest. 103, 723-729 (1999).
8. Wong, S.C., Proefke, S.A., Bhushan, A. & Matherly, L.H. Isolation of human cDNAs that restore methotrexate sensitivity and reduced folate carrier activity in methotrexate transport-defective Chinese hamster ovary cells. J. Biol. Chem. 270, 17468-17475 (1995).
9. Prasad, P.D., Ramamoorthy, S., Leibach, F.H. & Ganapathy, V. Molecular cloning of the human placental folate transporter. Biochem. Biophys. Res. Commun. 206, 681-687 (1995).
10. Altschul, S.F., Gish, W., Miller, E.W. & Lipman, D.J. Basic local alignment search tool. J. Mol. Biol. 215, 403-410 (1990).
11. Kozak, M. Interpreting cDNA sequences: some insights from studies on translation. Mamm. Genome 7, 563-574 (1996).
12. Fleming, J.C. et al. The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter Nature Genet. 22, 305-308 (1999).
13. Hanson, R.L. et al. An autosomal genomic scan for loci linked to type II diabetes mellitus and body-mass index in Pima Indians. Am. J. Hum. Genet. 63, 1130-1138 (1998).
14. Concannon, P. et al. A second-generation screen of the human genome for susceptibility to insulin-dependent diabetes mellitus. Nature Genet. 19, 292-296 (1998).
15. Dib, C. et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380, 152-154 (1996).
16. Gyapay, G., Ginot, F., Nguyen, S., Vignal, A. & Weissenbach, J. Genotyping procedures in linkage mapping. Methods 9, 91-97 (1996).
17. Boguski, M.S., Lowe, T.M.J. & Tolstoshev, C.M. dbEST-database for "expressed sequence tags". Nature Genet. 4, 332-333 (1993).