Male infertility and thiamine-dependent erythroid hypoplasia in mice lacking thiamine transporter Slc19a2

Molecular Genetics and Metabolism

Volumn 80, Issue 1-2, 2003, Pages 234-241

  Fleming, Judith C ^a   Tartaglini, Elena ^a   Kawatsuji, Ryosuke ^a   Yao, David ^a   Fujiwara, Yuko ^a,b   Bednarski, Jeffrey J ^a   Fleming, Mark D ^a   Neufeld, Ellis J ^a  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

Erythroid hypoplasia; Reticulocytopenia; Slc19a2; Spermatogenesis; Thiamine transport; TRMA; Vitamin B1

Indexed keywords

CARRIER PROTEIN; THIAMINE; THIAMINE TRANSPORTER; UNCLASSIFIED DRUG;

ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY WEIGHT; BONE MARROW; CELL MATURATION; CHROMATIN; CONTROLLED STUDY; EMBRYO; EPIDIDYMIS; ERYTHROCYTE HYPOPLASIA; ERYTHROID PRECURSOR CELL; FEMALE; GENE DISRUPTION; GERM CELL; HYPOPLASIA; KNOCKOUT MOUSE; MALE; MALE FERTILITY; MALE INFERTILITY; MEGALOBLASTIC ANEMIA; MEIOSIS; NONHUMAN; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; RETICULOCYTE; SIDEROBLASTIC ANEMIA; SPERMATOCYTE; SPERMATOGENESIS; TESTIS; THIAMINE RESPONSIVE MEGALOBLASTIC ANEMIA WITH DIABETES AND DEAFNESS; WILD TYPE;

EID: 0142026073     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1096-7192(03)00141-0     Document Type: Article

References (22)

1. Denny-Brown D. The neurological aspects of thiamine deficiency. Fed. Proc. 17(Suppl. 2):1958;35-39.
2. Diaz G.A., Banikazemi M., Oishi K., Desnick R.J., Gelb B.D. Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblstic anaemia syndrome. Nat. Genet. 22:1999;309-312.
3. Dutta B., Huang W., Molero M., Kekuda R., Leibach F.H., Devoe L.D., Ganapathy V., Prasad P.D. Cloning of the human thiamine transporter, a member of the folate transporter family. J. Biol. Chem. 274:1999;31925-31929.
4. Eudy J., Spiegelstein O., Barber R., Wlodarczyk B., Talbot J., Finnell R. Identification and characterization of the human and mouse SLC19A3 gene: a novel member of the reduced folate family of micronutrient transporter genes. Mol. Genet. Metab. 71:2000;581-590.
5. Fleming J.C., Steinkamp M.P., Kawatsuji R., Tartaglini E., Pinkus J.L., Pinkus G.S., Fleming M.D., Neufeld E.J. Characterization of a murine high-affinity thiamine transporter, Slc19a2. Mol. Genet. Metab. 74:2001;273-280.
6. Fleming J.C., Tartaglini E., Steinkamp M.P., Schorderet D.F., Cohen N., Neufeld E.J. The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter. Nat. Genet. 22:1999;305-308.
7. Kashiwabara S., Noguchi J., Zhuang T., Ohmura K., Honda A., Sugiura S., Miyamoto K., Takahashi S., Inoue K., Ogura A., Baba T. Regulation of spermatogenesis by testis-specific, cytoplasmic poly(A) polymerase TPAP. Science. 298:2002;1999-2002.
8. Krishnamurthy H., Babu P.S., Morales C.R., Sairam M.R. Delay in sexual maturity of the follicle-stimulating hormone receptor knockout male mouse. Biol. Reprod. 65:2001;522-531.
9. Labay V., Raz T., Baron D., Mandel H., Williams H., Barrett T., Szargel R., McDonald L., Shalata A., Nosaka K., Gregory S., Cohen N. Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness. Nat. Genet. 22:1999;300-304.
10. Laforenza U., Orsenigo M.N., Rindi G. A thiamine/H+ antiport mechanism for thiamine entry into brush border membrane vesicles from rat small intestine. J. Membr. Biol. 161:1998;151-161.
11. Langlais P., Hall T. Thiamine deficiency-induced disruptions in the diurnal rhythm and regulation of body temperature in the rat. Metab. Brain Dis. 13:1999;225-239.
12. McFarland D.J. Mouse phenotype modulates the behavioral effects of acute thiamine deficiency. Physiol. Behav. 35:1985;597-601.
13. Narisawa S., Hecht N.B., Goldberg E., Boatright K.M., Reed J.C., Millan J.L. Testis-specific cytochrome c-null mice produce functional sperm but undergo early testicular atrophy. Mol. Cell. Biol. 22:2002;5554-5562.
14. Neufeld E.J., Fleming J.C., Tartaglini E., Steinkamp M.P. Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport. Blood Cells Mol. Dis. 27:2001;135-138.
15. Oishi K., Hofmann S., Diaz G.A., Brown T., Manwani D., Ng L., Young R., Vlassara H., Ioannou Y.A., Forrest D., Gelb B.D. Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice. Hum. Mol. Genet. 11:2002;2951-2960.
16. Rajgopal A., Edmondnson A., Goldman I.D., Zhao R. SLC19A3 encodes a second thiamine transporter ThTr2. Biochim. Biophys. Acta. 1537:2001;175-178.
17. Rindi G., Casirola D., Poggi V., De Vizia B., Patrini C., Laforenza U. Thiamine transport by erythrocytes and ghosts in thiamine-responsive megaloblastic anemia. J. Inherit. Metab. Dis. 15:1992;231-242.
18. Rindi G., Laforenza U. Thiamine intestinal transport and related issues: recent aspects. Proc. Soc. Exp. Biol. Med. 224:2000;246-255.
19. Ruggiu M., Speed R., Taggart M., McKay S.J., Kilanowski F., Saunders P., Dorin J., Cooke H.J. The mouse Dazla gene encodes a cytoplasmic protein essential for gametogenesis. Nature. 389:1997;73-77.
20. Socolovsky M., Nam H., Fleming M.D., Haase V.H., Brugnara C., Lodish H.F. Ineffective erythropoiesis in Stat5a(-/-)5b(-/-) mice due to decreased survival of early erythroblasts. Blood. 98:2001;3261-3273.
21. Stagg A.R., Fleming J.C., Baker M.A., Sakamoto M., Cohen N., Neufeld E.J. Defective high-affinity thiamine transporter leads to cell death in thiamine-responsive megaloblastic anemia syndrome fibroblasts. J. Clin. Invest. 103:1999;723-729.
22. Wong R.W., Kwan R.W., Mak P.H., Mak K.K., Sham M.H., Chan S.Y. Overexpression of epidermal growth factor induced hypospermatogenesis in transgenic mice. J. Biol. Chem. 275:2000;18297-18301.