Transferrin receptor is necessary for development of erythrocytes and the nervous system

Nature Genetics

Volumn 21, Issue 4, 1999, Pages 396-399

  Levy, Joanne E ^a,b   Jin, Ou ^a   Fujiwara, Yuko ^a   Kuo, Frank ^a   Andrews, Nancy C ^a,b  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFERRIN RECEPTOR;

ACIDIFICATION; ANIMAL CELL; ARTICLE; EMBRYO DEVELOPMENT; ERYTHROCYTE MEMBRANE; ERYTHROID CELL; ERYTHROPOIESIS; GENE TARGETING; GENOTYPE; INTESTINE ABSORPTION; IRON ABSORPTION; IRON STORAGE; MOUSE; NERVOUS SYSTEM DEVELOPMENT; NONHUMAN; PRIORITY JOURNAL; RNA ANALYSIS; SOLUBILIZATION;

ANEMIA; ANIMALS; EMBRYO; ERYTHROCYTES; ERYTHROPOIESIS; HOMEOSTASIS; HOMOZYGOTE; INTESTINAL ABSORPTION; IRON; MICE; MICE, INBRED STRAINS; MICE, MUTANT STRAINS; NERVOUS SYSTEM; RECEPTORS, TRANSFERRIN; RETICULOCYTES; TRANSFERRIN;

EID: 0032959574     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/7727     Document Type: Article

References (21)

1. Fleming, M.D. et al. Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. Proc. Natl Acad. Sci. USA 95, 1148-1153 (1998).
2. Huggenvik, J.I. et al. A splicing defect in the mouse transferrin gene leads to congenital atransferrinemia. Blood 74, 482-486 (1989).
3. Bernstein, S.E. Hereditary hypotransferrinemia with hemosiderosis, a murine disorder resembling human atransferrinemia. J. Lab. Clin. Med. 110, 690-705 (1987).
4. Craven, C.M. et al. Tissue distribution and clearance kinetics of non-transferrin-bound iron in the hypotransferrinemic mouse: a rodent model for hemochromatosis. Proc. Natl Acad. Sci. USA 84, 3457-3461 (1987).
5. Dickinson, T.K. & Connor, J.R. Histological analysis of selected brain regions of hypotransferrinemic mice. Brain Res. 635, 169-178 (1994).
6. Inman, R.S. & Wessling-Resnick, M. Characterization of transferrin-independent iron transport in K562 cells. Unique properties provide evidence for multiple pathways of iron uptake. J. Biol. Chem. 268, 3521-8528 (1993).
7. Sturrock, A., Alexander, J., Lamb, J., Craven, C.M. & Kaplan, J. Characterization of a transferrin-independent uptake system for iron in HeLa cells. J. Biol. Chem. 265, 3139-3145 (1990).
8. Gelvan, D., Fibach, E., Meyron-Holtz, E.G. & Konijn, A.M. Ferritin uptake by human erythroid precursors is a regulated iron uptake pathway. Blood 88, 3200-3207 (1996).
9. Andrews, N.C. & Bridges, K.R. in Hematology of Infancy and Childhood (eds Nathan, D.G. & Orkin, S.H.) 423-461 (W.B, Saunders, Philadelphia, 1997).
10. Anderson, G.J., Powell, L.W. & Halliday, J.W. Transferrin receptor distribution and regulation in the rat small intestine. Effect of iron stores and erythropoiesis. Gastroenterology 98, 576-585 (1990).
11. Fleming, M.D. et al. Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nature Genet. 16, 383-386 (1997).
12. Parkkila, S. et al. Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. Proc. Natl Acad. Sci. USA 94, 13198-13202 (1997).
13. Feder, J.N. et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc. Natl Acad. Sci. USA 95, 1472-1477 (1998).
14. Lebron, J.A. et al. Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. Cell 93, 111-123 (1998).
15. Zhou, X.Y. et al. HFE gene knockout produces mouse model of hereditary hemochromatosis. Proc. Natl Acad. Sci. USA 95, 2492-2497 (1998).
16. Nehls, M. et al. Two genetically separable steps in the differentiation of thymic epithelium. Science 272, 886-889 (1996).
17. Laird, P.W. et al. Simplified mammalian DNA isolation procedure. Nucleic Acids Res. 19, 4293 (1991).
18. Fujiwara, Y., Browne, C.P., Cuniff, K., Goff, S.C. & Orkin, S.H. Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1. Proc. Natl Acad. Sci. USA 93, 12355-12358(1996).
19. Wang, L.C. et al. Yolk sac angiogenic defect and intra-embryonic apoptosis in mice lacking the Ets-related factor TEL. EMBO J. 16, 4374-4383 (1997).
20. Joiner, C.H. et al. Increased cation permeability in mutant mouse red blood cells with defective membrane skeletons. Blood 86, 4307-4314 (1995).
21. Torrance, J.D. & Bothwell, T.H. in Methods in Hematolory: Iron (ed. Cook, J.D.) 104-109 (Churchill Livingstone Press, New York, 1980).