Isolation and characterization of a novel human putative anemia-related gene homologous to mouse sideroflexin

Biochemical Genetics

Volumn 41, Issue 3-4, 2003, Pages 119-125

  Ye, Xin ^a   Xu, Jian ^a   Cheng, Chao ^a   Yin, Gang ^a   Zeng, Li ^a   Ji, Chaoneng ^a   Gu, Shaohua ^a   Xie, Yi ^a   Mao, Yumin ^a  

^a FUDAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; SIDEROFLEXIN; SIDEROFLEXIN 2; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOMAL LOCALIZATION; FETUS; GENE ISOLATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; MOLECULAR CLONING; NUCLEOTIDE SEQUENCE; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; ANEMIA; ANIMALS; BASE SEQUENCE; CATION TRANSPORT PROTEINS; CLONING, MOLECULAR; DNA, COMPLEMENTARY; GENE EXPRESSION; HUMANS; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 0038634878     PISSN: 00062928     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1022026001114     Document Type: Article

References (15)

1. Aisen, P., Enns, C., and Wessling-Resnick, M. (2001). Chemistry and biology of eukaryotic iron metabolism. Int. J. Biochem. Cell B 33:940-959.
2. Azzi, A., Glerum, M., Koller, R., Mertens, W., and Spycher, S. (1993). The mitochondrial tricarboxylate carrier. J. Bioenerg. Biomembr 25(5):515-524.
3. Ceccarelli, D., Kozlov, A. V., Gallesi, D., Tomasi, A., Giovannini, F., and Masini, A. (1997). The role of desferrioxamine chelatable iron in rat liver mitochondrial dysfunction in chronic dietary iron overload. Bioelectroch. Bioener. 42:169-174.
4. Cotter, P. D., Willard, H. F., Gorski, J. L., and Bishop, D. F. (1992). Assignment of human erythroid delta-aminolevulinate synthase (ALAS2) to a distal subregion of band Xp11.21 by PCR analysis of somatic cell hybrids containing X: Autosome translocation. Genomics 13:211-212.
5. Cox, T. C., Bottomley, S. S., Wiley, J. N., Bawden, M. J., Matthews, C. S., and May, B. K. (1998). X-linked pyridoxine-responsive sideroblasitc anemia due to a Thr388-to-Ser substitutation in erythroid 5-aminolevulinate synthase. N. Engl. J. Med. 330:675-679.
6. Fleming, M. D., Campagna, D. R., Haslett, J. N., Temor, C. C., III, and Andrews, N. C. (2001). A mutation in a mitochondrial transmembrane protein is responsible for the pleiotropic hematological and skeletal phenotype offlexex-tail (f/f) mice. Gene. Dev. 15:652-657.
7. Gattermann, N. (1999). From sideroblastic anemia to the role of mitochondrial DNA mutations in myelodysplastic syndromes. Leukemia Res. 24:141-151.
8. Griffiths, W., and Cox, T. (2000). Haemochromatosis: Novel gene discovery and the molecular pathophysiology of iron metabolism. Hum. Mol. Genet. 16:2377-2382.
9. Harris, J. W., Dnish, E. H., Brittenham, G. M., and Mclaren, C. E. (1993). Pyridoxine responsive hereditary sideroblastic erythropoiesis and iron overload: Two microcutic subpopulations in the affected male, one normocytic and one microcytic subpopulation in the obligate female carrier. Am. J. Hematol. 42(4):400-401.
10. Keyhani, M., Giuliani, D., Giuliani, E. R., and Morse, B. S. (1974). Erythropoiesis in pyridoxin deficiency mice. Pro. Soc. Exp. Biol. Med. 146:275-278.
11. Manabe, Y., Seto, S., Furusho, K., and Aoki, Y. (1982). A study of a female with congenital sideroblastic anemia. Am. J. Hematol. 12:63-67.
12. Mesenholler, M., and Matthews, E. K. (2000). A key role for the mitochondrial benzodiazepine receptor in cellular photosensitisation with δ-aminolaevulinic acid. Eur. J. Pharmacol. 406: 171-180.
13. Ponka, P. (1999). Pathogenesis of sideroblastic formation. Leukemia Res. 23:s47-s50.
14. Roy, C. N., and Andrews, N. C. (2001). Recent advances in disorders of iron metabolism: Mutations, mechanisms and modifiers. Hum. Mol. Genet. 20:2181-2186.
15. William, J. H., Griffiths, A. L., and Cox, M. (1999). Inherited disorders of iron storage and transport. Mol. Med. Today. 5:431-438.