Iron homeostasis: Insights from genetics and animal models

被引:333
作者
Andrews, NC [1 ]
机构
[1] Harvard Univ, Childrens Hosp, Sch Med,Howard Hughes Med Inst, Dept Pediat,Div Hematol Oncol, Boston, MA 02115 USA
关键词
D O I
10.1038/35042073
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Disorders that perturb iron balance are among the most prevalent human diseases, but until recently iron transport remained poorly understood. Over the past five years, genetic studies of patients with inherited iron homeostasis disorders and the analysts of mutant mice, rats and zebrafish have helped to identify several important iron-transport proteins. With information being mined from the genomes of four species, the study of iron metabolism has benefited enormously from positional-cloning efforts. Complementing the genomic strategy, targeted mutagenesis in mice has produced new models of human iron diseases. The animal models described in this review offer valuable tools for investigating iron homeostasis in vivo.
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页码:208 / 217
页数:10
相关论文
共 80 条
[1]   A novel mammalian iron-regulated protein involved in intracellular iron metabolism [J].
Abboud, S ;
Haile, DJ .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2000, 275 (26) :19906-19912
[2]   Commentary on: Ferrokinetics in the syndrome of familial hypoferremic microcytic anemia with iron malabsorption [J].
Andrews, NC ;
Fleming, MD .
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY, 1999, 21 (05) :353-355
[3]   Experimental hemochromatosis due to MHC class IHFE deficiency:: Immune status and iron metabolism [J].
Bahram, S ;
Gilfillan, S ;
Kühn, LC ;
Moret, R ;
Schulze, JB ;
Lebeau, A ;
Schümann, K .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1999, 96 (23) :13312-13317
[4]  
BANNERMAN RM, 1976, FED PROC, V35, P2281
[5]   Crystal structure of the hereditary haemochromatosis protein HFE complexed with transferrin receptor [J].
Bennett, MJ ;
Lebrón, JA ;
Bjorkman, PJ .
NATURE, 2000, 403 (6765) :46-53
[6]   Iron overload in patients with sideroblastic anaemia is not related to the presence of the haemochromatosis Cys282Tyr and His63Asp mutations [J].
Beris, P ;
Samii, K ;
Darbellay, R ;
Zoumbos, N ;
Tsoplou, P ;
Kourakli, A ;
Preud'homme, C ;
Fenaux, P .
BRITISH JOURNAL OF HAEMATOLOGY, 1999, 104 (01) :97-99
[7]  
BERNSTEIN SE, 1987, J LAB CLIN MED, V110, P690
[8]  
BOWEN BJ, 1987, BLOOD, V70, P38
[9]   MALABSORPTION AND DEFECTIVE UTILIZATION OF IRON IN 3 SIBLINGS [J].
BUCHANAN, GR ;
SHEEHAN, RG .
JOURNAL OF PEDIATRICS, 1981, 98 (05) :723-728
[10]   The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22 [J].
Camaschella, C ;
Roetto, A ;
Cali, A ;
De Gobbi, M ;
Garozzo, G ;
Carella, M ;
Majorano, N ;
Totaro, A ;
Gasparini, P .
NATURE GENETICS, 2000, 25 (01) :14-15