Iron metabolism mutant hbd mice have a deletion in Sec15l1, which has homology to a yeast gene for vesicle docking |
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Authors: | White Robert A Boydston Leigh A Brookshier Terri R McNulty Steven G Nsumu Ndona N Brewer Brandon P Blackmore Krista |
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Affiliation: | Department of Medical Research, Children's Mercy Hospitals and Clinics, and Department of Pediatrics-Genetics, University of Missouri at Kansas City School of Medicine, Kansas City, MO 64108, USA. rwhite@cmh.edu |
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Abstract: | Defects in iron absorption and utilization lead to iron deficiency and anemia. While iron transport by transferrin receptor-mediated endocytosis is well understood, it is not completely clear how iron is transported from the endosome to the mitochondria where heme is synthesized. We undertook a positional cloning project to identify the causative mutation for the hemoglobin-deficit (hbd) mouse mutant, which suffers from a microcytic, hypochromic anemia apparently due to defective iron transport in the endocytosis cycle. As shown by previous studies, reticulocyte iron accumulation in homozygous hbd/hbd mice is deficient despite normal binding of transferrin to its receptor and normal transferrin uptake in the cell. We have identified a strong candidate gene for hbd, Sec15l1, a homologue to yeast SEC15, which encodes a key protein in vesicle docking. The hbd mice have an exon deletion in Sec15l1, which is the first known mutation of a SEC gene homologue in mammals. |
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Keywords: | Iron metabolism Mouse mutant Anemia |
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