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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene.

Although disorders of iron metabolism are prevalent, iron transport remains poorly understood. To address this problem, we undertook a positional cloning strategy to identify the causative mutation in mice with microcytic anaemia (mk). Homozygous mk/mk mice have microcytic, hypochromic anaemia due to severe defects in intestinal iron absorption and erythroid iron utilization. We report the identification of a strong candidate gene for mk, and suggest that the phenotype is a consequence of a missense mutation in Nramp2 (ref. 5), a previously identified gene of unknown function. Nramp2 is homologous to Nramp1, a gene activa in host defense. If Nramp2 is mk, as the cumulative evidence suggests, our findings have broad implications for the understanding of iron transport and resistance to intracellular pathogens.[1]

References

  1. Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Fleming, M.D., Trenor, C.C., Su, M.A., Foernzler, D., Beier, D.R., Dietrich, W.F., Andrews, N.C. Nat. Genet. (1997) [Pubmed]
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