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

Publication ,  Journal Article
Fleming, MD; Trenor, CC; Su, MA; Foernzler, D; Beier, DR; Dietrich, WF; Andrews, NC
Published in: Nature genetics
August 1997

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.

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Published In

Nature genetics

DOI

EISSN

1546-1718

ISSN

1061-4036

Publication Date

August 1997

Volume

16

Issue

4

Start / End Page

383 / 386

Related Subject Headings

  • Sequence Homology, Amino Acid
  • Mutation
  • Molecular Sequence Data
  • Microsatellite Repeats
  • Mice, Inbred DBA
  • Mice, Inbred C57BL
  • Mice, Inbred C3H
  • Mice
  • Membrane Proteins
  • Male
 

Citation

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Fleming, M. D., Trenor, C. C., Su, M. A., Foernzler, D., Beier, D. R., Dietrich, W. F., & Andrews, N. C. (1997). Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nature Genetics, 16(4), 383–386. https://doi.org/10.1038/ng0897-383
Fleming, M. D., C. C. Trenor, M. A. Su, D. Foernzler, D. R. Beier, W. F. Dietrich, and N. C. Andrews. “Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene.Nature Genetics 16, no. 4 (August 1997): 383–86. https://doi.org/10.1038/ng0897-383.
Fleming MD, Trenor CC, Su MA, Foernzler D, Beier DR, Dietrich WF, et al. Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nature genetics. 1997 Aug;16(4):383–6.
Fleming, M. D., et al. “Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene.Nature Genetics, vol. 16, no. 4, Aug. 1997, pp. 383–86. Epmc, doi:10.1038/ng0897-383.
Fleming MD, Trenor CC, Su MA, Foernzler D, Beier DR, Dietrich WF, Andrews NC. Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene. Nature genetics. 1997 Aug;16(4):383–386.

Published In

Nature genetics

DOI

EISSN

1546-1718

ISSN

1061-4036

Publication Date

August 1997

Volume

16

Issue

4

Start / End Page

383 / 386

Related Subject Headings

  • Sequence Homology, Amino Acid
  • Mutation
  • Molecular Sequence Data
  • Microsatellite Repeats
  • Mice, Inbred DBA
  • Mice, Inbred C57BL
  • Mice, Inbred C3H
  • Mice
  • Membrane Proteins
  • Male