Format

Send to

Choose Destination
See comment in PubMed Commons below
Nat Genet. 1997 Aug;16(4):383-6.

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

Author information

1
Division of Hematology/Oncology, Children's Hospital, Boston, Massachusetts, USA.

Abstract

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.

PMID:
9241278
DOI:
10.1038/ng0897-383
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Support Center