Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene
Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene
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DOI：
10.1038/ng0897-383
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发表时间：
1997-08-01
期刊：
影响因子：
30.8
通讯作者：
Andrews, NC
中科院分区：
文献类型：
--
作者：
Fleming, MD;Trenor, CC;Andrews, NC
尽管铁代谢紊乱很普遍，但对铁的转运仍知之甚少。为了解决这个问题，我们采用了定位克隆策略来识别小细胞性贫血（mk）小鼠的致病突变。纯合子 mk/mk 小鼠由于肠道铁吸收和红细胞铁利用的严重缺陷而患有小细胞性低色素性贫血(1-4)。我们报告了 mk 的一个强候选基因的鉴定，并表明该表型是 Nramp2 错义突变的结果（参考文献 5），这是一个先前鉴定的功能未知的基因。 Nramp2 与 Nramp1 同源，Nramp1 是一种活跃于宿主防御的基因。如果 Nramp2 是 mk，正如累积的证据表明的那样，我们的发现对于理解铁转运和对细胞内病原体的抵抗力具有广泛的意义。
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(1-4). 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 active 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.