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首页> 外文期刊>Genomics >Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice.
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Positional cloning of the Ttc7 gene required for normal iron homeostasis and mutated in hea and fsn anemia mice.

机译：Ttc7基因的位置克隆是正常铁稳态所必需的，并且在hea和fsn贫血小鼠中发生了突变。

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摘要

Genes playing essential roles in iron homeostasis have yet to be identified. We report the discovery of a strong candidate gene affecting iron homeostasis in two allelic anemia mouse mutants: hea (hereditary erythroblastic anemia) and fsn (flaky skin). To clone this novel gene positionally, we established a large backcross, which generated a critical region of seven genes from which only one gene exhibited a mutation in hea mice. This was a deletion in Ttc7 (tetratricopeptide repeat domain 7) extending from exon 1 to exon 14. Correspondingly, the allelic variant fsn mice showed a mutation of an ETn retrotransposon integration into intron 14 of the Ttc7 gene, which results in an abnormal Ttc7 RNA transcript. TTC7 is a member of the TPR repeat protein family known to interact with other proteins, to facilitate transport, and to act as chaperone or scaffolding proteins. We speculate that TTC7 plays an important role in iron transport.
机译：在铁稳态中起重要作用的基因尚未确定。我们报告发现影响两个等位基因贫血小鼠突变体中铁稳态的强大候选基因的发现：hea（遗传性成红细胞性贫血）和fsn（片状皮肤）。为了在位置上克隆该新基因，我们建立了一个大的回交，该交回产生了七个基因的关键区域，在hea小鼠中只有一个基因显示出突变。这是从外显子1延伸到外显子14的Ttc7（四肽重复序列域7）中的缺失。相应地，等位基因变体fsn小鼠显示ETn逆转座子整合到Ttc7基因的内含子14中，导致Ttc7 RNA异常成绩单。 TTC7是TPR重复蛋白家族的成员，已知与其他蛋白相互作用，促进转运并充当伴侣蛋白或支架蛋白。我们推测，TTC7在铁运输中起重要作用。

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