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首页> 外文期刊>Molecular and Cellular Biology >Nuclear Factor I X Deficiency Causes Brain Malformation and Severe Skeletal Defects
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Nuclear Factor I X Deficiency Causes Brain Malformation and Severe Skeletal Defects

机译：核因子I X缺乏会导致脑畸形和严重的骨骼缺损

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The transcription factor family of nuclear factor I (NFI) proteins is encoded by four closely related genes: Nfia, Nfib, Nfic, and Nfix. A potential role for NFI proteins in regulating developmental processes has been implicated by their specific expression pattern during embryonic development and by analysis of NFI-deficient mice. It was shown that loss of NFIA results in hydrocephalus and agenesis of the corpus callosum and that NFIB deficiency leads to neurological defects and to severe lung hypoplasia, whereas Nfic knockout mice exhibit specific tooth defects. Here we report the knockout analysis of the fourth and last member of this gene family, Nfix. Loss of NFIX is postnatally lethal and leads to hydrocephalus and to a partial agenesis of the corpus callosum. Furthermore, NFIX-deficient mice develop a deformation of the spine, which is due to a delay in ossification of vertebral bodies and a progressive degeneration of intervertebral disks. Impaired endochondral ossification and decreased mineralization were also observed in femoral sections of Nfix?/? mice. Consistent with the defects in bone ossification we could show that the expression level of tetranectin, a plasminogen-binding protein involved in mineralization, is specifically downregulated in bones of NFIX-deficient mice.
机译：核因子I（NFI）蛋白的转录因子家族由四个紧密相关的基因编码： Nfia ， Nfib ， Nfic 和 Nfix 。 NFI蛋白在胚胎发育过程中的特定表达方式以及对NFI缺陷小鼠的分析都暗示了NFI蛋白在调控发育过程中的潜在作用。结果表明，NFIA的缺失会导致脑积水和and体发育不全，而NFIBIB缺乏会导致神经系统缺损和严重的肺发育不良，而 Nfic 剔除小鼠表现出特定的牙齿缺损。在这里，我们报告了该基因家族的第四个和最后一个成员 Nfix 的敲除分析。 NFIX的丧失在出生后具有致命性，并导致脑积水和call体的部分发育不全。此外，NFIX缺陷型小鼠会产生脊柱变形，这是由于椎体骨化延迟和椎间盘逐渐退化所致。在 Nfix ？ / ？小鼠的股骨切片中也观察到软骨内骨化受损和矿化减少。与骨骼骨化的缺陷相一致，我们可以证明四联蛋白（一种参与矿化的纤溶酶原结合蛋白）的表达水平在NFIX缺陷小鼠的骨骼中被特异性下调。

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