Nucleocytoplasmic connections and deafness.
Nucleocytoplasmic connections and deafness.
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DOI：
10.1172/jci67454
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发表时间：
2013-02
期刊：
影响因子：
--
通讯作者：
H. Worman;N. Segil
中科院分区：
文献类型：
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作者：
H. Worman;N. Segil
核骨架和细胞骨架（LINC）复合物的连接体将核纤层连接到细胞骨架，部分是为了帮助核定位。编码 LINC 复合体和核纤层成分的基因突变会导致一系列人类疾病。在本期 JCI 中，Horn 等人。报告称，编码 LINC 复合蛋白 nesprin-4 的基因 SYNE4 突变会导致进行性高频听力损失。此外，在缺乏nesprin-4和Sun1（另一种LINC复合体成分）的小鼠中，耳蜗的外毛细胞在发育过程中正常形成，但在出生后几周内死亡。这些结果将不适当的核定位与柯蒂氏器中外毛细胞的死亡特别联系起来，并最终导致耳聋。
The linker of nucleoskeleton and cytoskeleton (LINC) complex connects the nuclear lamina to the cytoskeleton, in part to aid in nuclear positioning. Mutations in genes encoding LINC complex and lamina components cause a range of human diseases. In this issue of the JCI, Horn et al. report that mutations in the gene SYNE4 encoding the LINC complex protein nesprin-4 lead to progressive high-frequency hearing loss. Further, in mice deficient in nesprin-4 and Sun1, another LINC complex component, outer hair cells of the cochlea form normally during development, but die in the early postnatal weeks. These results link improper nuclear positioning specifically to the death of outer hair cells in the organ of Corti and ultimately to deafness.