Cytoplasmic Ig-domain proteins: cytoskeletal regulators with a role in human disease.

Cytoplasmic Ig-domain proteins: cytoskeletal regulators with a role in human disease.
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DOI:
10.1002/cm.20385
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发表时间:
2009-08
影响因子:
--
通讯作者:
Goicoechea, Silvia M.
Goicoechea, Silvia M.
中科院分区:
其他
文献类型:
--
作者:
Otey, Carol A.;Dixon, Richard;Stack, Christianna;Goicoechea, Silvia M.

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免疫球蛋白结构域存在于多种功能多样的跨膜蛋白中,也存在于少数细胞质蛋白中。后一组的成员通常与肌动蛋白细胞骨架相关,其中大多数直接与肌动蛋白或肌球蛋白结合,或两者兼而有之。最近,对遗传性人类疾病的研究已经确定了五种细胞质Ig结构域蛋白的致病突变:肌球蛋白结合蛋白C、肌联蛋白、肌球蛋白、palladin和myopalladin。连同从培养的细胞和小鼠模型获得的结果,这些临床研究已经产生了新的见解,意想不到的作用,IG域蛋白在机械转导和信号传导到细胞核。在这一领域的一个新兴的主题是,细胞因子相关的IG结构域蛋白质是比细胞的结构元件,并可能已经进化,以满足不同的细胞隔室的不同需求。
Immunoglobulin domains are found in a wide variety of functionally diverse transmembrane proteins, and also in a smaller number of cytoplasmic proteins. Members of this latter group are usually associated with the actin cytoskeleton, and most of them bind directly to either actin or myosin, or both. Recently, studies of inherited human disorders have identified disease-causing mutations in five cytoplasmic Ig-domain proteins: myosin-binding protein C, titin, myotilin, palladin, and myopalladin. Together with results obtained from cultured cells and mouse models, these clinical studies have yielded novel insights into the unexpected roles of Ig domain proteins in mechanotransduction and signaling to the nucleus. An emerging theme in this field is that cytoskeleton-associated Ig domain proteins are more than structural elements of the cell, and may have evolved to fill different needs in different cellular compartments.
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