Structural maintenance of chromosome complexes and bone development: the beginning of a wonderful relationship?
Structural maintenance of chromosome complexes and bone development: the beginning of a wonderful relationship?
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DOI：
10.1038/bonekey.2013.122
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发表时间：
2013-08-07
期刊：
影响因子：
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通讯作者：
Onn, Itay
中科院分区：
文献类型：
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作者：
Cohen-Zinder, Miri;Zinder-Cohen, Miri;Onn, Itay
骨骼发育取决于环境、营养和激素因素。然而，基因及其相关分子通路的有序和定时激活对于健康骨骼的生长和发育至关重要。基因的正确表达依赖于顺式和反式调节元件。其中，染色质超微结构的难以捉摸的作用才刚刚开始得到重视。染色质高级结构的变化正在影响基因对内在和环境信号的反应。凝聚素和凝聚素是染色体结构维持蛋白复合物家族的成员，它们通过分子间或分子内连接染色质的不同区域来介导染色质的高级结构。近年来，SMCs在基因表达调控和发育过程中发挥重要作用，而cohesin或condensin的功能异常会影响人类的健康。然而，关于SMC复合物在骨发育中的具体作用及其对骨健康的可能影响知之甚少。在这里，我们回顾的研究表明，SMC和骨发育之间的密切联系，以及一个合理的影响，直接或间接，对骨骼健康。我们描述了与具有独特骨表型的SMC相关的遗传综合征，并确定了SMC与骨相关分子通路之间的联系。SMC和骨发育之间的关系的未来研究将揭示SMC复合物的细胞和分子作用的新认识，并提供新的见解在骨的生长和发育过程。
Bone development depends on environmental, nutritional and hormonal factors. Yet, an ordered and timed activation of genes and their associated molecular pathways are central for the growth and development of healthy bones. The correct expression of genes depends on both cis- and trans-regulatory elements. Of these, the elusive role of chromatin ultrastructure is just beginning to become appreciated. Changes in the higher-order structure of chromatin are affecting the expression of genes in response to intrinsic and environmental signals. Cohesin and condensin are members of the structural maintenance of chromosome (SMC) family of protein complexes, which mediate higher-order chromatin structure by tethering distinct regions of chromatin either inter- or intra-molecularly. In recent years, SMCs had been identified for their function in the regulation of gene expression and developmental processes, whereas malfunction of cohesin or condensin has an impact on human health. However, little is known about the specific roles of SMC complexes in bone development and their possible effect on bone health. Here, we review studies that suggest an intimate link between SMCs and bone development, as well as a plausible effect, direct or indirect, on the bone health. We describe genetic syndromes associated with SMCs with distinctive bone phenotypes and identify links between SMCs and bone-related molecular pathways. Future studies of the relationship between SMCs and bone development will reveal new understandings of both the cellular and molecular roles of SMC complexes and provide new insights into the growth and developmental processes in the bone.