Genetic basis of cohesinopathies.
Genetic basis of cohesinopathies.
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DOI：
10.2147/tacg.s34457
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发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Barbero JL
中科院分区：
文献类型：
--
作者：
Barbero JL
黏连蛋白是一种环状多功能蛋白质复合物，它是在寻找细胞分裂过程中染色体分离过程中保持姐妹染色单体在一起的分子时发现的。在过去的十年中，大量的结果也表明，在细胞生命周期的其他关键事件，包括DNA复制，异染色质形成，DNA双链断裂修复和基因表达的控制，需要的cohesin复合物。粘附素环的动力学由许多辅助和调节蛋白调节，称为粘附素辅因子。失去功能的凝聚素复合体是不相容的生活，然而，基因编码的凝聚素亚基和/或凝聚素辅因子，这对染色体分离的影响很小或无效的突变，代表了一类新认识的人类遗传疾病称为凝聚素病。许多遗传、生物化学和临床方法，以及重要的动物模型，可以帮助我们确定这些人类疾病的潜在机制。
Cohesin is a ring-form multifunctional protein complex, which was discovered during a search for molecules that keep sister chromatids together during segregation of chromosomes during cell division. In the past decade, a large number of results have also demonstrated a need for the cohesin complex in other crucial events in the life cycle of the cell, including DNA duplication, heterochromatin formation, DNA double-strand break repair, and control of gene expression. The dynamics of the cohesin ring are modulated by a number of accessory and regulatory proteins, known as cohesin cofactors. Loss of function of the cohesin complex is incompatible with life; however, mutations in the genes encoding for cohesin subunits and/or cohesin cofactors, which have very little or a null effect on chromosome segregation, represent a newly recognized class of human genetic disorders known as cohesinopathies. A number of genetic, biochemical, and clinical approaches, and importantly, animal models, can help us to determine the underlying mechanisms for these human diseases.