Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm.

Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm.
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DOI:
10.1016/j.tig.2017.04.001
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发表时间:
2017-07
期刊:
Trends in genetics : TIG
影响因子:
--
通讯作者:
McCoy RC
McCoy RC
中科院分区:
其他
文献类型:
--
作者:
McCoy RC

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与减数分裂中的错误一起,合子后细胞分裂中的有丝分裂错误导致人类胚胎普遍存在非整倍体。然而,对于这些错误的起源或它们的适应性后果,我们所知相对较少。快速的技术进步正在帮助缩小这一差距,揭示了导致有丝分裂错误的多种分子机制。这些包括细胞周期检查点改变,中心体畸变,染色单体内聚失败,反映了癌症生物学的发现。最近的研究对有丝分裂错误是异常的这一观点提出了挑战,强调嵌合对适应性的影响取决于其范围和严重程度。根据这些发现,讨论了各种筛选方法的技术和哲学局限性,以及未来研究的途径。
Along with errors in meiosis, mitotic errors during post-zygotic cell division contribute to pervasive aneuploidy in human embryos. Relatively little is known, however, about the genesis of these errors or their fitness consequences. Rapid technological advances are helping close this gap, revealing diverse molecular mechanisms contributing to mitotic error. These include altered cell cycle checkpoints, aberrations of the centrosome, and failed chromatid cohesion, mirroring findings from cancer biology. Recent studies are challenging the idea that mitotic error is abnormal, emphasizing that the fitness impacts of mosaicism depend on its scope and severity. In light of these findings, technical and philosophical limitations of various screening approaches are discussed, along with avenues for future research.