Mammalian Developmental Epigenetics Group, Genetics and Developmental Biology Unit, Institut Curie, CNRS UMR3215, INSERM U934, 75248 Paris, France.
Mammalian Developmental Epigenetics Group, Genetics and Developmental Biology Unit, Institut Curie, CNRS UMR3215, INSERM U934, 75248 Paris, France.
FEBS Lett. 2014 Aug 1;588(15):2514-22. doi: 10.1016/j.febslet.2014.06.023. Epub 2014 Jun 14.
X-chromosome inactivation represents an epigenetics paradigm and a powerful model system of facultative heterochromatin formation triggered by a non-coding RNA, Xist, during development. Once established, the inactive state of the Xi is highly stable in somatic cells, thanks to a combination of chromatin associated proteins, DNA methylation and nuclear organization. However, sporadic reactivation of X-linked genes has been reported during ageing and in transformed cells and disappearance of the Barr body is frequently observed in cancer cells. In this review we summarise current knowledge on the epigenetic changes that accompany X inactivation and discuss the extent to which the inactive X chromosome may be epigenetically or genetically perturbed in breast cancer.
X 染色体失活代表了一种表观遗传学范例，也是一种强大的可诱导异染色质形成的模型系统，由非编码 RNA Xist 在发育过程中触发。一旦建立，Xi 的失活状态在体细胞中高度稳定，这要归功于一组与染色质相关的蛋白、DNA 甲基化和核组织。然而，在衰老过程中和转化细胞中已经报道了 X 连锁基因的偶然重新激活，并且在癌细胞中经常观察到巴氏小体的消失。在这篇综述中，我们总结了伴随 X 染色体失活的表观遗传变化的现有知识，并讨论了在乳腺癌中，失活 X 染色体在多大程度上可能受到表观遗传或遗传的干扰。
