Rebuzzini Paola, Zuccotti Maurizio, Garagna Silvia
Cytogenet Genome Res. 2020;160(6):283-294. doi: 10.1159/000508610. Epub 2020 Jun 24.
X dosage compensation between XX female and XY male mammalian cells is achieved by a process known as X-chromosome inactivation (XCI). XCI initiates early during preimplantation development in female cells, and it is subsequently stably maintained in somatic cells. However, XCI is a reversible process that occurs in vivo in the inner cell mass of the blastocyst, in primordial germ cells or in spermatids during reprogramming. Erasure of transcriptional gene silencing can occur though a mechanism named X-chromosome reactivation (XCR). XCI and XCR have been substantially deciphered in the mouse, whereas they still remain debated in the human. In this review, we summarized the recent advances in the knowledge of X-linked gene dosage compensation during mouse and human preimplantation development and in pluripotent stem cells.
XX雌性和XY雄性哺乳动物细胞之间的X剂量补偿是通过一种称为X染色体失活(XCI)的过程实现的。XCI在雌性细胞植入前发育的早期启动,随后在体细胞中稳定维持。然而,XCI是一个可逆过程,发生在体内囊胚的内细胞团、原始生殖细胞或重编程过程中的精子细胞中。转录基因沉默的消除可通过一种名为X染色体重新激活(XCR)的机制发生。XCI和XCR在小鼠中已基本得到阐明,而在人类中仍存在争议。在这篇综述中,我们总结了小鼠和人类植入前发育以及多能干细胞中X连锁基因剂量补偿知识的最新进展。