The human X-inactivation centre is not required for maintenance of X-chromosome inactivation

Abstract

X-CHROMOSOME inactivation occurs early in mammalian female development to achieve dosage compensation with males1. Although it is widely accepted that this inactivation requires the presence in cis of the X-inactivation centre (XIC)2–5, it is not known whether the XIC is required for the initiation, promulgation or maintenance of X inactivation6,7. The XIST gene, which is localized within the XIC interval on both the human and mouse X chromosomes, is constitutively expressed from inactive X chromosomes8–10, suggesting a possible role in the maintenance of X inactivation. To address whether the presence of the XIC, including the XIST gene, is continuously required for the maintenance of X-chromosome inactivation, we have analysed the transcriptional activity of a number of X-linked genes in mouse/human somatic cell hybrids retaining an intact human inactive X chromosome or derivatives of the inactive X chromosome lacking the XIC. Genes subject to X inactivation remain transcriptionally silent despite the loss of the XIC, demonstrating that the presence of the XIC is not required for the maintenance of X inactivation in somatic cells.

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Brown, C., Willard, H. The human X-inactivation centre is not required for maintenance of X-chromosome inactivation. Nature 368, 154–156 (1994) doi:10.1038/368154a0

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