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      Genetic causes of haemophilia in women and girls

      1 , 1

      Haemophilia

      Wiley

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          Gene action in the X-chromosome of the mouse (Mus musculus L.).

          MARY LYON (1961)
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            Eutherian mammals use diverse strategies to initiate X-chromosome inactivation during development.

            X-chromosome inactivation (XCI) in female mammals allows dosage compensation for X-linked gene products between the sexes. The developmental regulation of this process has been extensively investigated in mice, where the X chromosome of paternal origin (Xp) is silenced during early embryogenesis owing to imprinted expression of the regulatory RNA, Xist (X-inactive specific transcript). Paternal XCI is reversed in the inner cell mass of the blastocyst and random XCI subsequently occurs in epiblast cells. Here we show that other eutherian mammals have very different strategies for initiating XCI. In rabbits and humans, the Xist homologue is not subject to imprinting and XCI begins later than in mice. Furthermore, Xist is upregulated on both X chromosomes in a high proportion of rabbit and human embryo cells, even in the inner cell mass. In rabbits, this triggers XCI on both X chromosomes in some cells. In humans, chromosome-wide XCI has not initiated even by the blastocyst stage, despite the upregulation of XIST. The choice of which X chromosome will finally become inactive thus occurs downstream of Xist upregulation in both rabbits and humans, unlike in mice. Our study demonstrates the remarkable diversity in XCI regulation and highlights differences between mammals in their requirement for dosage compensation during early embryogenesis.
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              Regulation of X-chromosome inactivation by the X-inactivation centre.

              X-chromosome inactivation (XCI) ensures dosage compensation in mammals and is a paradigm for allele-specific gene expression on a chromosome-wide scale. Important insights have been made into the developmental dynamics of this process. Recent studies have identified several cis- and trans-acting factors that regulate the initiation of XCI via the X-inactivation centre. Such studies have shed light on the relationship between XCI and pluripotency. They have also revealed the existence of dosage-dependent activators that trigger XCI when more than one X chromosome is present, as well as possible mechanisms underlying the monoallelic regulation of this process. The recent discovery of the plasticity of the inactive state during early development, or during cloning, and induced pluripotency have also contributed to the X chromosome becoming a gold standard in reprogramming studies.
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                Author and article information

                Contributors
                (View ORCID Profile)
                (View ORCID Profile)
                Journal
                Haemophilia
                Haemophilia
                Wiley
                1351-8216
                1365-2516
                March 2021
                December 13 2020
                March 2021
                : 27
                : 2
                Affiliations
                [1 ]Division of Blood DisordersNational Center on Birth Defects and Developmental DisabilitiesCenters for Disease Control and Prevention Atlanta GA USA
                Article
                10.1111/hae.14186
                b9d62669-4444-4c9d-87c2-9c0ec36fc0bd
                © 2021

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