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• W2891373867 abstract "Abstract X-chromosome inactivation (XCI) is an essential epigenetic process in female mammalian development. Although cell-based studies suggest the potential importance of the Ftx long non-protein-coding RNA (lncRNA) in XCI, its physiological roles in vivo remain unclear. Here we show that targeted deletion of X-linked mouse Ftx lncRNA causes eye abnormalities resembling human microphthalmia in a subset of females but rarely in males. This inheritance pattern cannot be explained by X-linked dominant or recessive inheritance, where males typically show a more severe phenotype than females. In Ftx -deficient mice, some X-linked genes remain active on the inactive X, suggesting that defects in random XCI in somatic cells cause a substantially female-specific phenotype. The expression level of Xist , a master regulator of XCI, is diminished in females homozygous or heterozygous for Ftx deficiency. We propose that loss-of- Ftx lncRNA abolishes gene silencing on the inactive X chromosome, leading to a female microphthalmia-like phenotype." @default.
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• W2891373867 date "2018-09-20" @default.
• W2891373867 modified "2023-10-02" @default.
• W2891373867 title "Female mice lacking Ftx lncRNA exhibit impaired X-chromosome inactivation and a microphthalmia-like phenotype" @default.
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• W2891373867 doi "https://doi.org/10.1038/s41467-018-06327-6" @default.
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