{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["9(1)"],"submitter":["Hosoi Y"],"pubmed_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 "],"journal":["Nature communications"],"pagination":["3829"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6148026"],"repository":["biostudies-literature"],"pubmed_title":["Female mice lacking Ftx lncRNA exhibit impaired X-chromosome inactivation and a microphthalmia-like phenotype."],"pmcid":["PMC6148026"],"pubmed_authors":["Kohda T","Shiura H","Sado T","Kobayashi S","Ishino F","Hasuwa H","Hosoi Y","Soma M","Abe K"],"additional_accession":[]},"is_claimable":false,"name":"Female mice lacking Ftx lncRNA exhibit impaired X-chromosome inactivation and a microphthalmia-like phenotype.","description":"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 ","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018 Sep","modification":"2026-05-01T18:24:00.952Z","creation":"2019-03-27T00:05:08Z"},"accession":"S-EPMC6148026","cross_references":{"pubmed":["30237402"],"doi":["10.1038/s41467-018-06327-6"]}}