Conversion of random X-inactivation to imprinted X-inactivation by maternal PRC2 [PDF]
eLife, 2019 Imprinted X-inactivation silences genes exclusively on the paternally-inherited X-chromosome and is a paradigm of transgenerational epigenetic inheritance in mammals. Here, we test the role of maternal vs.
Clair Harris +7 more
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Renal X-inactivation in female individuals with X-linked Alport syndrome primarily determined by age [PDF]
Frontiers in Medicine, 2022 X-linked Alport syndrome (AS) caused by hemizygous disease-causing variants in COL4A5 primarily affects males. Females with a heterozygous state show a diverse phenotypic spectrum ranging from microscopic hematuria to end-stage kidney disease (ESKD) and ...
Roman Günthner +29 more
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A whole-organism landscape of X-inactivation in humans [PDF]
eLifeAs females are mosaic for X-inactivation, direct determination of X-linked allelic expression in bulk tissues is typically unfeasible. Using females that are non-mosaic (completely skewed) for X-inactivation (nmXCI) has proven a powerful and natural ...
Bjorn Gylemo +2 more
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A Primary Role for the Tsix lncRNA in Maintaining Random X-Chromosome Inactivation [PDF]
Cell Reports, 2015 Differentiating pluripotent epiblast cells in eutherians undergo random X-inactivation, which equalizes X-linked gene expression between the sexes by silencing one of the two X-chromosomes in females. Tsix RNA is believed to orchestrate the initiation of
Srimonta Gayen +4 more
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CTCF-mediated insulation and chromatin environment modulate Car5b escape from X inactivation [PDF]
BMC BiologyBackground Genes that escape X-chromosome inactivation (XCI) in female somatic cells vary in number and levels of escape among mammalian species and tissues, potentially contributing to species- and tissue-specific sex differences.
He Fang +12 more
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Data in Brief, 2015 X chromosome inactivation (XCI) is a female-specific mechanism that serves to balance gene dosage between the sexes whereby one X chromosome in females is inactivated during early development.
Joel B. Berletch +6 more
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X-chromosome genetic association test accounting for X-inactivation, skewed X-inactivation, and escape from X-inactivation. [PDF]
Genetic epidemiology, 2014 X-chromosome inactivation (XCI) is the process in which one of the two copies of the X-chromosome in females is randomly inactivated to achieve the dosage compensation of X-linked genes between males and females. That is, 50% of the cells have one allele inactive and the other 50% of the cells have the other allele inactive. However, studies have shown
Jian, Wang, Robert, Yu, Sanjay, Shete
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Normal postnatal outcome in an r(X) mosaic male fetus with retained XIST gene
Journal of Pediatric and Neonatal Individualized Medicine, 2020 We report the case of a pregnant woman who underwent prenatal diagnosis by chorionic villi sampling for increased risk of trisomy 21 due to advanced age and abnormal results of the first trimester combined screening test.
Maura Mingoia +3 more
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Evidence of influence of genomic DNA sequence on human X chromosome inactivation. [PDF]
PLoS Computational Biology, 2006 A significant number of human X-linked genes escape X chromosome inactivation and are thus expressed from both the active and inactive X chromosomes. The basis for escape from inactivation and the potential role of the X chromosome primary DNA sequence ...
Zhong Wang +3 more
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Sex-differential selection and the evolution of X inactivation strategies. [PDF]
PLoS Genetics, 2013 X inactivation--the transcriptional silencing of one X chromosome copy per female somatic cell--is universal among therian mammals, yet the choice of which X to silence exhibits considerable variation among species.
Tim Connallon, Andrew G Clark
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