دورية أكاديمية
Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable.
| العنوان: | Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable. |
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| المؤلفون: | Antonino Zito, Amy L Roberts, Alessia Visconti, Niccolo' Rossi, Rosa Andres-Ejarque, Stefano Nardone, Julia S El-Sayed Moustafa, Mario Falchi, Kerrin S Small |
| المصدر: | PLoS Genetics, Vol 19, Iss 2, p e1010556 (2023) |
| بيانات النشر: | Public Library of Science (PLoS), 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Genetics |
| مصطلحات موضوعية: | Genetics, QH426-470 |
| الوصف: | X-chromosome inactivation (XCI) silences one X in female cells to balance sex-differences in X-dosage. A subset of X-linked genes escape XCI, but the extent to which this phenomenon occurs and how it varies across tissues and in a population is as yet unclear. To characterize incidence and variability of escape across individuals and tissues, we conducted a transcriptomic study of escape in adipose, skin, lymphoblastoid cell lines and immune cells in 248 healthy individuals exhibiting skewed XCI. We quantify XCI escape from a linear model of genes' allelic fold-change and XIST-based degree of XCI skewing. We identify 62 genes, including 19 lncRNAs, with previously unknown patterns of escape. We find a range of tissue-specificity, with 11% of genes escaping XCI constitutively across tissues and 23% demonstrating tissue-restricted escape, including cell type-specific escape across immune cells of the same individual. We also detect substantial inter-individual variability in escape. Monozygotic twins share more similar escape than dizygotic twins, indicating that genetic factors may underlie inter-individual differences in escape. However, discordant escape also occurs within monozygotic co-twins, suggesting environmental factors also influence escape. Altogether, these data indicate that XCI escape is an under-appreciated source of transcriptional differences, and an intricate phenotype impacting variable trait expressivity in females. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1553-7390 1553-7404 |
| العلاقة: | https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test |
| DOI: | 10.1371/journal.pgen.1010556 |
| الوصول الحر: | https://doaj.org/article/c3e0845ba9914d3a8b2f1d204f9deff8Test |
| رقم الانضمام: | edsdoj.3e0845ba9914d3a8b2f1d204f9deff8 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 15537390 15537404 |
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| DOI: | 10.1371/journal.pgen.1010556 |