التفاصيل البيبلوغرافية
| العنوان: |
Escape from X-inactivation in twins exhibits intra- and inter-individual variability across tissues and is heritable |
| المؤلفون: |
Zito, Antonino, Roberts, Amy L., Visconti, Alessia, Rossi, Niccolo’, Andres-Ejarque, Rosa, Nardone, Stefano, El-Sayed Moustafa, Julia S., Falchi, Mario, Small, Kerrin S. |
| المساهمون: |
Bartolomei, Marisa S., MRC, Wellcome Trust, FP7 Ideas: European Research Council, NIHR BioResource, Medical Research Council |
| المصدر: |
PLOS Genetics ; volume 19, issue 2, page e1010556 ; ISSN 1553-7404 |
| بيانات النشر: |
Public Library of Science (PLoS) |
| سنة النشر: |
2023 |
| المجموعة: |
PLOS Publications (via CrossRef) |
| 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 in journal/newspaper |
| اللغة: |
English |
| DOI: |
10.1371/journal.pgen.1010556 |
| الإتاحة: |
https://doi.org/10.1371/journal.pgen.1010556Test |
| حقوق: |
http://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: |
edsbas.8BA622D4 |
| قاعدة البيانات: |
BASE |
