Gene regulation in time and space during X-chromosome inactivation

A Loda, S Collombet, E Heard - Nature Reviews Molecular Cell Biology, 2022 - nature.com
X-chromosome inactivation (XCI) is the epigenetic mechanism that ensures X-linked dosage
compensation between cells of females (XX karyotype) and males (XY). XCI is essential for …

The molecular and nuclear dynamics of X-chromosome inactivation

F Dossin, E Heard - Cold Spring Harbor Perspectives in …, 2022 - cshperspectives.cshlp.org
In female eutherian mammals, dosage compensation of X-linked gene expression is
achieved during development through transcriptional silencing of one of the two X …

GATA transcription factors drive initial Xist upregulation after fertilization through direct activation of long-range enhancers

L Ravid Lustig, A Sampath Kumar, T Schwämmle… - Nature Cell …, 2023 - nature.com
X-chromosome inactivation (XCI) balances gene expression between the sexes in female
mammals. Shortly after fertilization, upregulation of Xist RNA from one X chromosome …

[HTML][HTML] Functional diversification of SRSF protein kinase to control ubiquitin-dependent neurodevelopmental signaling

F Bustos, A Segarra-Fas, G Nardocci, A Cassidy… - Developmental cell, 2020 - cell.com
Conserved protein kinases with core cellular functions have been frequently redeployed
during metazoan evolution to regulate specialized developmental processes. The Ser/Arg …

[HTML][HTML] Distal and proximal cis-regulatory elements sense X chromosome dosage and developmental state at the Xist locus

RAF Gjaltema, T Schwämmle, P Kautz, M Robson… - Molecular Cell, 2022 - cell.com
Developmental genes such as Xist, which initiates X chromosome inactivation, are
controlled by complex cis-regulatory landscapes, which decode multiple signals to establish …

Roles of the Rlim–Rex1 axis during X chromosome inactivation in mice

F Wang, A Chander, Y Yoon… - Proceedings of the …, 2023 - National Acad Sciences
In female mice, the gene dosage from X chromosomes is adjusted by a process called X
chromosome inactivation (XCI) that occurs in two steps. An imprinted form of XCI (iXCI) that …

[HTML][HTML] Regulatory principles and mechanisms governing the onset of random X-chromosome inactivation

T Schwämmle, EG Schulz - Current Opinion in Genetics & Development, 2023 - Elsevier
Highlights•Complex regulatory interactions ensure female-specific monoallelic Xist
expression.•Stochastic upregulation combined with a negative feedback can explain the Xist …

Neurodevelopmental disorders (NDD) caused by genomic alterations of the ubiquitin-proteasome system (UPS): the possible contribution of immune dysregulation to …

F Ebstein, S Küry, JJ Papendorf… - Frontiers in Molecular …, 2021 - frontiersin.org
Over thirty years have passed since the first description of ubiquitin-positive structures in the
brain of patients suffering from Alzheimer's disease. Meanwhile, the intracellular …

Integrated analysis of Xist upregulation and X-chromosome inactivation with single-cell and single-allele resolution

G Pacini, I Dunkel, N Mages, V Mutzel… - Nature …, 2021 - nature.com
To ensure dosage compensation between the sexes, one randomly chosen X chromosome
is silenced in each female cell in the process of X-chromosome inactivation (XCI). XCI is …

Enhanced chromatin accessibility contributes to X chromosome dosage compensation in mammals

I Talon, A Janiszewski, B Theeuwes, T Lefevre, J Song… - Genome Biology, 2021 - Springer
Background Precise gene dosage of the X chromosomes is critical for normal development
and cellular function. In mice, XX female somatic cells show transcriptional X chromosome …