Journal ArticleDOI
X-chromosome inactivation: counting, choice and initiation
Philip Avner,Edith Heard +1 more
TLDR
In many sexually dimorphic species, a mechanism is required to ensure equivalent levels of gene expression from the sex chromosomes, and in mammals, such dosage compensation is achieved by X-chromosome inactivation, a process that presents a unique medley of biological puzzles.Abstract:
In many sexually dimorphic species, a mechanism is required to ensure equivalent levels of gene expression from the sex chromosomes. In mammals, such dosage compensation is achieved by X-chromosome inactivation, a process that presents a unique medley of biological puzzles: how to silence one but not the other X chromosome in the same nucleus; how to count the number of X's and keep only one active; how to choose which X chromosome is inactivated; and how to establish this silent state rapidly and efficiently during early development. The key to most of these puzzles lies in a unique locus, the X-inactivation centre and a remarkable RNA — Xist — that it encodes.read more
Citations
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Journal ArticleDOI
Restricted chromosomal silencing in nucleolar dominance
TL;DR: The extent of nucleolar dominance-induced silencing in Arabidopsis suecica, the allotetraploid hybrid of A. thaliana andArabidopsis arenosa, is mapped and three protein-coding genes nearest NOR4 on its centromere-proximal side are shown to be transcribed in the hybrid despite the silencing of the adjacent ≈4-Mbp NOR.
Journal ArticleDOI
Epigenetics and Primary Biliary Cirrhosis: a Comprehensive Review and Implications for Autoimmunity
TL;DR: Among epigenetic mechanisms, the instability and skewed gene expression in the X chromosome may account for the female preponderance in PBC and other autoimmune diseases and high-throughput techniques are used to identify epigenetic regulators.
Journal ArticleDOI
Nuclear microenvironment in cancer: Control through liquid-liquid phase separation.
Ryu-Suke Nozawa,Tatsuro Yamamoto,Motoko Takahashi,Hiroaki Tachiwana,Reo Maruyama,Toru Hirota,Noriko Saitoh +6 more
TL;DR: The emerging biophysical principles that govern biomolecular condensate assembly in the nucleus, namely, liquid‐liquid phase separation (LLPS), are reviewed to investigate the nature of the nuclear microenvironment and the possibility that LLPS could represent a new therapeutic target for cancer intervention is noted.
Journal ArticleDOI
From genotype to phenotype: genetics of mammalian long non-coding RNAs in vivo.
Daniel Andergassen,John L. Rinn +1 more
TL;DR: In this article, the authors review strategies to investigate the physiological relevance of lncRNA loci by highlighting studies that have used genetic mouse models to reveal key in vivo roles for lncRNAs, from fertility to brain development.
Journal ArticleDOI
MacroH2A1.2 binds the nuclear protein Spop
TL;DR: In this article, the authors tried to analyze protein-protein interaction with a yeast two-hybrid system to interact with the nonhistone region of mouse macroH2A1.2.
References
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Journal ArticleDOI
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2.
Ruthie E. Amir,Ignatia B. Van den Veyver,Mimi Wan,Charles Q. Tran,Uta Francke,Huda Y. Zoghbi +5 more
TL;DR: This study reports the first disease-causing mutations in RTT and points to abnormal epigenetic regulation as the mechanism underlying the pathogenesis of RTT.
Journal ArticleDOI
Demethylation of the zygotic paternal genome
TL;DR: It is shown that the paternal genome in the mouse is significantly and actively demethylated within 6–8 hours of fertilization, before the onset of DNA replication, whereas the maternal genome is dem methylated after several cleavage divisions.
Journal ArticleDOI
Requirement for Xist in X chromosome inactivation
Graeme D. Penny,Graham F. Kay,Graham F. Kay,Steven A. Sheardown,Sohaila Rastan,Sohaila Rastan,Neil Brockdorff +6 more
TL;DR: Evidence for gene targeting of Xist, the proposed candidate for the X inactivation centre, is provided, and its absolute requirement in the process of X chromosome inactivation is provided.
Journal ArticleDOI
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
Guoliang Xu,Timothy H. Bestor,Déborah Bourc'his,Chih-Lin Hsieh,Niels Tommerup,Merete Bugge,Maj Hultén,Xiaoyan Qu,James J. Russo,E. Viegas-Péquignot +9 more
TL;DR: It is shown that five unrelated ICF patients have mutations in both alleles of the gene that encodes DNA methyltransferase 3B (refs 5, 6), which is the only genetic disorder known to involve constitutive abnormalities of genomic methylation patterns.
Journal ArticleDOI
Tsix , a gene antisense to Xist at the X-inactivation centre
TL;DR: Tsix RNA is a 40-kb RNA originating 15 kb downstream of Xist and transcribed across the Xist locus and has features suggesting a role in regulating the early steps of X inactivation, but not the silencing step.