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
Inflammatory serum factors from aortic valve stenosis patients modulate sex differences in valvular myofibroblast activation and osteoblast-like differentiation.
TL;DR: The results implicate serum inflammatory factors as potential AVS biomarkers that also contribute to sexually dimorphic AVS progression by driving VIC myofibroblast activation and/or osteoblast-like differentiation.
Journal ArticleDOI
Disorders of sexual development associated with sex chromosomes: an update
TL;DR: Aguilar et al. as mentioned in this paper present a revisión bibliográfica actualizada de trastornos del desarrollo sexual asociados with cromosomas sexual, específicamente del síndrome de Turner (ST) or Klinefelter (SK).
Dissertation
Construction of molecular tools based on CRISPR/Cas9 system for epigenetic modulation of gene expression
TL;DR: Constructed molecular tools were successfully used for targeted CpG demethylation in promoter regions of two candidate genes, MGAT3 and LAMB1 and it was shown that following dem methylation the MGAT 3 gene changed expression level.
Atlas of Genetics and Cytogenetics in Oncology and Haematology
TL;DR: Ridgway and Almouzni as discussed by the authors defined the components of chromatin and outline the different levels of its organization from the nucleosome to domains in the nucleus, and discussed how variation in the basic constituents of Chromatin can impact on its activity and how stimulatory factors play a critical role in imparting diversity to this dynamic organization.
Posted ContentDOI
Brain X chromosome inactivation is not random and can protect from paternally inherited neurodevelopmental disease
Eric R. Szelenyi,Eric R. Szelenyi,Eric R. Szelenyi,Danielle Fisenne,Danielle Fisenne,Joseph E. Knox,Joseph E. Knox,Julie A. Harris,James Gornet,James Gornet,James Gornet,Ramesh Palaniswamy,Yongsoo Kim,Yongsoo Kim,Kannan Umadevi Venkataraju,Pavel Osten +15 more
TL;DR: In this article, the authors quantify whole-brain XCI at single-cell resolution and discover a preferential inactivation of paternal to maternal X at ∼60:40 ratio, which surprisingly impacts disease penetrance.
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.