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
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Reference BookDOI
Epigenetics in Biology and Medicine
TL;DR: An Introduction to Epigenetics, M.F. EstellerEpigenetics and Cancer: DNA Methylation, S. Ropero and M. Garcia-Manero Epigenetic Drugs: Histone Deacetylase Inhibitors, R. Martin-Subero and R. Siebert.
Journal ArticleDOI
An N-Ethyl-N-Nitrosourea Mutagenesis Screen for Epigenetic Mutations in the Mouse
Ivona Percec,Ivona Percec,Joanne L. Thorvaldsen,Robert M. Plenge,Christopher Krapp,Joseph H. Nadeau,Huntington F. Willard,Huntington F. Willard,Marisa S. Bartolomei +8 more
TL;DR: Mice bearing selected X-linked alleles that regulate X chromosome choice are used to demonstrate that the phenotypes of all three mutations are consistent with models in which the mutations have affected molecules involved specifically in the choice or the initiation of X inactivation.
Journal ArticleDOI
Non-coding roX RNAs prevent the binding of the MSL-complex to heterochromatic regions.
Margarida L. A. Figueiredo,Maria Kim,Philge Philip,Anders Allgardsson,Per Stenberg,Jan Larsson +5 more
TL;DR: It is proposed that the role of roX RNAs is to prevent the binding of the MSL-complex to heterochromatin and the sequence analysis showed that in the absence of ro X RNAs, the MSl-complex has an affinity for regions enriched in Hoppel transposable elements and repeats in general.
Journal ArticleDOI
Epigenetic changes in the repression and induction of asparagine synthetase in human leukemic cell lines.
TL;DR: It is demonstrated in these cells multiple levels in control of the expression of this gene, in a system of cocultivation with macrophages and other cell types, that has potential significance in determining the sensitivity of leukemic cells to L-asparaginase.
Journal ArticleDOI
The Problem of Non-Shared Environment in Behavioral Genetics.
TL;DR: The paradigm of behavioral genetics should be revised, and comprehensive analysis of molecular stochasticity during individual development is strongly required, because available data indicate that the impact of external NSE is likely to be low, which makes the presumptive role of internal NSE rather decisive.
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.