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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The Epigenome of Evolving Drosophila Neo-Sex Chromosomes: Dosage Compensation and Heterochromatin Formation
Qi Zhou,Christopher E. Ellison,Vera B. Kaiser,Artyom A. Alekseyenko,Artyom A. Alekseyenko,Andrey A. Gorchakov,Doris Bachtrog +6 more
TL;DR: This study shows how young sex chromosomes have altered their chromatin structure in Drosophila, and what genomic changes have led to silencing of the Y, and hyper-transcription of the X.
Journal ArticleDOI
A new role for expressed pseudogenes as ncRNA: regulation of mRNA stability of its homologous coding gene
Yoshihisa Yano,Rintaro Saito,Noriyuki Yoshida,Atsushi Yoshiki,Anthony Wynshaw-Boris,Masaru Tomita,Shinji Hirotsune +6 more
TL;DR: A mutant mouse generated in a course of making a transgenic line that exhibited interesting heterozygote phenotypes provided a clue to uncover a unique role of expressed pseudogenes, demonstrating a novel and specific regulatory role of an expressed pseudogene as well as functional significance for noncoding RNAs.
Journal ArticleDOI
Autoimmunity and Turner's syndrome
TL;DR: In conclusion, TS is a condition associated with a number of autoimmune manifestations and early diagnosis and regular screening for potential associated autoimmune conditions are essential in the medical follow-up of TS patients.
Journal ArticleDOI
DNA methylation, genomic silencing, and links to nutrition and cancer.
Dale C. McCabe,Marie A. Caudill +1 more
TL;DR: The purpose of this review is to examine the relationship between dietary methyl insufficiency and DNA methylation, and to evaluate the associations betweenDNA methylation and cancer.
Journal ArticleDOI
A Primary Role for the Tsix lncRNA in Maintaining Random X-Chromosome Inactivation
TL;DR: X-chromosome activity in Tsix-mutant (X(ΔTsix)) mouse embryonic epiblasts, epiblast stem cells, and embryonic stem cells is profile and it is found that Xist is stably repressed on the X(Tsix) in both sexes in undifferentiated epoblast cells in vivo and in vitro, resulting in stochastic X-inactivation in females despite Tsix.
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.