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
More filters
Journal ArticleDOI
Varying levels of X chromosome coalescence in female somatic cells alters the balance of X-linked dosage compensation and is implicated in female-dominant systemic lupus erythematosus.
Agnieszka I. Laskowski,Daniel S. Neems,Kyle Laster,Chelsee Strojny-Okyere,Ellen L. Rice,Iwona M. Konieczna,Jessica H. Voss,James M. Mathew,Joseph R. Leventhal,Rosalind Ramsey-Goldman,Erica D. Smith,Steven T. Kosak +11 more
TL;DR: An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Journal ArticleDOI
DNA Loci Cross-Talk through Thermodynamics
Antonio Scialdone,Mario Nicodemi +1 more
TL;DR: This paper proposes the first quantitative model from Statistical Mechanics, able to clarify the interaction allowing such “DNA cross-talk” events, and carries out a detailed “in silico” analysis of it, by means of Monte Carlo simulations.
Journal ArticleDOI
Paternal inheritance in mealybugs (Hemiptera: Coccoidea: Pseudococcidae)
TL;DR: It is demonstrated that paternal inheritance can occur from males to their F2 offspring, through F1 males (paternal line), and other, hitherto unknown, aspects of inheritance in mealybugs are revealed, such as that hybridization between the two species caused absence of paternal traits in F2 hybrid females produced by F1 hybrid females.
Journal ArticleDOI
[Analysis of expression of parental alleles Xist and Gla in interspecific embryonic hybrid cells during induced in vitro inactivation of X-chromosomes].
M. V. Puzakov,Nariman Battulin,S. A. Temirova,N. M. Matveeva,N. A. Serdyukova,A. S. Grafodatsky,Oleg L. Serov +6 more
TL;DR: The results of in situ hybridization with labeled species specific and X- Chromosome-specific probes suggest that hybrid cells obtained by fusion of Mus musculus embryonic stem cells and splenocytes of M. caroli females contain two parental X-chromosomes.
Journal ArticleDOI
The application of restriction landmark genome scanning method for surveillance of non-mendelian inheritance in f(1) hybrids.
Tomoko Takamiya,Saeko Hosobuchi,Tomotsugu Noguchi,Andrew H. Paterson,Hiroshi Iijima,Yasufumi Murakami,Hisato Okuizumi +6 more
TL;DR: Results show the applicability of RLGS for scanning of non-Mendelian inheritance of DNA methylation and biased allelic expression in reciprocal F1 hybrids of rice.
References
More filters
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.