keyword
MENU ▼
Read by QxMD icon Read
search

XCI

keyword
https://www.readbyqxmd.com/read/28320934/allele-specific-non-cg-dna-methylation-marks-domains-of-active-chromatin-in-female-mouse-brain
#1
Christopher L Keown, Joel B Berletch, Rosa Castanon, Joseph R Nery, Christine M Disteche, Joseph R Ecker, Eran A Mukamel
DNA methylation at gene promoters in a CG context is associated with transcriptional repression, including at genes silenced on the inactive X chromosome in females. Non-CG methylation (mCH) is a distinct feature of the neuronal epigenome that is differentially distributed between males and females on the X chromosome. However, little is known about differences in mCH on the active (Xa) and inactive (Xi) X chromosomes because stochastic X-chromosome inactivation (XCI) confounds allele-specific epigenomic profiling...
March 20, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28316128/skewed-x-chromosome-inactivation-plays-a-crucial-role-in-the-onset-of-symptoms-in-carriers-of-becker-muscular-dystrophy
#2
Emanuela Viggiano, Esther Picillo, Manuela Ergoli, Alessandra Cirillo, Stefania Del Gaudio, Luisa Politano
BACKGROUND: Becker muscular dystrophy (BMD) is an X-linked recessive disorder affecting about 1:18,000 male births. Female carriers are usually asymptomatic, but 2.5-18% may present muscle or heart symptoms. In the present work the role of the X chromosome inactivation (XCI) on the onset of symptoms in BMD carriers was analysed and compared with the pattern observed in Duchenne muscular dystrophy (DMD) carriers. METHODS: XCI was determined on the lymphocytes of 36 BMD carriers - both symptomatic and not symptomatic - from 11 families requiring genetic advice at the Cardiomyology and Medical Genetics of the Second University of Naples, through the AR methylation-based assay...
March 18, 2017: Journal of Gene Medicine
https://www.readbyqxmd.com/read/28315662/insights-into-the-establishment-of-chromatin-states-in-pluripotent-cells-from-studies-of-x-inactivation
#3
REVIEW
Andreas Postlmayr, Anton Wutz
Animal development entails the sequential and coordinated specialisation of cells. During cell differentiation transcription factors, cell signalling pathways and chromatin associated protein complexes cooperate in regulating the expression of a large number of genes. Here we review the present understanding of the establishment of chromatin states by focusing on X chromosome inactivation (XCI) as a model for facultative heterochromatin formation in female embryonic cells. The inactive X chromosome (Xi) is large enough to be investigated by biochenical and microscopy techniques...
March 15, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28257137/novel-players-in-x-inactivation-insights-into-xist-mediated-gene-silencing-and-chromosome-conformation
#4
REVIEW
Simão T da Rocha, Edith Heard
The nuclear long noncoding RNA (lncRNA) Xist ensures X-chromosome inactivation (XCI) in female placental mammals. Although Xist is one of the most intensively studied lncRNAs, the mechanisms associated with its capacity to trigger chromosome-wide gene silencing, the formation of facultative heterochromatin and an unusual 3D conformation of the inactive X chromosome (Xi) have remained elusive. Now researchers have identified novel functional partners of Xist in a series of breakthrough studies, using unbiased techniques to isolate Xist-bound proteins, as well as forward genetic screens...
March 3, 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/28236732/x-chromosome-inactivation-silencing-topology-and-reactivation
#5
REVIEW
Teresa Robert Finestra, Joost Gribnau
To ensure X-linked gene dosage compensation between females (XX) and males (XY), one X chromosome undergoes X chromosome inactivation (XCI) in female cells. This process is tightly regulated throughout development by many different factors, with Xist as a key regulator, encoding a long non-coding RNA, involved in establishment of several layers of repressive epigenetic modifications. Several recent studies on XCI focusing on identification and characterization of Xist RNA-protein interactors, revealed new factors involved in gene silencing, genome topology and nuclear membrane attachment, amongst others...
February 21, 2017: Current Opinion in Cell Biology
https://www.readbyqxmd.com/read/28220611/non-coding-rnas-emerging-regulatory-factors-in-the-derivation-and-differentiation-of-mammalian-parthenogenetic-embryonic-stem-cells
#6
REVIEW
Jihong Cui, Xin Xie
Parthenogenetic embryonic stem cells (PESCs) are ESCs derived from early parthenogenetic embryos. Haploid PESCs, containing haploid DNA, originate from a single sperm or occyte, while, diploid PESCs originate from two fused occytes. Most PESC lines used so far are diploid. PESCs exhibit representative pluripotent stem cell features, such as the capacity for self-renewal and the pariticular molecular signatures. Whereas, PESCs display distinctive properties, such as differential regulation of X-chromosome inactivation (XCI) and divergent monitor of genes involved in multiple biological processes...
February 21, 2017: Cell Biology International
https://www.readbyqxmd.com/read/27896428/xci-escaping-gene-kdm5c-contributes-to-ovarian-development-via-downregulating-mir-320a
#7
Yi-Xi Sun, Yi-Xin Zhang, Dan Zhang, Chen-Ming Xu, Song-Chang Chen, Jun-Yu Zhang, Ye-Chun Ruan, Feng Chen, Run-Ju Zhang, Ye-Qing Qian, Yi-Feng Liu, Lu-Yang Jin, Tian-Tian Yu, Hai-Yan Xu, Yu-Qin Luo, Xin-Mei Liu, Fei Sun, Jian-Zhong Sheng, He-Feng Huang
Mechanisms underlying female gonadal dysgenesis remain unclarified and relatively unstudied. Whether X-chromosome inactivation (XCI)-escaping genes and microRNAs (miRNAs) contribute to this condition is currently unknown. We compared 45,X Turner Syndrome women with 46,XX normal women, and investigated differentially expressed miRNAs in Turner Syndrome through plasma miRNA sequencing. We found that miR-320a was consistently upregulated not only in 45,X plasma and peripheral blood mononuclear cells (PBMCs), but also in 45,X fetal gonadal tissues...
November 28, 2016: Human Genetics
https://www.readbyqxmd.com/read/27792840/maternal-genetic-polymorphisms-and-unexplained-recurrent-miscarriage-a-systematic-review-and-meta-analysis
#8
REVIEW
X Shi, X Xie, Y Jia, S Li
The roles of genetic polymorphisms in the pathogenesis of recurrent miscarriage (RM) have been intensively studied. However, the results of these studies were inconsistent, especially when conducted in different populations. Therefore, we performed the current study to systematically review the broad spectrum of genetic polymorphisms that were suspected to be involved in RM, and discussed potential genetic biomarkers of RM. Eligible articles were identified in PubMed, Medline, Embase and CNKI. Odd ratios (ORs) and 95% confidence intervals (CIs) were used to describe the strength of association, and a probability value (p value) of 0...
February 2017: Clinical Genetics
https://www.readbyqxmd.com/read/27777941/a-review-of-rett-syndrome-rtt-with-induced-pluripotent-stem-cells
#9
REVIEW
Vellingiri Balachandar, Venkatesan Dhivya, Mohan Gomathi, Subramaniam Mohanadevi, Balasubramanian Venkatesh, Bharathi Geetha
Human induced pluripotent stem cells (hiPSCs) are pluripotent stem cells generated from somatic cells by the introduction of a combination of pluripotency-associated genes such as OCT4, SOX2, along with either KLF4 and c-MYC or NANOG and LIN28 via retroviral or lentiviral vectors. Most importantly, hiPSCs are similar to human embryonic stem cells (hESCs) functionally as they are pluripotent and can potentially differentiate into any desired cell type when provided with the appropriate cues, but do not have the ethical issues surrounding hESCs...
2016: Stem Cell Investigation
https://www.readbyqxmd.com/read/27761913/xq28-duplication-including-mecp2-in-six-unreported-affected-females-what-can-we-learn-for-diagnosis-and-genetic-counselling
#10
S El Chehadeh, R Touraine, F Prieur, W Reardon, T Bienvenu, S Chantot-Bastaraud, M Doco-Fenzy, E Landais, C Philippe, N Marle, P Callier, A-L Mosca-Boidron, F Mugneret, N Le Meur, A Goldenberg, A-M Guerrot, P Chambon, V Satre, C Coutton, P-S Jouk, F Devillard, K Dieterich, A Afenjar, L Burglen, M-L Moutard, M-C Addor, S Lebon, D Martinet, J-L Alessandri, B Doray, M Miguet, D Devys, P Saugier-Veber, S Drunat, B Aral, V Kremer, S Rondeau, A-C Tabet, J Thevenon, C Thauvin-Robinet, N Perreton, V Des Portes, L Faivre
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling...
October 19, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27749765/trauma-induced-acute-x-chromosome-skewing-in-white-blood-cells-represents-an-immuno-modulatory-mechanism-unique-to-females-and-a-likely-contributor-to-sex-based-outcome-differences
#11
Geber Pena, Christina Michalski, Robert J Donnelly, Yong Qin, Ziad C Sifri, Anne C Mosenthal, David H Livingston, Zoltan Spolarics
Sex-related outcome disparities following severe trauma have been demonstrated in human and animal studies; however, sex hormone status could not fully account for the differences. This study tested whether X-linked cellular mosaicism, which is unique to females, could represent a genetically based mechanism contributing to sex-related immuno-modulation following trauma. Serial blood samples collected for routine laboratory tests were analyzed for ChrX inactivation (XCI) ratios in white blood cells. Thirty-nine severely injured (mean ISS 19) female trauma patients on mixed racial and ethnic background were tested for initial (baseline) and trauma-induced changes in XCI ratios and their associations with severity of injury and clinical outcome...
April 2017: Shock
https://www.readbyqxmd.com/read/27716834/round-spermatid-injection-rescues-female-lethality-of-a-paternally-inherited-xist-deletion-in-mouse
#12
Federica Federici, Aristea Magaraki, Evelyne Wassenaar, Catherina J H van Veen-Buurman, Christine van de Werken, Esther B Baart, Joop S E Laven, J Anton Grootegoed, Joost Gribnau, Willy M Baarends
In mouse female preimplantation embryos, the paternal X chromosome (Xp) is silenced by imprinted X chromosome inactivation (iXCI). This requires production of the noncoding Xist RNA in cis, from the Xp. The Xist locus on the maternally inherited X chromosome (Xm) is refractory to activation due to the presence of an imprint. Paternal inheritance of an Xist deletion (XpΔXist) is embryonic lethal to female embryos, due to iXCI abolishment. Here, we circumvented the histone-to-protamine and protamine-to-histone transitions of the paternal genome, by fertilization of oocytes via injection of round spermatids (ROSI)...
October 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27542829/female-mice-lacking-xist-rna-show-partial-dosage-compensation-and-survive-to-term
#13
Lin Yang, James E Kirby, Hongjae Sunwoo, Jeannie T Lee
X-chromosome inactivation (XCI) compensates for differences in X-chromosome number between male and female mammals. XCI is orchestrated by Xist RNA, whose expression in early development leads to transcriptional silencing of one X chromosome in the female. Knockout studies have established a requirement for Xist with inviability of female embryos that inherit an Xist deletion from the father. Here, we report that female mice lacking Xist RNA can, surprisingly, develop and survive to term. Xist-null females are born at lower frequency and are smaller at birth, but organogenesis is mostly normal...
August 1, 2016: Genes & Development
https://www.readbyqxmd.com/read/27528619/xist-and-tsix-transcription-dynamics-is-regulated-by-the-x-to-autosome-ratio-and-semistable-transcriptional-states
#14
Friedemann Loos, Cheryl Maduro, Agnese Loda, Johannes Lehmann, Gert-Jan Kremers, Derk Ten Berge, J Anton Grootegoed, Joost Gribnau
In female mammals, X chromosome inactivation (XCI) is a key process in the control of gene dosage compensation between X-linked genes and autosomes. Xist and Tsix, two overlapping antisense-transcribed noncoding genes, are central elements of the X inactivation center (Xic) regulating XCI. Xist upregulation results in the coating of the entire X chromosome by Xist RNA in cis, whereas Tsix transcription acts as a negative regulator of Xist Here, we generated Xist and Tsix reporter mouse embryonic stem (ES) cell lines to study the genetic and dynamic regulation of these genes upon differentiation...
November 1, 2016: Molecular and Cellular Biology
https://www.readbyqxmd.com/read/27527711/a-self-enhanced-transport-mechanism-through-long-noncoding-rnas-for-x-chromosome-inactivation
#15
Chunhe Li, Tian Hong, Chiu-Ho Webb, Heather Karner, Sha Sun, Qing Nie
X-chromosome inactivation (XCI) is the mammalian dosage compensation strategy for balancing sex chromosome content between females and males. While works exist on initiation of symmetric breaking, the underlying allelic choice mechanisms and dynamic regulation responsible for the asymmetric fate determination of XCI remain elusive. Here we combine mathematical modeling and experimental data to examine the mechanism of XCI fate decision by analyzing the signaling regulatory circuit associated with long noncoding RNAs (lncRNAs) involved in XCI...
2016: Scientific Reports
https://www.readbyqxmd.com/read/27504142/thoughts-about-slc16a2-tsix-and-xist-gene-like-sites-in-the-human-genome-and-a-potential-role-in-cellular-chromosome-counting
#16
Martina Rinčić, Ivan Y Iourov, Thomas Liehr
BACKGROUND: Chromosome counting is a process in which cells determine somehow their intrinsic chromosome number(s). The best-studied cellular mechanism that involves chromosome counting is 'chromosome-kissing' and X-chromosome inactivation (XCI) mechanism. It is necessary for the well-known dosage compensation between the genders in mammals to balance the number of active X-chromosomes (Xa) with regard to diploid set of autosomes. At the onset of XCI, two X-chromosomes are coming in close proximity and pair physically by a specific segment denominated X-pairing region (Xpr) that involves the SLC16A2 gene...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27488033/sexually-dimorphic-gene-expression-in-bovine-conceptuses-at-the-initiation-of-implantation
#17
Niamh Forde, Veronica Maillo, Peadar O'Gaora, Constantine A Simintiras, Roger G Sturmey, Alan D Ealy, Thomas E Spencer, Alfonso Gutierrez-Adan, Dimitrios Rizos, Patrick Lonergan
In cattle, maternal recognition of pregnancy occurs on Day 16 via secretion of interferon tau (IFNT) by the conceptus. The endometrium can distinguish between embryos with different developmental competencies. In eutherian mammals, X-chromosome inactivation (XCI) is required to ensure an equal transcriptional level of most X-linked genes for both male and female embryos in adult tissues, but this process is markedly different in cattle than mice. We examined how sexual dimorphism affected conceptus transcript abundance and amino acid composition as well as the endometrial transcriptome during the peri-implantation period of pregnancy...
October 2016: Biology of Reproduction
https://www.readbyqxmd.com/read/27486082/single-cell-analyses-of-x-chromosome-inactivation-dynamics-and-pluripotency-during-differentiation
#18
Geng Chen, John Paul Schell, Julio Aguila Benitez, Sophie Petropoulos, Marlene Yilmaz, Björn Reinius, Zhanna Alekseenko, Leming Shi, Eva Hedlund, Fredrik Lanner, Rickard Sandberg, Qiaolin Deng
Pluripotency, differentiation, and X Chromosome inactivation (XCI) are key aspects of embryonic development. However, the underlying relationship and mechanisms among these processes remain unclear. Here, we systematically dissected these features along developmental progression using mouse embryonic stem cells (mESCs) and single-cell RNA sequencing with allelic resolution. We found that mESCs grown in a ground state 2i condition displayed transcriptomic profiles diffused from preimplantation mouse embryonic cells, whereas EpiStem cells closely resembled the post-implantation epiblast...
October 2016: Genome Research
https://www.readbyqxmd.com/read/27475703/human-blood-cell-levels-of-5-hydroxymethylcytosine-5hmc-decline-with-age-partly-related-to-acquired-mutations-in-tet2
#19
Manuel Buscarlet, Alain Tessier, Sylvie Provost, Luigina Mollica, Lambert Busque
Epigenetic alteration may play a role in age-associated dysfunction of stem cells, and predispose to the development of hematological cancers. We analysed global levels of hematopoietic 5-hydroxymethylcytosine (5hmC) and 5-methylcytosine (5mC) in a cross sectional study comprising 198 unrelated individuals from four age categories (neonates, 25-30, 70-75, and >90 years old) by mass spectrometry (LC-ESI-MS/MS-MRM). X-chromosome inactivation (XCI) ratios and telomere length (TL) were measured in all individuals by PCR...
July 27, 2016: Experimental Hematology
https://www.readbyqxmd.com/read/27437574/structural-organization-of-the-inactive-x-chromosome-in-the-mouse
#20
Luca Giorgetti, Bryan R Lajoie, Ava C Carter, Mikael Attia, Ye Zhan, Jin Xu, Chong Jian Chen, Noam Kaplan, Howard Y Chang, Edith Heard, Job Dekker
X-chromosome inactivation (XCI) involves major reorganization of the X chromosome as it becomes silent and heterochromatic. During female mammalian development, XCI is triggered by upregulation of the non-coding Xist RNA from one of the two X chromosomes. Xist coats the chromosome in cis and induces silencing of almost all genes via its A-repeat region, although some genes (constitutive escapees) avoid silencing in most cell types, and others (facultative escapees) escape XCI only in specific contexts. A role for Xist in organizing the inactive X (Xi) chromosome has been proposed...
July 28, 2016: Nature
keyword
keyword
62305
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"