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https://www.readbyqxmd.com/read/29763708/pcdh19-regulation-of-neural-progenitor-cell-differentiation-suggests-asynchrony-of-neurogenesis-as-a-mechanism-contributing-to-pcdh19-girls-clustering-epilepsy
#1
Claire C Homan, Stephen Pederson, Thu-Hien To, Chuan Tan, Sandra Piltz, Mark Corbett, Ernst Wolvetang, Paul Thomas, Lachlan A Jolly, Jozef Gecz
PCDH19-Girls Clustering Epilepsy (PCDH19-GCE) is a childhood epileptic encephalopathy characterised by a spectrum of neurodevelopmental problems. PCDH19-GCE is caused by heterozygous loss-of-function mutations in the X-chromosome gene, Protocadherin 19 (PCDH19) encoding a cell-cell adhesion molecule. Intriguingly, hemizygous males are generally unaffected. As PCDH19 is subjected to random X-inactivation, heterozygous females are comprised of a mosaic of cells expressing either the normal or mutant allele, which is thought to drive pathology...
May 12, 2018: Neurobiology of Disease
https://www.readbyqxmd.com/read/29717186/novel-nexmif-pathogenic-variant-in-a-boy-with-severe-autistic-features-intellectual-disability-and-epilepsy-and-his-mildly-affected-mother
#2
Nelle Lambert, Corinne Dauve, Emmanuelle Ranza, Periklis Makrythanasis, Federico Santoni, Frédérique Sloan-Béna, Stefania Gimelli, Jean-Louis Blouin, Michel Guipponi, Armand Bottani, Stylianos E Antonarakis, Markus M Kosel, Joel Fluss, Ariane Paoloni-Giacobino
Intellectual disability (ID) and autism spectrum disorders are complex neurodevelopmental disorders occurring among all ethnic and socioeconomic groups. Pathogenic variants in the neurite extension and migration factor (NEXMIF) gene (formerly named KIAA2022) on the X chromosome are responsible for ID, autistic behavior, epilepsy, or dysmorphic features in males. Most affected females described had a milder phenotype or were asymptomatic obligate carriers. We report here for the first time mother-to-son transmission of a novel NEXMIF truncating variant without X-inactivation skewing in the blood...
May 1, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29706539/the-ftx-noncoding-locus-controls-x-chromosome-inactivation-independently-of-its-rna-products
#3
Giulia Furlan, Nancy Gutierrez Hernandez, Christophe Huret, Rafael Galupa, Joke Gerarda van Bemmel, Antonio Romito, Edith Heard, Céline Morey, Claire Rougeulle
Accumulation of the Xist long noncoding RNA (lncRNA) on one X chromosome is the trigger for X chromosome inactivation (XCI) in female mammals. Xist expression, which needs to be tightly controlled, involves a cis-acting region, the X-inactivation center (Xic), containing many lncRNA genes that evolved concomitantly to Xist from protein-coding ancestors through pseudogeneization and loss of coding potential. Here, we uncover an essential role for the Xic-linked noncoding gene Ftx in the regulation of Xist expression...
April 20, 2018: Molecular Cell
https://www.readbyqxmd.com/read/29701779/the-exceptional-nature-of-the-x-chromosome
#4
Bradley P Balaton, Thomas Dixon-McDougall, Samantha B Peeters, Carolyn J Brown
The X chromosome is unique in the genome. In this review we discuss recent advances in our understanding of the genetics and epigenetics of the X chromosome. The X chromosome shares limited conservation with its ancestral homologue the Y chromosome and the resulting difference in X chromosome dosage between males and females is largely compensated for by X-chromosome inactivation. The process of inactivation is initiated by the long non-coding RNA XIST and achieved through interaction with multiple synergistic silencing pathways...
April 26, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29685978/interplay-between-long-non-coding-rnas-and-epigenetic-machinery-emerging-targets-in-cancer
#5
REVIEW
David J Hanly, Manel Esteller, María Berdasco
Of the diverse array of putative molecular and biological functions assigned to long non-coding RNAs (lncRNAs), one attractive perspective in epigenetic research has been the hypothesis that lncRNAs directly interact with the proteins involved in the modulation of chromatin conformation. Indeed, epigenetic modifiers are among the most frequent protein partners of lncRNAs that have been identified to date, of which histone methyltransferases and protein members of the Polycomb Repressive Complex PRC2 have received considerable attention...
June 5, 2018: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/29678955/studying-x-chromosome-inactivation-in-the-single-cell-genomic-era
#6
REVIEW
Andrew Keniry, Marnie E Blewitt
Single-cell genomics is set to revolutionise our understanding of how epigenetic silencing works; by studying specific epigenetic marks or chromatin conformations in single cells, it is possible to ask whether they cause transcriptional silencing or are instead a consequence of the silent state. Here, we review what single-cell genomics has revealed about X chromosome inactivation, perhaps the best characterised mammalian epigenetic process, highlighting the novel findings and important differences between mouse and human X inactivation uncovered through these studies...
April 20, 2018: Biochemical Society Transactions
https://www.readbyqxmd.com/read/29677183/divergent-genome-evolution-caused-by-regional-variation-in-dna-gain-and-loss-between-human-and-mouse
#7
Reuben M Buckley, R Daniel Kortschak, David L Adelson
The forces driving the accumulation and removal of non-coding DNA and ultimately the evolution of genome size in complex organisms are intimately linked to genome structure and organisation. Our analysis provides a novel method for capturing the regional variation of lineage-specific DNA gain and loss events in their respective genomic contexts. To further understand this connection we used comparative genomics to identify genome-wide individual DNA gain and loss events in the human and mouse genomes. Focusing on the distribution of DNA gains and losses, relationships to important structural features and potential impact on biological processes, we found that in autosomes, DNA gains and losses both followed separate lineage-specific accumulation patterns...
April 20, 2018: PLoS Computational Biology
https://www.readbyqxmd.com/read/29670509/altered-gene-regulatory-function-of-kdm5c-by-a-novel-mutation-associated-with-autism-and-intellectual-disability
#8
Christina N Vallianatos, Clara Farrehi, Michael J Friez, Margit Burmeister, Catherine E Keegan, Shigeki Iwase
Intellectual disability (ID) affects up to 2% of the population world-wide and often coincides with other neurological conditions such as autism spectrum disorders. Mutations in KDM5C cause Mental Retardation, X-linked, Syndromic, Claes-Jensen type (MRXSCJ, OMIM #300534) and are one of the most common causes of X-linked ID. KDM5C encodes a histone demethylase for di- and tri-methylated histone H3 lysine 4 (H3K4me2/3), which are enriched in transcriptionally engaged promoter regions. KDM5C regulates gene transcription; however, it remains unknown whether removal of H3K4me is fully responsible for KDM5C-mediated gene regulation...
2018: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29623395/variable-x-chromosome-inactivation-and-enlargement-of-pericentral-glutamine-synthetase-zones-in-the-liver-of-heterozygous-females-with-otc-deficiency
#9
Dita Musalkova, Eva Sticova, Martin Reboun, Jitka Sokolova, Jakub Krijt, Jitka Honzikova, Jiri Gurka, Magdalena Neroldova, Tomas Honzik, Jiri Zeman, Milan Jirsa, Lenka Dvorakova, Martin Hrebicek
Ornithine transcarbamylase (OTC) deficiency is an X-linked disorder that causes recurrent and life-threatening episodes of hyperammonemia. The clinical picture in heterozygous females is highly diverse and derives from the genotype and the degree of inactivation of the mutated X chromosome in hepatocytes. Here, we describe molecular genetic, biochemical, and histopathological findings in the livers explanted from two female patients with late-onset OTC deficiency. Analysis of X-inactivation ratios by DNA methylation-based assays showed remarkable intra-organ variation ranging from 46:54 to 82:18 (average 70:30, n = 37), in favor of the active X chromosome carrying the mutation c...
April 6, 2018: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/29615635/characterization-of-sex-based-dna-methylation-signatures-in-the-airways-during-early-life
#10
Cesar L Nino, Geovanny F Perez, Natalia Isaza, Maria J Gutierrez, Jose L Gomez, Gustavo Nino
Human respiratory conditions are largely influenced by the individual's sex resulting in overall higher risk for males. Sex-based respiratory differences are present at birth suggesting a strong genetic component. Our objective was to characterize early life sex-based genomic signatures determined by variable X-chromosome methylation in the airways. We compared male versus female genome-wide DNA methylation in nasal airway samples from newborns and infants aged 1-6 months (N = 12). We analyzed methylation signals across CpG sites mapped to each X-linked gene using an unsupervised classifier (principal components) followed by an internal evaluation and an exhaustive cross-validation...
April 3, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29577911/long-non-coding-rna-xist-as-a-prognostic-cancer-marker-a-meta-analysis
#11
REVIEW
Qun Zhou, Wei Hu, Wei Zhu, Feng Zhang, Li Lin-Lin, Cong Liu, Yi-Yan Songyang, Cheng-Cao Sun, Dejia Li
BACKGROUND: The X inactivate-specific transcript (XIST), derived from XIST gene, is aberrantly expressed in various cancers. High-expression of XIST is related to poor clinical outcome. This meta-analysis evaluated the potential role of XIST as novel predictor of prognosis in human cancer. MATERIALS AND METHODS: This meta-analysis collected eligible studies about XIST and tumor prognosis through retrieving keywords in Web of Science, PubMed, Embase and the CNKI database, from 1993 to August 21, 2017...
March 23, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29568981/three-dimensional-organization-and-dynamics-of-the-genome
#12
REVIEW
Przemyslaw Szalaj, Dariusz Plewczynski
Genome is a complex hierarchical structure, and its spatial organization plays an important role in its function. Chromatin loops and topological domains form the basic structural units of this multiscale organization and are essential to orchestrate complex regulatory networks and transcription mechanisms. They also form higher-order structures such as chromosomal compartments and chromosome territories. Each level of this intrinsic architecture is governed by principles and mechanisms that we only start to understand...
March 22, 2018: Cell Biology and Toxicology
https://www.readbyqxmd.com/read/29558889/naa10-dysfunction-with-normal-nata-complex-activity-in-a-girl-with-non-syndromic-id-and-a-de-novo-naa10-p-v111g-variant-a-case-report
#13
Nina McTiernan, Svein Isungset Støve, Ingvild Aukrust, Marita Torrisen Mårli, Line M Myklebust, Gunnar Houge, Thomas Arnesen
BACKGROUND: The NAA10-NAA15 (NatA) protein complex is an N-terminal acetyltransferase responsible for acetylating ~ 40% of eukaryotic proteins. In recent years, NAA10 variants have been found in patients with an X-linked developmental disorder called Ogden syndrome in its most severe form and, in other familial or de novo cases, with variable degrees of syndromic intellectual disability (ID) affecting both sexes. CASE PRESENTATION: Here we report and functionally characterize a novel and de novo NAA10 (NM_003491...
March 20, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29556138/prognostic-role-of-long-non-coding-rna-xist-expression-in-patients-with-solid-tumors-a-meta-analysis
#14
REVIEW
Huihui Mao, Kai Wang, Yuehua Feng, Jun Zhang, Lili Pan, Yuxia Zhan, Haijun Sheng, Guanghua Luo
Background: The aberrant expression of long non-coding RNA (lncRNA) X inactivate-specific transcript (XIST) has been demonstrated to be involved in the tumourigenesis and the development of various cancers. Therefore, we conducted a meta-analysis to assess the prognostic role of lncRNA XIST expression in solid tumors. Methods: The databases of PubMed, EMBase, Web of Science, Cochrane library (up to Dec 31, 2017) were searched for the related studies and identified 15 eligible studies containing 1209 patients to include in the meta-analysis...
2018: Cancer Cell International
https://www.readbyqxmd.com/read/29520293/analysis-of-parent-of-origin-effects-on-the-x-chromosome-in-asian-and-european-orofacial-cleft-triads-identifies-associations-with-dmd-fgf13-egfl6-and-additional-loci-at-xp22-2
#15
Øivind Skare, Rolv T Lie, Øystein A Haaland, Miriam Gjerdevik, Julia Romanowska, Håkon K Gjessing, Astanand Jugessur
Background: Although both the mother's and father's alleles are present in the offspring, they may not operate at the same level. These parent-of-origin (PoO) effects have not yet been explored on the X chromosome, which motivated us to develop new methods for detecting such effects. Orofacial clefts (OFCs) exhibit sex-specific differences in prevalence and are examples of traits where a search for various types of effects on the X chromosome might be relevant. Materials and Methods: We upgraded our R-package Haplin to enable genome-wide analyses of PoO effects, as well as power simulations for different statistical models...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29508720/x-linked-chronic-granulomatous-disease-in-a-female-carrier-with-novel-pathogenic-mutation-and-skewed-x-inactivation
#16
Joana Barroso Amaral, Artur Augusto Paiva, Fabiana Viana Ramos, Marie José Stasia, Sónia Gaspar Lemos
No abstract text is available yet for this article.
March 2018: Annals of Allergy, Asthma & Immunology
https://www.readbyqxmd.com/read/29490426/demonstration-of-a-novel-xp22-2-microdeletion-as-the-cause-of-familial-extreme-skewing-of-x-inactivation-utilizing-case-parent-trio-snp-microarray-analysis
#17
Jane A Mason, Hnin T Aung, Adayapalam Nandini, Rickie G Woods, David J Fairbairn, John A Rowell, David Young, Rachel D Susman, Simon A Brown, Valentine J Hyland, Jeremy D Robertson
BACKGROUND: We report a kindred referred for molecular investigation of severe hemophilia A in a young female in which extremely skewed X-inactivation was observed in both the proband and her clinically normal mother. METHODS: Bidirectional Sanger sequencing of all F8 gene coding regions and exon/intron boundaries was undertaken. Methylation-sensitive restriction enzymes were utilized to investigate skewed X-inactivation using both a classical human androgen receptor (HUMARA) assay, and a novel method targeting differential methylation patterns in multiple informative X-chromosome SNPs...
February 28, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29423802/methods-for-cpg-methylation-array-profiling-via-bisulfite-conversion
#18
Fatjon Leti, Lorida Llaci, Ivana Malenica, Johanna K DiStefano
DNA methylation is a key factor in epigenetic regulation, and contributes to the pathogenesis of many diseases, including various forms of cancers, and epigenetic events such X inactivation, cellular differentiation and proliferation, and embryonic development. The most conserved epigenetic modification in plants, animals, and fungi is 5-methylcytosine (5mC), which has been well characterized across a diverse range of species. Many technologies have been developed to measure modifications in methylation with respect to biological processes, and the most common method, long considered a gold standard for identifying regions of methylation, is bisulfite conversion...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29374277/cxorf56-a-dendritic-neuronal-protein-identified-as-a-new-candidate-gene-for-x-linked-intellectual-disability
#19
Annemieke J M H Verkerk, Shimriet Zeidler, Guido Breedveld, Lydia Overbeek, Daphne Huigh, Linda Koster, Herma van der Linde, Celine de Esch, Lies-Anne Severijnen, Bert B A de Vries, Sigrid M A Swagemakers, Rob Willemsen, A Jeannette M Hoogeboom, Peter J van der Spek, Ben A Oostra
Intellectual disability (ID) comprises a large group of heterogeneous disorders, often without a known molecular cause. X-linked ID accounts for 5-10% of male ID cases. We investigated a large, three-generation family with mild ID and behavior problems in five males and one female, with a segregation suggestive for X-linked inheritance. Linkage analysis mapped a disease locus to a 7.6 Mb candidate region on the X-chromosome (LOD score 3.3). Whole-genome sequencing identified a 2 bp insertion in exon 2 of the chromosome X open reading frame 56 gene (CXorf56), resulting in a premature stop codon...
April 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29374079/-tlr7-escapes-x-chromosome-inactivation-in-immune-cells
#20
Mélanie Souyris, Claire Cenac, Pascal Azar, Danièle Daviaud, Astrid Canivet, Solange Grunenwald, Catherine Pienkowski, Julie Chaumeil, José E Mejía, Jean-Charles Guéry
Toll-like receptor 7 (TLR7) is critical to the induction of antiviral immunity, but TLR7 dosage is also a key pathogenic factor in systemic lupus erythematosus (SLE), an autoimmune disease with strong female bias. SLE prevalence is also elevated in individuals with Klinefelter syndrome, who carry one or more supernumerary X chromosomes, suggesting that the X chromosome complement contributes to SLE susceptibility. TLR7 is encoded by an X chromosome locus, and we examined here whether the TLR7 gene evades silencing by X chromosome inactivation in immune cells from women and Klinefelter syndrome males...
January 26, 2018: Science Immunology
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