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X chromosome inactivation

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https://www.readbyqxmd.com/read/29449410/conserved-microrna-targeting-reveals-preexisting-gene-dosage-sensitivities-that-shaped-amniote-sex-chromosome-evolution
#1
Sahin Naqvi, Daniel W Bellott, Kathy S Lin, David C Page
Mammalian X and Y Chromosomes evolved from an ordinary autosomal pair. Genetic decay of the Y led to X Chromosome inactivation (XCI) in females, but some Y-linked genes were retained during the course of sex chromosome evolution, and many X-linked genes did not become subject to XCI. We reconstructed gene-by-gene dosage sensitivities on the ancestral autosomes through phylogenetic analysis of microRNA (miRNA) target sites and compared these preexisting characteristics to the current status of Y-linked and X-linked genes in mammals...
February 15, 2018: Genome Research
https://www.readbyqxmd.com/read/29401310/human-cis-acting-elements-regulating-escape-from-x-chromosome-inactivation-function-in-mouse
#2
Samantha B Peeters, Andrea J Korecki, Elizabeth M Simpson, Carolyn J Brown
A long-standing question concerning X-chromosome inactivation (XCI) has been how some genes avoid the otherwise stable chromosome-wide heterochromatinization of the inactive X chromosome. As 20% or more of human X-linked genes escape from inactivation, such genes are an important contributor to sex differences in gene expression. Although both human and mouse have genes that escape from XCI, more genes escape in humans than mice, with human escape genes often clustering in larger domains than the single escape genes of mouse...
February 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29386003/whole-exome-sequencing-of-benign-pulmonary-metastasizing-leiomyoma-reveals-mutation-in-the-bmp8b-gene
#3
Deniss Sõritsa, Hindrek Teder, Retlav Roosipuu, Hannes Tamm, Triin Laisk-Podar, Pille Soplepmann, Alan Altraja, Andres Salumets, Maire Peters
BACKGROUND: Benign metastasizing leiomyoma (BML) is an orphan neoplasm commonly characterized by pulmonary metastases consisting of smooth muscle cells. Patients with BML have usually a current or previous uterine leiomyoma, which is therefore suggested to be the most probable source of this tumour. The purpose of this case report was to determine the possible genetic grounds for pulmonary BML. CASE PRESENTATION: We present a case report in an asymptomatic 44-year-old female patient, who has developed uterine leiomyoma with subsequent pulmonary BML...
January 31, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29377992/genetic-and-epigenetic-factors-which-modulate-differentiation-propensity-in-human-pluripotent-stem-cells
#4
Alexander Keller, Dominika Dziedzicka, Filippo Zambelli, Christina Markouli, Karen Sermon, Claudia Spits, Mieke Geens
BACKGROUND: Human pluripotent stem cell (hPSC) lines are known to have a bias in their differentiation. This gives individual cell lines a propensity to preferentially differentiate towards one germ layer or cell type over others. Chromosomal aberrations, mitochondrial mutations, genetic diversity and epigenetic variance are the main drivers of this phenomenon, and can lead to a wide range of phenotypes. OBJECTIVE AND RATIONALE: Our aim is to provide a comprehensive overview of the different factors which influence differentiation propensity...
January 25, 2018: Human Reproduction Update
https://www.readbyqxmd.com/read/29374277/cxorf56-a-dendritic-neuronal-protein-identified-as-a-new-candidate-gene-for-x-linked-intellectual-disability
#5
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...
January 26, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29374079/tlr7-escapes-x-chromosome-inactivation-in-immune-cells
#6
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
https://www.readbyqxmd.com/read/29372079/deciphering-the-role-of-the-barr-body-in-malignancy-an-insight-into-head-and-neck-cancer
#7
REVIEW
Deepti Sharma, George Koshy, Shruti Gupta, Bhushan Sharma, Sonal Grover
X chromosome inactivation is the epitome of epigenetic regulation and long non-coding ribonucleic acid function. The differentiation status of cells has been ascribed to X chromosome activity, with two active X chromosomes generally only observed in undifferentiated or poorly differentiated cells. Recently, several studies have indicated that the reactivation of an inactive X chromosome or X chromosome multiplication correlates with the development of malignancy; however, this concept is still controversial...
November 2017: Sultan Qaboos University Medical Journal
https://www.readbyqxmd.com/read/29353144/effects-of-the-hdac-inhibitor-scriptaid-on-the-in%C3%A2-vitro-development-of-bovine-embryos-and-on-imprinting-gene-expression-levels
#8
R Laguna-Barraza, M J Sánchez-Calabuig, A Gutiérrez-Adán, D Rizos, S Pérez-Cerezales
This study examines the effects of the histone deacetylation inhibitor scriptaid (SCR) on preimplantation embryo development in vitro and on imprinting gene expression. We hypothesized that SCR would increase histone acetylation levels, enhance embryonic genome activation, and regulate imprinting and X-chromosome inactivation (XCI) in in vitro produced bovine embryos. Zygotes were cultured in vitro in presence or absence of SCR added at different time points. We assessed cleavage and blastocyst rates as well as the quality of blastocysts through: (i) differential cell counts; (ii) survival after vitrification/thawing and (iii) gene expression analysis -including imprinted genes...
January 11, 2018: Theriogenology
https://www.readbyqxmd.com/read/29337991/hasappy-a-tool-for-candidate-identification-in-pooled-forward-genetic-screens-of-haploid-mammalian-cells
#9
Giulio Di Minin, Andreas Postlmayr, Anton Wutz
Haploid cells are increasingly used for screening of complex pathways in animal genomes. Hemizygous mutations introduced through viral insertional mutagenesis can be directly selected for phenotypic changes. Here we present HaSAPPy a tool for analysing sequencing datasets of screens using insertional mutations in large pools of haploid cells. Candidate gene prediction is implemented through identification of enrichment of insertional mutations after selection by simultaneously evaluating several parameters...
January 16, 2018: PLoS Computational Biology
https://www.readbyqxmd.com/read/29335548/paternal-easirnas-regulate-parental-genome-dosage-in-arabidopsis
#10
German Martinez, Philip Wolff, Zhenxing Wang, Jordi Moreno-Romero, Juan Santos-González, Lei Liu Conze, Christopher DeFraia, R Keith Slotkin, Claudia Köhler
The regulation of parental genome dosage is of fundamental importance in animals and plants, as exemplified by X-chromosome inactivation and dosage compensation. The 'triploid block' is a classic example of dosage regulation in plants that establishes a reproductive barrier between species differing in chromosome number1,2. This barrier acts in the embryo-nourishing endosperm tissue and induces the abortion of hybrid seeds through a yet unknown mechanism 3 . Here we show that depletion of paternal epigenetically activated small interfering RNAs (easiRNAs) bypasses the triploid block in response to increased paternal ploidy in Arabidopsis thaliana...
January 15, 2018: Nature Genetics
https://www.readbyqxmd.com/read/29335024/sex-differences-in-the-late-first-trimester-human-placenta-transcriptome
#11
Tania L Gonzalez, Tianyanxin Sun, Alexander F Koeppel, Bora Lee, Erica T Wang, Charles R Farber, Stephen S Rich, Lauren W Sundheimer, Rae A Buttle, Yii-Der Ida Chen, Jerome I Rotter, Stephen D Turner, John Williams, Mark O Goodarzi, Margareta D Pisarska
BACKGROUND: Development of the placenta during the late first trimester is critical to ensure normal growth and development of the fetus. Developmental differences in this window such as sex-specific variation are implicated in later placental disease states, yet gene expression at this time is poorly understood. METHODS: RNA-sequencing was performed to characterize the transcriptome of 39 first trimester human placentas using chorionic villi following genetic testing (17 females, 22 males)...
January 15, 2018: Biology of Sex Differences
https://www.readbyqxmd.com/read/29325627/epigenetic-mechanisms-underlying-nervous-system-diseases
#12
Irfan A Qureshi, Mark F Mehler
Epigenetic mechanisms act as control systems for modulating genomic structure and activity in response to evolving profiles of cell-extrinsic, cell-cell, and cell-intrinsic signals. These dynamic processes are responsible for mediating cell- and tissue-specific gene expression and function and gene-gene and gene-environmental interactions. The major epigenetic mechanisms include DNA methylation and hydroxymethylation; histone protein posttranslational modifications, nucleosome remodeling/repositioning, and higher-order chromatin reorganization; noncoding RNA regulation; and RNA editing...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29325624/sex-chromosome-aneuploidies
#13
David Skuse, Frida Printzlau, Jeanne Wolstencroft
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY. Despite their prevalence in the general population, these disorders are underdiagnosed and the specific genetic mechanisms underlying their phenotypes are poorly understood. Although there is considerable variation between them in terms of associated functional impairment, each disorder has a characteristic physical, cognitive, and neurologic profile...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29316023/sj%C3%A3-gren-s-syndrome-x-chromosome-dose-effect-an-epigenetic-perspective
#14
REVIEW
Jean-Luc C Mougeot, Braxton Noll, Farah K Bahrani Mougeot
Sjögren's syndrome (SS) is a chronic autoimmune disease affecting exocrine glands leading to mouth and eyes dryness. The extent to which epigenetic DNA methylation changes are responsible for an X-chromosome dose effect has yet to be determined. Our objectives were to (i) describe how epigenetic DNA methylation changes could explain an X-chromosome dose effect in SS for women with normal 46,XX genotype and (ii) determine the relevant relationships to this dose effect, between X-linked genes, genes controlling X-chromosome inactivation (XCI) and genes encoding associated transcription factors, all of which are differentially expressed and/or differentially methylated in the salivary glands of SS patients...
January 9, 2018: Oral Diseases
https://www.readbyqxmd.com/read/29282321/a-mixed-modality-approach-towards-xi-reactivation-for-rett-syndrome-and-other-x-linked-disorders
#15
Lieselot L G Carrette, Chen-Yu Wang, Chunyao Wei, William Press, Weiyuan Ma, Raymond J Kelleher, Jeannie T Lee
The X-chromosome harbors hundreds of disease genes whose associated diseases predominantly affect males. However, a subset, including neurodevelopmental disorders, Rett syndrome (RTT), fragile X syndrome, and CDKL5 syndrome, also affects females. These disorders lack disease-specific treatment. Because female cells carry two X chromosomes, an emerging treatment strategy has been to reawaken the healthy allele on the inactive X (Xi). Here, we focus on methyl-CpG binding protein 2 (MECP2) restoration for RTT and combinatorially target factors in the interactome of Xist, the noncoding RNA responsible for X inactivation...
December 27, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29281819/rlim-dependent-and-independent-pathways-for-x-chromosome-inactivation-in-female-escs
#16
Feng Wang, Kurtis N McCannell, Ana Bošković, Xiaochun Zhu, JongDae Shin, Jun Yu, Judith Gallant, Meg Byron, Jeanne B Lawrence, Lihua J Zhu, Stephen N Jones, Oliver J Rando, Thomas G Fazzio, Ingolf Bach
During female mouse embryogenesis, two forms of X chromosome inactivation (XCI) ensure dosage compensation from sex chromosomes. Beginning at the four-cell stage, imprinted XCI (iXCI) exclusively silences the paternal X (Xp), and this pattern is maintained in extraembryonic cell types. Epiblast cells, which give rise to the embryo proper, reactivate the Xp (XCR) and undergo a random form of XCI (rXCI) around implantation. Both iXCI and rXCI depend on the long non-coding RNA Xist. The ubiquitin ligase RLIM is required for iXCI in vivo and occupies a central role in current models of rXCI...
December 26, 2017: Cell Reports
https://www.readbyqxmd.com/read/29279609/molecular-characterization-of-hdac8-deletions-in-individuals-with-atypical-cornelia-de-lange-syndrome
#17
Maria Helgeson, Jennifer Keller-Ramey, Amy Knight Johnson, Jennifer A Lee, Daniel B Magner, Brett Deml, Jacea Deml, Ying-Ying Hu, Zejuan Li, Kirsten Donato, Soma Das, Rachel Laframboise, Sandra Tremblay, Ian Krantz, Sarah Noon, George Hoganson, Jennifer Burton, Christian P Schaaf, Daniela Del Gaudio
Cornelia de Lange syndrome (CdLS) is a rare neurodevelopmental syndrome for which mutations in five causative genes that encode (SMC1A, SMC3, RAD21) or regulate (NIPBL, HDAC8) the cohesin complex, account for ~70% of cases. Herein we report on four female Subjects who were found to carry novel intragenic deletions in HDAC8. In one case, the deletion was found in mosaic state and it was determined to be present in ~38% of blood lymphocytes and in nearly all cells of a buccal sample. All deletions, for which parental blood samples were available, were shown to have arisen de novo...
December 26, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29273752/alternative-dominance-of-the-parental-genomes-in-hybrid-cells-generated-through-the-fusion-of-mouse-embryonic-stem-cells-with-fibroblasts
#18
Natalia M Matveeva, Veniamin S Fishman, Irina S Zakharova, Alexander I Shevchenko, Inna E Pristyazhnyuk, Aleksei G Menzorov, Oleg L Serov
For the first time, two types of hybrid cells with embryonic stem (ES) cell-like and fibroblast-like phenotypes were produced through the fusion of mouse ES cells with fibroblasts. Transcriptome analysis of 2,848 genes differentially expressed in the parental cells demonstrated that 34-43% of these genes are expressed in hybrid cells, consistent with their phenotypes; 25-29% of these genes display intermediate levels of expression, and 12-16% of these genes maintained expression at the parental cell level, inconsistent with the phenotype of the hybrid cell...
December 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29240263/cytochemical-flow-analysis-of-intracellular-g6pd-and-aggregate-analysis-of-mosaic-g6pd-expression
#19
Michael Kalnoky, Germana Bancone, Maria Kahn, Cindy S Chu, Nongnud Chowwiwat, Pornpimon Wilaisrisak, Sampa Pal, Nicole LaRue, Brandon Leader, Francois Nosten, Gonzalo J Domingo
BACKGROUND: Medicines that exert oxidative pressure on red blood cells (RBC) can cause severe hemolysis in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Due to X-chromosome inactivation, females heterozygous for G6PD with 1 allele encoding a G6PD-deficient protein and the other a normal protein produce 2 RBC populations each expressing exclusively 1 allele. The G6PD mosaic is not captured with routine G6PD tests. METHODS: An open-source software tool for G6PD cytofluorometric data interpretation is described...
March 2018: European Journal of Haematology
https://www.readbyqxmd.com/read/29237550/the-effects-of-dna-methylation-on-human-psychology
#20
REVIEW
Farzeen Kader, Meenu Ghai, Leah Maharaj
DNA methylation is a fundamental epigenetic modification in the human genome; pivotal in development, genomic imprinting, X inactivation, chromosome stability, gene expression and methylation aberrations are involved in an array of human diseases. Methylation at promoters is associated with transcriptional repression, whereas gene body methylation is generally associated with gene expression. Extrinsic factors such as age, diets and lifestyle affect DNA methylation which consequently alters gene expression...
December 10, 2017: Behavioural Brain Research
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