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X chromosome inactivation

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https://www.readbyqxmd.com/read/28633015/haploidy-in-humans-an-evolutionary-and-developmental-perspective
#1
REVIEW
Ido Sagi, Nissim Benvenisty
Although haploidy has not been observed in vertebrates, its natural occurrence in various eukaryotic species that had diverged from diploid ancestors suggests that there is an innate capacity for an organism to regain haploidy and that haploidy may confer evolutionary benefits. Haploid embryonic stem cells have been experimentally generated from mouse, rat, monkey, and humans. Haploidy results in major differences in cell size and gene expression levels while also affecting parental imprinting, X chromosome inactivation, and mitochondrial metabolism genes...
June 19, 2017: Developmental Cell
https://www.readbyqxmd.com/read/28630649/a-complete-duplication-of-x-chromosome-resulting-in-a-tricentric-isochromosome-originated-by-centromere-repositioning
#2
N Villa, D Conconi, D Gambel Benussi, G Tornese, F Crosti, E Sala, L Dalprà, V Pecile
BACKGROUND: Neocentromeres are rare and considered chromosomal aberrations, because a non-centromeric region evolves in an active centromere by mutation. The literature reported several structural anomalies of X chromosome and they influence the female reproductive capacity or are associated to Turner syndrome in the presence of monosomy X cell line. CASE PRESENTATION: We report a case of chromosome X complex rearrangement found in a prenatal diagnosis. The fetal karyotype showed a mosaicism with a 45,X cell line and a 46 chromosomes second line with a big marker, instead of a sex chromosome...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28626024/intersectin-2-controls-actin-cap-formation-and-meiotic-division-in-mouse-oocytes-through-the-cdc42-pathway
#3
Jiaqi Zhang, Rujun Ma, Ling Li, Lina Wang, Xiaojing Hou, Longsen Han, Juan Ge, Mo Li, Qiang Wang
Intersectins (ITSNs), an evolutionarily conserved adaptor protein family, have been implicated in multiple biologic processes; however, their functions in mammalian oocytes have not been addressed. Here, we report delayed meiotic resumption and defective cytokinesis upon specific depletion of ITSN2 in mouse oocytes. In particular, abnormal spindle, misaligned chromosomes, and loss of cortical actin cap are readily observed in ITSN2-depleted oocytes. Similarly, a small molecule that targets the Cdc42-ITSN interaction also disrupts oocyte maturation and actin polymerization...
June 16, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28623283/dosage-compensation-in-the-process-of-inactivation-reactivation-during-both-germ-cell-development-and-early-embryogenesis-in-mouse
#4
Xiaoyong Li, Zhiqiang Hu, Xuelin Yu, Chen Zhang, Binbin Ma, Lin He, Chaochun Wei, Ji Wu
Ohno proposed that dosage compensation in mammals evolved as a two-step mechanism involving X-inactivation and X-upregulation. While X-inactivation is well characterized, it remains to further analysis whether upregulation of the single activated X chromosome in mammals occurs. We obtained RNA-seq data, including single-cell RNA-seq data, from cells undergoing inactivation/reactivation in both germ cell development and early embryogenesis stages in mouse and calculated the X: A ratio from the gene expression...
June 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28619887/comment-on-xist-recruits-the-x-chromosome-to-the-nuclear-lamina-to-enable-chromosome-wide-silencing
#5
Chen-Yu Wang, John E Froberg, Roy Blum, Yesu Jeon, Jeannie T Lee
Chen et al (Reports, 28 October 2016, p. 468) proposed that an interaction between Xist RNA and Lamin B receptor (LBR) is necessary and sufficient for Xist spreading during X-chromosome inactivation. We reanalyzed their data and found that reported genotypes of mutants are not supported by the sequencing data. These inconsistencies preclude assessment of the role of LBR in Xist spreading.
June 16, 2017: Science
https://www.readbyqxmd.com/read/28614581/clinical-biochemical-and-genetic-characterization-of-north-american-patients-with-erythropoietic-protoporphyria-and-x-linked-protoporphyria
#6
Manisha Balwani, Hetanshi Naik, Karl E Anderson, D Montgomery Bissell, Joseph Bloomer, Herbert L Bonkovsky, John D Phillips, Jessica R Overbey, Bruce Wang, Ashwani K Singal, Lawrence U Liu, Robert J Desnick
Importance: Autosomal recessive erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare photodermatoses presenting with variable degrees of painful phototoxicity that markedly affects quality of life. The clinical variability, determinants of severity, and genotype/phenotype correlations of these diseases are not well characterized. Objective: To describe the baseline clinical characteristics, genotypes, and determinants of disease severity in a large patient cohort with EPP or XLP...
June 14, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/28611179/papers-of-note-in-science356-6342
#7
Annalisa M VanHook
This week's articles explore the structural basis for nitrate sensing in bacteria, the importance of attenuating healing responses to reduce fibrosis and allergy, and the recruitment of chromatin silencing factors in X chromosome inactivation.
June 13, 2017: Science Signaling
https://www.readbyqxmd.com/read/28596365/pcgf3-5-prc1-initiates-polycomb-recruitment-in-x-chromosome-inactivation
#8
Mafalda Almeida, Greta Pintacuda, Osamu Masui, Yoko Koseki, Michal Gdula, Andrea Cerase, David Brown, Arne Mould, Cassandravictoria Innocent, Manabu Nakayama, Lothar Schermelleh, Tatyana B Nesterova, Haruhiko Koseki, Neil Brockdorff
Recruitment of the Polycomb repressive complexes PRC1 and PRC2 by Xist RNA is an important paradigm for chromatin regulation by long noncoding RNAs. Here, we show that the noncanonical Polycomb group RING finger 3/5 (PCGF3/5)-PRC1 complex initiates recruitment of both PRC1 and PRC2 in response to Xist RNA expression. PCGF3/5-PRC1-mediated ubiquitylation of histone H2A signals recruitment of other noncanonical PRC1 complexes and of PRC2, the latter leading to deposition of histone H3 lysine 27 methylation chromosome-wide...
June 9, 2017: Science
https://www.readbyqxmd.com/read/28589176/arhgef9-disease-phenotype-clarification-and-genotype-phenotype-correlation
#9
Michael Alber, Vera M Kalscheuer, Elysa Marco, Elliott Sherr, Gaetan Lesca, Marianne Till, Gyri Gradek, Antje Wiesener, Christoph Korenke, Sandra Mercier, Felicitas Becker, Toshiyuki Yamamoto, Stephen W Scherer, Christian R Marshall, Susan Walker, Usha R Dutta, Ashwin B Dalal, Vanessa Suckow, Payman Jamali, Kimia Kahrizi, Hossein Najmabadi, Berge A Minassian
OBJECTIVE: We aimed to generate a review and description of the phenotypic and genotypic spectra of ARHGEF9 mutations. METHODS: Patients with mutations or chromosomal disruptions affecting ARHGEF9 were identified through our clinics and review of the literature. Detailed medical history and examination findings were obtained via a standardized questionnaire, or if this was not possible by reviewing the published phenotypic features. RESULTS: A total of 18 patients (including 5 females) were identified...
June 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28582519/x-chromosome-inactivation-in-human-pluripotent-stem-cells-as-a-model-for-human-development-back-to-the-drawing-board
#10
Mieke Geens, Susana M Chuva De Sousa Lopes
BACKGROUND: Human pluripotent stem cells (hPSC), both embryonic and induced (hESC and hiPSC), are regarded as a valuable in vitro model for early human development. In order to fulfil this promise, it is important that these cells mimic as closely as possible the in vivo molecular events, both at the genetic and epigenetic level. One of the most important epigenetic events during early human development is X chromosome inactivation (XCI), the transcriptional silencing of one of the two X chromosomes in female cells...
June 5, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28546514/the-nuclear-matrix-protein-ciz1-facilitates-localization-of-xist-rna-to-the-inactive-x-chromosome-territory
#11
Rebeca Ridings-Figueroa, Emma R Stewart, Tatyana B Nesterova, Heather Coker, Greta Pintacuda, Jonathan Godwin, Rose Wilson, Aidan Haslam, Fred Lilley, Renate Ruigrok, Sumia A Bageghni, Ghadeer Albadrani, William Mansfield, Jo-An Roulson, Neil Brockdorff, Justin F X Ainscough, Dawn Coverley
The nuclear matrix protein Cip1-interacting zinc finger protein 1 (CIZ1) promotes DNA replication in association with cyclins and has been linked to adult and pediatric cancers. Here we show that CIZ1 is highly enriched on the inactive X chromosome (Xi) in mouse and human female cells and is retained by interaction with the RNA-dependent nuclear matrix. CIZ1 is recruited to Xi in response to expression of X inactive-specific transcript (Xist) RNA during the earliest stages of X inactivation in embryonic stem cells and is dependent on the C-terminal nuclear matrix anchor domain of CIZ1 and the E repeats of Xist CIZ1-null mice, although viable, display fully penetrant female-specific lymphoproliferative disorder...
May 1, 2017: Genes & Development
https://www.readbyqxmd.com/read/28533481/massively-parallel-sequencing-and-genome-wide-copy-number-analysis-revealed-a-clonal-relationship-in-benign-metastasizing-leiomyoma
#12
Ren-Chin Wu, An-Shine Chao, Li-Yu Lee, Gigin Lin, Shu-Jen Chen, Yen-Jung Lu, Huei-Jean Huang, Chi-Feng Yen, Chien Min Han, Yun-Shien Lee, Tzu-Hao Wang, Angel Chao
Benign metastasizing leiomyoma (BML) is a rare disease entity typically presenting as multiple extrauterine leiomyomas associated with a uterine leiomyoma. It has been hypothesized that the extrauterine leiomyomata represent distant metastasis of the uterine leiomyoma. To date, the only molecular evidence supporting this hypothesis was derived from clonality analyses based on X-chromosome inactivation assays. Here, we sought to address this issue by examining paired specimens of synchronous pulmonary and uterine leiomyomata from three patients using targeted massively parallel sequencing and molecular inversion probe array analysis for detecting somatic mutations and copy number aberrations...
May 9, 2017: Oncotarget
https://www.readbyqxmd.com/read/28528201/x-linked-carriers-of-chronic-granulomatous-disease-illness-lyonization-and-stability
#13
Beatriz E Marciano, Christa S Zerbe, E Liana Falcone, Li Ding, Suk See DeRavin, Janine Daub, Samantha Kreuzburg, Lynne Yockey, Sally Hunsberger, Ladan Foruraghi, Lisa A Barnhart, Kabir Matharu, Victoria Anderson, Dirk N Darnell, Cathleen Frein, Danielle L Fink, Karen P Lau, Debra A Long Priel, John I Gallin, Harry L Malech, Gulbu Uzel, Alexandra F Freeman, Douglas B Kuhns, Sergio D Rosenzweig, Steven M Holland
BACKGROUND: Chronic granulomatous disease (CGD) is characterized by recurrent life-threatening bacterial and fungal infections and aberrant inflammation. Mutations in CYBB cause X-linked CGD and account for 65%-70% of cases in western countries. OBJECTIVE: To understand the clinical manifestations associated with the X-linked CGD carrier state. METHODS: We undertook a comprehensive retrospective study of 162 affected females. We examined dihydrorhodamine oxidation (DHR) data for percent (%) X chromosome inactivation...
May 17, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28512193/dna-replication-timing-during-development-anticipates-transcriptional-programs-and-parallels-enhancer-activation
#14
Joseph C Siefert, Constantin Georgescu, Jonathan D Wren, Amnon Koren, Christopher L Sansam
In dividing cells, DNA replication occurs in a precise order, but many questions remain regarding the mechanisms of replication timing establishment and regulation. We now have generated genome-wide, high-resolution replication timing maps throughout zebrafish development. Unexpectedly, in the rapid cell cycles preceding the midblastula transition, a defined timing program was present that predicted the initial wave of zygotic transcription. Replication timing was thereafter progressively and continuously remodeled across the majority of the genome, and epigenetic changes involved in enhancer activation frequently paralleled developmental changes in replication timing...
May 16, 2017: Genome Research
https://www.readbyqxmd.com/read/28502657/rpl10l-is-required-for-male-meiotic-division-by-compensating-for-rpl10-during-meiotic-sex-chromosome-inactivation-in-mice
#15
Long Jiang, Tao Li, Xingxia Zhang, Beibei Zhang, Changping Yu, Yang Li, Suixing Fan, Xiaohua Jiang, Teka Khan, Qiaomei Hao, Peng Xu, Daita Nadano, Mahmoud Huleihel, Eitan Lunenfeld, P Jeremy Wang, Yuanwei Zhang, Qinghua Shi
The mammalian sex chromosomes have undergone profound changes during their evolution from an ancestral pair of autosomes [1-4]. Specifically, the X chromosome has acquired a paradoxical sex-biased function by redistributing gene contents [5, 6] and has generated a disproportionately high number of retrogenes that are located on autosomes and exhibit male-biased expression patterns [6]. Several selection-based models have been proposed to explain this phenomenon, including a model of sexual antagonism driving X inactivation (SAXI) [6-8] and a compensatory mechanism based on meiotic sex chromosome inactivation (MSCI) [6, 8-11]...
May 22, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28491099/induction-of-pluripotent-stem-cells-from-a-manifesting-carrier-of-duchenne-muscular-dystrophy-and-characterization-of-their-x-inactivation-status
#16
Yuko Miyagoe-Suzuki, Takashi Nishiyama, Miho Nakamura, Asako Narita, Fusako Takemura, Satoru Masuda, Narihiro Minami, Kumiko Murayama, Hirofumi Komaki, Yu-Ichi Goto, Shin'ichi Takeda
Three to eight percent of female carriers of Duchenne muscular dystrophy (DMD) develop dystrophic symptoms ranging from mild muscle weakness to a rapidly progressive DMD-like muscular dystrophy due to skewed inactivation of X chromosomes during early development. Here, we generated human induced pluripotent stem cells (hiPSCs) from a manifesting female carrier using retroviral or Sendai viral (SeV) vectors and determined their X-inactivation status. Although manifesting carrier-derived iPS cells showed normal expression of human embryonic stem cell markers and formed well-differentiated teratomas in vivo, many hiPS clones showed bi-allelic expression of the androgen receptor (AR) gene and loss of X-inactivation-specific transcript and trimethyl-histone H3 (Lys27) signals on X chromosomes, suggesting that both X chromosomes of the hiPS cells are in an active state...
2017: Stem Cells International
https://www.readbyqxmd.com/read/28484201/epigenetic-analysis-of-bovine-parthenogenetic-embryonic-fibroblasts
#17
Masahiro Kaneda, Masashi Takahashi, Ken-Ichi Yamanaka, Koji Saito, Masanori Taniguchi, Satoshi Akagi, Shinya Watanabe, Takashi Nagai
Although more than 100 imprinted genes have already been identified in the mouse and human genomes, little is known about genomic imprinting in cattle. For a better understanding of these genes in cattle, parthenogenetically activated bovine blastocysts were transferred to recipient cows to obtain parthenotes, and fibroblasts derived from a Day 40 (Day 0 being the day of parthenogenetic activation) parthenogenetic embryo (BpEFs) were successfully obtained. Bovine embryonic fibroblasts (BEFs) were also isolated from a normal fertilized embryo obtained from an artificially inseminated cow...
May 6, 2017: Journal of Reproduction and Development
https://www.readbyqxmd.com/read/28481423/the-pig-a-gene-mutation-assay-in-mice-and-human-cells-a-review
#18
Ann-Karin Olsen, Stephen D Dertinger, Christopher T Krüger, Dag M Eide, Christine Instanes, Gunnar Brunborg, Andrea Hartwig, Anne Graupner
This MiniReview describes the principle of mutation assays based on the endogenous Pig-a gene and summarizes results for two species of toxicological interest, mice and humans. The work summarized here largely avoids rat-based studies, as are summarized elsewhere. The Pig-a gene mutation assay has emerged as a valuable tool for quantifying in vivo and in vitro mutational events. The Pig-a locus is located at the X-chromosome, giving the advantage that one inactivated allele can give rise to a mutated phenotype, detectable by multi-colour flow cytometry...
May 8, 2017: Basic & Clinical Pharmacology & Toxicology
https://www.readbyqxmd.com/read/28479596/the-x-chromosome-in-space
#19
REVIEW
Teddy Jégu, Eric Aeby, Jeannie T Lee
Extensive 3D folding is required to package a genome into the tiny nuclear space, and this packaging must be compatible with proper gene expression. Thus, in the well-hierarchized nucleus, chromosomes occupy discrete territories and adopt specific 3D organizational structures that facilitate interactions between regulatory elements for gene expression. The mammalian X chromosome exemplifies this structure-function relationship. Recent studies have shown that, upon X-chromosome inactivation, active and inactive X chromosomes localize to different subnuclear positions and adopt distinct chromosomal architectures that reflect their activity states...
June 2017: Nature Reviews. Genetics
https://www.readbyqxmd.com/read/28468635/prc2-represses-transcribed-genes-on-the-imprinted-inactive-x-chromosome-in-mice
#20
Emily Maclary, Michael Hinten, Clair Harris, Shriya Sethuraman, Srimonta Gayen, Sundeep Kalantry
BACKGROUND: Polycomb repressive complex 2 (PRC2) catalyzes histone H3K27me3, which marks many transcriptionally silent genes throughout the mammalian genome. Although H3K27me3 is associated with silenced gene expression broadly, it remains unclear why some but not other PRC2 target genes require PRC2 and H3K27me3 for silencing. RESULTS: Here we define the transcriptional and chromatin features that predict which PRC2 target genes require PRC2/H3K27me3 for silencing by interrogating imprinted mouse X-chromosome inactivation...
May 3, 2017: Genome Biology
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