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X chromosome inactivation

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https://www.readbyqxmd.com/read/28810240/efficient-statistical-method-for-association-analysis-of-x-linked-variants
#1
Heejin Jin, Taesung Park, Sungho Won
BACKGROUND/AIMS: Unlike the gene-poor Y chromosome, the X chromosome contains over 1,000 genes that are essential for viability of cells. Females have 2 X chromosomes, and thus female X-linked gene expression would be expected to be twice that of males. To adjust this imbalance, one of the 2 X-linked genes is often inactivated, and this is known as X-chromosome inactivation (XCI). However, recent studies described that a gene can be nonrandomly selected for inactivation from 2 X-linked genes and that XCI is not observed in some X-linked genes...
August 16, 2017: Human Heredity
https://www.readbyqxmd.com/read/28806168/mapping-the-mouse-allelome-reveals-tissue-specific-regulation-of-allelic-expression
#2
Daniel Andergassen, Christoph P Dotter, Daniel Wenzel, Verena Sigl, Philipp C Bammer, Markus Muckenhuber, Daniela Mayer, Tomasz M Kulinski, Hans-Christian Theussl, Josef M Penninger, Christoph Bock, Denise P Barlow, Florian M Pauler, Quanah J Hudson
To determine the dynamics of allelic-specific expression during mouse development, we analyzed RNA-seq data from 23 F1 tissues from different developmental stages, including 19 female tissues allowing X chromosome inactivation (XCI) escapers to also be detected. We demonstrate that allelic expression arising from genetic or epigenetic differences is highly tissue-specific. We find that tissue-specific strain-biased gene expression may be regulated by tissue-specific enhancers or by post-transcriptional differences in stability between the alleles...
August 14, 2017: ELife
https://www.readbyqxmd.com/read/28801450/genomic-analysis-of-hairy-cell-leukemia-identifies-novel-recurrent-genetic-alterations
#3
Benjamin H Durham, Bartlomiej Getta, Sascha Dietrich, Justin Taylor, Helen Won, James M Bogenberger, Sasinya Scott, Eunhee Kim, Young Rock Chung, Stephen S Chung, Jennifer Hüllein, Tatjana Walther, Lu Wang, Sydney X Lu, Christopher C Oakes, Raoul Tibes, Torsten Haferlach, Barry S Taylor, Martin S Tallman, Michael F Berger, Jae H Park, Thorsten Zenz, Omar Abdel-Wahab
Classical hairy cell leukemia (cHCL) is characterized by a near 100% frequency of the BRAFV600E mutation while ~30% of variant HCL (vHCL) have MAP2K1 mutations. However, recurrent genetic alterations cooperating with BRAFV600E or MAP2K1 mutations in HCL, as well as those in MAP2K1- wildtype vHCL, are not well defined. We therefore performed deep targeted mutational and copy number analysis of cHCL (n=53) and vHCL (n=8). The most common genetic alteration in cHCL outside of BRAFV600E was heterozygous loss of chromosome 7q, the minimally deleted region of which targeted wildtype BRAF, subdividing cHCL into those hemizygous versus heterozygous for the BRAFV600E mutation...
August 11, 2017: Blood
https://www.readbyqxmd.com/read/28796844/genome-wide-identification-of-autosomal-genes-with-allelic-imbalance-of-chromatin-state
#4
Andrej J Savol, Peggy I Wang, Yesu Jeon, David Colognori, Eda Yildirim, Stefan F Pinter, Bernhard Payer, Jeannie T Lee, Ruslan I Sadreyev
In mammals, monoallelic gene expression can result from X-chromosome inactivation, genomic imprinting, and random monoallelic expression (RMAE). Epigenetic regulation of RMAE is not fully understood. Here we analyze allelic imbalance in chromatin state of autosomal genes using ChIP-seq in a clonal cell line. We identify approximately 3.7% of autosomal genes that show significant differences between chromatin states of two alleles. Allelic regulation is represented among several functional gene categories including histones, chromatin modifiers, and multiple early developmental regulators...
2017: PloS One
https://www.readbyqxmd.com/read/28771462/a-tetrad-of-chromatin-interactions-for-chromosome-pairing-in-x-inactivation
#5
Ivan Krivega, Ann Dean
No abstract text is available yet for this article.
August 3, 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/28768204/single-cell-landscape-of-transcriptional-heterogeneity-and-cell-fate-decisions-during-mouse-early-gastrulation
#6
Hisham Mohammed, Irene Hernando-Herraez, Aurora Savino, Antonio Scialdone, Iain Macaulay, Carla Mulas, Tamir Chandra, Thierry Voet, Wendy Dean, Jennifer Nichols, John C Marioni, Wolf Reik
The mouse inner cell mass (ICM) segregates into the epiblast and primitive endoderm (PrE) lineages coincident with implantation of the embryo. The epiblast subsequently undergoes considerable expansion of cell numbers prior to gastrulation. To investigate underlying regulatory principles, we performed systematic single-cell RNA sequencing (seq) of conceptuses from E3.5 to E6.5. The epiblast shows reactivation and subsequent inactivation of the X chromosome, with Zfp57 expression associated with reactivation and inactivation together with other candidate regulators...
August 1, 2017: Cell Reports
https://www.readbyqxmd.com/read/28767436/rnai-mediated-knockdown-of-parp1-does-not-improve-the-development-of-female-cloned-mouse-embryos
#7
Guang-Yu Bai, Si-Hang Song, Rui-Zhen Sun, Zi-Hui Zhang, Jingyu Li, Zhen-Dong Wang, Zhong-Hua Liu, Lei Lei
Somatic cell nuclear transfer is an important technique for life science research, but its efficiency is still extremely low, and most genes that are important during early development, such as X chromosome-linked genes, are not appropriately expressed during this process. Poly (ADP-ribose) polymerase (PARP) is an enzyme that transfers ADP ribose clusters to target proteins. PARP family members such as PARP1 participate in cellular signalling pathways through poly (ADP-ribosylation) (PARylation), which ultimately promotes changes in chromatin structure, gene expression, and the localization and activity of proteins that mediate signalling responses...
July 18, 2017: Oncotarget
https://www.readbyqxmd.com/read/28766050/unique-xci-evolution-in-tokudaia-initial-xci-of-the-neo-x-chromosome-in-tokudaia-muenninki-and-function-loss-of-xist-in-tokudaia-osimensis
#8
Hideki Zushi, Chie Murata, Shusei Mizushima, Chizuko Nishida, Asato Kuroiwa
X chromosome inactivation (XCI) is an essential mechanism to compensate gene dosage in mammals. Here, we show that XCI has evolved differently in two species of the genus Tokudaia. The Amami spiny rat, Tokudaia osimensis, has a single X chromosome in males and females (XO/XO). By contrast, the Okinawa spiny rat, Tokudaia muenninki, has XX/XY sex chromosomes like most mammals, although the X chromosome has acquired a neo-X region by fusion with an autosome. BAC clones containing the XIST gene, which produces the long non-coding RNA XIST required for XCI, were obtained by screening of T...
August 2, 2017: Chromosoma
https://www.readbyqxmd.com/read/28754279/-g6pd-deficiency-in-females-with-neonatal-revelation-report-of-four-cases
#9
A Renault, D Mitanchez, A Cortey
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common human erythrocyte enzyme defect, estimated to affect approximately 4 million people worldwide. It is associated with severe neonatal hyperbilirubinemia, which may lead to bilirubin encephalopathy and kernicterus, and with hemolytic crisis. G6PD deficiency is an X-linked enzymopathy affecting hemizygous males, homozygous females, and also a subset of heterozygous females via chromosome X inactivation. We report four cases of female newborns with neonatal hyperbilirubinemia related to a G6PD deficiency and followed by the Centre national de référence en hémobiologie périnatale (CNRHP) from November 2013 to July 2014...
July 25, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28738367/extensive-amplification-of-telomeric-repeats-in-the-karyotypically-highly-diverse-african-pygmy-mice
#10
Victor Colomina, Josette Catalan, Janice Britton-Davidian, Frédéric Veyrunes
Telomeres are ribonucleoprotein structures protecting the physical ends of eukaryotic chromosomes. However, telomeric sequences can also occur at non-terminal regions of chromosomes, forming the so-called interstitial telomeric sequences (ITSs). Some ITSs are considered as relics of past chromosomal rearrangements and as such provide important insights into karyotype evolution. By FISH, we explored the distribution of telomeric motifs in the genome of a complex of mammalian species that has long been recognized for its extraordinary karyotypic diversity: the African pygmy mice...
July 22, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28732347/histone-demethylase-jmjd2c-epigenetic-regulators-in-tumors
#11
REVIEW
Chengcheng Zhang, Zhongqi Wang, Qing Ji, Qi Li
Histone methylation is one of the major epigenetic modifications, and various histone methylases and demethylases participate in the epigenetic regulating. JMJD2C has been recently identified as one of the histone lysine demethylases. As one member of the Jumonji-C histone demethylase family, JMJD2C has the ability to demethylate tri- or di-methylated histone 3 and 2 in either K9 (lysine residue 9) or K36 (lysine residue 36) sites by an oxidative reaction, thereby affecting heterochromatin formation, genomic imprinting, X-chromosome inactivation, and transcriptional regulation of genes...
July 12, 2017: Oncotarget
https://www.readbyqxmd.com/read/28711407/severe-neuroimaging-anomalies-are-usually-associated-with-random-x-inactivation-in-leucocytes-circulating-dna-in-x-linked-dominant-incontinentia-pigmenti
#12
Volodia Dangouloff-Ros, Smail Hadj-Rabia, Judite Oliveira Santos, Elodie Bal, Isabelle Desguerre, Manoelle Kossorotoff, Isabelle An, Asma Smahi, Christine Bodemer, Arnold Munnich, Julie Steffann, Nathalie Boddaert
Incontinentia Pigmenti (IP) is a skin disorder with neurological impairment in 30% of cases. The most common disease causing mutation is a deletion of exons 4-10 of the IKBKG gene, located on chromosome Xq28, with skewed X-chromosome inactivation in females, but few cases of random X-inactivation have been reported. We have correlated brain anomalies with X-chromosome inactivation status determined on leucocytes circulating DNA. We reviewed MRI of 18 girls with genetically proven IP. We found three patterns of MRI, normal MRI (n=5), mild white matter abnormalities with cortical and corpus callosum atrophy (n=6), and severe cortical abnormalities suggesting a vascular disease (n=7)...
July 10, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28703319/brain-carnitine-deficiency-causes-nonsyndromic-autism-with-an-extreme-male-bias-a-hypothesis
#13
REVIEW
Arthur L Beaudet
Could 10-20% of autism be prevented? We hypothesize that nonsyndromic or "essential" autism involves extreme male bias in infants who are genetically normal, but they develop deficiency of carnitine and perhaps other nutrients in the brain causing autism that may be amenable to early reversal and prevention. That brain carnitine deficiency might cause autism is suggested by reports of severe carnitine deficiency in autism and by evidence that TMLHE deficiency - a defect in carnitine biosynthesis - is a risk factor for autism...
August 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/28698395/long-noncoding-rna-xist-promotes-malignancies-of-esophageal-squamous-cell-carcinoma-via-regulation-of-mir-101-ezh2
#14
Xiaoliang Wu, Xiaoxiao Dinglin, Xing Wang, Wen Luo, Qi Shen, Yong Li, Ling Gu, Qianghua Zhou, Haotu Zhu, Yanjie Li, Chaodi Tan, Xianzi Yang, Zhenfeng Zhang
The long non-coding RNA XIST is a long non-coding RNA that associates with polycomb repressive complex 2 to regulate X-chromosome inactivation in female mammals. The biological roles as well as the underlying mechanisms of XIST in esophageal squamous cell carcinoma remained yet to be solved. Our data indicated that XIST was significantly upregulated in esophageal squamous cancerous tissues and cancer cell lines, as compared with that in the corresponding non-cancerous tissues and immortalized normal squamous epithelial cells...
June 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28692038/par-terra-directs-homologous-sex-chromosome-pairing
#15
Hsueh-Ping Chu, John E Froberg, Barry Kesner, Hyun Jung Oh, Fei Ji, Ruslan Sadreyev, Stefan F Pinter, Jeannie T Lee
In mammals, homologous chromosomes rarely pair outside meiosis. One exception is the X chromosome, which transiently pairs during X-chromosome inactivation (XCI). How two chromosomes find each other in 3D space is not known. Here, we reveal a required interaction between the X-inactivation center (Xic) and the telomere in mouse embryonic stem (ES) cells. The subtelomeric, pseudoautosomal regions (PARs) of the two sex chromosomes (X and Y) also undergo pairing in both female and male cells. PARs transcribe a class of telomeric RNA, dubbed PAR-TERRA, which accounts for a vast majority of all TERRA transcripts...
August 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/28690098/m%C3%A3-llerian-adenosarcoma-of-the-urinary-bladder-clinicopathologic-and-immunohistochemical-features-with-novel-genetic-aberrations
#16
Joseph Sanfrancesco, Sean R Williamson, Jennifer B Kum, Shaobo Zhang, Mingsheng Wang, Antonio Lopez-Beltran, Rodolfo Montironi, Thomas A Gardner, Liang Cheng
BACKGROUND: Müllerian adenosarcoma is a biphasic neoplasm most commonly occurring in the uterus and less frequently of the ovary. It has been rarely described to occur in other sites such as peritoneum and liver. PATIENTS AND METHODS: In this study, we report the clinicopathologic, immunohistochemical and molecular features of a primary Müllerian adenosarcoma of the urinary bladder in a 62-year-old woman. To our knowledge, this is the first report of detailed pathologic characterization of Müllerian adenosarcoma primary to the urinary bladder in the literature...
May 25, 2017: Clinical Genitourinary Cancer
https://www.readbyqxmd.com/read/28686623/xist-rna-repeat-e-is-essential-for-ash2l-recruitment-to-the-inactive-x-and-regulates-histone-modifications-and-escape-gene-expression
#17
Minghui Yue, Akiyo Ogawa, Norishige Yamada, John Lalith Charles Richard, Artem Barski, Yuya Ogawa
Long non-coding RNA Xist plays a crucial role in establishing and maintaining X-chromosome inactivation (XCI) which is a paradigm of long non-coding RNA-mediated gene regulation. Xist has Xist-specific repeat elements A-F which are conserved among eutherian mammals, underscoring their functional importance. Here we report that Xist RNA repeat E, a conserved Xist repeat element in the Xist exon 7, interacts with ASH2L and contributes to maintenance of escape gene expression level on the inactive X-chromosome (Xi) during XCI...
July 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28685322/affected-female-carriers-of-mtm1-mutations-display-a-wide-spectrum-of-clinical-and-pathological-involvement-delineating-diagnostic-clues
#18
Valérie Biancalana, Sophie Scheidecker, Marguerite Miguet, Annie Laquerrière, Norma B Romero, Tanya Stojkovic, Osorio Abath Neto, Sandra Mercier, Nicol Voermans, Laura Tanner, Curtis Rogers, Elisabeth Ollagnon-Roman, Helen Roper, Célia Boutte, Shay Ben-Shachar, Xavière Lornage, Nasim Vasli, Elise Schaefer, Pascal Laforet, Jean Pouget, Alexandre Moerman, Laurent Pasquier, Pascale Marcorelle, Armelle Magot, Benno Küsters, Nathalie Streichenberger, Christine Tranchant, Nicolas Dondaine, Raphael Schneider, Claire Gasnier, Nadège Calmels, Valérie Kremer, Karine Nguyen, Julie Perrier, Erik Jan Kamsteeg, Pierre Carlier, Robert-Yves Carlier, Julie Thompson, Anne Boland, Jean-François Deleuze, Michel Fardeau, Edmar Zanoteli, Bruno Eymard, Jocelyn Laporte
X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations in the MTM1 gene located on the X chromosome. A majority of affected males die in the early postnatal period, whereas female carriers are believed to be usually asymptomatic. Nevertheless, several affected females have been reported. To assess the phenotypic and pathological spectra of carrier females and to delineate diagnostic clues, we characterized 17 new unrelated affected females and performed a detailed comparison with previously reported cases at the clinical, muscle imaging, histological, ultrastructural and molecular levels...
July 6, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28684628/defects-in-dosage-compensation-impact-global-gene-regulation-in-the-mouse-trophoblast
#19
Yuka Sakata, Koji Nagao, Yuko Hoki, Hiroyuki Sasaki, Chikashi Obuse, Takashi Sado
Xist RNA responsible for X inactivation is one of the most important epigenetic players for embryogenesis of female mammals. Of the several repeats conserved in Xist RNA, the A-repeat has been shown to be essential for its silencing function in differentiating ES cells. Here, we introduced a new Xist allele into the mouse, which produces mutated Xist RNA lacking the A-repeat (Xist(CAGΔ5') ). Xist(CAGΔ5') RNA expressed in the embryo coated the X chromosome but failed to silence it. Although imprinted X inactivation was substantially compromised upon paternal transmission, allele-specific RNA-seq in the trophoblast revealed that Xist(CAGΔ5') RNA still retained some silencing ability...
July 6, 2017: Development
https://www.readbyqxmd.com/read/28663000/skewed-x-chromosome-inactivation-and-xist-locus-methylation-levels-do-not-contribute-to-the-lower-prevalence-of-parkinson-s-disease-in-females
#20
Amit Sharma, Oliver Kaut, Anna Pavlova, Holger Fröhlich, Ashar Ahmad, Ina Schmitt, Osman El-Maarri, Johannes Oldenburg, Ullrich Wüllner
Parkinson's disease (PD) is a degenerative disorder of the nervous system and the cause of the majority of sporadic cases is unknown. Females are relatively protected from PD as compared with males and linkage studies suggested a PD susceptibility locus on the X chromosome. To determine a putative association of skewed X-chromosome inactivation (XCI) and PD, we examined XCI patterns using a human androgen receptor gene-based assay (HUMARA) and did not identify any association of skewed or random X inactivation with clinical heterogeneity among female PD patients...
September 2017: Neurobiology of Aging
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