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https://www.readbyqxmd.com/read/29728705/pathogenic-variants-in-e3-ubiquitin-ligase-rlim-rnf12-lead-to-a-syndromic-x-linked-intellectual-disability-and-behavior-disorder
#1
Suzanna G M Frints, Aysegul Ozanturk, Germán Rodríguez Criado, Ute Grasshoff, Bas de Hoon, Michael Field, Sylvie Manouvrier-Hanu, Scott E Hickey, Molka Kammoun, Karen W Gripp, Claudia Bauer, Christopher Schroeder, Annick Toutain, Theresa Mihalic Mosher, Benjamin J Kelly, Peter White, Andreas Dufke, Eveline Rentmeester, Sungjin Moon, Daniel C Koboldt, Kees E P van Roozendaal, Hao Hu, Stefan A Haas, Hans-Hilger Ropers, Lucinda Murray, Eric Haan, Marie Shaw, Renee Carroll, Kathryn Friend, Jan Liebelt, Lynne Hobson, Marjan De Rademaeker, Joep Geraedts, Jean-Pierre Fryns, Joris Vermeesch, Martine Raynaud, Olaf Riess, Joost Gribnau, Nicholas Katsanis, Koen Devriendt, Peter Bauer, Jozef Gecz, Christelle Golzio, Cristina Gontan, Vera M Kalscheuer
RLIM, also known as RNF12, is an X-linked E3 ubiquitin ligase acting as a negative regulator of LIM-domain containing transcription factors and participates in X-chromosome inactivation (XCI) in mice. We report the genetic and clinical findings of 84 individuals from nine unrelated families, eight of whom who have pathogenic variants in RLIM (RING finger LIM domain-interacting protein). A total of 40 affected males have X-linked intellectual disability (XLID) and variable behavioral anomalies with or without congenital malformations...
May 4, 2018: Molecular Psychiatry
https://www.readbyqxmd.com/read/29706539/the-ftx-noncoding-locus-controls-x-chromosome-inactivation-independently-of-its-rna-products
#2
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/29620233/a-frameshift-mutation-in-the-chm-gene-causes-choroideremia-with-acute-angle%C3%A2-closure-glaucoma
#3
Pingbo Ouyang, Yun Li, Feng Zhang, Chengzhang Zhu, Beiji Zou, Jianlan Le, Lusi Zhang
Choroideremia is an X‑linked recessive chorioretinal degenerative disease that is characterized by progressive centripetal loss of the photoreceptor, retinal pigment epithelium (RPE), and choriocapillaris layers. The CHM gene [choroideremia (Rab escort protein 1)] has been identified as the pathogenic gene in choroideremia. The aim of the present study was to describe the clinical and genetic characteristics of a family with choroideremia family. In the present study, a family with choroideremia presenting with serious chorioretinal atrophy and pigment proliferation, shallow anterior chambers, angle closure and high intraocular pressure (IOP) were recruited...
April 5, 2018: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29553562/pooled-shrna-screen-for-reactivation-of-mecp2-on-the-inactive-x-chromosome
#4
Vid Leko, Smitha Sripathy, Robin L Adrianse, Taylor Loe, Angela Park, Uyen Lao, Eric J Foss, Marisa S Bartolomei, Antonio Bedalov
Forward genetic screens using reporter genes inserted into the heterochromatin have been extensively used to investigate mechanisms of epigenetic control in model organisms. Technologies including short hairpin RNAs (shRNAs) and clustered regularly interspaced short palindromic repeats (CRISPR) have enabled such screens in diploid mammalian cells. Here we describe a large-scale shRNA screen for regulators of X-chromosome inactivation (XCI), using a murine cell line with firefly luciferase and hygromycin resistance genes knocked in at the C-terminus of the methyl CpG binding protein 2 (MeCP2) gene on the inactive X-chromosome (Xi)...
March 2, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29546464/chromosome-wide-gene-dosage-rebalance-may-benefit-tumor-progression
#5
Honglei Zhang, Xing Yang, Xu Feng, Haibo Xu, Qin Yang, Li Zou, Mei Yan, Dequan Liu, Xiaosan Su, Baowei Jiao
The high-risk of tumor initiation in patients with Turner syndrome (TS) characterized by X chromosome monosomy in women has been well established and aneuploidy, defined as an abnormal number of chromosomes, is a common feature in human cancer. However, the underlying mechanisms of X chromosome aneuploidy promoting tumorigenesis remain obscure. We propose that chromosome-wide gene dosage imbalance (CDI) may serve as an important mechanism. Here, we assess the relative expression ratios of X chromosome and autosomes (expression ratios of X:AA) between tumor samples and adjacent normal samples across 16 tumor types using expression datasets from The Cancer Genome Atlas (TCGA) project...
March 15, 2018: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29459630/development-of-ultra-deep-targeted-rna-sequencing-for-analyzing-x-chromosome-inactivation-in-female-dent-disease
#6
Shogo Minamikawa, Kandai Nozu, Yoshimi Nozu, Tomohiko Yamamura, Mariko Taniguchi-Ikeda, Keita Nakanishi, Junya Fujimura, Tomoko Horinouchi, Yuko Shima, Koichi Nakanishi, Masuji Hattori, Kyoko Kanda, Ryojiro Tanaka, Naoya Morisada, China Nagano, Nana Sakakibara, Hiroaki Nagase, Ichiro Morioka, Hiroshi Kaito, Kazumoto Iijima
The pattern of X-chromosome inactivation (XCI) can affect the clinical severity of X-linked disorders in females. XCI pattern analysis has been conducted mainly by HUMARA assay, a polymerase chain reaction-based assay using a methylation-sensitive restriction enzyme. However, this assay examines the XCI ratio of the androgen receptor gene at the genomic DNA level and does not reflect the ratio of either targeted gene directly or at the mRNA level. Here, we report four females with Dent disease, and we clarified the correlation between XCI and female cases of Dent disease using not only HUMARA assay but also a novel analytical method by RNA sequencing...
May 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29449410/conserved-microrna-targeting-reveals-preexisting-gene-dosage-sensitivities-that-shaped-amniote-sex-chromosome-evolution
#7
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...
April 2018: Genome Research
https://www.readbyqxmd.com/read/29401310/human-cis-acting-elements-regulating-escape-from-x-chromosome-inactivation-function-in-mouse
#8
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...
April 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29353144/effects-of-the-hdac-inhibitor-scriptaid-on-the-in-vitro-development-of-bovine-embryos-and-on-imprinting-gene-expression-levels
#9
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...
April 1, 2018: Theriogenology
https://www.readbyqxmd.com/read/29316023/sj%C3%A3-gren-s-syndrome-x-chromosome-dose-effect-an-epigenetic-perspective
#10
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/29281819/rlim-dependent-and-independent-pathways-for-x-chromosome-inactivation-in-female-escs
#11
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/29186799/whole-genome-re-alignment-facilitates-development-of-specific-molecular-markers-for-races-1-and-4-of-xanthomonas-campestris-pv-campestris-the-cause-of-black-rot-disease-in-brassica-oleracea
#12
Mehede Hassan Rubel, Arif Hasan Khan Robin, Sathishkumar Natarajan, Joana G Vicente, Hoy-Taek Kim, Jong-In Park, Ill-Sup Nou
Black rot, caused by Xanthomonas campestris pv. campestris ( Xcc ), is a seed borne disease of Brassicaceae . Eleven pathogenic races have been identified based on the phenotype interaction pattern of differential brassica cultivars inoculated with different strains. Race 1 and 4 are the two most frequent races found in Brassica oleracea crops. In this study, a PCR molecular diagnostic tool was developed for the identification of Xcc races 1 and 4 of this pathogen. Whole genomic sequences of races 1, 3, 4 and 9 and sequences of three other Xanthomonas pathovars/species ( X...
November 24, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29178618/a-unified-partial-likelihood-approach-for-x-chromosome-association-on-time-to-event-outcomes
#13
Wei Xu, Meiling Hao
The expression of X-chromosome undergoes three possible biological processes: X-chromosome inactivation (XCI), escape of the X-chromosome inactivation (XCI-E), and skewed X-chromosome inactivation (XCI-S). Although these expressions are included in various predesigned genetic variation chip platforms, the X-chromosome has generally been excluded from the majority of genome-wide association studies analyses; this is most likely due to the lack of a standardized method in handling X-chromosomal genotype data...
February 2018: Genetic Epidemiology
https://www.readbyqxmd.com/read/29175505/characteristics-of-induced-pluripotent-stem-cells-from-clinically-divergent-female-monozygotic-twins-with-danon-disease
#14
Shohei Yoshida, Chiaki Nakanishi, Hirofumi Okada, Masayuki Mori, Junichiro Yokawa, Tsuyoshi Yoshimuta, Kunio Ohta, Tetsuo Konno, Noboru Fujino, Masa-Aki Kawashiri, Akihiro Yachie, Masakazu Yamagishi, Kenshi Hayashi
RATIONALE: Induced pluripotent stem cells (iPSCs) have been generated from patients with various forms of disease, including Danon disease (DD); however, few reports exist regarding disease-specific iPSCs derived from clinically divergent monozygotic twins. OBJECTIVE: We examined the characteristics of iPSCs and iPSC-derived cardiomyocytes (iPSC-CMs) generated from clinically divergent monozygotic female twins with DD. METHODS AND RESULTS: We generated iPSCs derived from T-cells isolated from clinically divergent, 18-year-old female twins with DD harboring a mutation in LAMP2 at the intron 6 splice site (IVS6+1_4delGTGA)...
January 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29141583/clinical-and-molecular-genetic-characterization-of-familial-mecp2-duplication-syndrome-in-a-chinese-family
#15
Xiaoyan Li, Hua Xie, Qian Chen, Xiongying Yu, Zhaoshi Yi, Erzhen Li, Ting Zhang, Jian Wang, Jianmin Zhong, Xiaoli Chen
BACKGROUND: Chromosomal duplication at the Xq28 region including the MECP2 gene, share consistent clinical phenotypes and a distinct facial phenotype known as MECP2 duplication syndrome. The typical clinical features include infantile hypotonia , mild dysmorphic features, a broad range of neurodevelopmental disorders, recurrent infections, and progressive spasticity. METHODS: This Chinese MECP2 duplication syndrome family includes six patients (five males and one female), and four asymptomatic female carriers...
November 15, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29119601/an-integrative-approach-to-assess-x-chromosome-inactivation-using-allele-specific-expression-with-applications-to-epithelial-ovarian-cancer
#16
Nicholas B Larson, Zachary C Fogarty, Melissa C Larson, Kimberly R Kalli, Kate Lawrenson, Simon Gayther, Brooke L Fridley, Ellen L Goode, Stacey J Winham
X-chromosome inactivation (XCI) epigenetically silences transcription of an X chromosome in females; patterns of XCI are thought to be aberrant in women's cancers, but are understudied due to statistical challenges. We develop a two-stage statistical framework to assess skewed XCI and evaluate gene-level patterns of XCI for an individual sample by integration of RNA sequence, copy number alteration, and genotype data. Our method relies on allele-specific expression (ASE) to directly measure XCI and does not rely on male samples or paired normal tissue for comparison...
December 2017: Genetic Epidemiology
https://www.readbyqxmd.com/read/29107559/genetic-intersection-of-tsix-and-hedgehog-signaling-during-the-initiation-of-x-chromosome-inactivation
#17
Brian C Del Rosario, Amanda M Del Rosario, Anthony Anselmo, Peggy I Wang, Ruslan I Sadreyev, Jeannie T Lee
X-chromosome inactivation (XCI) silences one X chromosome in the female mammal and is essential to peri-implantation development. XCI is thought to be cell autonomous, with all factors required being produced within each cell. Nevertheless, external cues may exist. Here, we search for such developmental signals by combining bioinformatic, biochemical, and genetic approaches. Using ex vivo and in vivo models, we identify the Hedgehog (HH) paracrine system as a candidate signaling cascade. HH signaling keeps XCI in check in pluripotent cells and is transduced by GLI transcription factors to binding sites in Tsix, the antisense repressor of XCI...
November 6, 2017: Developmental Cell
https://www.readbyqxmd.com/read/29092048/intragenomic-conflict-and-immune-tolerance-do-selfish-x-linked-alleles-drive-skewed-x-chromosome-inactivation
#18
Scott W Roy
In mammalian females, diploid somatic cells contain two X chromosomes, one of which is transcriptionally silenced, in a process termed X chromosome inactivation (XCI). While XCI is largely random in placental females, many women exhibit skewed XCI (SXCI), in which the vast majority cells have the same X chromosome inactivated. SXCI has serious health consequences, associated with conditions ranging from Alzheimer's to various autoimmune disorders. SXCI is also associated with outcomes of pregnancies, with higher rates of recurrent spontaneous abortion in women with SXCI...
October 30, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/29089420/genomic-imprinting-of-xist-by-maternal-h3k27me3
#19
Azusa Inoue, Lan Jiang, Falong Lu, Yi Zhang
Maternal imprinting at the Xist gene is essential to achieve paternal allele-specific imprinted X-chromosome inactivation (XCI) in female mammals. However, the mechanism underlying Xist imprinting is unclear. Here we show that the Xist locus is coated with a broad H3K27me3 domain that is established during oocyte growth and persists through preimplantation development in mice. Loss of maternal H3K27me3 induces maternal Xist expression and maternal XCI in preimplantation embryos. Our study thus identifies maternal H3K27me3 as the imprinting mark of Xist ...
October 1, 2017: Genes & Development
https://www.readbyqxmd.com/read/29079200/female-fabry-disease-patients-and-x-chromosome-inactivation
#20
Patrycja Juchniewicz, Anna Kloska, Anna Tylki-Szymańska, Joanna Jakóbkiewicz-Banecka, Grzegorz Węgrzyn, Marta Moskot, Magdalena Gabig-Cimińska, Ewa Piotrowska
Fabry disease is an X-linked inherited lysosomal storage disorder caused by mutations in the gene encoding α-galactosidase A (GLA). Once it was thought to affect only hemizygous males. Over the last fifteen years, research has shown that most females carrying mutated allele also develop symptoms, demonstrating a wide range of disease severity, from a virtually asymptomatic to more classical profile, with cardiac, renal, and cerebrovascular manifestations. This variable expression in females is thought to be influenced by the process of X-chromosome inactivation (XCI)...
January 30, 2018: Gene
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