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https://www.readbyqxmd.com/read/28806168/mapping-the-mouse-allelome-reveals-tissue-specific-regulation-of-allelic-expression
#1
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/28777483/skewed-x-inactivation-in-a-family-with-dlg3-associated-x-linked-intellectual-disability
#2
Laura Gieldon, Luisa Mackenroth, Elitza Betcheva-Krajcir, Andreas Rump, Stefanie Beck-Wödl, Jens Schallner, Nataliya Di Donato, Evelin Schröck, Andreas Tzschach
Mutations in DLG3 are a rare cause of non-syndromic X-linked intellectual disability (XLID) (MRX90, OMIM *300189). Only ten DLG3 mutations have been reported to date. The majority of female heterozygous mutation carriers was healthy and had random X-inactivation patterns. We report on an XLID family with a novel DLG3 mutation. The 12-year-old male index patient had moderate intellectual disability (ID) and dysmorphic features. The mutation was also present in four female relatives. A maternal aunt had moderate ID and significantly skewed X-inactivation favorably inactivating the normal DLG3 allele...
August 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28771462/a-tetrad-of-chromatin-interactions-for-chromosome-pairing-in-x-inactivation
#3
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/28767436/rnai-mediated-knockdown-of-parp1-does-not-improve-the-development-of-female-cloned-mouse-embryos
#4
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
#5
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
#6
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
#7
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/28711407/severe-neuroimaging-anomalies-are-usually-associated-with-random-x-inactivation-in-leucocytes-circulating-dna-in-x-linked-dominant-incontinentia-pigmenti
#8
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
#9
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/28702714/immunodeficiency-in-two-female-patients-with-incontinentia-pigmenti-with-heterozygous-nemo-mutation-diagnosed-by-lps-unresponsiveness
#10
Hidenori Ohnishi, Yuka Kishimoto, Tomohide Taguchi, Norio Kawamoto, Mina Nakama, Tomoki Kawai, Manabu Nakayama, Osamu Ohara, Kenji Orii, Toshiyuki Fukao
PURPOSE: Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) is caused by mutations in the NF-κB essential modulator (NEMO) or NF-κB inhibitor, alpha (IKBA) genes. A heterozygous NEMO mutation causes incontinentia pigmenti (IP) in females, while a hemizygous hypomorphic mutation of NEMO causes EDA-ID in males. In general, immunodeficiency is not shown in IP patients. Here, we investigated two female patients with IP and immunodeficiency. METHODS: The patients were initially suspected to have IRAK4 deficiency and Mendelian susceptibility to mycobacterial disease, respectively, because of recurrent pneumonia with delayed umbilical cord detachment or disseminated mycobacterial infectious disease...
July 12, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28692038/par-terra-directs-homologous-sex-chromosome-pairing
#11
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/28686623/xist-rna-repeat-e-is-essential-for-ash2l-recruitment-to-the-inactive-x-and-regulates-histone-modifications-and-escape-gene-expression
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/28662681/comparison-of-two-related-lines-of-taugfp-transgenic-mice-designed-for-lineage-tracing
#16
Linda Sharp, Thomas Pratt, Gillian E MacKay, Margaret A Keighren, Jean H Flockhart, Emma J Chandler, David J Price, John O Mason, John D West
BACKGROUND: The tauGFP reporter fusion protein is produced nearly ubiquitously by the TgTP6.3 transgene in TP6.3 mice and its localisation to microtubules offers some advantages over soluble GFP as a lineage marker. However, TgTP6.3 (Tg/Tg) homozygotes are not viable and TgTP6.3 (Tg/-) hemizygotes are smaller than wild-type. TP6.4 mice carry the TgTP6.4 transgene, which was produced with the same construct used to generate TgTP6.3, so we investigated whether TgTP6.4 had any advantages over TgTP6...
June 29, 2017: BMC Developmental Biology
https://www.readbyqxmd.com/read/28655780/dnmt3a-and-tet2-dominate-clonal-hematopoiesis-and-demonstrate-benign-phenotypes-and-different-genetic-predispositions
#17
Manuel Buscarlet, Sylvie Provost, Yassamin Feroz Zada, Amina Barhdadi, Vincent Bourgoin, Guylaine Lépine, Luigina Mollica, Natasha Szuber, Marie-Pierre Dubé, Lambert Busque
Age-associated clonal hematopoiesis caused by acquired mutations in myeloid cancer-associated genes is highly prevalent in the normal population. Its etiology, biological impact on hematopoiesis, and oncogenic risk is poorly defined at this time. To gain insight into this phenomenon, we analyzed a cohort of 2530 related and unrelated hematologically normal individuals (ages 55 to 101 years). We used a sensitive gene-targeted deep sequencing approach to gain precision on the exact prevalence of driver mutations and the proportions of affected genes...
August 10, 2017: Blood
https://www.readbyqxmd.com/read/28626639/a-non-mosaic-porcn-mutation-in-a-male-with-severe-congenital-anomalies-overlapping-focal-dermal-hypoplasia
#18
Simran Madan, Wei Liu, James T Lu, V Reid Sutton, Bryant Toth, Priscilla Joe, John R Waterson, Richard A Gibbs, Ignatia B Van den Veyver, Edward J Lammer, Philippe M Campeau, Brendan H Lee
Mutations in the PORCN gene cause the X-linked dominant condition focal dermal hypoplasia (FDH). Features of FDH include striated pigmentation of the skin, ocular and skeletal malformations. FDH is generally associated with in utero lethality in non-mosaic males and most of the currently reported male patients show mosaicism due to de novo post-zygotic mutations in the PORCN gene. There is only one previous report of a surviving male with an inherited mutation in the PORCN gene. Here, we report two male siblings with multiple malformations including skeletal, ocular and renal defects overlapping with FDH...
September 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28623283/dosage-compensation-in-the-process-of-inactivation-reactivation-during-both-germ-cell-development-and-early-embryogenesis-in-mouse
#19
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/28589176/arhgef9-disease-phenotype-clarification-and-genotype-phenotype-correlation
#20
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
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