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https://www.readbyqxmd.com/read/28435090/trinucleotide-repeat-expanded-and-normal-dmpk-transcripts-contain-unusually-long-poly-a-tails-despite-differential-nuclear-residence
#1
Anke E E G Gudde, Ingeborg D G van Kessel, Laurène M André, Bé Wieringa, Derick G Wansink
In yeast and higher eukaryotes nuclear retention of transcripts may serve in control over RNA decay, nucleocytoplasmic transport and premature cytoplasmic appearance of mRNAs. Hyperadenylation of RNA is known to be associated with nuclear retention, but the cause-consequence relationship between hyperadenylation and regulation of RNA nuclear export is still unclear. We compared polyadenylation status between normal and expanded DMPK transcripts in muscle cells and tissues derived from unaffected individuals and patients with myotonic dystrophy type 1 (DM1)...
April 18, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28433712/common-phox2b-poly-alanine-contractions-impair-ret-gene-transcription-predisposing-to-hirschsprung-disease
#2
Eleonora Di Zanni, Annalisa Adamo, Elga Belligni, Margherita Lerone, Giuseppe Martucciello, Girolamo Mattioli, Alessio Pini Prato, Roberto Ravazzolo, Margherita Silengo, Tiziana Bachetti, Isabella Ceccherini
HSCR is a congenital disorder of the enteric nervous system, characterized by the absence of neurons along a variable length of the gut resulting from loss-of-function RET mutations. Congenital Central Hypoventilation Syndrome (CCHS) is a rare neurocristopathy characterized by impaired response to hypercapnia and hypoxemia caused by heterozygous mutations of the PHOX2B gene, mostly polyalanine (polyA) expansions but also missense, nonsense, and frameshift mutations, while polyA contractions are common in the population and believed neutral...
April 19, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28420220/the-maximal-c%C3%A2-self-complementary-trinucleotide-circular-code-x-in-genes-of-bacteria-archaea-eukaryotes-plasmids-and-viruses
#3
Christian J Michel
In 1996, a set X of 20 trinucleotides was identified in genes of both prokaryotes and eukaryotes which has on average the highest occurrence in reading frame compared to its two shifted frames. Furthermore, this set X has an interesting mathematical property as X is a maximal C 3 self-complementary trinucleotide circular code. In 2015, by quantifying the inspection approach used in 1996, the circular code X was confirmed in the genes of bacteria and eukaryotes and was also identified in the genes of plasmids and viruses...
April 18, 2017: Life
https://www.readbyqxmd.com/read/28412438/torsional-stress-promotes-trinucleotidic-expansion-in-spermatids
#4
Olivier Simard, Seyedeh Raheleh Niavarani, Virginie Gaudreault, Guylain Boissonneault
Trinucleotide repeats are involved in various neurodegenerative diseases and are highly unstable both in dividing or non-dividing cells. In Huntington disease (HD), the age of onset of symptoms is inversely correlated to the number of CAG repeats within exon 1 of the HTT gene. HD shows paternal anticipation as CAG repeats are increased during spermatogenesis. CAG expansion were indeed found to be generated during the chromatin remodeling in spermatids where most histones are evicted and replaced by protamines...
April 9, 2017: Mutation Research
https://www.readbyqxmd.com/read/28408391/lmna-associated-partial-lipodystrophy-anticipation-of-metabolic-complications
#5
Isabelle Jeru, Camille Vatier, Marie-Christine Vantyghem, Olivier Lascols, Corinne Vigouroux
BACKGROUND: Type-2 familial partial lipodystrophy (FPLD2) is a rare autosomal dominant lipodystrophic disorder due to mutations in LMNA encoding lamin A/C, a key epigenetic regulator. FPLD2 severity is determined by the occurrence of metabolic complications, especially diabetes and hypertriglyceridaemia. We evaluated the disease history and severity over generations. METHODS: This retrospective study of the largest cohort of patients with FPLD2 reported to date investigates 85 patients from 24 families comprising three generations (G1: n=39; G2: n=41; G3: n=5)...
April 13, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28396681/evolution-of-nucleotide-punctuation-marks-from-structural-to-linear-signals
#6
Nawal El Houmami, Hervé Seligmann
We present an evolutionary hypothesis assuming that signals marking nucleotide synthesis (DNA replication and RNA transcription) evolved from multi- to unidimensional structures, and were carried over from transcription to translation. This evolutionary scenario presumes that signals combining secondary and primary nucleotide structures are evolutionary transitions. Mitochondrial replication initiation fits this scenario. Some observations reported in the literature corroborate that several signals for nucleotide synthesis function in translation, and vice versa...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28395798/generation-of-induced-pluripotent-stem-cells-from-a-patient-with-spinocerebellar-ataxia-type-3
#7
Bing-Wen Soong, Shih-Han Syu, Cheng-Hao Wen, Hui-Wen Ko, Mei-Ling Wu, Patrick C H Hsieh, Shiaw-Min Hwang, Huai-En Lu
Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a trinucleotide repeat (CAG) expansion in the coding region of ATXN3 gene resulting in production of ataxin-3 with an elongated polyglutamine tract. Here, we generated induced pluripotent stem cells (iPSCs) from the peripheral blood mononuclear cells of a male patient with SCA3 by using the Sendai-virus delivery system. The resulting iPSCs had a normal karyotype, retained the disease-causing ATXN3 mutation, expressed pluripotent markers and could differentiate into the three germ layers...
January 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28392157/context-and-complexity-analyzing-methylation-in-trinucleotide-sequences
#8
Xianwei Song, Xiaofeng Cao
Cytosine methylation in plants occurs in the mCG, mCHG, and mCHH (where H = A, T, or C) sequence contexts and specific pathways maintain methylation in each one. A recent publication revealed that substantial heterogeneity of methylated cytosine levels exists in the CHG/CHH trinucleotide contexts, which is associated with chromomethyltranferase functions in the maintenance of methylation.
April 6, 2017: Trends in Plant Science
https://www.readbyqxmd.com/read/28391068/abnormal-trajectories-in-cerebellum-and-brainstem-volumes-in-carriers-of-the-fragile-x-premutation
#9
Jun Yi Wang, David Hessl, Randi J Hagerman, Tony J Simon, Flora Tassone, Emilio Ferrer, Susan M Rivera
Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder typically affecting male premutation carriers with 55-200 CGG trinucleotide repeat expansions in the FMR1 gene after age 50. The aim of this study was to examine whether cerebellar and brainstem changes emerge during development or aging in late life. We retrospectively analyzed magnetic resonance imaging scans from 322 males (age 8-81 years). Volume changes in the cerebellum and brainstem were contrasted with those in the ventricles and whole brain...
March 18, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/28377290/synaptopathic-mechanisms-of-neurodegeneration-and-dementia-insights-from-huntington-s-disease
#10
REVIEW
Shiraz Tyebji, Anthony J Hannan
Dementia encapsulates a set of symptoms that include loss of mental abilities such as memory, problem solving or language, and reduces a person's ability to perform daily activities. Alzheimer's disease is the most common form of dementia, however dementia can also occur in other neurological disorders such as Huntington's disease (HD). Many studies have demonstrated that loss of neuronal cell function manifests pre-symptomatically and thus is a relevant therapeutic target to alleviate symptoms. Synaptopathy, the physiological dysfunction of synapses, is now being approached as the target for many neurological and psychiatric disorders, including HD...
April 1, 2017: Progress in Neurobiology
https://www.readbyqxmd.com/read/28373898/evaluation-of-in-vivo-mutagenesis-for-assessing-the-health-risk-of-air-pollutants
#11
REVIEW
Yasunobu Aoki
Various kind of chemical substances, including man-made chemical products and unintended products, are emitted to ambient air. Some of these substances have been shown to be mutagenic and therefore to act as a carcinogen in humans. National pollutant inventories (e.g., Pollutant Release and Transfer Registration in Japan) have estimated release amounts of man-made chemical products, but a major concern is the release of suspended particulate matter containing potent mutagens, for example, polycyclic aromatic hydrocarbons and related compounds generated by the combustion of fossil fuel, which are not estimated by PRTR system...
2017: Genes and Environment: the Official Journal of the Japanese Environmental Mutagen Society
https://www.readbyqxmd.com/read/28361972/pabpn1-gene-therapy-for-oculopharyngeal-muscular-dystrophy
#12
A Malerba, P Klein, H Bachtarzi, S A Jarmin, G Cordova, A Ferry, V Strings, M Polay Espinoza, K Mamchaoui, S C Blumen, J Lacau St Guily, V Mouly, M Graham, G Butler-Browne, D A Suhy, C Trollet, G Dickson
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disorder characterized by ptosis, swallowing difficulties, proximal limb weakness and nuclear aggregates in skeletal muscles. OPMD is caused by a trinucleotide repeat expansion in the PABPN1 gene that results in an N-terminal expanded polyalanine tract in polyA-binding protein nuclear 1 (PABPN1). Here we show that the treatment of a mouse model of OPMD with an adeno-associated virus-based gene therapy combining complete knockdown of endogenous PABPN1 and its replacement by a wild-type PABPN1 substantially reduces the amount of insoluble aggregates, decreases muscle fibrosis, reverts muscle strength to the level of healthy muscles and normalizes the muscle transcriptome...
March 31, 2017: Nature Communications
https://www.readbyqxmd.com/read/28351974/mutational-spectra-of-aflatoxin-b1-in-vivo-establish-biomarkers-of-exposure-for-human-hepatocellular-carcinoma
#13
Supawadee Chawanthayatham, Charles C Valentine, Bogdan I Fedeles, Edward J Fox, Lawrence A Loeb, Stuart S Levine, Stephen L Slocum, Gerald N Wogan, Robert G Croy, John M Essigmann
Aflatoxin B1 (AFB1) and/or hepatitis B and C viruses are risk factors for human hepatocellular carcinoma (HCC). Available evidence supports the interpretation that formation of AFB1-DNA adducts in hepatocytes seeds a population of mutations, mainly G:C→T:A, and viral processes synergize to accelerate tumorigenesis, perhaps via inflammation. Responding to a need for early-onset evidence predicting disease development, highly accurate duplex sequencing was used to monitor acquisition of high-resolution mutational spectra (HRMS) during the process of hepatocarcinogenesis...
April 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28334749/ctg-repeat-targeting-oligonucleotides-for-down-regulating-huntingtin-expression
#14
Eman M Zaghloul, Olof Gissberg, Pedro M D Moreno, Lee Siggens, Mattias Hällbrink, Anna S Jørgensen, Karl Ekwall, Rula Zain, Jesper Wengel, Karin E Lundin, C I Edvard Smith
Huntington's disease (HD) is a fatal, neurodegenerative disorder in which patients suffer from mobility, psychological and cognitive impairments. Existing therapeutics are only symptomatic and do not significantly alter the disease progression or increase life expectancy. HD is caused by expansion of the CAG trinucleotide repeat region in exon 1 of the Huntingtin gene (HTT), leading to the formation of mutant HTT transcripts (muHTT). The toxic gain-of-function of muHTT protein is a major cause of the disease...
February 17, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28297718/dnd1-maintains-germline-stem-cells-via-recruitment-of-the-ccr4-not-complex-to-target-mrnas
#15
Masashi Yamaji, Miki Jishage, Cindy Meyer, Hemant Suryawanshi, Evan Der, Misaki Yamaji, Aitor Garzia, Pavel Morozov, Sudhir Manickavel, Hannah L McFarland, Robert G Roeder, Markus Hafner, Thomas Tuschl
The vertebrate-conserved RNA-binding protein DND1 is required for the survival of primordial germ cells (PGCs), as well as the suppression of germ cell tumours in mice. Here we show that in mice DND1 binds a UU(A/U) trinucleotide motif predominantly in the 3' untranslated regions of mRNA, and destabilizes target mRNAs through direct recruitment of the CCR4-NOT deadenylase complex. Transcriptomic analysis reveals that the extent of suppression is dependent on the number of DND1-binding sites. This DND1-dependent mRNA destabilization is required for the survival of mouse PGCs and spermatogonial stem cells by suppressing apoptosis...
March 15, 2017: Nature
https://www.readbyqxmd.com/read/28292918/non-homologous-end-joining-with-minimal-sequence-loss-is-promoted-by-the-mre11-rad50-nbs1-ctp1-complex-in-schizosaccharomyces-pombe
#16
Yanhui Li, Jinyu Wang, Gang Zhou, Michael Lajeunesse, Nga Le, Brittany N Stawicki, Yalitza Lopez Corcino, Kathleen L Berkner, Kurt W Runge
While the Mre11-Rad50-Nbs1 (MRN) complex has known roles in repair processes like homologous recombination and microhomology-mediated end-joining, its role in non-homologous end-joining (NHEJ) is unclear as Saccharomyces cerevisiae, Schizosaccharomyces pombe and mammals have different requirements for repairing cut DNA ends. Most double-strand breaks (DSBs) require nucleolytic processing prior to DNA ligation. We therefore studied repair using the Hermes transposon, whose excision leaves a DSB capped by hairpin ends similar to structures generated by palindromes and trinucleotide repeats...
March 14, 2017: Genetics
https://www.readbyqxmd.com/read/28289517/retroviral-integrase-protein-and-intasome-nucleoprotein-complex-structures
#17
REVIEW
Julia Grawenhoff, Alan N Engelman
Retroviral replication proceeds through the integration of a DNA copy of the viral RNA genome into the host cellular genome, a process that is mediated by the viral integrase (IN) protein. IN catalyzes two distinct chemical reactions: 3'-processing, whereby the viral DNA is recessed by a di- or trinucleotide at its 3'-ends, and strand transfer, in which the processed viral DNA ends are inserted into host chromosomal DNA. Although IN has been studied as a recombinant protein since the 1980s, detailed structural understanding of its catalytic functions awaited high resolution structures of functional IN-DNA complexes or intasomes, initially obtained in 2010 for the spumavirus prototype foamy virus (PFV)...
February 26, 2017: World Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28282950/development%C3%A2-of%C3%A2-gene-based%C3%A2-ssr%C3%A2-markers%C3%A2-in%C3%A2-winged%C3%A2-bean%C3%A2-psophocarpus%C3%A2-tetragonolobus%C3%A2-l-%C3%A2-dc-%C3%A2-for%C3%A2-diversity%C3%A2-assessment
#18
Quin Nee Wong, Alberto Stefano Tanzi, Wai Kuan Ho, Sunir Malla, Martin Blythe, Asha Karunaratne, Festo Massawe, Sean Mayes
Winged bean (Psophocarpus tetragonolobus) is an herbaceous multipurpose legume grown in hot and humid countries as a pulse, vegetable (leaves and pods), or root tuber crop depending on local consumption preferences. In addition to its different nutrient-rich edible parts which could contribute to food and nutritional security, it is an efficient nitrogen fixer as a component of sustainable agricultural systems. Generating genetic resources and improved lines would help to accelerate the breeding improvement of this crop, as the lack of improved cultivars adapted to specific environments has been one of the limitations preventing wider use...
March 9, 2017: Genes
https://www.readbyqxmd.com/read/28282710/early-onset-friedreich-s-ataxia-with-oculomotor-apraxia
#19
Amene Saghazadeh, Sina Hafizi, Firouzeh Hosseini, Mahmoud Reza Ashrafi, Nima Rezaei
Friedreich's ataxia (FRDA) is a rare autosomal recessive spinocerebellar ataxia which in the majority of cases is associated with a GAA-trinucleotide repeat expansion in the first intron of Frataxin gene located on chromosome 9. The clinical features include progressive gait and limb ataxia, cerebellar dysarthria, neuropathy, optic atrophy, and loss of vibration and proprioception. Ataxia with ocular motor apraxia type 1 (AOA1) is another autosomal recessive cerebellar ataxia which is associated with oculomotor apraxia, hypoalbuminaemia, and hypercholesterolemia...
February 2017: Acta Medica Iranica
https://www.readbyqxmd.com/read/28278294/validation-of-a-commercially-available-test-that-enables-the-quantification-of-the-numbers-of-cgg-trinucleotide-repeat-expansion-in-fmr1-gene
#20
Grace X Y Lim, Minli Yeo, Yvonne Y Koh, Tri Indah Winarni, Indhu-Shree Rajan-Babu, Samuel S Chong, Sultana M H Faradz, Ming Guan
In the present study, we evaluated a commercially available TP-PCR-based assay, the FastFraXTM FMR1 Sizing kit, as a test in quantifying the number of CGG repeats in the FMR1 gene. Based on testing with well characterized DNA samples from Coriell, the kit yielded size results within 3 repeats of those obtained by common consensus (n = 14), with the exception of one allele. Furthermore, based on data obtained using all Coriell samples with or without common consensus (n = 29), the Sizing kit was 97.5% in agreement with existing approaches...
2017: PloS One
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