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Chaitali Misra, Feikai Lin, Auinash Kalsotra
RNA metabolism impacts different steps of mRNA life cycle including splicing, polyadenylation, nucleo-cytoplasmic export, translation, and decay. Growing evidence indicates that defects in any of these steps lead to devastating diseases in humans. This chapter reviews the various RNA metabolic mechanisms that are disrupted in Myotonic Dystrophy-a trinucleotide repeat expansion disease-due to dysregulation of RNA-Binding Proteins. We also compare Myotonic Dystrophy to other microsatellite expansion disorders and describe how some of these mechanisms commonly exert direct versus indirect effects toward disease pathologies...
2018: Advances in Neurobiology
Antony Crisp, Thomas Carell
An artificially evolved ribozyme can catalyse the synthesis of RNA by using trinucleotide triphosphates as building blocks.
June 15, 2018: ELife
Ricardo Mondragon-Gonzalez, Rita C R Perlingeiro
Myotonic Dystrophy 1 (DM1) is a multi-system disorder primarily affecting the central nervous system, heart and skeletal muscle. It is caused by an expansion of the CTG trinucleotide repeats in the 3' untranslated region of the DMPK gene. Although patient myoblasts have been used for studying the disease in vitro , the invasiveness as well as the low accessibility to muscle biopsies motivate the development of alternative reliable myogenic models. Here, we established two DM1 iPS cell lines from patient-derived fibroblasts, and using the PAX7 conditional expression system, differentiated these into myogenic progenitors, and subsequently, terminally differentiated myotubes...
June 13, 2018: Disease Models & Mechanisms
Peter A Mollica, Martina Zamponi, John A Reid, Deepak K Sharma, Alyson E White, Roy C Ogle, Robert D Bruno, Patrick C Sachs
Huntington's disease (HD) is a rare autosomal dominant neurodegenerative disorder caused by a cytosine-adenine-guanine (CAG) trinucleotide repeat (TNR) expansion within the HTT gene. The mechanisms underlying HD-associated cellular dysfunction during pluripotency and neurodevelopment, are poorly understood. Here we tested the hypothesis that hypomethylation during cellular reprogramming leads to up-regulation of DNA repair genes and stabilization of TNRs in HD cells. We sought to determine how the HD TNR region is affected by global epigenetic changes through cellular reprogramming and early neurodifferentiation...
June 13, 2018: Journal of Cell Science
Se Won Kang, Bharat Bhusan Patnaik, So Young Park, Hee-Ju Hwang, Jong Min Chung, Min Kyu Sang, Hye Rin Min, Jie Eun Park, Jiyeon Seong, Yong Hun Jo, Mi Young Noh, Jong Dae Lee, Ki Yoon Jung, Hong Seog Park, Yeon Soo Han, Jun Sang Lee, Yong Seok Lee
Ellobium chinense (Pfeiffer, 1854) is a brackish pulmonate species that inhabits the bases of mangrove trees and is most commonly found in salt grass meadows. Threats to mangrove ecosystems due to habitat degradation and overexploitation have threatened the species with extinction. In South Korea, E. chinense has been assessed as vulnerable, but there are limited data on its population structure and distribution. The nucleotide and protein sequences for this species are not available in databases, which limits the understanding of adaptation-related traits...
April 2018: Genes & Genomics
Morgane Sonia Thion, Sandrine Humbert
Huntingtin (HTT) is a scaffold protein mostly known because it gives rise to the severe and incurable inherited neurological disorder Huntington's disease (HD) when mutated. The Huntingtin gene (HTT) carries a polymorphic trinucleotide expansion of CAGs in exon 1 that ranges from 9 to 35 in the non-HD affected population. However, if it exceeds 35 CAG repeats, the altered protein is referred to as mutant HTT and leads to the development of HD. Given the wide spectrum of severe symptoms developed by HD individuals, wild-type and mutant HTT have been mostly studied in the context of this disorder...
June 4, 2018: Journal of Huntington's Disease
Mohammad Hadigol, Hossein Khiabanian
BACKGROUND: Rapid progress in high-throughput sequencing (HTS) and the development of novel library preparation methods have improved the sensitivity of detecting mutations in heterogeneous samples, specifically in high-depth (> 500×) clinical applications. However, HTS methods are bounded by their technical and theoretical limitations and sequencing errors cannot be completely eliminated. Comprehensive quantification of the background noise can highlight both the efficiency and the limitations of any HTS methodology, and help differentiate true mutations at low abundance from artifacts...
June 8, 2018: BMC Bioinformatics
Wen Zhou, Bin Li, Lin Li, Wen Ma, Yuanchu Liu, Shuchao Feng, Zhezhi Wang
Dioscorea zingiberensis (Dioscoreceae) is the main plant source of diosgenin (steroidal sapogenins), the precursor for the production of steroid hormones in the pharmaceutical industry. Despite its large economic value, genomic information of this Dioscorea genus is currently unavailable. Here, we present an initial survey of the D. zingiberensis genome performed by next-generation sequencing technology together with a genome size investigation inferred by flow cytometry. The whole genome survey of D. zingiberensis generated 31...
June 8, 2018: Genome Génome / Conseil National de Recherches Canada
Kritika Raj, Surajit Sarkar
Polyglutamine [poly(Q)] disorders are a class of trinucleotide repeat expansion neurodegenerative disorders which are dominantly inherited and progressively acquired with age. This group of disorders entail the characteristic formation of protein aggregates leading to widespread loss of neurons in different regions of the brain. SCA3 and HD, the two most commonly occurring types of poly(Q) disorders were examined in the present study. With the aim of elucidating novel genetic modifiers of poly(Q) disorders, the Drosophila insulin receptor (InR) was identified as a potential suppressor of poly(Q)-induced neurotoxicity and degeneration...
June 7, 2018: Molecular Neurobiology
Tomonori Shibata, Kazuhiko Nakatani
We have reported bicyclic and tricyclic C-C mismatch-binding ligands that selectively bind to CCG trinucleotide repeat (TNR) DNAs. Bivalent interaction and enlarging the aromatic ring system of the cytosine-recognition unit led to the ligand binding to CCG TNRs accompanied by the formation of stable ligand-CCG TNR complexes and a large conformational change.
June 7, 2018: Chemical Communications: Chem Comm
Chunchen Xiang, Shun Zhang, Xiaoyu Dong, Shuang Ma, Shuyan Cong
Polyglutamine (polyQ) diseases are hereditary neurodegenerative disorders caused by an abnormal expansion of a trinucleotide CAG repeat in the coding region of their respective associated genes. PolyQ diseases mainly display progressive degeneration of the brain and spinal cord. Nine polyQ diseases are known, including Huntington's disease (HD), spinal and bulbar muscular atrophy (SBMA), dentatorubral-pallidoluysian atrophy (DRPLA), and six forms of spinocerebellar ataxia (SCA). HD is the best characterized polyQ disease...
2018: Frontiers in Molecular Neuroscience
Shoji Kubo, Shigekazu Takemura, Shogo Tanaka, Hiroji Shinkawa, Masahiko Kinoshita, Genya Hamano, Tokuji Ito, Masaki Koda, Takanori Aota
A cluster of cholangiocarcinoma among printing company workers who were exposed to 1,2-dichloropropane and/or dichloromethane was classified by the Ministry of Health, Labour and Welfare of Japan on 1 October 2013 as "occupational cholangiocarcinoma". At the time of the diagnosis of cholangiocarcinoma, levels of γ-glutamyl transferase, and aspartate and alanine aminotransferases were elevated, and had been elevated in some patients several years prior to the diagnosis. Regional dilatation of intrahepatic bile ducts without tumor-induced obstruction was characteristic in diagnostic imaging...
March 2018: Annals of gastroenterological surgery
Vitaliy V Bondar, Carolyn J Adamski, Tarik S Onur, Qiumin Tan, Li Wang, Javier Diaz-Garcia, Jeehye Park, Harry T Orr, Juan Botas, Huda Y Zoghbi
Spinocerebellar ataxia type 1 (SCA1) is caused by the expansion of a trinucleotide repeat that encodes a polyglutamine tract in ataxin-1 (ATXN1). The expanded polygultamine in ATXN1 increases the protein's stability and results in its accumulation and toxicity. Previous studies have demonstrated that decreasing ATXN1 levels ameliorates SCA1 phenotypes and pathology in mouse models. We rationalized that reducing ATXN1 levels through pharmacological inhibition of its modulators could provide a therapeutic avenue for SCA1...
May 30, 2018: Human Molecular Genetics
D D O Martin, C Kay, J A Collins, Y T Nguyen, R A Slama, M R Hayden
Post-translational modifications (PTMs) are key modulators of protein function. Huntington disease (HD) is a dominantly inherited neurodegenerative disorder caused by an expanded CAG trinucleotide repeat in the huntingtin (HTT) gene. A spectrum of PTMs have been shown to modify the normal functions of HTT, including proteolysis, phosphorylation and lipidation, but the full contribution of these PTMs to the molecular pathogenesis of HD remains unclear. In this study, we examine all commonly occurring missense mutations in HTT to identify potential human modifiers of HTT PTMs relevant to HD biology...
May 25, 2018: Scientific Reports
Bhavna S Rao, Samdani Ansar, Tharigopala Arokiasamy, Rachapalli R Sudhir, Vetrivel Umashankar, Rama Rajagopal, Nagasamy Soumittra
BACKGROUND: Fuchs' endothelial corneal dystrophy (FECD) is a complex degenerative disease of the corneal endothelium with genetic predisposition. Pathogenic rare variants have been identified in SLC4A11, LOXHD1, ZEB1, and AGBL1. Association of single nucleotide polymorphisms (SNPs) and CTG trinucleotide repeat expansions in the intron of TCF4 gene to FECD has been studied across multiple ethnicities. Recently, genome-wide association studies have also identified KANK4, LAMC1, and ATP1B1 as novel loci for FECD...
May 25, 2018: Ophthalmic Genetics
Reda Zenagui, Delphine Lacourt, Henri Pegeot, Kevin Yauy, Raul Juntas Morales, Corine Theze, François Rivier, Claude Cances, Guilhem Sole, Dimitri Renard, Ulrike Walther-Louvier, Xavier Ferrer-Monasterio, Caroline Espil, Marie-Christine Arné-Bes, Pascal Cintas, Emmanuelle Uro-Coste, Marie-Laure Martin Negrier, Valérie Rigau, Eric Bieth, Cyril Goizet, Mireille Claustres, Michel Koenig, Mireille Cossée
Myopathies and muscular dystrophies (M-MDs) are genetically heterogeneous diseases, with more than 100 identified genes, including the giant and complex titin (TTN) and nebulin (NEB) genes. Next-generation sequencing technology revolutionized M-MD diagnosis and revealed high frequency of TTN and NEB variants. We developed a next-generation sequencing diagnostic strategy targeted on the coding sequences of 135 M-MD genes. Comparison of two targeted capture technologies (SeqCap EZ Choice library capture kit (Roche-Nimblegen) and Nextera Rapid Capture Custom Enrichment kit (Illumina)) and of two whole exome sequencing kits (SureSelect V5 (Agilent) and TruSeq RapidExome capture (Illumina)) revealed best coverage with the SeqCap EZ Choice protocol...
May 21, 2018: Journal of Molecular Diagnostics: JMD
Ji Young Yang, Jae-Hong Pak, Seung-Chul Kim
Previous phylogenetic studies have suggested that Rubus takesimensis (Rosaceae), which is endemic to Ulleung Island, Korea, is closely related to R. crataegifolius, which is broadly distributed across East Asia. A recent phylogeographic study also suggested the possible polyphyletic origins of R. takesimensis from multiple source populations of its continental progenitor R. crataegifolius in China, Japan, Korea, and the Russian Far East. However, even though the progenitor-derivative relationship between R...
May 19, 2018: Gene
Cornelius M Kyalo, Andrew W Gichira, Zhi-Zhong Li, Josphat K Saina, Itambo Malombe, Guang-Wan Hu, Qing-Feng Wang
Streptocarpus teitensis (Gesneriaceae) is an endemic species listed as critically endangered in the International Union for Conservation of Nature (IUCN) red list of threatened species. However, the sequence and genome information of this species remains to be limited. In this article, we present the complete chloroplast genome structure of Streptocarpus teitensis and its evolution inferred through comparative studies with other related species. S. teitensis displayed a chloroplast genome size of 153,207 bp, sheltering a pair of inverted repeats (IR) of 25,402 bp each split by small and large single-copy (SSC and LSC) regions of 18,300 and 84,103 bp, respectively...
2018: BioMed Research International
James Attwater, Aditya Raguram, Alexey S Morgunov, Edoardo Gianni, Philipp Holliger
RNA-catalyzed RNA replication is widely believed to have supported a primordial biology. However, RNA catalysis is dependent upon RNA folding, and this yields structures that can block replication of such RNAs. To address this apparent paradox we have re-examined the building blocks used for RNA replication. We report RNA-catalysed RNA synthesis on structured templates when using trinucleotide triphosphates (triplets) as substrates, catalysed by a general and accurate triplet polymerase ribozyme that emerged from in vitro evolution as a mutualistic RNA heterodimer...
May 15, 2018: ELife
Jennifer S Mascaro, Kelly E Rentscher, Patrick D Hackett, Adriana Lori, Alana Darcher, James K Rilling, Matthias R Mehl
OBJECTIVES: Testosterone (T) has an integral, albeit complex, relationship with social behavior, especially in the domains of aggression and competition. However, examining this relationship in humans is challenging given the often covert and subtle nature of human aggression and status-seeking. The present study aimed to investigate whether T levels and genetic polymorphisms in the AR gene are associated with social behavior assessed via natural language use. METHODS: We used unobtrusive, behavioral, real-world ambulatory assessments of men in partnered heterosexual relationships to examine the relationship between plasma T levels, variation in the androgen receptor (AR) gene, and spontaneous, everyday language in three interpersonal contexts: with romantic partners, with co-workers, and with their children...
May 11, 2018: American Journal of Human Biology: the Official Journal of the Human Biology Council
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