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https://www.readbyqxmd.com/read/29677349/repeat-associated-non-atg-ran-translation-in-fuchs-endothelial-corneal-dystrophy
#1
Elisabetta Soragni, Lina Petrosyan, Tommy A Rinkoski, Eric D Wieben, Keith H Baratz, Michael P Fautsch, Joel M Gottesfeld
Purpose: The strongest genetic association with Fuchs' endothelial corneal dystrophy (FECD) is the presence of an intronic (CTG·CAG)n trinucleotide repeat (TNR) expansion in the transcription factor 4 (TCF4) gene. Repeat-associated non-ATG (RAN) translation, an unconventional protein translation mechanism that does not require an initiating ATG, has been described in many TNR expansion diseases, including myotonic dystrophy type 1 (DM1). Given the similarities between DM1 and FECD, we wished to determine whether RAN translation occurs in FECD...
April 1, 2018: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/29670796/huntington-s-disease-in-a-patient-misdiagnosed-as-conversion-disorder
#2
João Machado Nogueira, Ana Margarida Franco, Susana Mendes, Anabela Valadas, Cristina Semedo, Gustavo Jesus
Huntington's disease (HD) is an inherited, progressive, and neurodegenerative neuropsychiatric disorder caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide in Interested Transcript (IT) 15 gene on chromosome 4. This pathology typically presents in individuals aged between 30 and 50 years and the age of onset is inversely correlated with the length of the CAG repeat expansion. It is characterized by chorea, cognitive deficits, and psychiatric symptoms. Usually the psychiatric disorders precede motor and cognitive impairment, Major Depressive Disorder and anxiety disorders being the most common presentations...
2018: Case Reports in Psychiatry
https://www.readbyqxmd.com/read/29666341/genetic-testing-for-clinically-suspected-spinocerebellar-ataxias-report-from-a-tertiary-referral-centre-in-india
#3
Sowmya Devatha Venkatesh, Mahesh Kandasamy, Nagaraj S Moily, Radhika Vaidyanathan, Lakshmi Narayanan Kota, Syama Adhikarla, Ravi Yadav, Pramod Kumar Pal, Sanjeev Jain, Meera Purushottam
Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative syndromes, characterized by a wide range of muscular weakness and motor deficits, caused due to cerebellar degeneration. The prevalence of the syndromes of SCA varies across the world and is known to be linked to the instability of trinucleotide repeats within the high-end normal alleles, along with susceptible haplotype. We estimated sizes of the CAG or GAA repeat expansions at the SCA1, SCA2, SCA3, SCA12 and frataxin loci among 864 referrals of subjects to genetic counselling and testing (GCAT) clinic, National Institute of Mental Health and Neurosciences, Bengaluru, India, with suspected SCA...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29665996/analysis-of-atxn2-trinucleotide-repeats-in-korean-patients-with-amyotrophic-lateral-sclerosis
#4
Young-Eun Kim, Ki-Wook Oh, Min-Young Noh, Jinseok Park, Hee-Jung Kim, Jong Eun Park, Chang-Seok Ki, Seung Hyun Kim
ATXN2 intermediate-length trinucleotide repeat expansions have been reported as a risk factor for amyotrophic lateral sclerosis (ALS) in various ethnicities. We tried to confirm this finding in Korean patients with ALS by screening ATXN2 cytosine-adenine-guanine nucleotide sequences (CAG) repeat lengths in 464 unrelated ALS patients and 703 controls. The most common and the highest CAG repeat lengths in the controls were 22 and 28, respectively, whereas those in ALS patients were 22 and 33, respectively. The frequency of CAG repeat lengths of 30 or more was significantly different between the 2 groups after Bonferroni correction (1...
March 23, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29651271/genetics-modulate-gray-matter-variation-beyond-disease-burden-in-prodromal-huntington-s-disease
#5
Jingyu Liu, Jennifer Ciarochi, Vince D Calhoun, Jane S Paulsen, H Jeremy Bockholt, Hans J Johnson, Jeffrey D Long, Dongdong Lin, Flor A Espinoza, Maria B Misiura, Arvind Caprihan, Jessica A Turner
Huntington's disease (HD) is a neurodegenerative disorder caused by an expansion mutation of the cytosine-adenine-guanine (CAG) trinucleotide in the HTT gene. Decline in cognitive and motor functioning during the prodromal phase has been reported, and understanding genetic influences on prodromal disease progression beyond CAG will benefit intervention therapies. From a prodromal HD cohort ( N  = 715), we extracted gray matter (GM) components through independent component analysis and tested them for associations with cognitive and motor functioning that cannot be accounted for by CAG-induced disease burden (cumulative effects of CAG expansion and age)...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29643862/comprehensive-characterization-of-simple-sequence-repeats-in-eggplant-solanum-melongena-l-genome-and-construction-of-a-web-resource
#6
Ezio Portis, Sergio Lanteri, Lorenzo Barchi, Flavio Portis, Luisa Valente, Laura Toppino, Giuseppe L Rotino, Alberto Acquadro
We have characterized the simple sequence repeat (SSR) markers of the eggplant ( Solanum melongena ) using a recent high quality sequence of its whole genome. We found nearly 133,000 perfect SSRs, a density of 125.5 SSRs/Mbp, and also about 178,400 imperfect SSRs. Of the perfect SSRs, 15.6% were complex, with two stretches of repeats separated by an intervening block of <100 nt. Di- and trinucleotide SSRs accounted, respectively, for 43 and 37% of the total. The SSRs were classified according to their number of repeats and overall length, and were assigned to their linkage group...
2018: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29622765/identification-of-genomic-aberrations-associated-with-lymph-node-metastasis-in-diffuse-type-gastric-cancer
#7
Ji-Hye Choi, Young-Bae Kim, Ji Mi Ahn, Min Jae Kim, Won Jung Bae, Sang-Uk Han, Hyun Goo Woo, Dakeun Lee
Diffuse-type gastric cancer (DGC) is a GC subtype with heterogeneous clinical outcomes. Lymph node metastasis of DGC heralds a dismal progression, which hampers the curative treatment of patients. However, the genomic heterogeneity of DGC remains unknown. To identify genomic variations associated with lymph node metastasis in DGC, we performed whole exome sequencing on 23 cases of DGC and paired non-tumor tissues and compared the mutation profiles according to the presence (N3, n = 13) or absence (N0, n = 10) of regional lymph node metastasis...
April 6, 2018: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29617130/structure-and-dynamics-of-dna-and-rna-double-helices-obtained-from-the-ccg-and-ggc-trinucleotide-repeats
#8
Feng Pan, Viet Hoang Man, Christopher Roland, Celeste Sagui
Expansions of both GGC and CCG sequences lead to a number of expandable, trinucleotide repeat (TR) neurodegenerative diseases. Understanding of these diseases involves, among other things, the structural characterization of the atypical DNA and RNA secondary structures. We have performed molecular dynamics simulations of (GCC)_n and (GGC)_n homoduplexes in order to characterize their conformations, stability and dynamics. Each TR has two reading frames, which results in eight non-equivalent RNA/DNA homoduplexes, characterized by CpG or GpC steps between the Watson-Crick basepairs...
April 4, 2018: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/29615482/defining-essential-elements-and-genetic-interactions-of-the-yeast-lsm2-8-ring-and-demonstration-that-essentiality-of-lsm2-8-is-bypassed-via-overexpression-of-u6-snrna-or-the-u6-snrnp-subunit-prp24
#9
Allen J Roth, Stewart Shuman, Beate Schwer
A seven-subunit Lsm2-8 protein ring assembles on the U-rich 3' end of the U6 snRNA. A structure-guided mutational analysis of the Saccharomyces cerevisiae Lsm2-8 ring affords new insights to structure-function relations and genetic interactions of the Lsm subunits. Alanine scanning of 39 amino acids comprising the RNA-binding sites or inter-subunit interfaces of Lsm2, Lsm3, Lsm4, Lsm5, and Lsm8 identified only one instance of lethality (Lsm3-R69A) and one severe growth defect (Lsm2-R63A), both involving amino acids that bind the 3'-terminal UUU trinucleotide...
April 3, 2018: RNA
https://www.readbyqxmd.com/read/29610297/intron-retention-induced-by-microsatellite-expansions-as-a-disease-biomarker
#10
Łukasz J Sznajder, James D Thomas, Ellie M Carrell, Tammy Reid, Karen N McFarland, John D Cleary, Ruan Oliveira, Curtis A Nutter, Kirti Bhatt, Krzysztof Sobczak, Tetsuo Ashizawa, Charles A Thornton, Laura P W Ranum, Maurice S Swanson
Expansions of simple sequence repeats, or microsatellites, have been linked to ∼30 neurological-neuromuscular diseases. While these expansions occur in coding and noncoding regions, microsatellite sequence and repeat length diversity is more prominent in introns with eight different trinucleotide to hexanucleotide repeats, causing hereditary diseases such as myotonic dystrophy type 2 (DM2), Fuchs endothelial corneal dystrophy (FECD), and C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (C9-ALS/FTD)...
April 2, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29564144/spinocerebellar-ataxia-17-full-phenotype-in-a-41-cag-caa-repeats-carrier
#11
Paola Origone, Fabio Gotta, Merit Lamp, Lucia Trevisan, Alessandro Geroldi, Davide Massucco, Matteo Grazzini, Federico Massa, Flavia Ticconi, Matteo Bauckneht, Roberta Marchese, Giovanni Abbruzzese, Emilia Bellone, Paola Mandich
Background: Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can mimic other movement disorders such as Huntington disease (HD), dystonia and parkinsonism. SCA17 is caused by an expansion of CAG/CAA repeat in the Tata binding protein ( TBP ) gene. Normal alleles contain 25 to 40 CAG/CAA repeats, alleles with 50 or greater CAG/CAA repeats are pathological with full penetrance. Alleles with 43 to 49 CAG/CAA repeats were also reported and their penetrance is estimated between 50 and 80%...
2018: Cerebellum & Ataxias
https://www.readbyqxmd.com/read/29556396/longer-trinucleotide-repeats-of-androgen-receptor-are-associated-with-higher-testosterone-and-low-oxytocin-levels-in-diabetic-premature-ejaculatory-dysfunction-patients
#12
Haroon Latif Khan, Shahzad Bhatti, Sana Abbas, Yousaf Latif Khan, Rosa Maria Marquez Gonzalez, Muhammad Aslamkhan, Gerardo Rodriguez Gonzalez, Hikmet Hakan Aydin
Background: Despite its worldwide high occurrence, the obscurity regarding the description, epidemiology and management of premature ejaculation remains provocative. It is well established that male premature ejaculatory dysfunction is an increasing problem due to spontaneous ejaculation across a variety of general and clinical subjects. The main goal of this study was to determine the relationships between trinucleotide repeats of the androgen receptor (AR), sex steroids, and pituitary hormones with sexual function in men with type 2 diabetes mellitus (DM) and reported with acquired premature ejaculation (PE)...
2018: Basic and Clinical Andrology
https://www.readbyqxmd.com/read/29532441/self-complementary-circular-codes-in-coding-theory
#13
Elena Fimmel, Christian J Michel, Martin Starman, Lutz Strüngmann
Self-complementary circular codes are involved in pairing genetic processes. A maximal [Formula: see text] self-complementary circular code X of trinucleotides was identified in genes of bacteria, archaea, eukaryotes, plasmids and viruses (Michel in Life 7(20):1-16 2017, J Theor Biol 380:156-177, 2015; Arquès and Michel in J Theor Biol 182:45-58 1996). In this paper, self-complementary circular codes are investigated using the graph theory approach recently formulated in Fimmel et al. (Philos Trans R Soc A 374:20150058, 2016)...
March 12, 2018: Theory in Biosciences, Theorie in Den Biowissenschaften
https://www.readbyqxmd.com/read/29526280/antisense-therapy-for-a-common-corneal-dystrophy-ameliorates-tcf4-repeat-expansion-mediated-toxicity
#14
Christina Zarouchlioti, Beatriz Sanchez-Pintado, Nathaniel J Hafford Tear, Pontus Klein, Petra Liskova, Kalyan Dulla, Ma'ayan Semo, Anthony A Vugler, Kirithika Muthusamy, Lubica Dudakova, Hannah J Levis, Pavlina Skalicka, Pirro Hysi, Michael E Cheetham, Stephen J Tuft, Peter Adamson, Alison J Hardcastle, Alice E Davidson
Fuchs endothelial corneal dystrophy (FECD) is a common disease for which corneal transplantation is the only treatment option in advanced stages, and alternative treatment strategies are urgently required. Expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD in our large cohort of affected individuals. An FECD subject-derived corneal endothelial cell (CEC) model was developed to probe disease mechanism and investigate therapeutic approaches. The CEC model demonstrated that the repeat expansion leads to nuclear RNA foci, with the sequestration of splicing factor proteins (MBNL1 and MBNL2) to the foci and altered mRNA processing...
March 1, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29520304/preparation-of-trinucleotide-phosphoramidites-as-synthons-for-the-synthesis-of-gene-libraries
#15
REVIEW
Ruth Suchsland, Bettina Appel, Sabine Müller
The preparation of protein libraries is a key issue in protein engineering and biotechnology. Such libraries can be prepared by a variety of methods, starting from the respective gene library. The challenge in gene library preparation is to achieve controlled total or partial randomization at any predefined number and position of codons of a given gene, in order to obtain a library with a maximum number of potentially successful candidates. This purpose is best achieved by the usage of trinucleotide synthons for codon-based gene synthesis...
2018: Beilstein Journal of Organic Chemistry
https://www.readbyqxmd.com/read/29515789/mutational-landscape-of-radiation-associated-angiosarcoma-of-the-breast
#16
Bryan J Thibodeau, Vincent Lavergne, Nayana Dekhne, Pamela Benitez, Mitual Amin, Samreen Ahmed, Jean L Nakamura, Philip R Davidson, Alice O Nakamura, Inga S Grills, Peter Y Chen, Jessica Wobb, George D Wilson
Purpose: Radiation-associated breast angiosarcomas are a rare complication of radiation therapy for breast carcinoma. With relatively little is known about the genetic abnormalities present in these secondary tumors, we examined genomic variation in biospecimens from radiation-associated breast angiosarcomas. Experimental Design: Patients were identified that had a previous breast cancer diagnosis, received radiation therapy, and developed angiosarcoma in the ipsilateral breast as the earlier cancer...
February 9, 2018: Oncotarget
https://www.readbyqxmd.com/read/29506378/reducing-mutant-huntingtin-protein-expression-in-living-cells-by-a-newly-identified-rna-cag-binder
#17
Frank Matthes, Serena Massari, Anna Bochicchio, Kenji Schorpp, Judith Schilling, Stephanie Weber, Nina Offermann, Jenny Desantis, Erich E Wanker, Paolo Carloni, Kamyar Hadian, Oriana Tabarrini, Giulia Rossetti, Sybille Krau Szlig
Expanded CAG trinucleotide repeats in Huntington's disease (HD) are causative for neurotoxicity. Not only does the mutant CAG-repeat RNA encode for neurotoxic polyglutamine proteins, but also it can lead to a toxic gain-of-function by aberrantly recruiting RNA-binding proteins. One of these is the MID1 protein, which induces aberrant Huntingtin (HTT) protein translation upon binding. Here we have identified a set of CAG repeat binder candidates by in silico methods. One of those, furamidine, reduces the binding of HTT mRNA to MID1 and other target proteins in vitro...
March 5, 2018: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29484820/comparative-analyses-of-simple-sequence-repeats-ssrs-in-23-mosquito-species-genomes-identification-characterization-and-distribution-diptera-culicidae
#18
Xiao-Ting Wang, Yu-Juan Zhang, Liang Qiao, Bin Chen
Simple sequence repeats (SSRs) exist in both eukaryotic and prokaryotic genomes and are the most popular genetic markers, but the SSRs of mosquito genomes are still not well understood. In this study, we identified and analyzed the SSRs in 23 mosquito species using Drosophila melanogaster as reference at the whole-genome level. The results show that SSR numbers (33 076-560 175/genome) and genome sizes (574.57-1342.21 Mb) are significantly positively correlated (R2 = 0.8992, P < 0.01), but the correlation in individual species varies in these mosquito species...
February 27, 2018: Insect Science
https://www.readbyqxmd.com/read/29474673/genetic-instability-associated-with-loop-or-stem-loop-structures-within-transcription-units-can-be-independent-of-nucleotide-excision-repair
#19
John A Burns, Moinuddin A Chowdhury, Laura Cartularo, Christian Berens, David A Scicchitano
Simple sequence repeats (SSRs) are found throughout the genome, and under some conditions can change in length over time. Germline and somatic expansions of trinucleotide repeats are associated with a series of severely disabling illnesses, including Huntington's disease. The underlying mechanisms that effect SSR expansions and contractions have been experimentally elusive, but models suggesting a role for DNA repair have been proposed, in particular the involvement of transcription-coupled nucleotide excision repair (TCNER) that removes transcription-blocking DNA damage from the transcribed strand of actively expressed genes...
February 21, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29466740/talen-induced-double-strand-break-repair-of-ctg-trinucleotide-repeats
#20
Valentine Mosbach, Lucie Poggi, David Viterbo, Marine Charpentier, Guy-Franck Richard
Trinucleotide repeat expansions involving CTG/CAG triplets are responsible for several neurodegenerative disorders, including myotonic dystrophy and Huntington's disease. Because expansions trigger the disease, contracting repeat length could be a possible approach to gene therapy for these disorders. Here, we show that a TALEN-induced double-strand break was very efficient at contracting expanded CTG repeats in yeast. We show that RAD51, POL32, and DNL4 are dispensable for double-strand break repair within CTG repeats, the only required genes being RAD50, SAE2, and RAD52...
February 20, 2018: Cell Reports
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