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https://www.readbyqxmd.com/read/28817209/huntington-s-disease-a-clinical-review
#1
Peter McColgan, Sarah J Tabrizi
Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on chromosome 4. In Western populations HD has a prevalence of 10.6-13.7 individuals per 100,000. It is characterised by cognitive, motor and psychiatric disturbance. At the cellular level mutant huntingtin results in neuronal dysfunction and death through a number of mechanisms, including disruption of proteostasis, transcription and mitochondrial function and direct toxicity of the mutant protein...
August 17, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28811219/trinucleotide-repeat-containing-6c-tnrc6c-is-essential-for-microvascular-maturation-during-distal-airspace-sacculation-in-the-developing-lung
#2
Hua Guo, Yana Kazadaeva, Fabian E Ortega, Manjunath N Swamy, Tushar J Desai
GW182 (also known asTNRC6) family members are critically involved in the final effector phase of miRNA-mediated mRNA repression. The three mammalian paralogs, TNRC6a, b and c, are thought to be redundant based on Argonaute (Ago) binding, tethering assays, and RNAi silencing of individual members in cell lines. To test this idea, we generated TNRC6a, b and c knockout mice. TNRC6a mutants die at mid-gestation, while b- and c- deleted mice are born at a Mendelian ratio. However, the majority of TNRC6b and all TNRC6c mutants die within 24 hours after birth, the latter with respiratory failure...
August 12, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28810563/dystrophia-myotonica-type-1-presenting-with-dysarthria-a-case-report-and-literature-review
#3
Chunrong Li, Xiaoling Zhang, Chunkui Zhou, Lijun Zhu, Kangding Liu, Shaokuan Fang
Dystrophia myotonica (DM) type 1 is an autosomal dominant disorder, caused by a trinucleotide CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene (chromosome 19q13.3). The disorder affects different organ systems, including the skeletal muscles, ocular lens, lungs, heart and gastrointestinal tract, as well as the endocrine and central nervous systems. The skeletal muscles are most frequently involved, whereby the disorder manifests as myotonia, muscle weakness and amyotrophy...
August 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28807694/reviewing-evidence-for-systematic-transcriptional-deletions-nucleotide-exchanges-and-expanded-codons-and-peptide-clusters-in-human-mitochondria
#4
REVIEW
Hervé Seligmann
Polymerization sometimes transforms sequences by (a) systematic deletions of mono-, dinucleotides after trinucleotides, or (b) 23 systematic nucleotide exchanges (9 symmetric, X<>Y, e.g. G<>T, 14 asymmetric, X > Y > Z > X, e.g. A > G > T > A), producing del- and swinger RNAs. Some peptides correspond to del- and swinger RNA translations, also according to tetracodons, codons expanded by a silent nucleotide. Here new analyzes assume different proteolytic patterns, partially alleviating false negative peptide detection biases, expanding noncanonical mitoproteome profiles...
August 11, 2017: Bio Systems
https://www.readbyqxmd.com/read/28794481/a-pooled-mutational-analysis-identifies-ionizing-radiation-associated-mutational-signatures-conserved-between-mouse-and-human-malignancies
#5
Philip R Davidson, Amy L Sherborne, Barry Taylor, Alice O Nakamura, Jean L Nakamura
Single nucleotide variants (SNVs) identified in cancer genomes can be de-convolved using non-negative matrix factorization (NMF) into discrete trinucleotide-based mutational signatures indicative of specific cancer-causing processes. The stability of NMF-generated mutational signatures depends upon the numbers of variants available for analysis. In this work, we sought to assess whether data from well-controlled mouse models can compensate for scarce human data for some cancer types. High quality sequencing data from radiotherapy-induced cancers is particularly scarce and the mutational processes defining ionizing radiation (IR)-induced mutagenesis in vivo are poorly defined...
August 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28789621/tics-as-an-initial-manifestation-of-juvenile-huntington-s-disease-case-report-and-literature-review
#6
Shi-Shuang Cui, Ru-Jing Ren, Ying Wang, Gang Wang, Sheng-Di Chen
BACKGROUND: Huntington's disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical. CASE PRESENTATION: A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT gene (49 CAG repeats). After treatment, his symptoms improved. Furthermore, we performed literature review through searching the databases and summarized clinical features in 33 JHD patients...
August 8, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28780536/long-term-treatment-with-leuprorelin-for-spinal-and-bulbar-muscular-atrophy-natural-history-controlled-study
#7
Atsushi Hashizume, Masahisa Katsuno, Keisuke Suzuki, Akihiro Hirakawa, Yasuhiro Hijikata, Shinichiro Yamada, Tomonori Inagaki, Haruhiko Banno, Gen Sobue
OBJECTIVE: To evaluate the prognosis and progression of spinal and bulbar muscular atrophy (SBMA), a rare X-linked motor neuron disorder caused by trinucleotide repeat expansion in the AR (androgen receptor) gene, after long-term androgen suppression with leuprorelin acetate treatment. METHODS: In the present natural history-controlled study, 36 patients with SBMA treated with leuprorelin acetate for up to 84 months (leuprorelin acetate-treated group; LT group) and 29 patients with SBMA with no specific treatment (non-treated group; NT group) were analysed...
August 5, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28780071/myotonic-dystrophy-candidate-small-molecule-therapeutics
#8
REVIEW
Piotr Konieczny, Estela Selma-Soriano, Anna S Rapisarda, Juan M Fernandez-Costa, Manuel Perez-Alonso, Ruben Artero
Myotonic dystrophy type 1 (DM1) is a rare multisystemic neuromuscular disorder caused by expansion of CTG trinucleotide repeats in the noncoding region of the DMPK gene. Mutant DMPK transcripts are toxic and alter gene expression at several levels. Chiefly, the secondary structure formed by CUGs has a strong propensity to capture and retain proteins, like those of the muscleblind-like (MBNL) family. Sequestered MBNL proteins cannot then fulfill their normal functions. Many therapeutic approaches have been explored to reverse these pathological consequences...
August 2, 2017: Drug Discovery Today
https://www.readbyqxmd.com/read/28761142/methylation-profile-of-a-satellite-dna-constituting-the-intercalary-g-c-rich-heterochromatin-of-the-cut-trough-shell-spisula-subtruncata-bivalvia-mactridae
#9
Daniel García-Souto, Brankica Mravinac, Eva Šatović, Miroslav Plohl, Paloma Morán, Juan J Pasantes
Tandemly repeated DNAs usually constitute significant portions of eukaryotic genomes. In bivalves, however, repetitive DNAs are habitually not widespread. In our search for abundant repetitive DNAs in trough shells, we discovered a novel satellite DNA, SSUsat, which constitutes at least 1.3% of the genome of Spisula subtruncata. As foreseen by the satellite DNA library hypothesis, we confirmed that this satellite DNA is also present in two other Mactridae species, showing a highly conserved nucleotide sequence together with a dramatic diminution in the number of repeats...
July 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28755232/development-of-genomic-simple-sequence-repeats-ssr-by-enrichment-libraries-in-date-palm
#10
Sulieman A Al-Faifi, Hussein M Migdadi, Salem S Algamdi, Mohammad Altaf Khan, Rashid S Al-Obeed, Megahed H Ammar, Jerenj Jakse
Development of highly informative markers such as simple sequence repeats (SSR) for cultivar identification and germplasm characterization and management is essential for date palms genetic studies. The present study documents the development of SSR markers and assesses genetic relationships of commonly grown date palm (Phoenix dactylifera L.) cultivars in different geographical regions of Saudi Arabia. A total of 93 novel simple sequence repeat (SSR) markers were screened for their ability to detect polymorphism in date palm...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28753936/structural-insight-into-the-recognition-of-r-uag-by-musashi-1-rbd2-and-construction-of-a-model-of-musashi-1-rbd1-2-bound-to-the-minimum-target-rna
#11
Ryo Iwaoka, Takashi Nagata, Kengo Tsuda, Takao Imai, Hideyuki Okano, Naohiro Kobayashi, Masato Katahira
Musashi-1 (Msi1) controls the maintenance of stem cells and tumorigenesis through binding to its target mRNAs and subsequent translational regulation. Msi1 has two RNA-binding domains (RBDs), RBD1 and RBD2, which recognize r(GUAG) and r(UAG), respectively. These minimal recognition sequences are connected by variable linkers in the Msi1 target mRNAs, however, the molecular mechanism by which Msi1 recognizes its targets is not yet understood. We previously determined the solution structure of the Msi1 RBD1:r(GUAGU) complex...
July 19, 2017: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://www.readbyqxmd.com/read/28720120/interrogating-the-unsequenceable-genomic-trinucleotide-repeat-disorders-by-long-read-sequencing
#12
Qian Liu, Peng Zhang, Depeng Wang, Weihong Gu, Kai Wang
Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a number of genetic diseases. Sanger sequencing and next-generation short-read sequencing are unable to interrogate TRE reliably. We developed a novel algorithm called RepeatHMM to estimate repeat counts from long-read sequencing data. Evaluation on simulation data, real amplicon sequencing data on two repeat expansion disorders, and whole-genome sequencing data generated by PacBio and Oxford Nanopore technologies showed superior performance over competing approaches...
July 18, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28712500/use-of-zinc-finger-nucleases-for-crop-improvement
#13
John P Davies, Sandeep Kumar, Lakshmi Sastry-Dent
Over the past two decades, new technologies enabling targeted modification of plant genomes have been developed. Among these are zinc-finger nucleases (ZFNs) which are composed of engineered zinc-finger DNA-binding domains fused with a nuclease, generally the FokI nuclease. The zinc-finger domains are composed of a series of four to six 30 amino acid domains that can bind to trinucleotide sequences giving the entire DNA-binding domain specificity to 12-18 nucleotides. Since the FokI nuclease functions as a dimer, pairs of zinc-finger domains are designed to bind upstream and downstream of the cut site which increases the specificity of the complete ZFN to 24-36 nucleotides...
2017: Progress in Molecular Biology and Translational Science
https://www.readbyqxmd.com/read/28712006/an-inframe-trinucleotide-deletion-in-mtrr-exon-1-is-associated-with-the-risk-of-spina-bifida
#14
Jun Zhang, Xiao-Lu Dai, Gui-Cen Liu, Juan Wang, Xue-Yi Ren, Mu-Hua Jin, Nan-Nan Mi, Shu-Qin Wang
Maternal genetic variants of enzymes in folate-homocysteine metabolic network are significantly correlative with the risk of spina bifida. To survey the genetic causality, the genotypes of three women having spina bifida fetuses from two unrelated Chinese families were screened in candidate alleles. Polymerase chain reaction, capillary electrophoresis and Sanger sequencing were employed to recognize the allelic variation. A trinucleotide deletion (c.4_6delAGG) was identified in the first exon of MTRR. All the three women showed the novel clinical variation including one heterozygous and two homozygous...
July 15, 2017: Neuromolecular Medicine
https://www.readbyqxmd.com/read/28703879/precarious-maintenance-of-simple-dna-repeats-in-eukaryotes
#15
REVIEW
Alexander J Neil, Jane C Kim, Sergei M Mirkin
In this review, we discuss how two evolutionarily conserved pathways at the interface of DNA replication and repair, template switching and break-induced replication, lead to the deleterious large-scale expansion of trinucleotide DNA repeats that cause numerous hereditary diseases. We highlight that these pathways, which originated in prokaryotes, may be subsequently hijacked to maintain long DNA microsatellites in eukaryotes. We suggest that the negative mutagenic outcomes of these pathways, exemplified by repeat expansion diseases, are likely outweighed by their positive role in maintaining functional repetitive regions of the genome such as telomeres and centromeres...
July 13, 2017: BioEssays: News and Reviews in Molecular, Cellular and Developmental Biology
https://www.readbyqxmd.com/read/28700917/structure-and-dynamics-of-dna-and-rna-double-helices-of-cag-and-gac-trinucleotide-repeats
#16
Feng Pan, Viet Hoang Man, Christopher Roland, Celeste Sagui
CAG trinucleotide repeats are known to cause 10 late-onset progressive neurodegenerative disorders as the repeats expand beyond a threshold, whereas GAC repeats are associated with skeletal dysplasias and expand from the normal five to a maximum of seven repeats. The TR secondary structure is believed to play a role in CAG expansions. We have carried out free energy and molecular dynamics studies to determine the preferred conformations of the A-A noncanonical pairs in (CAG)n and (GAC)n trinucleotide repeats (n = 1, 4) and the consequent changes in the overall structure of the RNA and DNA duplexes...
July 11, 2017: Biophysical Journal
https://www.readbyqxmd.com/read/28690053/close-encounters-moving-along-bumps-breaks-and-bubbles-on-expanded-trinucleotide-tracts
#17
REVIEW
Aris A Polyzos, Cynthia T McMurray
Expansion of simple triplet repeats (TNR) underlies more than 30 severe degenerative diseases. There is a good understanding of the major pathways generating an expansion, and the associated polymerases that operate during gap filling synthesis at these "difficult to copy" sequences. However, the mechanism by which a TNR is repaired depends on the type of lesion, the structural features imposed by the lesion, the assembled replication/repair complex, and the polymerase that encounters it. The relationships among these parameters are exceptionally complex and how they direct pathway choice is poorly understood...
August 2017: DNA Repair
https://www.readbyqxmd.com/read/28688491/sequence-based-predictor-for-discrimination-of-enhancer-and-their-types-by-applying-general-form-of-chou-s-trinucleotide-composition
#18
Muhammad Tahir, Maqsood Hayat, Muhammad Kabir
BACKGROUND AND OBJECTIVES: Enhancers are pivotal DNA elements, which are widely used in eukaryotes for activation of transcription genes. On the basis of enhancer strength, they are further classified into two groups; strong enhancers and weak enhancers. Due to high availability of huge amount of DNA sequences, it is needed to develop fast, reliable and robust intelligent computational method, which not only identify enhancers but also determines their strength. Considerable progress has been achieved in this regard; however, timely and precisely identification of enhancers is still a challenging task...
July 2017: Computer Methods and Programs in Biomedicine
https://www.readbyqxmd.com/read/28685147/genotyping-the-high-altitude-mestizo-ecuadorian-population-affected-with-prostate-cancer
#19
REVIEW
Andrés López-Cortés, Alejandro Cabrera-Andrade, Carolina Salazar-Ruales, Ana Karina Zambrano, Santiago Guerrero, Patricia Guevara, Paola E Leone, César Paz-Y-Miño
Prostate cancer (PC) is the second most commonly diagnosed type of cancer in males with 1,114,072 new cases in 2015. The MTHFR enzyme acts in the folate metabolism, which is essential in methylation and synthesis of nucleic acids. MTHFR C677T alters homocysteine levels and folate assimilation associated with DNA damage. Androgens play essential roles in prostate growth. The SRD5A2 enzyme metabolizes testosterone and the V89L polymorphism reduces in vivo SRD5A2 activity. The androgen receptor gene codes for a three-domain protein that contains two polymorphic trinucleotide repeats (CAG, GGC)...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28683768/extrapolative-microrna-precursor-based-ssr-mining-from-tea-est-database-in-respect-to-agronomic-traits
#20
Anjan Hazra, Nirjhar Dasgupta, Chandan Sengupta, Sauren Das
Tea (Camellia sinensis, (L.) Kuntze) is considered as most popular drink across the world and it is widely consumed beverage for its several health-benefit characteristics. These positive traits primarily rely on its regulatory networks of different metabolic pathways. Development of microsatellite markers from the conserved genomic regions are being worthwhile for reviewing the genetic diversity of closely related species or self-pollinated species. Although several SSR markers have been reported, in tea, the trait-specific Simple Sequence Repeat (SSR) markers, leading to be useful in marker assisted breeding technique, are yet to be identified...
July 6, 2017: BMC Research Notes
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