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https://www.readbyqxmd.com/read/29466740/talen-induced-double-strand-break-repair-of-ctg-trinucleotide-repeats
#1
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
https://www.readbyqxmd.com/read/29462355/small-molecule-modulator-of-protein-disulfide-isomerase-attenuates-mutant-huntingtin-toxicity-and-inhibits-endoplasmic-reticulum-stress-in-a-mouse-model-of-huntington-s-disease
#2
Xiao Zhou, Gang Li, Anna Kaplan, Michael M Gaschler, Xiaoyan Zhang, Zhipeng Hou, Jiang Mali, Roseann Zott, Serge Cremers, Brent R Stockwell, Wenzhen Duan
Huntington's disease (HD) is caused by a cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the huntingtin (HTT) gene encoding an elongated polyglutamine tract within the N-terminal of the Huntingtin protein (Htt) and leads to Htt misfolding, aberrant protein aggregation, and progressive appearance of disease symptoms. Chronic activation of endoplasmic reticulum (ER) stress by mutant Htt (mHtt) results in cellular dysfunction and ultimately cell death. Protein disulfide isomerase (PDI) is a chaperone protein located in the ER...
February 16, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29446201/transposable-elements-shape-the-human-proteome-landscape-via-formation-of-cis-acting-upstream-open-reading-frames
#3
Shohei Kitano, Hikaru Kurasawa, Yasunori Aizawa
Transposons are major drivers of mammalian genome evolution. To obtain new insights into the contribution of transposons to the regulation of protein translation, we here examined how transposons affected the genesis and function of upstream open reading frames (uORFs), which serve as cis-acting elements to regulate translation from annotated ORFs (anORFs) located downstream of the uORFs in eukaryotic mRNAs. Among 39,786 human uORFs, 3,992 had ATG trinucleotides of a transposon origin, termed "transposon-derived upstream ATGs" or TuATGs...
February 15, 2018: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/29441603/molecular-analysis-of-cag-repeat-length-of-the-androgen-receptor-gene-and-y-chromosome-microdeletions-among-jordanian-azoospermic-infertile-males
#4
O Batiha, S Haifawi, M Al-Smadi, G J Burghel, Z Naber, A M Elbetieha, K Bodoor, A Al Sumadi, S Swaidat, Y Jarun, A Abdelnour
Assisted reproductive technology is a common procedure which helps millions of couples who suffer fertility problems worldwide every year. Screening for genetic abnormalities prior to such procedure is very important to prevent the transmission of harmful genetic mutations to future generations. Microdeletions within the azoospermia factor (AZF) region of the Y chromosome and the expansion of the CAG trinucleotides in the androgen receptor (AR) gene are among the susceptible causes of male infertility in different ethnic groups...
February 14, 2018: Andrologia
https://www.readbyqxmd.com/read/29440125/small-interfering-rnas-based-on-huntingtin-trinucleotide-repeats-are-highly-toxic-to-cancer-cells
#5
Andrea E Murmann, Quan Q Gao, William E Putzbach, Monal Patel, Elizabeth T Bartom, Calvin Y Law, Bryan Bridgeman, Siquan Chen, Kaylin M McMahon, C Shad Thaxton, Marcus E Peter
Trinucleotide repeat (TNR) expansions in the genome cause a number of degenerative diseases. A prominent TNR expansion involves the triplet CAG in the huntingtin (HTT) gene responsible for Huntington's disease (HD). Pathology is caused by protein and RNA generated from the TNR regions including small siRNA-sized repeat fragments. An inverse correlation between the length of the repeats in HTT and cancer incidence has been reported for HD patients. We now show that siRNAs based on the CAG TNR are toxic to cancer cells by targeting genes that contain long reverse complementary TNRs in their open reading frames...
February 12, 2018: EMBO Reports
https://www.readbyqxmd.com/read/29427109/polyglutamine-independent-features-in-ataxin-3-aggregation-and-pathogenesis-of-machado-joseph-disease
#6
Ana Luisa Carvalho, Alexandra Silva, Sandra Macedo-Ribeiro
The expansion of a trinucleotide (CAG) repeat, translated into a polyglutamine expanded sequence in the protein encoded by the MJD gene, was identified over 20 years ago as the causative mutation in a severe neurodegenerative disorder originally diagnosed in individuals of Portuguese ancestry. This incapacitating disease, called Machado-Joseph disease or spinocebellar ataxia type 3, is integrated into a larger group of neurodegenerative disorders-the polyglutamine expansion disorders-caused by extension of a CAG repeat in the coding sequence of otherwise unrelated genes...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29427106/the-neuropathology-of-spinocerebellar-ataxia-type-3-machado-joseph-disease
#7
Arnulf H Koeppen
Spinocerebellar ataxia type 3 (SCA-3)/Machado-Joseph disease (MJD), the most common autosomal dominant ataxia, affects many regions of the brain and spinal cord. Similar to SCA-1, SCA-2, SCA-6, SCA-7, and SCA-17, the mutation consists of a pathogenic translated cytosine-adenine-guanine (CAG) trinucleotide repeat expansion. Almost invariably, the substantia nigra and the dentate nucleus of the cerebellum bear the brunt of the disease, and these lesions account for the Parkinsonian and ataxic phenotypes. Lesions of motor nuclei in the brain stem cause the complex disturbance of ocular motility and weakness of the tongue...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29427105/spinocerebellar-ataxia-type-17-sca17
#8
Yasuko Toyoshima, Hitoshi Takahashi
In 1999, a polyglutamine expansion was identified in the transcription factor TATA-binding protein (TBP) in a patient with ataxia with negative family history. Subsequently, CAG/CAA repeat expansions in the TBP gene were identified in families with spinocerebellar ataxia (SCA), establishing this repeat expansion as the underlying mutation in SCA type 17 (SCA17). There are several characteristic differences between SCA17 and other polyglutamine diseases. First, SCA17 shows a complex and variable clinical phenotype, in some cases overlapping that of Huntington's disease...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29427102/spinocerebellum-ataxia-type-6-molecular-mechanisms-and-calcium-channel-genetics
#9
Xiaofei Du, Christopher Manuel Gomez
Spinocerebellar ataxia (SCA) type 6 is an autosomal dominant disease affecting cerebellar degeneration. Clinically, it is characterized by pure cerebellar dysfunction, slowly progressive unsteadiness of gait and stance, slurred speech, and abnormal eye movements with late onset. Pathological findings of SCA6 include a diffuse loss of Purkinje cells, predominantly in the cerebellar vermis. Genetically, SCA6 is caused by expansion of a trinucleotide CAG repeat in the last exon of longest isoform CACNA1A gene on chromosome 19p13...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29427096/clinical-features-of-huntington-s-disease
#10
Rhia Ghosh, Sarah J Tabrizi
Huntington's disease (HD) is the most common monogenic neurodegenerative disease and the commonest genetic dementia in the developed world. With autosomal dominant inheritance, typically mid-life onset, and unrelenting progressive motor, cognitive and psychiatric symptoms over 15-20 years, its impact on patients and their families is devastating. The causative genetic mutation is an expanded CAG trinucleotide repeat in the gene encoding the Huntingtin protein, which leads to a prolonged polyglutamine stretch at the N-terminus of the protein...
2018: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29422848/mri-signal-abnormalities-of-the-inferior-olivary-nuclei-in-spinocerebellar-ataxia-type-2
#11
Fumihito Yoshii, Hitoshi Tomiyasu, Ryo Watanabe, Masafuchi Ryo
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12. Magnetic resonance imaging (MRI) of SCA2 showed significant atrophies of the brainstem, middle cerebellar peduncles, and cerebellum. We report two genetically proven SCA2 patients who showed hypertrophy of the inferior olivary nuclei on proton density- and T2-weighted MRI. This pattern has never been reported in patients with SCA1, SCA3, or SCA6, and may make it possible to differentiate SCA2 from other hereditary spinocerebellar ataxias...
September 2017: Case Reports in Neurology
https://www.readbyqxmd.com/read/29420906/development-of-an-indel-polymorphism-database-for-jute-via-comparative-transcriptome-analysis
#12
Zemao Yang, Zhigang Dai, Dongwei Xie, Jiquan Chen, Qing Tang, Chaohua Cheng, Ying Xu, Tingzhang Wang, Jianguang Su
Jute (Corchorus spp.) is one of the most commercially important bast fiber crops in the world. However, molecular markers and high-density genetic maps are still lacking on jute compared with other crops. Insertion/deletion (InDel) markers, one of the most abundant sources of DNA/RNA variations in plant genomes, can easily be distinguished among different accessions using high-throughput sequencing. Using three transcriptome datasets, we identified and developed InDel markers. Altogether, 51 172 InDel sites in 18 800 unigenes were discovered, and the number of InDel loci per unigene varied from 1 to 31...
February 8, 2018: Genome Génome / Conseil National de Recherches Canada
https://www.readbyqxmd.com/read/29419922/transcriptome-profiles-of-sunflower-reveal-the-potential-role-of-microsatellites-in-gene-expression-divergence
#13
Chathurani Ranathunge, Gregory L Wheeler, Melody E Chimahusky, Meaghan M Kennedy, Jesse I Morrison, Brian S Baldwin, Andy D Perkins, Mark E Welch
The mechanisms by which natural populations generate adaptive genetic variation are not well understood. Some studies propose that microsatellites can function as drivers of adaptive variation. Here we tested a potentially adaptive role for transcribed microsatellites with natural populations of the common sunflower (Helianthus annuus L.) by assessing the enrichment of microsatellites in genes that show expression divergence across latitudes. Seeds collected from six populations at two distinct latitudes in Kansas and Oklahoma were planted and grown in a common garden...
February 8, 2018: Molecular Ecology
https://www.readbyqxmd.com/read/29419417/the-central-role-of-dna-damage-and-repair-in-cag-repeat-diseases
#14
REVIEW
Thomas H Massey, Lesley Jones
Diseases such as Huntington's disease and certain spinocerebellar ataxias are caused by the expansion of genomic cytosine-adenine-guanine (CAG) trinucleotide repeats beyond a specific threshold. These diseases are all characterised by neurological symptoms and central neurodegeneration, but our understanding of how expanded repeats drive neuronal loss is incomplete. Recent human genetic evidence implicates DNA repair pathways, especially mismatch repair, in modifying the onset and progression of CAG repeat diseases...
January 30, 2018: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/29416929/a-novel-dysfunctional-germline-p53-mutation-identified-in-a-family-with-li-fraumeni-syndrome
#15
Min Ji, Lin Wang, Yuguo Shao, Wei Cao, Ting Xu, Shujie Chen, Zhiwei Wang, Qi He, Kuo Yang
Li-Fraumeni Syndrome (LFS), which is a rare dominantly inherited cancer predisposition syndrome, is associated with germline P53 mutations. Mutations of the tumor suppressor protein P53 are associated with more than 50% of human cancers; however, almost 30% of P53 mutations occur rarely and this has raised questions about their significance. It therefore appeared of particular interest that we identified a novel mutation in a patient suffering from breast cancer and fulfilling the diagnostic criteria of LFS...
2018: American Journal of Cancer Research
https://www.readbyqxmd.com/read/29416743/dhspred-support-vector-machine-based-human-dnase-i-hypersensitive-sites-prediction-using-the-optimal-features-selected-by-random-forest
#16
Balachandran Manavalan, Tae Hwan Shin, Gwang Lee
DNase I hypersensitive sites (DHSs) are genomic regions that provide important information regarding the presence of transcriptional regulatory elements and the state of chromatin. Therefore, identifying DHSs in uncharacterized DNA sequences is crucial for understanding their biological functions and mechanisms. Although many experimental methods have been proposed to identify DHSs, they have proven to be expensive for genome-wide application. Therefore, it is necessary to develop computational methods for DHS prediction...
January 5, 2018: Oncotarget
https://www.readbyqxmd.com/read/29389977/an-oxidized-abasic-lesion-inhibits-base-excision-repair-leading-to-dna-strand-breaks-in-a-trinucleotide-repeat-tract
#17
Jill M Beaver, Yanhao Lai, Shantell J Rolle, Liwei Weng, Marc M Greenberg, Yuan Liu
Oxidative DNA damage and base excision repair (BER) play important roles in modulating trinucleotide repeat (TNR) instability that is associated with human neurodegenerative diseases and cancer. We have reported that BER of base lesions can lead to TNR instability. However, it is unknown if modifications of the sugar in an abasic lesion modulate TNR instability. In this study, we characterized the effects of the oxidized sugar, 5'-(2-phosphoryl-1,4-dioxobutane)(DOB) in CAG repeat tracts on the activities of key BER enzymes, as well as on repeat instability...
2018: PloS One
https://www.readbyqxmd.com/read/29360003/evolving-therapies-for-fuchs-endothelial-dystrophy
#18
Yu Qiang Soh, Gary Sl Peh, Jodhbir S Mehta
Fuchs' endothelial dystrophy (FED) is characterized by corneal endothelial dysfunction and guttate excrescences on the posterior corneal surface, and is the leading indication for corneal transplantation in developed countries. In severe cases, keratoplasty is considered as the gold standard of treatment. However, there have been significant developments in our understanding of FED over the past decade. Attempts have been made to treat this disease with regenerative therapy techniques such as primary descemetorhexis without an endothelial graft or with a tissue-engineering approach...
January 2018: Regenerative Medicine
https://www.readbyqxmd.com/read/29352178/compositional-bias-in-na%C3%A3-ve-and-chemically-modified-phage-displayed-libraries-uncovered-by-paired-end-deep-sequencing
#19
Bifang He, Katrina F Tjhung, Nicholas J Bennett, Ying Chou, Andrea Rau, Jian Huang, Ratmir Derda
Understanding the composition of a genetically-encoded (GE) library is instrumental to the success of ligand discovery. In this manuscript, we investigate the bias in GE-libraries of linear, macrocyclic and chemically post-translationally modified (cPTM) tetrapeptides displayed on the M13KE platform, which are produced via trinucleotide cassette synthesis (19 codons) and NNK-randomized codon. Differential enrichment of synthetic DNA {S}, ligated vector {L} (extension and ligation of synthetic DNA into the vector), naïve libraries {N} (transformation of the ligated vector into the bacteria followed by expression of the library for 4...
January 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29346421/the-absence-of-specific-yeast-heat-shock-proteins-leads-to-abnormal-aggregation-and-compromised-autophagic-clearance-of-mutant-huntingtin-proteins
#20
Ryan Higgins, Marie-Helene Kabbaj, Alexa Hatcher, Yanchang Wang
The functionality of a protein depends on its correct folding, but newly synthesized proteins are susceptible to aberrant folding and aggregation. Heat shock proteins (HSPs) function as molecular chaperones that aid in protein folding and the degradation of misfolded proteins. Trinucleotide (CAG) repeat expansion in the Huntingtin gene (HTT) results in the expression of misfolded Huntingtin protein (Htt), which contributes to the development of Huntington's disease. We previously found that the degradation of mutated Htt with polyQ expansion (Htt103QP) depends on both ubiquitin proteasome system and autophagy...
2018: PloS One
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