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https://www.readbyqxmd.com/read/28550523/morphological-evaluation-of-retinal-ganglion-cells-expressing-the-l132c-t159c-chr2-mutant-transgene-in-young-adult-cynomolgus-monkeys
#1
Wenyao Wang, Yan Nan, Zhuo-Hua Pan, Mingliang Pu
To characterize recombinant AAV2 (rAAV2)-mediated expression of L132C/T159C ChR2 mutant in retinal ganglion cells (RGCs) of young adult cynomolgus monkeys. rAAV2 vectors carrying a fusion construct of the ChR2 mutant and GFP (ChR2-GFP) were delivered to the vitreous chamber by intravitreal injection. Expression patterns of the ChR2 mutant in RGCs were examined by immunohistochemical methods three months after injection. The RNA-binding protein with multiple splicing (RBPMS) was used as an RGC specific marker to differentiate RGCs from other retinal neurons and non-neuronal cells...
May 25, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28550450/abcc4-functional-snp-in-the-3-splice-acceptor-site-of-exon-8-g912t-is-associated-with-unfavorable-clinical-outcome-in-children-with-acute-lymphoblastic-leukemia
#2
Hamzeh Mesrian Tanha, Soheila Rahgozar, Marjan Mojtabavi Naeini
OBJECTIVES: ATP-binding cassette subfamily C member 4 (ABCC4) encoding MRP4 protein is involved in pediatric acute lymphoblastic leukemia (ALL) drug resistance. The nonsynonymous single nucleotide polymorphism (SNP) rs2274407 (G912T; K304N) is located in the 3' splice acceptor site of exon 8 of ABCC4 pre-mRNA. The aim of this study was to investigate the prognostic value of rs2274407 in childhood ALL and its possible functional effect on MRP4. METHODS: ABCC4 G912T SNP was genotyped in 145 Iranian Philadelphia-negative (Ph(-)) children with ALL using modified tetra-primer ARMS PCR and evaluated for possible association with 3-year disease-free survival (3DFS)...
May 26, 2017: Cancer Chemotherapy and Pharmacology
https://www.readbyqxmd.com/read/28550248/cd44-splice-variants-as-potential-players-in%C3%A2-alzheimer-s-disease-pathology
#3
Elhanan Pinner, Yaron Gruper, Micha Ben Zimra, Don Kristt, Moshe Laudon, David Naor, Nava Zisapel
Alzheimer's disease (AD) is a progressive neurodegenerative disorder characterized by cognitive deficits, deposition of amyloid-β (Aβ) plaques, intracellular neurofibrillary tangles, and neuronal cell death. Neuroinflammation is commonly believed to participate in AD pathogenesis. CD44 is an inflammation-related gene encoding a widely-distributed family of alternatively spliced cell surface glycoproteins that have been implicated in inflammation, metastases, and inflammation-linked neuronal injuries. Here we investigated the expression patterns of CD44S (which does not contain any alternative exon) and CD44 splice variants in postmortem hippocampal samples from AD patients and matched non-AD controls...
May 25, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28550182/recessive-grey-platelet-like-syndrome-with-unaffected-erythropoiesis-in-the-absence-of-the-splice-isoform-gfi1b-p37
#4
Harald Schulze, Axel Schlagenhauf, Georgi Manukjan, Christine Beham-Schmid, Oliver Andres, Eva Klopocki, Eva-Maria König, Harald Haidl, Simon Panzer, Karina Althaus, Wolfgang E Muntean, Wolfgang Schwinger, Christian Urban, Andreas Greinacher, Tamam Bakchoul, Markus G Seidel
No abstract text is available yet for this article.
May 26, 2017: Haematologica
https://www.readbyqxmd.com/read/28549855/multi-platform-analysis-reveals-a-complex-transcriptome-architecture-of-a-circovirus
#5
Norbert Moldován, Zsolt Balázs, Dóra Tombácz, Zsolt Csabai, Attila Szűcs, Michael Snyder, Zsolt Boldogkői
In this study, we used Pacific Biosciences RS II long-read and Illumina HiScanSQ short-read sequencing technologies for the characterization of porcine circovirus type 1 (PCV-1) transcripts. Our aim was to identify novel RNA molecules and transcript isoforms, as well as to determine the exact 5'- and 3'-end sequences of previously described transcripts with single base-pair accuracy. We discovered a novel 3'-UTR length isoform of the Cap transcript, and a non-spliced Cap transcript variant. Additionally, our analysis has revealed a 3'-UTR isoform of Rep and two 5'-UTR isoforms of Rep' transcripts, and a novel splice variant of the longer Rep' transcript...
May 23, 2017: Virus Research
https://www.readbyqxmd.com/read/28549443/quantitative-analysis-of-cryptic-splicing-associated-with-tdp-43-depletion
#6
Jack Humphrey, Warren Emmett, Pietro Fratta, Adrian M Isaacs, Vincent Plagnol
BACKGROUND: Reliable exon recognition is key to the splicing of pre-mRNAs into mature mRNAs. TDP-43 is an RNA-binding protein whose nuclear loss and cytoplasmic aggregation are a hallmark pathology in amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). TDP-43 depletion causes the aberrant inclusion of cryptic exons into a range of transcripts, but their extent, relevance to disease pathogenesis and whether they are caused by other RNA-binding proteins implicated in ALS/FTD are unknown...
May 26, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28549249/cd146-mcam-in-human-cs-dlk1-cs-cd34-adipose-stromal-progenitor-cells
#7
Susanne Hörl, Asim Ejaz, Sebastian Ernst, Monika Mattesich, Andreas Kaiser, Brigitte Jenewein, Marit E Zwierzina, Sarina Hammerle, Carina Miggitsch, Maria C Mitterberger-Vogt, Claudia Krautgasser, Gerhard Pierer, Werner Zwerschke
To precisely characterize CD146 in adipose stromal/progenitor cells (ASCs) we sorted the stromal vascular faction (SVF) of human abdominal subcutaneous white adipose tissue (sWAT) according to cell surface (cs) expression of CD146, DLK1 and CD34. This test identified three main SVF cell populations: ~50% cs-DLK1(-)/cs-CD34(+)/cs-CD146(-) ASCs, ~7.5% cs-DLK1(+)/cs-CD34(dim/+)/cs-CD146(+) and ~7.5% cs-DLK1(+)/cs-CD34(dim/+)/cs-CD146(-) cells. All cells contained intracellular CD146. Whole mount fluorescent IHC staining of small vessels detected CD146(+) endothelial cells (CD31(+)/CD34(+)/CD146(+)) and pericytes (CD31(-)/CD34(-)/CD146(+) ASCs)...
May 17, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28549172/orrm5-an-rna-recognition-motif-containing-protein-has-a-unique-effect-on-mitochondrial-rna-editing
#8
Xiaowen Shi, Benoit Castandet, Arnaud Germain, Maureen R Hanson, Stéphane Bentolila
Plants have an RNA editing mechanism that prevents deleterious organelle mutations from resulting in impaired proteins. A typical flowering plant modifies about 40 cytidines in chloroplast transcripts and many hundreds of cytidines in mitochondrial transcripts. The plant editosome, the molecular machinery responsible for this process, contains members of several protein families, including the organelle RNA recognition motif (ORRM)-containing family. ORRM1 and ORRM6 are chloroplast editing factors, while ORRM2, ORRM3, and ORRM4 are mitochondrial editing factors...
May 26, 2017: Journal of Experimental Botany
https://www.readbyqxmd.com/read/28549093/autoantibodies-in-melanoma-associated-retinopathy-recognize-an-epitope-conserved-between-trpm1-and-trpm3
#9
Robert M Duvoisin, Tammie L Haley, Gaoying Ren, Iwona Strycharska-Orczyk, James P Bonaparte, Catherine W Morgans
Purpose: Melanoma-associated retinopathy (MAR) is a paraneoplastic syndrome associated with malignant melanoma and the presence of anti-retinal autoantibodies, including autoantibodies against transient receptor potential melanopsin 1 (TRPM1), a cation channel expressed by both melanocytes and retinal bipolar cells. The goal of this study was to further map the antigenic epitope. Methods: Patient sera were tested by immunofluorescence and Western blotting on HEK293 cells transfected with enhanced green fluorescent protein (EGFP)-TRPM1 fusion constructs and mouse retina sections...
May 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28549066/alternative-exon-definition-events-control-the-choice-between-nuclear-retention-and-cytoplasmic-export-of-u11-u12-65k-mrna
#10
Jens Verbeeren, Bhupendra Verma, Elina H Niemelä, Karen Yap, Eugene V Makeyev, Mikko J Frilander
Cellular homeostasis of the minor spliceosome is regulated by a negative feed-back loop that targets U11-48K and U11/U12-65K mRNAs encoding essential components of the U12-type intron-specific U11/U12 di-snRNP. This involves interaction of the U11 snRNP with an evolutionarily conserved splicing enhancer giving rise to unproductive mRNA isoforms. In the case of U11/U12-65K, this mechanism controls the length of the 3' untranslated region (3'UTR). We show that this process is dynamically regulated in developing neurons and some other cell types, and involves a binary switch between translation-competent mRNAs with a short 3'UTR to non-productive isoforms with a long 3'UTR that are retained in the nucleus or/and spliced to the downstream amylase locus...
May 26, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28548969/transcriptome-profiling-in-preadipocytes-identifies-long-noncoding-rnas-as-sam68-targets
#11
Naomi Li, Steven Hébert, Jingwen Song, Claudia L Kleinman, Stéphane Richard
The KH-type RNA binding protein Sam68 is required for adipogenesis. We have previously shown that Sam68-deficient mice have a lean phenotype and are protected against dietary-induced obesity due to defects in mTOR and S6K1 alternative splicing. Herein we profiled the transcriptome of Sam68 wild type and deficient 3T3-L1 mouse preadipocytes. We identified 652 protein-coding genes and 9 ncRNAs that were significantly altered with the loss of Sam68. As expected, downregulated genes were significantly associated with GO terms linked to cell migration, motility, and fat cell differentiation, while upregulated genes were mostly associated with GO terms linked to neurogenesis...
May 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28548470/whole-exome-sequencing-of-etv6-runx1-in-four-childhood-acute-lymphoblastic-leukaemia-cases
#12
Zubaidah Zakaria, Norodiyah Othman, Azli Ismail, Nor Rizan Kamaluddin, Ezalia Esa, Eni Juraida Abdul Rahman, Yuslina Mat Yusoff, Fazlin Mohd Fauzi, Ten Sew Keoh
Background: ETV6/RUNX1 gene fusion is the most frequently seen chromosomal abnormality in childhood acute lymphobastic leukamia (ALL). However, additional genetic changes are known to be required for the development of this type of leukaemia. Therefore, we here aimed to assess the somatic mutational profile of four ALL cases carrying the ETV6/RUNX1 fusion gene using whole-exome sequencing. Methods: DNA was isolated from bone marrow samples using a QIAmp DNA Blood Mini kit and subsequently sequenced using the Illumina MiSeq system...
April 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28547909/identification-and-expression-of-conserved-and-novel-rna-variants-of-medaka-pax6b-gene
#13
Tiansheng Chen, Benzion Cavari, Manfred Schartl, Yunhan Hong
Gene duplication is a major driving force of evolution. How gene duplicates have evolved remains a mystery. A highly conserved gene such as Pax6 is an ideal model to study functional conservation and divergence via comparisons among diverse organisms. One pax6 gene has been characterized in the Japanese medaka (Oryzias latipes), which is annotated as pax6b on chromosome 3. Here, we report that Medaka pax6b is homolog to Pax6 of mammals in sequence, chromosomal synteny, and genomic organization. Cloning and sequencing led to the identification of up to 43 pax6b RNA variants predicting six protein isoforms, 22 of which are similar to those reported in other organisms and 21 represent novel RNA variants...
May 26, 2017: Journal of Experimental Zoology. Part B, Molecular and Developmental Evolution
https://www.readbyqxmd.com/read/28547672/myeloid-neoplasms-with-germline-ddx41-mutation
#14
REVIEW
Jesse J C Cheah, Christopher N Hahn, Devendra K Hiwase, Hamish S Scott, Anna L Brown
Recently, DDX41 mutations have been identified both as germline and acquired somatic mutations in families with multiple cases of late-onset myelodysplastic syndrome (MDS) and/or acute myeloid leukemia. The majority of germline mutations are frameshift mutations suggesting loss of function with DDX41 acting as a tumor suppressor, and there is a common somatic missense mutation found in a majority of germline mutated tumors. Clinically, DDX41 mutations lead to development of high-risk MDS at an age similar to that observed in sporadic cohorts, presenting a unique challenge to hematologists in recognizing the familial context...
May 25, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28546999/a-birth-of-bipartite-exon-by-intragenic-deletion
#15
Kandai Nozu, Kazumoto Iijima, Toru Igarashi, Shiro Yamada, Jana Kralovicova, Yoshimi Nozu, Tomohiko Yamamura, Shogo Minamikawa, Ichiro Morioka, Takeshi Ninchoji, Hiroshi Kaito, Koichi Nakanishi, Igor Vorechovsky
BACKGROUND: Disease-causing mutations that activate transposon-derived exons without creating a new splice-site consensus have been reported rarely, but they provided unique insights into our understanding of structural motifs required for inclusion of intronic sequences in mature transcripts. METHODS: We employ a combination of experimental and computational techniques to characterize the first de novo bipartite exon activation in genetic disease. RESULTS: The exon originated from two separate introns as a result of an in-frame COL4A5 deletion associated with a typical Alport syndrome...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546993/nationwide-genetic-analysis-for-molecularly-unresolved-cystic-fibrosis-patients-in-a-multiethnic-society-implications-for-preconception-carrier-screening
#16
Doron M Behar, Ori Inbar, Michal Shteinberg, Michal Gur, Huda Mussaffi, David Shoseyov, Moshe Ashkenazi, Soliman Alkrinawi, Concetta Bormans, Fahed Hakim, Meir Mei-Zahav, Malena Cohen-Cymberknoh, Adi Dagan, Dario Prais, Ifat Sarouk, Patrick Stafler, Bat El Bar Aluma, Gidon Akler, Elie Picard, Micha Aviram, Ori Efrati, Galit Livnat, Joseph Rivlin, Lea Bentur, Hannah Blau, Eitan Kerem, Amihood Singer
BACKGROUND: Preconception carrier screening for cystic fibrosis (CF) is usually performed using ethnically targeted panels of selected mutations. This has been recently challenged by the use of expanded, ethnically indifferent, pan-population panels. Israel is characterized by genetically heterogeneous populations carrying a wide range of CFTR mutations. To assess the potential of expanding the current Israeli preconception screening program, we sought the subset of molecularly unresolved CF patients listed in the Israeli CF data registry comprising ~650 patients...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546788/dmd-transcripts-in-crl-2061-rhabdomyosarcoma-cells-show-high-levels-of-intron-retention-by-intron-specific-pcr-amplification
#17
Emma Tabe Eko Niba, Ryo Yamanaka, Abdul Qawee Mahyoob Rani, Hiroyuki Awano, Masaaki Matsumoto, Hisahide Nishio, Masafumi Matsuo
BACKGROUND: The DMD gene encoding dystrophin is mutated in Duchenne muscular dystrophy, a fatal progressive muscle wasting disease. DMD has also been shown to act as a tumor suppressor gene. Rhabdomyosarcoma (RMS) is a mesodermal sarcoma that shares characteristics of skeletal muscle precursors. Products of the DMD gene in RMS have not yet been fully clarified. Here, DMD products were analyzed in CRL-2061 cells established from alveolar RMS. METHODS: The 14-kb long DMD cDNA was PCR amplified as 20 separated fragments, as were nine short intron regions...
2017: Cancer Cell International
https://www.readbyqxmd.com/read/28546535/a-novel-prkag2-mutation-in-a-chinese-family-with-cardiac-hypertrophy-and-ventricular-pre-excitation
#18
Kun-Qi Yang, Chao-Xia Lu, Ying Zhang, Yan-Kun Yang, Jia-Cheng Li, Tian Lan, Xu Meng, Peng Fan, Tao Tian, Lin-Ping Wang, Ya-Xin Liu, Xue Zhang, Xian-Liang Zhou
PRKAG2 syndrome is a rare autosomal dominant inherited disorder that is characterized by cardiac hypertrophy, ventricular pre-excitation and conduction system abnormalities. There is little knowledge in cardiovascular magnetic resonance (CMR) characteristics of PRKAG2 cardiomyopathy. This study investigated the genetic defect in a three-generation Chinese family with cardiac hypertrophy and ventricular pre-excitation using whole-exome sequencing. A novel missense mutation, c.1006 G > T (p.V336L), was identified in PRKAG2...
May 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28546430/crosstalk-between-the-h3k36me3-and-h4k16ac-histone-epigenetic-marks-in-dna-double-strand-break-repair
#19
Lin Li, Yinsheng Wang
Post-translational modifications of histone proteins regulate numerous cellular processes. Among these modifications, trimethylation of lysine 36 in histone H3 (H3K36me3) and acetylation of lysine 16 in histone H4 (H4K16ac) have important roles in transcriptional regulation and DNA damage response signaling. However, whether these two epigenetic histone marks are mechanistically linked remains unclear. Here, we discovered a new pathway through which H3K36me3 stimulates H4K16ac upon DNA double-strand break (DSB) induction in human cells...
May 25, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28546157/erratum-for-the-research-article-anticancer-sulfonamides-target-splicing-by-inducing-rbm39-degradation-via-recruitment-to-dcaf15-by-t-han-m-goralski-n-gaskill-e-capota-j-kim-t-c-ting-y-xie-n-s-williams-d-nijhawan
#20
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