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https://www.readbyqxmd.com/read/28102861/clinical-utility-of-next-generation-sequencing-for-inherited-bone-marrow-failure-syndromes
#1
Hideki Muramatsu, Yusuke Okuno, Kenichi Yoshida, Yuichi Shiraishi, Sayoko Doisaki, Atsushi Narita, Hirotoshi Sakaguchi, Nozomu Kawashima, Xinan Wang, Yinyan Xu, Kenichi Chiba, Hiroko Tanaka, Asahito Hama, Masashi Sanada, Yoshiyuki Takahashi, Hitoshi Kanno, Hiroki Yamaguchi, Shouichi Ohga, Atsushi Manabe, Hideo Harigae, Shinji Kunishima, Eiichi Ishii, Masao Kobayashi, Kenichi Koike, Kenichiro Watanabe, Etsuro Ito, Minoru Takata, Miharu Yabe, Seishi Ogawa, Satoru Miyano, Seiji Kojima
PURPOSE: Precise genetic diagnosis of inherited bone marrow failure syndromes (IBMFS), a heterogeneous group of genetic disorders, is challenging but essential for precise clinical decision making. METHODS: We analyzed 121 IBMFS patients using a targeted sequencing covering 184 associated genes and 250 IBMFS patients using whole-exome sequencing (WES). RESULTS: We achieved successful genetic diagnoses for 53 of 121 patients (44%) using targeted sequencing and for 68 of 250 patients (27%) using WES...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28102839/foot-and-mouth-disease-virus-infection-suppresses-autophagy-and-nf-%C3%B0%C2%BAb-antiviral-responses-via-degradation-of-atg5-atg12-by-3c-pro
#2
Xuxu Fan, Shichong Han, Dan Yan, Yuan Gao, Yanquan Wei, Xiangtao Liu, Ying Liao, Huichen Guo, Shiqi Sun
Autophagy-related protein ATG5-ATG12 is an essential complex for the autophagophore elongation in autophagy, which has been reported to be involved in foot-and-mouth disease virus (FMDV) replication. Previous reports show that ATG5-ATG12 positively or negatively regulates type I interferon (IFN-α/β) pathway during virus infection. In this study, we found that FMDV infection rapidly induced LC3 lipidation and GFP-LC3 subcellular redistribution at the early infection stage in PK-15 cells. Along with infection time course to 2-5 h...
January 19, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28102564/pkn2-is-essential-for-mouse-embryonic-development-and-proliferation-of-mouse-fibroblasts
#3
Sally Danno, Koji Kubouchi, Mona Mehruba, Manabu Abe, Rie Natsume, Kenji Sakimura, Satoshi Eguchi, Masahiro Oka, Masanori Hirashima, Hiroki Yasuda, Hideyuki Mukai
PKN2, a member of the protein kinase N (PKN) family, has been suggested by in vitro culture cell experiments to bind to Rho/Rac GTPases and contributes to cell-cell contact and cell migration. To unravel the in vivo physiological function of PKN2, we targeted the PKN2 gene. Constitutive disruption of the mouse PKN2 gene resulted in growth retardation and lethality before embryonic day (E) 10.5. PKN2(-/-) embryo did not undergo axial turning and showed insufficient closure of the neural tube. Mouse embryonic fibroblasts (MEFs) derived from PKN2(-/-) embryos at E9...
January 19, 2017: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/28102363/smarca4-inactivating-mutations-increase-sensitivity-to-aurora-kinase-a-inhibitor-vx-680-in-non-small-cell-lung-cancers
#4
Vural Tagal, Shuguang Wei, Wei Zhang, Rolf A Brekken, Bruce A Posner, Michael Peyton, Luc Girard, TaeHyun Hwang, David A Wheeler, John D Minna, Michael A White, Adi F Gazdar, Michael G Roth
Mutations in the SMARCA4/BRG1 gene resulting in complete loss of its protein (BRG1) occur frequently in non-small cell lung cancer (NSCLC) cells. Currently, no single therapeutic agent has been identified as synthetically lethal with SMARCA4/BRG1 loss. We identify AURKA activity as essential in NSCLC cells lacking SMARCA4/BRG1. In these cells, RNAi-mediated depletion or chemical inhibition of AURKA induces apoptosis and cell death in vitro and in xenograft mouse models. Disc large homologue-associated protein 5 (HURP/DLGAP5), required for AURKA-dependent, centrosome-independent mitotic spindle assembly is essential for the survival and proliferation of SMARCA4/BRG1 mutant but not of SMARCA4/BRG1 wild-type cells...
January 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/28102350/manipulation-of-auxin-response-factor-19-affects-seed-size-in-the-woody-perennial-jatropha-curcas
#5
Yanwei Sun, Chunming Wang, Ning Wang, Xiyuan Jiang, Huizhu Mao, Changxiang Zhu, Fujiang Wen, Xianghua Wang, Zhijun Lu, Genhua Yue, Zengfu Xu, Jian Ye
Seed size is a major determinant of seed yield but few is known about the genetics controlling of seed size in plants. Phytohormones cytokinin and brassinosteroid were known to be involved in the regulation of herbaceous plant seed development. Here we identified a homolog of Auxin Response Factor 19 (JcARF19) from a woody plant Jatropha curcas and genetically demonstrated its functions in controlling seed size and seed yield. Through Virus Induced Gene Silencing (VIGS), we found that JcARF19 was a positive upstream modulator in auxin signaling and may control plant organ size in J...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28102207/drosophila-fit-is-a-protein-specific-satiety-hormone-essential-for-feeding-control
#6
Jinghan Sun, Chang Liu, Xiaobing Bai, Xiaoting Li, Jingyun Li, Zhiping Zhang, Yunpeng Zhang, Jing Guo, Yan Li
Protein homeostasis is critical for health and lifespan of animals. However, the mechanisms for controlling protein feeding remain poorly understood. Here we report that in Drosophila, protein intake-induced feeding inhibition (PIFI) is specific to protein-containing food, and this effect is mediated by a fat body (FB) peptide named female-specific independent of transformer (FIT). Upon consumption of protein food, FIT expression is greatly elevated. Secreted FIT peptide in the fly haemolymph conveys this metabolic message to the brain, thereby promoting the release of Drosophila insulin-like peptide 2 (DILP2) and suppressing further protein intake...
January 19, 2017: Nature Communications
https://www.readbyqxmd.com/read/28102195/positive-association-between-kcnj5-rs2604204-a-c-polymorphism-and-plasma-aldosterone-levels-but-also-plasma-renin-and-angiotensin-i-and-ii-levels-in-newly-diagnosed-hypertensive-chinese-a-case-control-study
#7
H Wang, C Weng, H Chen
Variants in G protein-coupled inward rectifier K(+) channels 4 (GIRK4 also known as KCNJ5) gene are associated with primary aldosteronism, which is the most common cause of secondary hypertension. The KCNJ5 rs2604204 variant was shown to be common (minor allele frequency=32.5%) in Chinese patients with essential hypertension (EH). The relationship between KCNJ5 variant and plasma aldosterone (ALD) levels in EH patients has not been reported. We collected 229 patients with newly diagnosed EH without any antihypertensive agents...
January 19, 2017: Journal of Human Hypertension
https://www.readbyqxmd.com/read/28101932/amino-acid-profiling-of-zinc-resistant-prostate-cancer-cell-lines-associations-with-cancer-progression
#8
Monika Kratochvilova, Martina Raudenska, Zbynek Heger, Lukas Richtera, Natalia Cernei, Vojtech Adam, Petr Babula, Marie Novakova, Michal Masarik, Jaromir Gumulec
BACKGROUND: Failure in intracellular zinc accumulation is a key process in prostate carcinogenesis. Nevertheless, epidemiological studies of zinc administration have provided contradicting results. In order to examine the impact of the artificial intracellular increase of zinc(II) ions on prostate cancer metabolism, PNT1A, 22Rv1, and PC-3 prostatic cell lines-depicting different stages of cancer progression-and their zinc-resistant counterparts were used. To determine "benign" and "malignant" metabolic profiles, amino acid patterns, gene expression, and antioxidant capacity of these cell lines were assessed...
January 19, 2017: Prostate
https://www.readbyqxmd.com/read/28101863/lessons-from-animal-models-of-cytoplasmic-intermediate-filament-proteins
#9
Jamal-Eddine Bouameur, Thomas M Magin
Cytoplasmic intermediate filaments (IFs) represent a major cytoskeletal network contributing to cell shape, adhesion and migration as well as to tissue resilience and renewal in numerous bilaterians, including mammals. The observation that IFs are dispensable in cultured mammalian cells, but cause tissue-specific, life-threatening disorders, has pushed the need to investigate their function in vivo. In keeping with human disease, the deletion or mutation of murine IF genes resulted in highly specific pathologies...
2017: Sub-cellular Biochemistry
https://www.readbyqxmd.com/read/28101612/abolishment-of-n-glycan-mannosylphosphorylation-in-glyco-engineered-saccharomyces-cerevisiae-by-double-disruption-of-mnn4-and-mnn14-genes
#10
Yeong Hun Kim, Ji-Yeon Kang, Jin Young Gil, Sang-Yoon Kim, Keun Koo Shin, Hyun Ah Kang, Jeong-Yoon Kim, Ohsuk Kwon, Doo-Byoung Oh
Mannosylphosphorylated glycans are found only in fungi, including yeast, and the elimination of mannosylphosphates from glycans is a prerequisite for yeast glyco-engineering to produce human-compatible glycoproteins. In Saccharomyces cerevisiae, MNN4 and MNN6 genes are known to play roles in mannosylphosphorylation, but disruption of these genes does not completely remove the mannosylphosphates in N-glycans. This study was performed to find unknown key gene(s) involved in N-glycan mannosylphosphorylation in S...
January 18, 2017: Applied Microbiology and Biotechnology
https://www.readbyqxmd.com/read/28100912/cryptic-splice-activation-but-not-exon-skipping-is-observed-in-minigene-assays-of-dystrophin-c-9361-1g-a-mutation-identified-by-ngs
#11
Emma Tabe Eko Niba, Atsushi Nishida, Van Khanh Tran, Dung Chi Vu, Masaaki Matsumoto, Hiroyuki Awano, Tomoko Lee, Yasuhiro Takeshima, Hisahide Nishio, Masafumi Matsuo
Next-generation sequencing (NGS) discloses nucleotide changes in the genome. Mutations at splicing regulatory elements are expected to cause splicing errors, such as exon skipping, cryptic splice site activation, partial exon loss or intron retention. In dystrophinopathy patients, prediction of splicing outcomes is essential to determine the phenotype: either severe Duchenne or mild Becker muscular dystrophy, based on the reading frame rule. In a Vietnamese patient, NGS identified a c.9361+1G>A mutation in the dystrophin gene and an additional DNA variation of A>G at +117 bases in intron 64...
January 19, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28100770/control-of-amino-acid-homeostasis-by-a-ubiquitin-ligase-coactivator-protein-complex
#12
Damian Guerra, Sonia M Chapiro, Réjane Pratelli, Shi Yu, Weitao Jia, Julie Leary, Guillaume Pilot, Judy Callis
Intercellular amino acid transport is essential for the growth of all multicellular organisms, and its dysregulation is implicated in developmental disorders. By an unknown mechanism, amino acid efflux is stimulated in plants by over-expression of a membrane-localized protein (GLUTAMINE DUMPER 1, GDU1) that requires a ubiquitin ligase (LOSS OF GDU 2, LOG2). Here we further explore the physiological consequences of the interaction between these two proteins. LOG2 ubiquitin ligase activity is necessary for GDU1-dependent tolerance to exogenous amino acids, and LOG2 self-ubiquitination was markedly stimulated by the GDU1 cytosolic domain, suggesting that GDU1 functions as an adaptor or coactivator of amino acid exporter(s)...
January 18, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28100769/the-ubiquitin-like-with-phd-and-ring-finger-domains-1-uhrf1-dna-methyltransferase-1-dnmt1-axis-is-a-primary-regulator-of-cell-senescence
#13
Hyun-Jung Jung, Hae-Ok Byun, Byul A Jee, Seongki Min, Un-Woo Jeoun, Young-Kyoung Lee, Yonghak Seo, Hyun Goo Woo, Gyesoon Yoon
As senescence develops, cells sequentially acquire diverse senescent phenotypes, along with simultaneous multi-stage gene reprogramming. It remains unclear what acts as the key regulator of the collective changes in gene expression at initiation of senescent reprogramming. Here we analysed time-series gene expression profiles obtained in two different senescence models in human diploid fibroblasts (HDF): replicative senescence and H2O2-induced senescence. Our results demonstrated that suppression of DNA methyltransferase 1 (DNMT1)-mediated DNA methylation activity was an initial event prior to the display of senescent phenotypes...
January 18, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28100707/the-rla1-smos1-transcription-factor-functions-with-osbzr1-to-regulate-brassinosteroid-signaling-and-rice-architecture
#14
Shenglong Qiao, Shiyong Sun, Linlin Wang, Zhihua Wu, Chengxiang Li, Xiaoming Li, Tao Wang, Linna Leng, Weisheng Tian, Tiegang Lu, Xuelu Wang
Brassinosteroids (BRs) are plant-specific steroid hormones that control plant growth and development. Recent studies have identified key components of the BR signaling pathway in Arabidopsis thaliana and in rice (Oryza sativa); however, the mechanism of BR signaling in rice, especially downstream of GSK3/SHAGGY-like kinase (GSK2), remains unclear. Here we identified a BR-insensitive rice mutant, reduced leaf angle 1 (rla1), and cloned the corresponding gene. RLA1 was identical to the previously reported SMALL ORGAN SIZE 1 (SMOS1) which was cloned from another allele...
January 18, 2017: Plant Cell
https://www.readbyqxmd.com/read/28100697/the-histone-demethylase-phf8-is-a-molecular-safeguard-of-the-ifn%C3%AE-response
#15
Elena Asensio-Juan, Raquel Fueyo, Stella Pappa, Simona Iacobucci, Carmen Badosa, Sergi Lois, Miriam Balada, Laia Bosch-Presegué, Alex Vaquero, Sara Gutiérrez, Carme Caelles, Carme Gallego, Xavier de la Cruz, Marian A Martínez-Balbás
A precise immune response is essential for cellular homeostasis and animal survival. The paramount importance of its control is reflected by the fact that its non-specific activation leads to inflammatory events that ultimately contribute to the appearance of many chronic diseases. However, the molecular mechanisms preventing non-specific activation and allowing a quick response upon signal activation are not yet fully understood. In this paper we uncover a new function of PHF8 blocking signal independent activation of immune gene promoters...
January 18, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28100650/transforming-growth-factor-%C3%AE-suppresses-peroxisome-proliferator-activated-receptor-%C3%AE-expression-via-both-smad-binding-and-novel-tgf-%C3%AE-inhibitory-elements
#16
Sowmya P Lakshmi, Aravind T Reddy, Raju C Reddy
Transforming growth factor β (TGF-β) contributes to wound healing and, when dysregulated, to pathological fibrosis. TGF-β and the anti-fibrotic nuclear hormone receptor peroxisome proliferator-activated receptor γ (PPARγ) repress each other's expression, and such PPARγ downregulation is prominent in fibrosis and mediated, via previously unknown mechanisms, by SMAD signaling. Here we show that TGF-β induces association of SMAD3 with both SMAD4, needed for translocation of the complex into the nucleus, and the essential context-sensitive corepressors E2F4 and p107...
January 18, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28100647/marpodb-an-open-registry-for-marchantia-polymorpha-genetic-parts
#17
Mihails Delmans, Bernardo Pollak, Jim Haseloff
Marchantia polymorpha is an extant relative of the earliest terrestrial plants and has attracted a substantial interest as a model organism for evolutionary and developmental studies. Given its relatively simple genome, compact gene families, simple morphology, ease of propagation and transformation, M. polymorpha is becoming a promising platform for plant synthetic biology. Modular genetic parts have been essential for development of synthetic biology approaches, so we sought to design an engineering oriented database for M...
January 18, 2017: Plant & Cell Physiology
https://www.readbyqxmd.com/read/28100608/herpes-simplex-virus-type-1-ul24-abrogates-dna-sensing-signal-pathway-by-inhibiting-nf-%C3%AE%C2%BAb-activation
#18
Haiyan Xu, Chenhe Su, Angela Pearson, Christopher H Mody, Chunfu Zheng
: Cyclic GMP-AMP synthase (cGAS) is a newly identified DNA sensor that recognizes foreign DNA, including the genome of herpes simplex virus 1 (HSV-1). Upon binding of viral DNA, cGAS produces cyclic GMP-AMP, which interacts with and activates stimulator of interferon genes (STING) to trigger the transcription of anti-viral genes such as type I interferons and production of inflammatory cytokines. HSV-1 UL24 is widely conserved among the herpesviruses family and is essential for efficient viral replication...
January 18, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28100467/an-essential-role-of-cbl-and-cbl-b-ubiquitin-ligases-in-mammary-stem-cell-maintenance
#19
Bhopal Mohapatra, Neha Zutshi, Wei An, Benjamin Goetz, Priyanka Arya, Timothy A Bielecki, Insha Mustaq, Matthew D Storck, Jane L Meza, Vimla Band, Hamid Band
CBL and CBL-B ubiquitin ligases are negative regulators of tyrosine kinase signaling with established roles in the immune system. However, their physiological roles in epithelial tissues are unknown. Here we used the MMTV-Cre-mediated Cbl gene deletion on a Cbl-b-null background as well as a tamoxifen-inducible mammary stem cell (MaSC)-specific Cbl/Cbl-b double knockout (DKO), using Lgr5-GFP-CreERT, to demonstrate a mammary epithelial cell-autonomous requirement of CBL and CBL-B in the maintenance of MaSCs...
January 18, 2017: Development
https://www.readbyqxmd.com/read/28100313/rectinema-cohabitans-gen-nov-sp-nov-a-rod-shaped-spirochete-isolated-from-an-anaerobic-naphthalene-degrading-enrichment-culture
#20
Janina S Koelschbach, Housna Mouttaki, Carolin Pickl, Hermann J Heipieper, Reinhard Rachel, Paul A Lawson, Rainer U Meckenstock
The anaerobic, non-motile strain HMT was isolated from the naphthalene-degrading, sulfate-reducing enrichment culture N47. Since 20 years, strain HMT has been a stable member of culture N47 although it is neither able to degrade naphthalene nor to reduce sulfate in pure culture. The highest similarity of the 16S rRNA gene sequence of strain HMT (89%) is with a cultivated member of the family Spirochaetaceae, Treponema caldarium sp. strain H1T (DSM 7334T), an obligately anaerobic, thermophilic spirochete isolated from cyanobacterial mat samples collected at a freshwater hot spring in Oregon, USA...
January 18, 2017: International Journal of Systematic and Evolutionary Microbiology
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