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Pesquisa : D08.811.913.400.725.450 [Categoria DeCS]
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[PMID]:29254288
[Au] Autor:Dyszkiewicz-Konwinska M; Bryja A; Jopek K; Budna J; Khozmi R; Jeseta M; Bukowska D; Antosik P; Bruska M; Nowicki M; Zabel M; Kempisty B
[Ad] Endereço:Department of Biomaterials and Experimental Dentistry, Poznan University of Medical Sciences, Poznan, Poland.
[Ti] Título:Expression of genes responsible for cell morphogenesis involved in differentiation in porcine buccal pouch mucosal cells during long-term primary culture and real-time proliferation in vitro.
[So] Source:J Biol Regul Homeost Agents;31(4):855-864, 2017 Oct-Dec.
[Is] ISSN:0393-974X
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:Recently, using experimental animal model, we demonstrated that porcine buccal pouch mucosal cells reflect increased proliferation capability during primary cultivation in vitro. Although the histological structure and morphogenesis in oral cavity is well recognized, the molecular mechanisms which regulate this process still need further investigation. This study was aimed to analyze the molecular marker expression profile involved in morphogenesis and differentiation capacity of porcine buccal pouch mucosal cells during their long-term primary cultivation in vitro. The experiment was performed on buccal pouch mucosal cells isolated from 80 pubertal crossbred Landrace gilts. After collection, the cells were treated enzymatically and transferred into a primary in vitro culture (IVC) system and cultured for 30 days. The cells were collected for RNA isolation after 7, 15 and 30 days of IVC and were checked for their real-time proliferative status using the RTCA system. We found an increased expression of FN1 and SOX9 genes when calculated against ACTB after 7, and 30 days of IVC, (P less than 0.01, P less than 0.001, respectively). The CXCL12 mRNA was down-regulated after 7, 15 and 30 days of IVC, but not statistically significant. Similar expression profile was observed when calculated against HPRT, however, DAB2 was found to be higher expressed at day 15 of IVC, (P less than 0.05). The cell index measured during real-time cell proliferation was substantially increased between 96 h and 147h of IVC and reached the log phase. Since FN1 and SOX9 revealed significant increase of expression after long-term culture in vitro, it is suggested that expression of these differentiation and stemness genes is accompanied by cell proliferation. Moreover, FN1 and SOX9 might be recognized as new markers of buccal pouch mucosal cell proliferation and differentiation in pigs in in vitro primary culture model.
[Mh] Termos MeSH primário: Células Epiteliais/metabolismo
Regulação da Expressão Gênica no Desenvolvimento
Lipocalina-2/genética
Morfogênese/genética
Mucosa Bucal/metabolismo
Fatores de Transcrição SOX9/genética
[Mh] Termos MeSH secundário: Animais
Diferenciação Celular
Proliferação Celular
Quimiocina CXCL12/genética
Quimiocina CXCL12/metabolismo
Células Epiteliais/citologia
Feminino
Perfilação da Expressão Gênica
Hipoxantina Fosforribosiltransferase/genética
Hipoxantina Fosforribosiltransferase/metabolismo
Lipocalina-2/metabolismo
Mucosa Bucal/citologia
Mucosa Bucal/crescimento & desenvolvimento
Cultura Primária de Células
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
Fatores de Transcrição SOX9/metabolismo
Transdução de Sinais
Suínos
Proteínas Supressoras de Tumor/genética
Proteínas Supressoras de Tumor/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Chemokine CXCL12); 0 (Lipocalin-2); 0 (RNA, Messenger); 0 (SOX9 Transcription Factor); 0 (Tumor Suppressor Proteins); EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase)
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171220
[St] Status:MEDLINE


  2 / 4330 MEDLINE  
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[PMID]:29185864
[Au] Autor:Nguyen KV; Naviaux RK; Nyhan WL
[Ad] Endereço:a Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine , University of California, San Diego , CA , USA.
[Ti] Título:Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.
[So] Source:Nucleosides Nucleotides Nucleic Acids;36(11):704-711, 2017 Nov 02.
[Is] ISSN:1532-2335
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report a novel point mutation that led to HGprt-related neurological dysfunction (HND) in a family in which there was a missense mutation in exon 6 of the coding region of the HPRT1 gene: g.34938G>T, c.403G>T, p.D135Y. Molecular diagnosis is consistent with the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.
[Mh] Termos MeSH primário: Hipoxantina Fosforribosiltransferase/genética
Síndrome de Lesch-Nyhan/enzimologia
Síndrome de Lesch-Nyhan/genética
Mutação de Sentido Incorreto
[Mh] Termos MeSH secundário: Sequência de Bases
Pré-Escolar
Éxons/genética
Feminino
Seres Humanos
Hipoxantina Fosforribosiltransferase/metabolismo
Masculino
Linhagem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180101
[Lr] Data última revisão:
180101
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171130
[St] Status:MEDLINE
[do] DOI:10.1080/15257770.2017.1395037


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[PMID]:28910671
[Au] Autor:Bláha P; Koshlan NA; Koshlan IV; Petrova DV; Bogdanova YV; Govorun RD; Múcka V; Krasavin EA
[Ad] Endereço:Laboratory of Radiation Biology, Joint Institute for Nuclear Research, Joliot--Curie 6, 141980, Dubna, Moscow Region, Russia; Faculty of Nuclear Sciences and Physical Engineering, Czech Technical University in Prague, Brehová 7, 11519, Prague 1, Czech Republic. Electronic address: pavel.blahax@gmail
[Ti] Título:Delayed effects of accelerated heavy ions on the induction of HPRT mutations in V79 hamster cells.
[So] Source:Mutat Res;803-805:35-41, 2017 Oct.
[Is] ISSN:1873-135X
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Fundamental research on the harmful effects of ionizing radiation on living cells continues to be of great interest. Recently, priority has been given to the study of high-charge and high-energy (HZE) ions that comprise a substantial part of the galactic cosmic ray (GCR) spectra that would be encountered during long-term space flights. Moreover, predictions of the delayed genetic effects of high linear energy transfer (LET) exposure is becoming more important as heavy ion therapy use is increasing. This work focuses mainly on the basic research on the delayed effects of HZE ions on V79 Chinese hamster cells, with emphasis on the induction of HPRT mutations after prolonged expression times (ET). The research was conducted under various irradiation conditions with accelerated ions O (E=35.2MeV/n), Ne (E=47.7MeV/n and 51.8MeV/n), and B (E=32.4MeV/n), with LET in the range from 49 to 149 keV/µm and with Co γ-rays. The HPRT mutant fractions (MF) were detected in irradiated cells in regular intervals during every cell culture recultivation (every 3days) up to approximately 40days (70-80 generations) after irradiation. The MF maximum was reached at different ET depending on ionizing radiation characteristics. The position of the maximum was shifting towards longer ET with increasing LET. We speculate that the delayed mutations are created de novo and that they are the manifestation of genomic instability. Although the exact mechanisms involved in genomic instability initiation are yet to be identified, we hypothesize that differences in induction of delayed mutations by radiations with various LET values are related to variations in energy deposition along the particle track. A dose dependence of mutation yield is discussed as well.
[Mh] Termos MeSH primário: Raios gama
Íons Pesados/efeitos adversos
Hipoxantina Fosforribosiltransferase/genética
Mutação
[Mh] Termos MeSH secundário: Animais
Linhagem Celular
Cricetinae
Cricetulus
Relação Dose-Resposta à Radiação
Fibroblastos/efeitos da radiação
Instabilidade Genômica/efeitos da radiação
Transferência Linear de Energia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171011
[Lr] Data última revisão:
171011
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170915
[St] Status:MEDLINE


  4 / 4330 MEDLINE  
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[PMID]:28712454
[Au] Autor:Gasperini M; Findlay GM; McKenna A; Milbank JH; Lee C; Zhang MD; Cusanovich DA; Shendure J
[Ad] Endereço:Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA. Electronic address: gasperim@uw.edu.
[Ti] Título:CRISPR/Cas9-Mediated Scanning for Regulatory Elements Required for HPRT1 Expression via Thousands of Large, Programmed Genomic Deletions.
[So] Source:Am J Hum Genet;101(2):192-205, 2017 Aug 03.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The extent to which non-coding mutations contribute to Mendelian disease is a major unknown in human genetics. Relatedly, the vast majority of candidate regulatory elements have yet to be functionally validated. Here, we describe a CRISPR-based system that uses pairs of guide RNAs (gRNAs) to program thousands of kilobase-scale deletions that deeply scan across a targeted region in a tiling fashion ("ScanDel"). We applied ScanDel to HPRT1, the housekeeping gene underlying Lesch-Nyhan syndrome, an X-linked recessive disorder. Altogether, we programmed 4,342 overlapping 1 and 2 kb deletions that tiled 206 kb centered on HPRT1 (including 87 kb upstream and 79 kb downstream) with median 27-fold redundancy per base. We functionally assayed programmed deletions in parallel by selecting for loss of HPRT function with 6-thioguanine. As expected, sequencing gRNA pairs before and after selection confirmed that all HPRT1 exons are needed. However, HPRT1 function was robust to deletion of any intergenic or deeply intronic non-coding region, indicating that proximal regulatory sequences are sufficient for HPRT1 expression. Although our screen did identify the disruption of exon-proximal non-coding sequences (e.g., the promoter) as functionally consequential, long-read sequencing revealed that this signal was driven by rare, imprecise deletions that extended into exons. Our results suggest that no singular distal regulatory element is required for HPRT1 expression and that distal mutations are unlikely to contribute substantially to Lesch-Nyhan syndrome burden. Further application of ScanDel could shed light on the role of regulatory mutations in disease at other loci while also facilitating a deeper understanding of endogenous gene regulation.
[Mh] Termos MeSH primário: Sistemas CRISPR-Cas/genética
Regulação da Expressão Gênica/genética
Hipoxantina Fosforribosiltransferase/genética
Sequências Reguladoras de Ácido Nucleico/genética
Deleção de Sequência/genética
[Mh] Termos MeSH secundário: Linhagem Celular
Células HEK293
Seres Humanos
Hipoxantina Fosforribosiltransferase/biossíntese
Síndrome de Lesch-Nyhan/genética
RNA Guia/genética
Tioguanina/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (RNA, Guide); EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase); FTK8U1GZNX (Thioguanine)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170907
[Lr] Data última revisão:
170907
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170718
[St] Status:MEDLINE


  5 / 4330 MEDLINE  
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[PMID]:28671969
[Au] Autor:Samiullah S; Roberts J; Wu SB
[Ad] Endereço:Animal Science, School of Environmental and Rural Science, University of New England, Armidale, New South Wales, Australia.
[Ti] Título:Reference gene selection for the shell gland of laying hens in response to time-points of eggshell formation and nicarbazin.
[So] Source:PLoS One;12(7):e0180432, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Ten reference genes were investigated for normalization of gene expression data in the shell gland of laying hens. Analyses performed with geNorm revealed that hypoxanthine phosphoribosyltransferase 1 (HPRT1) and hydroxymethylbilane synthase (HMBS) were the two most stable reference genes in response to post-oviposition time alone (POT) or with nicarbazin treatment (POT+N) of laying hens. NormFinder analyses showed that the two most stable reference genes in response to POT and POT+N were 18S ribosomal RNA (18S rRNA), ribosomal protein L4 (RPL4) and HMBS, RPL4, respectively. BestKeeper analyses showed that 18S rRNA, RPL4 and HPRT1, HMBS were the two most stable reference genes for POT, and POT+N, respectively. Of the ten reference genes, all except B2M showed geNorm M <0.5, suggesting that they were stably expressed in the shell gland tissue. Consensus from these three programs suggested HPRT1 and HMBS could be used as the two most stable reference genes in the present study. Expression analyses of four candidate target genes with the two most and the two least stable genes showed that a combination of stable reference genes leads to more discriminable quantification of expression levels of target genes, while the least stable genes failed to do so. Therefore, HMBS and HPRT1 are recommended as the two most stable reference genes for the normalization of gene expression data at different stages of eggshell formation in brown-egg laying hens. Available statistical programs for reference gene ranking should include more robust analysis capability to analyse the gene expression data generated from factorial design experiments.
[Mh] Termos MeSH primário: Galinhas/fisiologia
Casca de Ovo
Regulação Enzimológica da Expressão Gênica/efeitos dos fármacos
Hidroximetilbilano Sintase/genética
Hipoxantina Fosforribosiltransferase/genética
Nicarbazina/farmacologia
[Mh] Termos MeSH secundário: Animais
Galinhas/genética
Feminino
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
11P9NUA12U (Nicarbazin); EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase); EC 2.5.1.61 (Hydroxymethylbilane Synthase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171006
[Lr] Data última revisão:
171006
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170704
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0180432


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[PMID]:28666380
[Au] Autor:Luo W; Galvan DL; Woodard LE; Dorset D; Levy S; Wilson MH
[Ad] Endereço:Department of Veterans Affairs, Nashville, TN 37212 USA and Department of Medicine, Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
[Ti] Título:Comparative analysis of chimeric ZFP-, TALE- and Cas9-piggyBac transposases for integration into a single locus in human cells.
[So] Source:Nucleic Acids Res;45(14):8411-8422, 2017 Aug 21.
[Is] ISSN:1362-4962
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Integrating DNA delivery systems hold promise for many applications including treatment of diseases; however, targeted integration is needed for improved safety. The piggyBac (PB) transposon system is a highly active non-viral gene delivery system capable of integrating defined DNA segments into host chromosomes without requiring homologous recombination. We systematically compared four different engineered zinc finger proteins (ZFP), four transcription activator-like effector proteins (TALE), CRISPR associated protein 9 (SpCas9) and the catalytically inactive dSpCas9 protein fused to the amino-terminus of the transposase enzyme designed to target the hypoxanthine phosphoribosyltransferase (HPRT) gene located on human chromosome X. Chimeric transposases were evaluated for expression, transposition activity, chromatin immunoprecipitation at the target loci, and targeted knockout of the HPRT gene in human cells. One ZFP-PB and one TALE-PB chimera demonstrated notable HPRT gene targeting. In contrast, Cas9/dCas9-PB chimeras did not result in gene targeting. Instead, the HPRT locus appeared to be protected from transposon integration. Supplied separately, PB permitted highly efficient isolation of Cas9-mediated knockout of HPRT, with zero transposon integrations in HPRT by deep sequencing. In summary, these tools may allow isolation of 'targeted-only' cells, be utilized to protect a genomic locus from transposon integration, and enrich for Cas9-mutated cells.
[Mh] Termos MeSH primário: Técnicas de Inativação de Genes/métodos
Marcação de Genes/métodos
Técnicas de Transferência de Genes
Mutagênese Insercional/métodos
[Mh] Termos MeSH secundário: Proteínas de Bactérias/genética
Sistemas CRISPR-Cas/genética
Linhagem Celular Tumoral
Elementos de DNA Transponíveis/genética
Endonucleases/genética
Seres Humanos
Hipoxantina Fosforribosiltransferase/genética
Hipoxantina Fosforribosiltransferase/metabolismo
Proteínas Recombinantes de Fusão/genética
Reprodutibilidade dos Testes
Nucleases dos Efetores Semelhantes a Ativadores de Transcrição/genética
Efetores Semelhantes a Ativadores de Transcrição/genética
Transposases/genética
Dedos de Zinco/genética
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Bacterial Proteins); 0 (DNA Transposable Elements); 0 (Recombinant Fusion Proteins); 0 (Transcription Activator-Like Effectors); EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase); EC 2.7.7.- (Transposases); EC 3.1.- (Cas9 endonuclease Streptococcus pyogenes); EC 3.1.- (Endonucleases); EC 3.1.- (Transcription Activator-Like Effector Nucleases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170702
[St] Status:MEDLINE
[do] DOI:10.1093/nar/gkx572


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[PMID]:28628279
[Au] Autor:Kaiser MM; Baszczynski O; Hocková D; Postová-Slavetínská L; Dracínský M; Keough DT; Guddat LW; Janeba Z
[Ad] Endereço:The Institute of Organic Chemistry and Biochemistry of the Czech Academy of Sciences, Flemingovo nám. 2, 16610, Prague 6, Czech Republic.
[Ti] Título:Acyclic Nucleoside Phosphonates Containing 9-Deazahypoxanthine and a Five-Membered Heterocycle as Selective Inhibitors of Plasmodial 6-Oxopurine Phosphoribosyltransferases.
[So] Source:ChemMedChem;12(14):1133-1141, 2017 Jul 20.
[Is] ISSN:1860-7187
[Cp] País de publicação:Germany
[La] Idioma:eng
[Ab] Resumo:Acyclic nucleoside phosphonates (ANPs) are an important class of therapeutic drugs that act as antiviral agents by inhibiting viral DNA polymerases and reverse transcriptases. ANPs containing a 6-oxopurine unit instead of a 6-aminopurine or pyrimidine base are inhibitors of the purine salvage enzyme, hypoxanthine-guanine-[xanthine] phosphoribosyltransferase (HG[X]PRT). Such compounds, and their prodrugs, are able to arrest the growth of Plasmodium falciparum (Pf) in cell culture. A new series of ANPs were synthesized and tested as inhibitors of human HGPRT, PfHGXPRT, and Plasmodium vivax (Pv) HGPRT. The novelty of these compounds is that they contain a five-membered heterocycle (imidazoline, imidazole, or triazole) inserted between the acyclic linker(s) and the nucleobase, namely, 9-deazahypoxanthine. Five of the compounds were found to be micromolar inhibitors of PfHGXPRT and PvHGPRT, but no inhibition of human HGPRT was observed under the same assay conditions. This demonstrates selectivity of these types of compounds for the two parasitic enzymes compared to the human counterpart and confirms the importance of the chemical nature of the acyclic moiety in conferring affinity/selectivity for these three enzymes.
[Mh] Termos MeSH primário: Antimaláricos/síntese química
Hipoxantinas/química
Nucleosídeos/síntese química
Organofosfonatos/síntese química
Pentosiltransferases/antagonistas & inibidores
Plasmodium falciparum/enzimologia
Plasmodium vivax/enzimologia
[Mh] Termos MeSH secundário: Antimaláricos/química
Seres Humanos
Hipoxantina Fosforribosiltransferase/antagonistas & inibidores
Modelos Moleculares
Nucleosídeos/química
Organofosfonatos/química
Relação Estrutura-Atividade
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (9-deazahypoxanthine); 0 (Antimalarials); 0 (Hypoxanthines); 0 (Nucleosides); 0 (Organophosphonates); EC 2.4.2.- (Pentosyltransferases); EC 2.4.2.- (hypoxanthine-guanine-xanthine phosphoribosyltransferase); EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170925
[Lr] Data última revisão:
170925
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170620
[St] Status:MEDLINE
[do] DOI:10.1002/cmdc.201700293


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[PMID]:28591185
[Au] Autor:Gholami K; Loh SY; Salleh N; Lam SK; Hoe SZ
[Ad] Endereço:Division of Human Biology, School of Medicine, International Medical University, Kuala Lumpur, Malaysia.
[Ti] Título:Selection of suitable endogenous reference genes for qPCR in kidney and hypothalamus of rats under testosterone influence.
[So] Source:PLoS One;12(6):e0176368, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Real-time quantitative PCR (qPCR) is the most reliable and accurate technique for analyses of gene expression. Endogenous reference genes are being used to normalize qPCR data even though their expression may vary under different conditions and in different tissues. Nonetheless, verification of expression of reference genes in selected studied tissue is essential in order to accurately assess the level of expression of target genes of interest. Therefore, in this study, we attempted to examine six commonly used reference genes in order to identify the gene being expressed most constantly under the influence of testosterone in the kidneys and hypothalamus. The reference genes include glyceraldehyde-3-phosphate dehydrogenase (GAPDH), actin beta (ACTB), beta-2 microglobulin (B2m), hypoxanthine phosphoribosyltransferase 1 (HPRT), peptidylprolylisomerase A (Ppia) and hydroxymethylbilane synthase (Hmbs). The cycle threshold (Ct) value for each gene was determined and data obtained were analyzed using the software programs NormFinder, geNorm, BestKeeper, and rank aggregation. Results showed that Hmbs and Ppia genes were the most stably expressed in the hypothalamus. Meanwhile, in kidneys, Hmbs and GAPDH appeared to be the most constant genes. In conclusion, variations in expression levels of reference genes occur in kidneys and hypothalamus under similar conditions; thus, it is important to verify reference gene levels in these tissues prior to commencing any studies.
[Mh] Termos MeSH primário: Perfilação da Expressão Gênica/métodos
Hipotálamo/metabolismo
Rim/metabolismo
Reação em Cadeia da Polimerase em Tempo Real/métodos
[Mh] Termos MeSH secundário: Actinas/biossíntese
Animais
Regulação da Expressão Gênica/genética
Gliceraldeído-3-Fosfato Desidrogenases/biossíntese
Hidroximetilbilano Sintase/biossíntese
Hipotálamo/efeitos dos fármacos
Hipoxantina Fosforribosiltransferase/biossíntese
Rim/efeitos dos fármacos
Peptidilprolil Isomerase/biossíntese
Ratos
Padrões de Referência
Testosterona/administração & dosagem
Microglobulina-2 beta/biossíntese
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Actins); 0 (beta 2-Microglobulin); 3XMK78S47O (Testosterone); EC 1.2.1.- (Glyceraldehyde-3-Phosphate Dehydrogenases); EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase); EC 2.5.1.61 (Hydroxymethylbilane Synthase); EC 5.2.1.8 (Peptidylprolyl Isomerase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170914
[Lr] Data última revisão:
170914
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170608
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0176368


  9 / 4330 MEDLINE  
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[PMID]:28582546
[Au] Autor:Baker O; Tsurkan S; Fu J; Klink B; Rump A; Obst M; Kranz A; Schröck E; Anastassiadis K; Stewart AF
[Ad] Endereço:Stem Cell Engineering, Biotechnology Center, Technische Universität Dresden, BioInnovationsZentrum, Tatzberg 47, Dresden 01307, Germany.
[Ti] Título:The contribution of homology arms to nuclease-assisted genome engineering.
[So] Source:Nucleic Acids Res;45(13):8105-8115, 2017 Jul 27.
[Is] ISSN:1362-4962
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Designer nucleases like CRISPR/Cas9 enable fluent site-directed damage or small mutations in many genomes. Strategies for their use to achieve more complex tasks like regional exchanges for gene humanization or the establishment of conditional alleles are still emerging. To optimize Cas9-assisted targeting, we measured the relationship between targeting frequency and homology length in targeting constructs using a hypoxanthine-guanine phosphoribosyl-transferase assay in mouse embryonic stem cells. Targeting frequency with supercoiled plasmids improved steeply up to 2 kb total homology and continued to increase with even longer homology arms, thereby implying that Cas9-assisted targeting efficiencies can be improved using homology arms of 1 kb or greater. To humanize the Kmt2d gene, we built a hybrid mouse/human targeting construct in a bacterial artificial chromosome by recombineering. To simplify the possible outcomes, we employed a single Cas9 cleavage strategy and best achieved the intended 42 kb regional exchange with a targeting construct including a very long homology arm to recombine ∼42 kb away from the cleavage site. We recommend the use of long homology arm targeting constructs for accurate and efficient complex genome engineering, particularly when combined with the simplifying advantages of using just one Cas9 cleavage at the genome target site.
[Mh] Termos MeSH primário: Sistemas CRISPR-Cas
Engenharia Genética/métodos
[Mh] Termos MeSH secundário: Animais
Cromossomos Artificiais Bacterianos/genética
Proteínas de Ligação a DNA/genética
Células-Tronco Embrionárias/metabolismo
Endonucleases/metabolismo
Marcação de Genes
Seres Humanos
Hibridização Genética
Hipoxantina Fosforribosiltransferase/genética
Camundongos
Mutação
Proteína de Leucina Linfoide-Mieloide/genética
Proteínas de Neoplasias/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA-Binding Proteins); 0 (MLL2 protein, human); 0 (Mll2 protein, mouse); 0 (Neoplasm Proteins); 149025-06-9 (Myeloid-Lymphoid Leukemia Protein); EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase); EC 3.1.- (Endonucleases)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170606
[St] Status:MEDLINE
[do] DOI:10.1093/nar/gkx497


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[PMID]:28524722
[Au] Autor:Nguyen KV; Silva S; Troncoso M; Naviaux RK; Nyhan WL
[Ad] Endereço:a Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine , University of California , San Diego , California , USA.
[Ti] Título:Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene.
[So] Source:Nucleosides Nucleotides Nucleic Acids;36(7):452-462, 2017 Jul 03.
[Is] ISSN:1532-2335
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report two independent point mutations leading to splicing errors: IVS 2 +1G>A, c.134 +1G>A, and IVS 3 +1G>A, c.318 +1G>A in the hypoxanthine-phosphoribosyltransferase1 (HPRT1) gene which result in exclusion of exon 2 and exon 3 respectively, in the HGprt enzyme protein from different members of two Chiloé Island families. Molecular analysis has revealed the heterogeneity of genetic mutation of the HPRT1 gene responsible for the HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.
[Mh] Termos MeSH primário: Hipoxantina Fosforribosiltransferase/genética
Ilhas
Síndrome de Lesch-Nyhan/enzimologia
Síndrome de Lesch-Nyhan/genética
Mutação
Linhagem
[Mh] Termos MeSH secundário: Adolescente
Adulto
Sequência de Bases
Chile
Éxons/genética
Feminino
Seres Humanos
Masculino
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170520
[St] Status:MEDLINE
[do] DOI:10.1080/15257770.2017.1315434



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