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  1 / 1867 MEDLINE  
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[PMID]:29226984
[Au] Autor:Shah K; Nasir A; Irfanullah; Shahzad S; Khan S; Ahmad W
[Ad] Endereço:Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University (QAU), Islamabad, Pakistan.
[Ti] Título:A novel homozygous mutation disrupting the initiation codon in the SLURP1 gene underlies mal de Meleda in a consanguineous family.
[So] Source:Clin Exp Dermatol;41(6):675-679, 2016 Aug.
[Is] ISSN:1365-2230
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mal de Meleda (MDM) is a palmoplantar keratoderma (PPK), characterized by hyperkeratosis of the palms and soles, and keratotic skin lesions. Patients with MDM can develop perioral erythema, keratotic and lichenoid plaques over the joints (including the elbows and knees), nail abnormalities, joint contractures and stiffness, brachydactyly, sclerodactyly, pseudoainhum, and malodorous maceration. MDM is associated with mutations in the SLURP1 gene. We report a consanguineous family in which MDM was inherited in an autosomal recessive manner. Genotyping using microsatellite markers established linkage in the family to the SLURP1 gene, which has been mapped previously to chromosome 8q24.3. Sequence analysis revealed a homozygous missense mutation (c.2T>C, p.Met1Thr) in affected family members. Molecular docking studies using a ZDOCK server predicted disruption of binding of the mutant variant to its target α7-nAChR. This study further supports the previously reported findings that homozygous mutations in the SLURP1 gene cause MDM.
[Mh] Termos MeSH primário: Antígenos Ly/genética
Códon de Iniciação/genética
Ceratodermia Palmar e Plantar/genética
Mutação de Sentido Incorreto
Ativador de Plasminogênio Tipo Uroquinase/genética
[Mh] Termos MeSH secundário: Antígenos Ly/química
Consanguinidade
Seres Humanos
Linhagem
Estrutura Terciária de Proteína
Ativador de Plasminogênio Tipo Uroquinase/química
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, Ly); 0 (Codon, Initiator); 0 (SLURP1 protein, human); EC 3.4.21.73 (Urokinase-Type Plasminogen Activator)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180117
[Lr] Data última revisão:
180117
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171212
[St] Status:MEDLINE
[do] DOI:10.1111/ced.12864


  2 / 1867 MEDLINE  
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[PMID]:28934492
[Au] Autor:Du Z; Alekhina OM; Vassilenko KS; Simon AE
[Ad] Endereço:Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD 20742, USA.
[Ti] Título:Concerted action of two 3' cap-independent translation enhancers increases the competitive strength of translated viral genomes.
[So] Source:Nucleic Acids Res;45(16):9558-9572, 2017 Sep 19.
[Is] ISSN:1362-4962
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Several families of plant viruses evolved cap-independent translation enhancers (3'CITE) in the 3' untranslated regions of their genomic (g)RNAs to compete with ongoing cap-dependent translation of cellular mRNAs. Umbravirus Pea enation mosaic virus (PEMV)2 is the only example where three 3'CITEs enhance translation: the eIF4E-binding Panicum mosaic virus-like translational enhancer (PTE) and ribosome-binding 3' T-shaped structure (TSS) have been found in viruses of different genera, while the ribosome-binding kl-TSS that provides a long-distance interaction with the 5' end is unique. We report that the PTE is the key translation promoting element, but inhibits translation in cis and in trans in the absence of the kl-TSS by sequestering initiation factor eIF4G. PEMV2 strongly outcompeted a cellular mRNA mimic for translation, indicating that the combination of kl-TSS and PTE is highly efficient. Transferring the 3'-5' interaction from the kl-TSS to the PTE (to fulfill its functionality as found in other viruses) supported translationin vitro, but gRNA did not accumulate to detectable levels in protoplasts in the absence of the kl-TSS. It was shown that the PTE in conjunction with the kl-TSS did not markedly affect the translation initiation rate but rather increased the number of gRNAs available for translation. A model is proposed to explain how 3'CITE-based regulation of ribosome recruitment enhances virus fitness.
[Mh] Termos MeSH primário: Elementos Facilitadores Genéticos
Genoma Viral
Luteoviridae/genética
Capuzes de RNA/genética
[Mh] Termos MeSH secundário: Arabidopsis/virologia
Códon de Iniciação
Fator de Iniciação 4G em Eucariotos/genética
Fator de Iniciação 4G em Eucariotos/metabolismo
Luteoviridae/metabolismo
Polirribossomos/metabolismo
Biossíntese de Proteínas
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Initiator); 0 (Eukaryotic Initiation Factor-4G); 0 (RNA Caps)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171024
[Lr] Data última revisão:
171024
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170922
[St] Status:MEDLINE
[do] DOI:10.1093/nar/gkx643


  3 / 1867 MEDLINE  
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[PMID]:28865289
[Au] Autor:Frank EG; McLenigan MP; McDonald JP; Huston D; Mead S; Woodgate R
[Ad] Endereço:Laboratory of Genomic Integrity, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-3371, USA.
[Ti] Título:DNA polymerase ι: The long and the short of it!
[So] Source:DNA Repair (Amst);58:47-51, 2017 Oct.
[Is] ISSN:1568-7856
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:The cDNA encoding human DNA polymerase ι (POLI) was cloned in 1999. At that time, it was believed that the POLI gene encoded a protein of 715 amino acids. Advances in DNA sequencing technologies led to the realization that there is an upstream, in-frame initiation codon that would encode a DNA polymerase ι (polι) protein of 740 amino acids. The extra 25 amino acid region is rich in acidic residues (11/25) and is reasonably conserved in eukaryotes ranging from fish to humans. As a consequence, the curated Reference Sequence (RefSeq) database identified polι as a 740 amino acid protein. However, the existence of the 740 amino acid polι has never been shown experimentally. Using highly specific antibodies to the 25 N-terminal amino acids of polι, we were unable to detect the longer 740 amino acid (ι-long) isoform in western blots. However, trace amounts of the ι-long isoform were detected after enrichment by immunoprecipitation. One might argue that the longer isoform may have a distinct biological function, if it exhibits significant differences in its enzymatic properties from the shorter, well-characterized 715 amino acid polι. We therefore purified and characterized recombinant full-length (740 amino acid) polι-long and compared it to full-length (715 amino acid) polι-short in vitro. The metal ion requirements for optimal catalytic activity differ slightly between ι-long and ι-short, but under optimal conditions, both isoforms exhibit indistinguishable enzymatic properties in vitro. We also report that like ι-short, the ι-long isoform can be monoubiquitinated and polyubiuquitinated in vivo, as well as form damage induced foci in vivo. We conclude that the predominant isoform of DNA polι in human cells is the shorter 715 amino acid protein and that if, or when, expressed, the longer 740 amino acid isoform has identical properties to the considerably more abundant shorter isoform.
[Mh] Termos MeSH primário: Códon de Iniciação
Reparo do DNA
Replicação do DNA
DNA Polimerase Dirigida por DNA/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
DNA/metabolismo
DNA Polimerase Dirigida por DNA/química
DNA Polimerase Dirigida por DNA/metabolismo
Seres Humanos
Isoenzimas
Ubiquitinação
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Initiator); 0 (Isoenzymes); 9007-49-2 (DNA); EC 2.7.7.- (DNA polymerase iota); EC 2.7.7.7 (DNA-Directed DNA Polymerase)
[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:170903
[St] Status:MEDLINE


  4 / 1867 MEDLINE  
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[PMID]:28734047
[Au] Autor:Baumann M; Gludovacz E; Sealover N; Bahr S; George H; Lin N; Kayser K; Borth N
[Ad] Endereço:Austrian Centre of Industrial Biotechnology (ACIB), Graz, Austria.
[Ti] Título:Preselection of recombinant gene integration sites enabling high transcription rates in CHO cells using alternate start codons and recombinase mediated cassette exchange.
[So] Source:Biotechnol Bioeng;114(11):2616-2627, 2017 Nov.
[Is] ISSN:1097-0290
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Site-specific recombinase mediated cassette exchange (RMCE) enables the transfer of the gene of interest (GOI) into pre-selected genomic locations with defined expression properties. For the generation of recombinant production cell lines, this has the advantage that screening for high transcription rates at the genome integration site would be required only once, with the possibility to reuse the selected site for new products. Here, we describe a strategy that aims at the selection of transcriptionally active genome integration sites in Chinese Hamster Ovary (CHO) cells by using alternate start codons in the surface reporter protein CD4, in combination with FACS sorting for high expressers. The alternate start codon reduces the translation initiation efficiency and allows sorting for CHO cells with the highest transcription rates, while RMCE enables the subsequent exchange of the CD4 against the GOI. We have shown that sorted cell pools with the CD4 reporter gene containing the alternate start codon CTG lead to higher GFP signals and higher antibody titers upon RMCE as compared to cell pools containing the ATG start codon of the CD4 reporter. Despite the absence of any subcloning step, the final cell pool contained the CD4 gene in a single genome integration site.
[Mh] Termos MeSH primário: Anticorpos Monoclonais/biossíntese
Anticorpos Monoclonais/genética
Códon de Iniciação/genética
DNA Nucleotidiltransferases/genética
Técnicas de Transferência de Genes
Proteínas Recombinantes/genética
Ativação Transcricional/genética
[Mh] Termos MeSH secundário: Animais
Células CHO
Cricetinae
Cricetulus
Marcação de Genes/métodos
Engenharia de Proteínas/métodos
Transgenes/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies, Monoclonal); 0 (Codon, Initiator); 0 (Recombinant Proteins); EC 2.7.7.- (DNA Nucleotidyltransferases); EC 2.7.7.- (Site-specific recombinase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171109
[Lr] Data última revisão:
171109
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170723
[St] Status:MEDLINE
[do] DOI:10.1002/bit.26388


  5 / 1867 MEDLINE  
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[PMID]:28653885
[Au] Autor:Ali MU; Ur Rahman MS; Jia Z; Jiang C
[Ad] Endereço:1 Clinical Research Center, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.
[Ti] Título:Eukaryotic translation initiation factors and cancer.
[So] Source:Tumour Biol;39(6):1010428317709805, 2017 Jun.
[Is] ISSN:1423-0380
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Recent technological advancements have shown tremendous mechanistic accomplishments in our understanding of the mechanism of messenger RNA translation in eukaryotic cells. Eukaryotic messenger RNA translation is very complex process that includes four phases (initiation, elongation, termination, and ribosome recycling) and diverse mechanisms involving protein and non-protein molecules. Translation regulation is principally achieved during initiation step of translation, which is organized by multiple eukaryotic translation initiation factors. Eukaryotic translation initiation factor proteins help in stabilizing the formation of the functional ribosome around the start codon and provide regulatory mechanisms in translation initiation. Dysregulated messenger RNA translation is a common feature of tumorigenesis. Various oncogenic and tumor suppressive genes affect/are affected by the translation machinery, making the components of the translation apparatus promising therapeutic targets for the novel anticancer drug. This review provides details on the role of eukaryotic translation initiation factors in messenger RNA translation initiation, their contribution to onset and progression of tumor, and how dysregulated eukaryotic translation initiation factors can be used as a target to treat carcinogenesis.
[Mh] Termos MeSH primário: Carcinogênese
Fatores de Iniciação em Eucariotos/genética
Neoplasias/genética
Biossíntese de Proteínas
[Mh] Termos MeSH secundário: Códon de Iniciação/genética
Regulação da Expressão Gênica
Seres Humanos
Neoplasias/tratamento farmacológico
Neoplasias/patologia
Ribossomos/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Initiator); 0 (Eukaryotic Initiation Factors)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170713
[Lr] Data última revisão:
170713
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170628
[St] Status:MEDLINE
[do] DOI:10.1177/1010428317709805


  6 / 1867 MEDLINE  
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[PMID]:28575317
[Au] Autor:Chengguang H; Sabatini P; Brandi L; Giuliodori AM; Pon CL; Gualerzi CO
[Ad] Endereço:College of Life Sciences, Engineering Research Centre of the Chinese Ministry of Education for Bioreactor and Pharmaceutical Development, Jilin Agricultural University, Changchun 130118, Jilin, China.
[Ti] Título:Ribosomal selection of mRNAs with degenerate initiation triplets.
[So] Source:Nucleic Acids Res;45(12):7309-7325, 2017 Jul 07.
[Is] ISSN:1362-4962
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:To assess the influence of degenerate initiation triplets on mRNA recruitment by ribosomes, five mRNAs identical but for their start codon (AUG, GUG, UUG, AUU and AUA) were offered to a limiting amount of ribosomes, alone or in competition with an identical AUGmRNA bearing a mutation conferring different electrophoretic mobility to the product. Translational efficiency and competitiveness of test mRNAs toward this AUGmRNA were determined quantifying the relative amounts of the electrophoretically separated wt and mutated products synthesized in vitro and found to be influenced to different extents by the nature of their initiation triplet and by parameters such as temperature and nutrient availability in the medium. The behaviors of AUAmRNA, UUGmRNA and AUGmRNA were the same between 20 and 40°C whereas the GUG and AUUmRNAs were less active and competed poorly with the AUGmRNA, especially at low temperature. Nutrient limitation and preferential inhibition by ppGpp severely affected activity and competitiveness of all mRNAs bearing non-AUG starts, the UUGmRNA being the least affected. Overall, our data indicate that beyond these effects exclusively due to the degenerate start codons within an optimized translational initiation region, an important role is played by the context in which the rare start codons are present.
[Mh] Termos MeSH primário: Códon de Iniciação
Escherichia coli/genética
Iniciação Traducional da Cadeia Peptídica
Fator de Iniciação 1 em Procariotos/genética
RNA Mensageiro/genética
[Mh] Termos MeSH secundário: Ligação Competitiva
Escherichia coli/química
Escherichia coli/metabolismo
Cinética
Mutação
Fator de Iniciação 1 em Procariotos/metabolismo
RNA Mensageiro/metabolismo
Ribossomos/genética
Ribossomos/metabolismo
Frações Subcelulares/química
Temperatura Ambiente
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Initiator); 0 (Prokaryotic Initiation Factor-1); 0 (RNA, Messenger)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171017
[Lr] Data última revisão:
171017
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170603
[St] Status:MEDLINE
[do] DOI:10.1093/nar/gkx472


  7 / 1867 MEDLINE  
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[PMID]:28541577
[Au] Autor:Fijalkowska D; Verbruggen S; Ndah E; Jonckheere V; Menschaert G; Van Damme P
[Ad] Endereço:VIB-UGent Center for Medical Biotechnology, B-9000 Ghent, Belgium.
[Ti] Título:eIF1 modulates the recognition of suboptimal translation initiation sites and steers gene expression via uORFs.
[So] Source:Nucleic Acids Res;45(13):7997-8013, 2017 Jul 27.
[Is] ISSN:1362-4962
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Alternative translation initiation mechanisms such as leaky scanning and reinitiation potentiate the polycistronic nature of human transcripts. By allowing for reprogrammed translation, these mechanisms can mediate biological responses to stimuli. We combined proteomics with ribosome profiling and mRNA sequencing to identify the biological targets of translation control triggered by the eukaryotic translation initiation factor 1 (eIF1), a protein implicated in the stringency of start codon selection. We quantified expression changes of over 4000 proteins and 10 000 actively translated transcripts, leading to the identification of 245 transcripts undergoing translational control mediated by upstream open reading frames (uORFs) upon eIF1 deprivation. Here, the stringency of start codon selection and preference for an optimal nucleotide context were largely diminished leading to translational upregulation of uORFs with suboptimal start. Interestingly, genes affected by eIF1 deprivation were implicated in energy production and sensing of metabolic stress.
[Mh] Termos MeSH primário: Fatores de Iniciação em Eucariotos/metabolismo
Proteínas de Neoplasias/metabolismo
Proteínas do Tecido Nervoso/metabolismo
Iniciação Traducional da Cadeia Peptídica
[Mh] Termos MeSH secundário: Linhagem Celular
Códon de Iniciação
Metabolismo Energético/genética
Fatores de Iniciação em Eucariotos/antagonistas & inibidores
Fatores de Iniciação em Eucariotos/genética
Expressão Gênica
Técnicas de Silenciamento de Genes
Células HCT116
Seres Humanos
Proteínas de Neoplasias/antagonistas & inibidores
Proteínas de Neoplasias/genética
Proteínas do Tecido Nervoso/antagonistas & inibidores
Proteínas do Tecido Nervoso/genética
Conformação de Ácido Nucleico
Fases de Leitura Aberta
RNA Mensageiro/química
RNA Mensageiro/genética
RNA Mensageiro/metabolismo
Ribossomos/genética
Ribossomos/metabolismo
Estresse Fisiológico/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Initiator); 0 (EIF1 protein, human); 0 (Eukaryotic Initiation Factors); 0 (Neoplasm Proteins); 0 (Nerve Tissue Proteins); 0 (RNA, Messenger)
[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:170526
[St] Status:MEDLINE
[do] DOI:10.1093/nar/gkx469


  8 / 1867 MEDLINE  
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[PMID]:28442192
[Au] Autor:Hinnebusch AG
[Ad] Endereço:Laboratory of Gene Regulation and Development, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: ahinnebusch@nih.gov.
[Ti] Título:Structural Insights into the Mechanism of Scanning and Start Codon Recognition in Eukaryotic Translation Initiation.
[So] Source:Trends Biochem Sci;42(8):589-611, 2017 Aug.
[Is] ISSN:0968-0004
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Initiation of translation on eukaryotic mRNAs generally follows the scanning mechanism, wherein a preinitiation complex (PIC) assembled on the small (40S) ribosomal subunit and containing initiator methionyl tRNA (Met-tRNA ) scans the mRNA leader for an AUG codon. In a current model, the scanning PIC adopts an open conformation and rearranges to a closed state, with fully accommodated Met-tRNA , upon AUG recognition. Evidence from recent high-resolution structures of PICs assembled with different ligands supports this model and illuminates the molecular functions of eukaryotic initiation factors eIF1, eIF1A, and eIF2 in restricting to AUG codons the transition to the closed conformation. They also reveal that the eIF3 complex interacts with multiple functional sites in the PIC, rationalizing its participation in numerous steps of initiation.
[Mh] Termos MeSH primário: Códon de Iniciação/genética
Fatores de Iniciação em Eucariotos/metabolismo
Iniciação Traducional da Cadeia Peptídica
RNA Mensageiro/genética
Ribossomos/química
Ribossomos/metabolismo
[Mh] Termos MeSH secundário: RNA Mensageiro/metabolismo
Ribossomos/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Codon, Initiator); 0 (Eukaryotic Initiation Factors); 0 (RNA, Messenger)
[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:170427
[St] Status:MEDLINE


  9 / 1867 MEDLINE  
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[PMID]:28384231
[Au] Autor:Hu C; Zhang C; Sun L; Zhang Y; Xie W; Zhang B; Chang Q
[Ad] Endereço:Analytical and Testing Center, Nanjing Normal University, Nanjing, Jiangsu, People's Republic of China.
[Ti] Título:The mitochondrial genome of pin-tailed snipe Gallinago stenura, and its implications for the phylogeny of Charadriiformes.
[So] Source:PLoS One;12(4):e0175244, 2017.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:The Charadriiformes, among the most diverse orders of bird, is a good source to research on evolution. The mitochondrial genome sequencing database has rapidly increased in recent years, while Charadriiformes mitogenome has not been well studied. In this research, we determined the complete mitogenome sequence of Gallinago stenura, and comparatively analysed 20 mitogenomes of Charadriiformes. The mitogenomes display moderate size variation, and most of variation due to mutations in the control region. In 13 protein-coding genes, we found: 1. The GC skews are always negative, while the negative AT skews are found in 5 genes, 2. The average uncorrected pairwise distances reveal heterogeneity of evolutionary rate for each gene, 3. The ATG and TAA, respectively, are observed the most commonly start and stop codon. The highest dN/dS is detected for ATP8 (0.16) among Charadriiformes, while the lowest for COI (0.01), indicating that 13 protein-coding genes are evolving under the purifying selection. Predicted secondary structures of tRNAs indicate that the sequences and structures of anticodon, amino acceptor, and TψC arms are highly conserved, and most nucleotide variation is restricted to dihydrouridine arms with obvious indel polymorphisms. A total of 15 conserved sequence boxes were recognized in the control regions, and the 4 bp (5'-AAAC-3') and 7 bp (5'- AAACAAC -3') repeat sequences occurred frequently. Phylogenomic analysis based on the nearly complete mitochondrial genomes strongly supported the monophyly of the order, and the suborder Charadrii is at the basal of Charadriiformes. Moreover, our results well resolved the complexity family-level relationships and clearly depicted the evolutionary processes of Charadriiformes, based on 12 mitochondrial protein-coding genes from 18 families. This study improves our understanding of mitogenomic structure and evolution, which can provide further insights into our understanding of phylogeny and taxonomy in Charadriiformes.
[Mh] Termos MeSH primário: Aves/genética
Charadriiformes/genética
Genoma Mitocondrial
Filogenia
[Mh] Termos MeSH secundário: Animais
Aves/classificação
Códon de Iniciação
Códon de Terminação
Conformação de Ácido Nucleico
RNA de Transferência/química
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Codon, Initiator); 0 (Codon, Terminator); 9014-25-9 (RNA, Transfer)
[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:170407
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0175244


  10 / 1867 MEDLINE  
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[PMID]:28378819
[Au] Autor:Willemsen MA; Vissers LE; Verbeek MM; van Bon BW; Geuer S; Gilissen C; Klepper J; Kwint MP; Leen WG; Pennings M; Wevers RA; Veltman JA; Kamsteeg EJ
[Ad] Endereço:Department of Neurology (Paediatric Neurology), Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
[Ti] Título:Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.
[So] Source:Eur J Hum Genet;25(6):771-774, 2017 Jun.
[Is] ISSN:1476-5438
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal fluid. The disorder is caused by impaired glucose transport into the brain resulting from variants in SCL2A1. In 10% of GLUT1DS patients, a genetic diagnosis can not be made. Using whole-genome sequencing, we identified a de novo 5'-UTR variant in SLC2A1, generating a novel translation initiation codon, severely compromising SLC2A1 function. This finding expands our understanding of the disease mechanisms underlying GLUT1DS and encourages further in-depth analysis of SLC2A1 non-coding regions in patients without variants in the coding region.
[Mh] Termos MeSH primário: Erros Inatos do Metabolismo dos Carboidratos/genética
Códon de Iniciação/genética
Transportador de Glucose Tipo 1/genética
Proteínas de Transporte de Monossacarídeos/deficiência
[Mh] Termos MeSH secundário: Regiões 5' não Traduzidas
Adolescente
Erros Inatos do Metabolismo dos Carboidratos/diagnóstico
Células Cultivadas
Feminino
Transportador de Glucose Tipo 1/metabolismo
Seres Humanos
Proteínas de Transporte de Monossacarídeos/genética
Mutação
Iniciação Traducional da Cadeia Peptídica
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (5' Untranslated Regions); 0 (Codon, Initiator); 0 (Glucose Transporter Type 1); 0 (Monosaccharide Transport Proteins); 0 (SLC2A1 protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170912
[Lr] Data última revisão:
170912
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170406
[St] Status:MEDLINE
[do] DOI:10.1038/ejhg.2017.45



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