RESUMO
HLA-C*06:364 differs from HLA-C*06:02:01:01 by a non-synonymous nucleotide substitution in exon 3.
Assuntos
Alelos , Éxons , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Teste de Histocompatibilidade , Sequência de Bases , Análise de Sequência de DNA/métodos , Códon , Alinhamento de SequênciaRESUMO
The novel KIR2DL3*037 allele differs from the closest allele KIR2DL3*00101 by a single missense mutation.
Assuntos
Alelos , Povo Asiático , Mutação de Sentido Incorreto , Receptores KIR2DL3 , Análise de Sequência de DNA , Humanos , Povo Asiático/genética , Receptores KIR2DL3/genética , Análise de Sequência de DNA/métodos , Sequência de Bases , Éxons , Alinhamento de Sequência , Teste de Histocompatibilidade , Códon , População do Leste AsiáticoRESUMO
The novel KIR2DL3*00112 allele differs from the closest allele KIR2DL3*00101 by a single same sense mutation.
Assuntos
Alelos , Éxons , Receptores KIR2DL3 , Humanos , Receptores KIR2DL3/genética , Sequência de Bases , Análise de Sequência de DNA/métodos , Teste de Histocompatibilidade , Polimorfismo de Nucleotídeo Único , Mutação Puntual , Alinhamento de SequênciaRESUMO
One nucleotide substitution in codon 130 of HLA-DQB1*03:03:02:01 results in a novel allele HLA-DQB1*03:96.
Assuntos
Alelos , Códon , Éxons , Cadeias beta de HLA-DQ , Teste de Histocompatibilidade , Humanos , Cadeias beta de HLA-DQ/genética , Taiwan , Sequência de Bases , Povo Asiático/genética , Análise de Sequência de DNA/métodos , Polimorfismo de Nucleotídeo ÚnicoRESUMO
The telomere sequence, TTAGGG, is conserved across all vertebrates and plays an essential role in suppressing the DNA damage response by binding a set of proteins termed shelterin. Changes in the telomere sequence impair shelterin binding, initiate a DNA damage response, and are toxic to cells. Here we identify a family with a variant in the telomere template sequence of telomerase, the enzyme responsible for telomere elongation, that led to a non-canonical telomere sequence. The variant is inherited across at least one generation and one family member reports no significant medical concerns despite ~9% of their telomeres converting to the novel sequence. The variant template disrupts telomerase repeat addition processivity and decreased the binding of the telomere-binding protein POT1. Despite these disruptions, the sequence is readily incorporated into cellular chromosomes. Incorporation of a variant sequence prevents POT1-mediated inhibition of telomerase suggesting that incorporation of a variant sequence may influence telomere addition. These findings demonstrate that telomeres can tolerate substantial degeneracy while remaining functional and provide insights as to how incorporation of a non-canonical telomere sequence might alter telomere length dynamics.
Assuntos
Linhagem , Complexo Shelterina , Telomerase , Proteínas de Ligação a Telômeros , Telômero , Humanos , Telômero/metabolismo , Telômero/genética , Proteínas de Ligação a Telômeros/metabolismo , Proteínas de Ligação a Telômeros/genética , Complexo Shelterina/metabolismo , Telomerase/genética , Telomerase/metabolismo , Masculino , Feminino , Homeostase do Telômero/genética , Sequência de Bases , AdultoRESUMO
BACKGROUND: The liver-expressed antimicrobial peptide 2 (LEAP2) plays a pivotal role in the host's immune response against pathogenic microorganisms. Numerous such antimicrobial peptides have recently been shown to mitigate infection risk in fish, and studying those harboured by the economically important fish Acrossocheilus fasciatus is imperative for enhancing its immune responses against pathogenic microorganisms. In this study, we cloned and sequenced LEAP2 cDNA from A. fasciatus to examine its expression in immune tissues and investigate the structure-activity relationships of its intramolecular disulphide bonds. RESULTS: The predicted amino acid sequence of A. fasciatus LEAP2 was found to include a signal peptide, pro-domain, and mature peptide. Sequence analysis indicated that A. fasciatus LEAP2 is a member of the fish LEAP2A cluster and is closely related to Cyprinus carpio LEAP2A. A. fasciatus LEAP2 transcripts were expressed in various tissues, with the head kidney exhibiting the highest mRNA levels. Upon exposure to Aeromonas hydrophila infection, LEAP2 expression was significantly upregulated in the liver, head kidney, and spleen. A mature peptide of A. fasciatus LEAP2, consisting of two disulphide bonds (Af-LEAP2-cys), and a linear form of the LEAP2 mature peptide (Af-LEAP2) were chemically synthesised. The circular dichroism spectroscopy result shows differences between the secondary structures of Af-LEAP2 and Af-LEAP2-cys, with a lower proportion of alpha helix and a higher proportion of random coil in Af-LEAP2. Af-LEAP2 exhibited potent antimicrobial activity against most tested bacteria, including Acinetobacter guillouiae, Pseudomonas aeruginosa, Staphylococcus saprophyticus, and Staphylococcus warneri. In contrast, Af-LEAP2-cys demonstrated weak or no antibacterial activity against the tested bacteria. Af-LEAP2 had a disruptive effect on bacterial cell membrane integrity, whereas Af-LEAP2-cys did not exhibit this effect. Additionally, neither Af-LEAP2 nor Af-LEAP2-cys displayed any observable ability to hydrolyse the genomic DNA of P. aeruginosa. CONCLUSIONS: Our study provides clear evidence that linear LEAP2 exhibits better antibacterial activity than oxidised LEAP2, thereby confirming, for the first time, this phenomenon in fish.
Assuntos
Sequência de Aminoácidos , Animais , Relação Estrutura-Atividade , Doenças dos Peixes/microbiologia , Peptídeos Antimicrobianos/química , Peptídeos Antimicrobianos/farmacologia , Peptídeos Antimicrobianos/genética , Proteínas de Peixes/genética , Proteínas de Peixes/química , Dissulfetos/química , Filogenia , Aeromonas hydrophila/efeitos dos fármacos , Sequência de BasesRESUMO
Ticks, blood-sucking ectoparasites, spread diseases to humans and animals. Haemaphysalis longicornis is a significant vector for tick-borne diseases in medical and veterinary contexts. Identifying protective antigens in H. longicornis for an anti-tick vaccine is a key tick control strategy. Enolase, a multifunctional protein, significantly converts D-2-phosphoglycerate and phosphoenolpyruvate in glycolysis and gluconeogenesis in cell cytoplasm. This study cloned a complete open reading frame (ORF) of enolase from the H. longicornis tick and characterized its transcriptional and silencing effect. We amplified the full-length cDNA of the enolase gene using rapid amplification of cDNA ends. The complete cDNA, with an ORF of 1,297 nucleotides, encoded a 432-amino acid polypeptide. Enolase of the Jeju strain H. longicornis exhibited the highest sequence similarity with H. flava (98%), followed by Dermacentor silvarum (82%). The enolase motifs identified included N-terminal and C-terminal regions, magnesium binding sites, and several phosphorylation sites. Reverse transcription-polymerase chain reaction (RT-PCR) analysis indicated that enolase mRNA transcripts were expressed across all developmental stages of ticks and organs such as salivary gland and midgut. RT-PCR showed higher transcript levels in syn-ganglia, suggesting that synganglion nerves influence enolase,s role in tick salivary glands. We injected enolase double-stranded RNA into adult unfed female ticks, after which they were subsequently fed with normal unfed males until they spontaneously dropped off. RNA interference significantly (P<0.05) reduced feeding and reproduction, along with abnormalities in eggs (no embryos) and hatching. These findings suggest enolase is a promising target for future tick control strategies.
Assuntos
Sequência de Aminoácidos , Clonagem Molecular , Ixodidae , Fosfopiruvato Hidratase , Animais , Fosfopiruvato Hidratase/genética , Fosfopiruvato Hidratase/metabolismo , Ixodidae/genética , Ixodidae/enzimologia , Feminino , Dados de Sequência Molecular , Estágios do Ciclo de Vida/genética , Inativação Gênica , Masculino , Filogenia , Sequência de Bases , DNA Complementar/genética , Haemaphysalis longicornisRESUMO
Nucleosome positioning is a key factor for transcriptional regulation. Nucleosomes regulate the dynamic accessibility of chromatin and interact with the transcription machinery at every stage. Influences to steer nucleosome positioning are diverse, and the according importance of the DNA sequence in contrast to active chromatin remodeling has been the subject of long discussion. In this study, we evaluate the functional role of DNA sequence for all major elements along the process of transcription. We developed a random forest classifier based on local DNA structure that assesses the sequence-intrinsic support for nucleosome positioning. On this basis, we created a simple data resource that we applied genome-wide to the human genome. In our comprehensive analysis, we found a special role of DNA in mediating the competition of nucleosomes with cis-regulatory elements, in enabling steady transcription, for positioning of stable nucleosomes in exons, and for repelling nucleosomes during transcription termination. In contrast, we relate these findings to concurrent processes that generate strongly positioned nucleosomes in vivo that are not mediated by sequence, such as energy-dependent remodeling of chromatin.
Assuntos
Montagem e Desmontagem da Cromatina , DNA , Regulação da Expressão Gênica , Nucleossomos , Transcrição Gênica , Nucleossomos/metabolismo , Nucleossomos/genética , Humanos , Montagem e Desmontagem da Cromatina/genética , DNA/genética , DNA/metabolismo , Cromatina/metabolismo , Cromatina/genética , Genoma Humano , Sequência de BasesRESUMO
HLA-DQA1*02:32 differs from DQA1*02:01:01 by one nucleotide substitution in codon 210 in exon 4.
Assuntos
Alelos , Éxons , Cadeias alfa de HLA-DQ , Sequenciamento de Nucleotídeos em Larga Escala , Teste de Histocompatibilidade , Humanos , Cadeias alfa de HLA-DQ/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Teste de Histocompatibilidade/métodos , Sequência de Bases , Códon , Análise de Sequência de DNA/métodosRESUMO
The novel HLA-C*15:274 allele, first described in a potential bone marrow donor from Brazil.
Assuntos
Alelos , Éxons , Antígenos HLA-C , Teste de Histocompatibilidade , Humanos , Antígenos HLA-C/genética , Teste de Histocompatibilidade/métodos , Análise de Sequência de DNA/métodos , Doadores de Tecidos , Brasil , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Sequência de BasesRESUMO
HLA-DQB1*06:466 differs from HLA-DQB1*06:01:01:01 by a single nucleotide substitution at position 571GâA.
Assuntos
Alelos , Povo Asiático , Doadores de Sangue , Éxons , Sangue Fetal , Cadeias beta de HLA-DQ , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Cadeias beta de HLA-DQ/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Povo Asiático/genética , Teste de Histocompatibilidade/métodos , Polimorfismo de Nucleotídeo Único , Sequência de Bases , Análise de Sequência de DNA/métodos , População do Leste AsiáticoRESUMO
HLA-C*03:620 differs from the HLA-C*03:04:01:02 allele by one nucleotide substitution in the exon 3.
Assuntos
Alelos , Povo Asiático , Sequência de Bases , Éxons , Antígenos HLA-C , Teste de Histocompatibilidade , Humanos , Antígenos HLA-C/genética , Povo Asiático/genética , Análise de Sequência de DNA/métodos , Códon , Alinhamento de Sequência , Polimorfismo de Nucleotídeo Único , População do Leste AsiáticoRESUMO
HLA-DPB1*05:01:20 differs from HLA-DPB1*05:01:01:01 by one nucleotide in exon 3.
Assuntos
Alelos , Povo Asiático , Sequência de Bases , Éxons , Cadeias beta de HLA-DP , Teste de Histocompatibilidade , Análise de Sequência de DNA , Humanos , Cadeias beta de HLA-DP/genética , Povo Asiático/genética , Análise de Sequência de DNA/métodos , Doadores de Tecidos , Alinhamento de Sequência , Códon , População do Leste AsiáticoRESUMO
HLA-B*15:659 differs from HLA-B*15:02:01:01 by one nucleotide in exon 2.
Assuntos
Alelos , Povo Asiático , Sequência de Bases , Éxons , Teste de Histocompatibilidade , Análise de Sequência de DNA , Humanos , Povo Asiático/genética , Análise de Sequência de DNA/métodos , Antígeno HLA-B15/genética , Antígeno HLA-B15/imunologia , Alinhamento de Sequência , Códon , Doadores de Tecidos , População do Leste AsiáticoRESUMO
Genomic full-length sequence of HLA-B*37:46 was identified by a group-specific sequencing approach in a Chinese individual.
Assuntos
Alelos , Povo Asiático , Antígenos HLA-B , Teste de Histocompatibilidade , Análise de Sequência de DNA , Humanos , Antígenos HLA-B/genética , Análise de Sequência de DNA/métodos , Teste de Histocompatibilidade/métodos , Povo Asiático/genética , Éxons , Sequência de BasesRESUMO
OBJECTIVE: The eukaryotic tree of life has been subject of numerous studies ever since the nineteenth century, with more supergroups and their sister relations being decoded in the last years. In this study, we reconstructed the phylogeny of eukaryotes using complete 18S rDNA sequences and their individual secondary structures simultaneously. After the sequence-structure data was encoded, it was automatically aligned and analyzed using sequence-only as well as sequence-structure approaches. We present overall neighbor-joining trees of 211 eukaryotes as well as the respective profile neighbor-joining trees, which helped to resolve the basal branching pattern. A manually chosen subset was further inspected using neighbor-joining, maximum parsimony, and maximum likelihood analyses. Additionally, the 75 and 100 percent consensus structures of the subset were predicted. RESULTS: All sequence-structure approaches show improvements compared to the respective sequence-only approaches: the average bootstrap support per node of the sequence-structure profile neighbor-joining analyses with 90.3, was higher than the average bootstrap support of the sequence-only profile neighbor-joining analysis with 73.9. Also, the subset analyses using sequence-structure data were better supported. Furthermore, more subgroups of the supergroups were recovered as monophyletic and sister group relations were much more comparable to results as obtained by multi-marker analyses.
Assuntos
Eucariotos , Conformação de Ácido Nucleico , Filogenia , RNA Ribossômico 18S , Eucariotos/genética , Eucariotos/classificação , RNA Ribossômico 18S/genética , DNA Ribossômico/genética , Análise de Sequência de DNA/métodos , Sequência de BasesRESUMO
Compared with HLA-DRB1*12:02, the alleles HLA-DRB1*12:92 and HLA-DRB1*12:101 each show one nucleotide substitution respectively.
Assuntos
Alelos , Cadeias HLA-DRB1 , Sequenciamento de Nucleotídeos em Larga Escala , Teste de Histocompatibilidade , Humanos , Cadeias HLA-DRB1/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Teste de Histocompatibilidade/métodos , Éxons , Polimorfismo de Nucleotídeo Único , Sequência de Bases , Análise de Sequência de DNA/métodosRESUMO
Nucleotide substitution in codon 238 of HLA-C*12:02:02:01 results in a novel allele, HLA-C*12:02:53.
Assuntos
Alelos , Sequência de Bases , Códon , Éxons , Antígenos HLA-C , Teste de Histocompatibilidade , Humanos , Antígenos HLA-C/genética , Taiwan , Análise de Sequência de DNA , Povo Asiático/genética , Alinhamento de Sequência , Polimorfismo de Nucleotídeo Único , Substituição de AminoácidosRESUMO
The novel HLA-A*02:1140 allele, first described in a potential bone marrow donor from Brazil.
Assuntos
Alelos , Antígeno HLA-A2 , Humanos , Brasil , Antígeno HLA-A2/genética , Antígeno HLA-A2/imunologia , Teste de Histocompatibilidade , Éxons , Doadores de Tecidos , Sequência de Bases , Análise de Sequência de DNA/métodos , Alinhamento de SequênciaRESUMO
A novel mitovirus was identified in Fusarium oxysporum f. sp. melonis strain T-SD3 and designated as "Fusarium oxysporum mitovirus 3" (FoMV3). The virus was isolated from diseased muskmelon plants with the typical symptom of fusarium wilt. The complete genome of FoMV3 is 2269 nt in length with a predicted AU content of 61.40% and contains a single open reading frame (ORF) using the fungal mitochondrial genetic code. The ORF was predicted to encode a polypeptide of 679 amino acids (aa) containing a conserved RNA-dependent RNA polymerase (RdRp) domain with a molecular mass of 77.39 kDa, which contains six conserved motifs with the highly conserved GDD tripeptide in motif IV. The 5'-untranslated region (UTR) and 3'-UTR of FoMV3 were predicted to fold into stem-loop structures. BLASTp analysis revealed that the RdRp of FoMV3 shared the highest aa sequence identity (83.85%) with that of Fusarium asiaticum mitovirus 5 (FaMV5, a member of the family Mitoviridae) infecting F. asiaticum, the causal agent of wheat fusarium head blight. Phylogenetic analysis further suggested that FoMV3 is a new member of the genus Unuamitovirus within the family Mitoviridae. This is the first report of a new mitovirus associated with F. oxysporum f. sp. melonis.