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1.
Zhonghua Liu Xing Bing Xue Za Zhi ; 41(8): 1341-1344, 2020 Aug 10.
Artículo en Chino | MEDLINE | ID: mdl-32867447

RESUMEN

Objective: To understand the molecular characteristics and correlation among isolated strains of Brucella melitensis (BM) so as to improve the strategies on prevention and control of the disease in Jiangxi province. Methods: A total of 25 strains of BM isolated from human in 17 counties of Jiangxi province were analyzed by multiple locus variable-number tandem repeat analysis (MLVA) method. Results: A total of 25 strains of BM were classified into 24 independent genotypes with similarities between 67.00% and 100.00% and Simpson index between 0.000 and 0.773. There were 3 genotypes in MLVA8, including 60.00% (15/25) as 42 genotype, 32.00% (8/25) as 43 genotype, and 8.00% (2/25) as 63 genotype, respectively. There were 7 genotypes in MLVA11 identified, with 116 genotype and 125 genotype the main genotypes, accounting for 56.00% (14/25) of all the identified strains. Conclusions: Genes from all the 25 strains of BM that isolated from human being were with high genetic diversities, and various, genotypes. However, no obvious epidemiological correlation was noticed among these strains, indicating the complexity of the source of infection on Brucella in Jiangxi province.


Asunto(s)
Brucella melitensis/genética , Brucelosis/microbiología , Brucella melitensis/aislamiento & purificación , Brucelosis/epidemiología , China/epidemiología , Genotipo , Humanos , Repeticiones de Minisatélite/genética , Epidemiología Molecular
2.
PLoS Genet ; 16(8): e1008981, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32745133

RESUMEN

Tribbles homolog 3 (TRIB3) is pseudokinase involved in intracellular regulatory processes and has been implicated in several diseases. In this article, we report that human TRIB3 promoter contains a 33-bp variable number tandem repeat (VNTR) and characterize the heterogeneity and function of this genetic element. Analysis of human populations around the world uncovered the existence of alleles ranging from 1 to 5 copies of the repeat, with 2-, 3- and 5-copy alleles being the most common but displaying considerable geographical differences in frequency. The repeated sequence overlaps a C/EBP-ATF transcriptional regulatory element and is highly conserved, but not repeated, in various mammalian species, including great apes. The repeat is however evident in Neanderthal and Denisovan genomes. Reporter plasmid experiments in human cell culture reveal that an increased copy number of the TRIB3 promoter 33-bp repeat results in increased transcriptional activity. In line with this, analysis of whole genome sequencing and RNA-Seq data from human cohorts demonstrates that the copy number of TRIB3 promoter 33-bp repeats is positively correlated with TRIB3 mRNA expression level in many tissues throughout the body. Moreover, the copy number of the TRIB3 33-bp repeat appears to be linked to known TRIB3 eQTL SNPs as well as TRIB3 SNPs reported in genetic association studies. Taken together, the results indicate that the promoter 33-bp VNTR constitutes a causal variant for TRIB3 expression variation between individuals and could underlie the results of SNP-based genetic studies.


Asunto(s)
Proteínas de Ciclo Celular/genética , Heterogeneidad Genética , Genética de Población , Repeticiones de Minisatélite/genética , Proteínas Serina-Treonina Quinasas/antagonistas & inhibidores , Proteínas Represoras/genética , Estonia/epidemiología , Femenino , Regulación de la Expresión Génica/genética , Genotipo , Humanos , Masculino , Regiones Promotoras Genéticas , Proteínas Serina-Treonina Quinasas/genética , RNA-Seq , Secuenciación Completa del Genoma
3.
Nature ; 582(7812): 426-431, 2020 06.
Artículo en Inglés | MEDLINE | ID: mdl-32461690

RESUMEN

Sex chromosomes in males of most eutherian mammals share only a small homologous segment, the pseudoautosomal region (PAR), in which the formation of double-strand breaks (DSBs), pairing and crossing over must occur for correct meiotic segregation1,2. How cells ensure that recombination occurs in the PAR is unknown. Here we present a dynamic ultrastructure of the PAR and identify controlling cis- and trans-acting factors that make the PAR the hottest segment for DSB formation in the male mouse genome. Before break formation, multiple DSB-promoting factors hyperaccumulate in the PAR, its chromosome axes elongate and the sister chromatids separate. These processes are linked to heterochromatic mo-2 minisatellite arrays, and require MEI4 and ANKRD31 proteins but not the axis components REC8 or HORMAD1. We propose that the repetitive DNA sequence of the PAR confers unique chromatin and higher-order structures that are crucial for recombination. Chromosome synapsis triggers collapse of the elongated PAR structure and, notably, oocytes can be reprogrammed to exhibit spermatocyte-like levels of DSBs in the PAR simply by delaying or preventing synapsis. Thus, the sexually dimorphic behaviour of the PAR is in part a result of kinetic differences between the sexes in a race between the maturation of the PAR structure, formation of DSBs and completion of pairing and synapsis. Our findings establish a mechanistic paradigm for the recombination of sex chromosomes during meiosis.


Asunto(s)
Roturas del ADN de Doble Cadena , Meiosis , Regiones Pseudoautosómicas/genética , Regiones Pseudoautosómicas/metabolismo , Animales , Proteínas de Ciclo Celular/metabolismo , Ensamble y Desensamble de Cromatina , Emparejamiento Cromosómico/genética , Proteínas de Unión al ADN , Femenino , Heterocromatina/genética , Heterocromatina/metabolismo , Heterocromatina/ultraestructura , Cinética , Masculino , Meiosis/genética , Ratones , Repeticiones de Minisatélite/genética , Oocitos/metabolismo , Recombinación Genética/genética , Caracteres Sexuales , Intercambio de Cromátides Hermanas , Espermatocitos/metabolismo , Ubiquitina-Proteína Ligasas/metabolismo
4.
Epidemiol Mikrobiol Imunol ; 69(1): 20-28, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-32326712

RESUMEN

AIM: To determine clonal characteristics of Streptococcus pneumoniae (S. pneumoniae) strains causing invasive pneumococcal disease (IPD) in the Czech Republic (CR) in 2017. Clonal assignment of strains was performed in the National Reference Laboratory for Streptococcal Infections (NRL) by the routinely used method, multilocus sequence typing (MLST), and a newly introduced method, multiple-locus variable number tandem repeat analysis (MLVA). MATERIAL AND METHOD: The study strains were 87 isolates of S. pneumoniae selected from those referred to the NRL within the IPD surveillance programme from all over the CR in 2017. The study set covers S. pneumoniae isolates of both pneumococcal 13-valent conjugate vaccine serotypes (1, 4, and 9V) and non-vaccine serotypes (8, 9N, and 22F) widely spread in the CR. The study methods were MLST, the standard method used worldwide for the characterisation of pneumococcal isolates based on sequencing of a set of gene regions, and MLVA, which allows to characterise isolates based on the number of tandem repeats in intergenic regions. RESULTS: MLST revealed and confirmed a high level of clonal homogeneity of S. pneumoniae isolates of serotypes 1, 9N, 9V, and 22F and a considerable genetic variability of serotype 4 and 8 isolates. There was a general correlation between the MLST and MLVA clonal complex assignments. In comparison with MLST, MLVA has superior clonal discriminatory power. Isolates with the newly determined MLVA profiles should be assigned to new MLVA types (MT). Nevertheless, the new web support of the MLVA scheme for S. pneumoniae is less relevant as it does not provide services comparable to those available from the web support for MLST characterisation. CONCLUSIONS: MLST continues to be the standard method for clonal characterisation of S. pneumoniae isolates from IPD for the purposes of both national and international surveillance. MLST characteristics of isolates are helpful in the study of clonal variability conducted by both national and transnational public health protection authorities. MLVA is not routinely used but can serve as a complementary method for rapid identification of clonal relatedness between isolates, e.g. those from local outbreaks. It is more suitable for the detection of emergence and spread of a virulent clonal variant.


Asunto(s)
Repeticiones de Minisatélite , Tipificación de Secuencias Multilocus , Infecciones Neumocócicas , Streptococcus pneumoniae , República Checa , Humanos , Repeticiones de Minisatélite/genética , Infecciones Neumocócicas/microbiología , Streptococcus pneumoniae/clasificación , Streptococcus pneumoniae/genética
5.
Biochemistry ; 59(12): 1261-1272, 2020 03 31.
Artículo en Inglés | MEDLINE | ID: mdl-32191439

RESUMEN

We investigate herein the interaction between nucleolin (NCL) and a set of G4 sequences derived from the CEB25 human minisatellite that adopt a parallel topology while differing in the length of the central loop (from nine nucleotides to one nucleotide). It is revealed that NCL strongly binds to long-loop (five to nine nucleotides) G4 while interacting weakly with the shorter variants (loop with fewer than three nucleotides). Photo-cross-linking experiments using 5-bromo-2'-deoxyuridine (BrU)-modified sequences further confirmed the loop-length dependency, thereby indicating that the WT-CEB25-L191 (nine-nucleotide loop) is the best G4 substrate. Quantitative proteomic analysis (LC-MS/MS) of the product(s) obtained by photo-cross-linking NCL to this sequence enabled the identification of one contact site corresponding to a 15-amino acid fragment located in helix α2 of RNA binding domain 2 (RBD2), which sheds light on the role of this structural element in G4-loop recognition. Then, the ability of a panel of benchmark G4 ligands to prevent the NCL-G4 interaction was explored. It was found that only the most potent ligand PhenDC3 can inhibit NCL binding, thereby suggesting that the terminal guanine quartet is also a strong determinant of G4 recognition, putatively through interaction with the RGG domain. This study describes the molecular mechanism by which NCL recognizes G4-containing long loops and leads to the proposal of a model implying a concerted action of RBD2 and RGG domains to achieve specific G4 recognition via a dual loop-quartet interaction.


Asunto(s)
G-Cuádruplex , Repeticiones de Minisatélite/genética , Fosfoproteínas/metabolismo , Proteínas de Unión al ARN/metabolismo , Sitios de Unión , Bromodesoxiuridina/química , Cromatografía Líquida de Alta Presión , Reactivos de Enlaces Cruzados/química , Modelos Moleculares , Conformación de Ácido Nucleico/efectos de los fármacos , Fosfoproteínas/química , Conformación Proteica en Hélice alfa , Dominios y Motivos de Interacción de Proteínas , Proteómica , Motivo de Reconocimiento de ARN , Proteínas de Unión al ARN/química , Espectrometría de Masas en Tándem
6.
Transbound Emerg Dis ; 67 Suppl 1: 99-107, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32174038

RESUMEN

Theileria parva is a tick-transmitted apicomplexan protozoan parasite that infects lymphocytes of cattle and African Cape buffalo (Syncerus caffer), causing a frequently fatal disease of cattle in eastern, central and southern Africa. A live vaccination procedure, known as infection and treatment method (ITM), the most frequently used version of which comprises the Muguga, Serengeti-transformed and Kiambu 5 stocks of T. parva, delivered as a trivalent cocktail, is generally effective. However, it does not always induce 100% protection against heterologous parasite challenge. Knowledge of the genetic diversity of T. parva in target cattle populations is therefore important prior to extensive vaccine deployment. This study investigated the extent of genetic diversity within T. parva field isolates derived from Ankole (Bos taurus) cattle in south-western Uganda using 14 variable number tandem repeat (VNTR) satellite loci and the sequences of two antigen-encoding genes that are targets of CD8+T-cell responses induced by ITM, designated Tp1 and Tp2. The findings revealed a T. parva prevalence of 51% confirming endemicity of the parasite in south-western Uganda. Cattle-derived T. parva VNTR genotypes revealed a high degree of polymorphism. However, all of the T. parva Tp1 and Tp2 alleles identified in this study have been reported previously, indicating that they are widespread geographically in East Africa and highly conserved.


Asunto(s)
Antígenos de Protozoos/genética , Búfalos/parasitología , Enfermedades de los Bovinos/parasitología , Repeticiones de Minisatélite/genética , Vacunas Antiprotozoos/inmunología , Theileria parva/genética , Theileriosis/parasitología , Alelos , Animales , Linfocitos T CD8-positivos/inmunología , Linfocitos T CD8-positivos/parasitología , Bovinos , Enfermedades de los Bovinos/epidemiología , Enfermedades de los Bovinos/prevención & control , Femenino , Variación Genética , Genotipo , Masculino , Polimorfismo Genético/genética , Theileria parva/inmunología , Theileriosis/epidemiología , Theileriosis/prevención & control , Garrapatas/parasitología , Uganda/epidemiología , Vacunas Atenuadas/inmunología
7.
Transbound Emerg Dis ; 67 Suppl 1: 56-67, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-32174044

RESUMEN

The infection and treatment (ITM) live vaccination method for control of Theileria parva infection in cattle is increasingly being adopted, particularly in Maasai pastoralist systems. Several studies indicate positive impacts on human livelihoods. Importantly, the first detailed protocol for live vaccine production at scale has recently been published. However, quality control and delivery issues constrain vaccination sustainability and deployment. There is evidence that the distribution of T. parva is spreading from endemic areas in East Africa, North into Southern Sudan and West into Cameroon, probably as a result of anthropogenic movement of cattle. It has also recently been demonstrated that in Kenya, T. parva derived from cape buffalo can 'breakthrough' the immunity induced by ITM. However, in Tanzania, breakthrough has not been reported in areas where cattle co-graze with buffalo. It has been confirmed that buffalo in northern Uganda national parks are not infected with T. parva and R. appendiculatus appears to be absent, raising issues regarding vector distribution. Recently, there have been multiple field population genetic studies using variable number tandem repeat (VNTR) sequences and sequencing of antigen genes encoding targets of CD8+ T-cell responses. The VNTR markers generally reveal high levels of diversity. The antigen gene sequences present within the trivalent Muguga cocktail are relatively conserved among cattle transmissible T. parva populations. By contrast, greater genetic diversity is present in antigen genes from T. parva of buffalo origin. There is also evidence from several studies for transmission of components of stocks present within the Muguga cocktail, into field ticks and cattle following induction of a carrier state by immunization. In the short term, this may increase live vaccine effectiveness, through a more homogeneous challenge, but the long-term consequences are unknown.


Asunto(s)
Antígenos de Protozoos/inmunología , Búfalos/parasitología , Enfermedades de los Bovinos/prevención & control , Vacunas Antiprotozoos/inmunología , Theileria parva/inmunología , Theileriosis/prevención & control , Vacunación/veterinaria , África/epidemiología , Animales , Linfocitos T CD8-positivos/inmunología , Linfocitos T CD8-positivos/parasitología , Portador Sano , Bovinos , Enfermedades de los Bovinos/epidemiología , Enfermedades de los Bovinos/parasitología , Enfermedades de los Bovinos/terapia , Reservorios de Enfermedades/parasitología , Variación Genética , Genética de Población , Repeticiones de Minisatélite/genética , Epidemiología Molecular , Theileria parva/genética , Theileriosis/epidemiología , Theileriosis/parasitología , Theileriosis/terapia , Garrapatas/parasitología , Vacunas Atenuadas/inmunología
8.
PLoS One ; 15(1): e0227875, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-31931511

RESUMEN

In Italy anthrax is an endemic disease, with a few outbreaks occurring almost every year. We surveyed 234 B. anthracis strains from animals (n = 196), humans (n = 3) and the environment (n = 35) isolated during Italian outbreaks in the years 1972-2018. Despite the considerable genetic homogeneity of B. anthracis, the strains were effectively differentiated using canonical single nucleotide polymorphisms (CanSNPs) assay and multiple-locus variable-number tandem repeat analysis (MLVA). The phylogenetic identity was determined through the characterization of 14 CanSNPs. In addition, a subsequent 31-loci MLVA assay was also used to further discriminate B. anthracis genotypes into subgroups. The analysis of 14 CanSNPs allowed for the identification of four main lineages: A.Br.011/009, A.Br.008/011 (respectively belonging to A.Br.008/009 sublineage, also known Trans-Eurasian or TEA group), A.Br.005/006 and B.Br.CNEVA. A.Br.011/009, the most common subgroup of lineage A, is the major genotype of B. anthracis in Italy. The MLVA analysis revealed the presence of 55 different genotypes in Italy. Most of the genotypes are genetically very similar, supporting the hypothesis that all strains evolved from a local common ancestral strain, except for two genotypes representing the branch A.Br.005/006 and B.Br.CNEVA. The genotyping analysis applied in this study remains a very valuable tool for studying the diversity, evolution, and molecular epidemiology of B. anthracis.


Asunto(s)
Carbunco/genética , Bacillus anthracis/genética , Epidemiología Molecular , Filogenia , Animales , Carbunco/epidemiología , Carbunco/microbiología , Bacillus anthracis/clasificación , Bacillus anthracis/patogenicidad , Genoma Bacteriano/genética , Genotipo , Humanos , Italia/epidemiología , Repeticiones de Minisatélite/genética , Polimorfismo de Nucleótido Simple/genética
9.
Gene ; 733: 144267, 2020 Apr 05.
Artículo en Inglés | MEDLINE | ID: mdl-31809838

RESUMEN

Genetic variations in the dopamine D4 receptor (DRD4) gene and the serotonin transporter (SLC6A4) gene are involved in the aetiology of substance abuse disorder (SUD). The main aim of this study is to evaluate the genetic association of DRD4 (48 bp-VNTR) and SLC6A4 (rs25531 and 5-HTTLPR VNTR) gene polymorphisms with SUD susceptibility among the Jordanian Arab population. This study included 500 SUD patients and 500 healthy matched controls. The VNTR Genetic polymorphisms of DRD4 and SLC6A4 genes were genotyped using conventional polymerase chain reaction (PCR). While, the rs25531 SNP was genotyped using PCR-restriction fragment length polymorphism (PCR-RFLP) technique. The genetic association was analysed using different statistical analyses including chi-square, Fisher exact test and one way ANOVA test. The DRD4 exon III VNTR polymorphism was associated with SUD significantly in case of alleles 4, 7 and genotype 7/7 (P = 0.004, 0.0005 and 0.01, respectively). While, there was no genetic association between the 5-HTTLPR (LL, LS, SS), rs25331 (AA, AG, GG) and tri-allelic (SASA, LASG, LASA, LALG, LALA) genotypes (P = 0.26, 0.71 and 0.52, respectively) and SUD. Moreover, using multinomial regression analysis, the homozygous 7/7 and 2/2 VNTR genotypes of DRD4 gene were nominally significantly associated with a lower risk of addiction (OR = 0.285 with P = 0.003 and OR = 0.447 with P = 0.031, respectively) after adjusting for other covariates. Our findings showed that 4 and 7 repeats and the genotype 7/7 of DRD4 exon III VNTRs polymorphism are involved in the aetiology of SUD among Jordanian population in compared to the 5-HTTLPR polymorphisms.


Asunto(s)
Receptores de Dopamina D4/genética , Proteínas de Transporte de Serotonina en la Membrana Plasmática/genética , Trastornos Relacionados con Sustancias/genética , Adulto , Alelos , Árabes/genética , Estudios de Casos y Controles , Exones/genética , Frecuencia de los Genes/genética , Genotipo , Homocigoto , Humanos , Jordania/epidemiología , Masculino , Repeticiones de Minisatélite/genética , Polimorfismo Genético/genética , Regiones Promotoras Genéticas/genética , Receptores de Dopamina D4/metabolismo , Proteínas de Transporte de Serotonina en la Membrana Plasmática/metabolismo
10.
Int J Mol Sci ; 20(23)2019 Nov 27.
Artículo en Inglés | MEDLINE | ID: mdl-31783611

RESUMEN

Retrotransposons can alter the regulation of genes both transcriptionally and post-transcriptionally, through mechanisms such as binding transcription factors and alternative splicing of transcripts. SINE-VNTR-Alu (SVA) retrotransposons are the most recently evolved class of retrotransposable elements, found solely in primates, including humans. SVAs are preferentially found at genic, high GC loci, and have been termed "mobile CpG islands". We hypothesise that the ability of SVAs to mobilise, and their non-random distribution across the genome, may result in differential regulation of certain pathways. We analysed SVA distribution patterns across the human reference genome and identified over-representation of SVAs at zinc finger gene clusters. Zinc finger proteins are able to bind to and repress SVA function through transcriptional and epigenetic mechanisms, and the interplay between SVAs and zinc fingers has been proposed as a major feature of genome evolution. We describe observations relating to the clustering patterns of both reference SVAs and polymorphic SVA insertions at zinc finger gene loci, suggesting that the evolution of this network may be ongoing in humans. Further, we propose a mechanism to direct future research and validation efforts, in which the interplay between zinc fingers and their epigenetic modulation of SVAs may regulate a network of zinc finger genes, with the potential for wider transcriptional consequences.


Asunto(s)
Elementos Alu/genética , Genoma Humano/genética , Repeticiones de Minisatélite/genética , Retroelementos/genética , Epigénesis Genética/genética , Evolución Molecular , Humanos , Transcripción Genética/genética , Dedos de Zinc/genética
11.
PLoS One ; 14(12): e0225848, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-31825986

RESUMEN

BACKGROUND: Multiple-Locus Variable Number of Tandem Repeats (VNTR) Analysis (MLVA) is widely used by laboratory-based surveillance networks for subtyping pathogens causing foodborne and water-borne disease outbreaks. However, Whole Genome Sequencing (WGS) has recently emerged as the new more powerful reference for pathogen subtyping, making a data conversion method necessary which enables the users to compare the MLVA identified by either method. The MLVAType shiny application was designed to extract MLVA profiles of Vibrio cholerae isolates from WGS data while ensuring backward compatibility with traditional MLVA typing methods. METHODS: To test and validate the MLVAType algorithm, WGS-derived MLVA profiles of nineteen Vibrio cholerae isolates from Democratic Republic of the Congo (n = 9) and Uganda (n = 10) were compared to MLVA profiles generated by an in silico PCR approach and Sanger sequencing, the latter being used as the reference method. RESULTS: Results obtained by Sanger sequencing and MLVAType were totally concordant. However, the latter were affected by censored estimations whose percentage was inversely proportional to the k-mer parameter used during genome assembly. With a k-mer of 127, less than 15% estimation of V. cholerae VNTR was censored. Preventing censored estimation was only achievable when using a longer k-mer size (i.e. 175), which is not proposed in the SPAdes v.3.13.0 software. CONCLUSION: As NGS read lengths and qualities tend to increase with time, one may expect the increase of k-mer size in a near future. Using MLVAType application with a longer k-mer size will then efficiently retrieve MLVA profiles from WGS data while avoiding censored estimation.


Asunto(s)
Repeticiones de Minisatélite/genética , Vibrio cholerae O1/genética , Secuenciación Completa del Genoma , Algoritmos , Sitios Genéticos , Genoma Bacteriano , Uganda
12.
BMC Bioinformatics ; 20(Suppl 9): 495, 2019 Nov 22.
Artículo en Inglés | MEDLINE | ID: mdl-31757210

RESUMEN

BACKGROUND: Transposable elements (TEs) are DNA sequences able to mobilize themselves and to increase their copy-number in the host genome. In the past, they have been considered mainly selfish DNA without evident functions. Nevertheless, currently they are believed to have been extensively involved in the evolution of primate genomes, especially from a regulatory perspective. Due to their recent activity they are also one of the primary sources of structural variants (SVs) in the human genome. By taking advantage of sequencing technologies and bioinformatics tools, recent surveys uncovered specific TE structural variants (TEVs) that gave rise to polymorphisms in human populations. When combined with RNA-seq data this information provides the opportunity to study the potential impact of TEs on gene expression in human. RESULTS: In this work, we assessed the effects of the presence of specific TEs in cis on the expression of flanking genes by producing associations between polymorphic TEs and flanking gene expression levels in human lymphoblastoid cell lines. By using public data from the 1000 Genome Project and the Geuvadis consortium, we exploited an expression quantitative trait loci (eQTL) approach integrated with additional bioinformatics data mining analyses. We uncovered human loci enriched for common, less common and rare TEVs and identified 323 significant TEV-cis-eQTL associations. SINE-R/VNTR/Alus (SVAs) resulted the TE class with the strongest effects on gene expression. We also unveiled differential functional enrichments on genes associated to TEVs, genes associated to TEV-cis-eQTLs and genes associated to the genomic regions mostly enriched in TEV-cis-eQTLs highlighting, at multiple levels, the impact of TEVs on the host genome. Finally, we also identified polymorphic TEs putatively embedded in transcriptional units, proposing a novel mechanism in which TEVs may mediate individual-specific traits. CONCLUSION: We contributed to unveiling the effect of polymorphic TEs on transcription in lymphoblastoid cell lines.


Asunto(s)
Elementos Transponibles de ADN/genética , Bases de Datos Genéticas , Linfocitos/metabolismo , Polimorfismo Genético , Sitios de Carácter Cuantitativo/genética , Transcripción Genética , Elementos Alu/genética , Animales , Conducta , Línea Celular , Genoma Humano , Humanos , Inmunidad/genética , Repeticiones de Minisatélite/genética
13.
Bull Exp Biol Med ; 168(1): 84-86, 2019 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-31768776

RESUMEN

The role of the VNTR polymorphism of the AS3MT gene in determining the clinical features of schizophrenia and schizophrenic spectrum disorders was studied. The analysis included 670 individuals. We found no differences in PANSS scores for positive, negative, and common psychopathological symptoms between the carriers of different genotypes. The interaction of the studied polymorphism and obstetrical complications as an environmental factor was found. The genotype-environment interactions were identified for one of the characteristics reflecting the severity of schizophrenia: the level of negative symptoms. Women with the V2/V2 genotype, who have obstetrical complications, showed significantly higher negative symptoms scores, which was associated with a poor prognosis of the disease.


Asunto(s)
Metiltransferasas/genética , Repeticiones de Minisatélite/genética , Polimorfismo Genético/genética , Esquizofrenia/genética , Esquizofrenia/patología , Adulto , Femenino , Genotipo , Humanos , Masculino , Embarazo , Complicaciones del Embarazo/genética
14.
Turk J Med Sci ; 49(5): 1411-1417, 2019 Oct 24.
Artículo en Inglés | MEDLINE | ID: mdl-31650822

RESUMEN

Background/aim: Sinonasal polyposis is a complex chronic disease displaying contributions from multiple genetic and environmental factors. In this study, we analyzed possible genetic factors that increase susceptibility to this widespread inflammatory disease. Materials and methods: A total of 176 adult patients, including 78 patients with sinonasal polyposis and 98 healthy controls, were analyzed for IL-1RN VNTR, IL-2(-330), and IL-4 VNTR gene polymorphisms using polymerase chain reaction and enzyme restriction. Results: IL-1RN and IL-4 VNTR polymorphisms were notably associated with sinonasal polyposis (P = 0.0001 and P = 0.036, respectively); however, regarding the IL-2(-330) gene polymorphism, no significant difference was shown between the patient and control groups (P = 0.235). Conclusions: Our study indicates that the RN2 allele of IL-1RN and the RP1 allele of IL-4 might be risk factors for developing sinonasal polyposis.


Asunto(s)
Proteína Antagonista del Receptor de Interleucina 1/genética , Interleucina-2/genética , Interleucina-4/genética , Repeticiones de Minisatélite/genética , Pólipos Nasales/genética , Enfermedades de los Senos Paranasales/genética , Polimorfismo de Nucleótido Simple/genética , Rinitis/genética , Sinusitis/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Alelos , Estudios de Casos y Controles , Enfermedad Crónica , Femenino , Predisposición Genética a la Enfermedad/genética , Humanos , Masculino , Persona de Mediana Edad , Adulto Joven
15.
BMC Infect Dis ; 19(1): 908, 2019 Oct 29.
Artículo en Inglés | MEDLINE | ID: mdl-31664926

RESUMEN

BACKGROUND: Drug-resistant tuberculosis (TB) is a major public health concern threathing the success of TB control efforts, and this is particularily problematic in Central Asia. Here, we present the first analysis of the population structure of Mycobacterium tuberculosis complex isolates in the Central Asian republics Uzbekistan, Tajikistan, and Kyrgyzstan. METHODS: The study set consisted of 607 isolates with 235 from Uzbekistan, 206 from Tajikistan, and 166 from Kyrgyzstan. 24-loci MIRU-VNTR (Mycobacterial Interspersed Repetitive Units - Variable Number of Tandem Repeats) typing and spoligotyping were combined for genotyping. In addition, phenotypic drug suceptibility was performed. RESULTS: The population structure mainly comprises strains of the Beijing lineage (411/607). 349 of the 411 Beijing isolates formed clusters, compared to only 33 of the 196 isolates from other clades. Beijing 94-32 (n = 145) and 100-32 (n = 70) formed the largest clusters. Beijing isolates were more frequently multidrug-resistant, pre-extensively resistant (pre-XDR)- or XDR-TB than other genotypes. CONCLUSIONS: Beijing clusters 94-32 and 100-32 are the dominant MTB genotypes in Central Asia. The relative size of 100-32 compared to previous studies in Kazakhstan and its unequal geographic distribution support the hypothesis of its more recent emergence in Central Asia. The data also demonstrate that clonal spread of resistant TB strains, particularly of the Beijing lineage, is a root of the so far uncontroled MDR-TB epidemic in Central Asia.


Asunto(s)
Epidemias , Genotipo , Mycobacterium tuberculosis/genética , Tuberculosis Resistente a Múltiples Medicamentos/epidemiología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Estudios Transversales , Femenino , Humanos , Kirguistán/epidemiología , Masculino , Persona de Mediana Edad , Repeticiones de Minisatélite/genética , Epidemiología Molecular , Tipificación Molecular , Mycobacterium tuberculosis/aislamiento & purificación , Fenotipo , Tayikistán/epidemiología , Tuberculosis Resistente a Múltiples Medicamentos/microbiología , Tuberculosis Resistente a Múltiples Medicamentos/prevención & control , Uzbekistán/epidemiología , Adulto Joven
16.
Comp Immunol Microbiol Infect Dis ; 67: 101353, 2019 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-31605891

RESUMEN

Coxiella burnetii, the etiological agent of Q fever, is a globally distributed zoonotic disease. The disease was reported serologically in different animal species and humans in Egypt but the genetic information about circulating Coxiella strains is limited. The present study aimed to genetically characterize Coxiella positive samples, identified in abortive sheep, based on a 17-loci Multiple Locus Variable number tandem repeat analysis (MLVA) panel and Multispacer Sequence Typing (MST). Four MLVA types were found among six examined samples. While all three samples examined by MST were identified as novel sequence type (ST) closely related to human heart valve isolates from France, Saudi Arabia, USA and United Kingdom. This study provides the first genetic information about circulating Coxiella strains in Egypt and improves epidemiological data of Q fever in the country.


Asunto(s)
Aborto Veterinario/microbiología , Coxiella burnetii/genética , Repeticiones de Minisatélite/genética , Fiebre Q/epidemiología , Fiebre Q/veterinaria , Animales , Coxiella burnetii/clasificación , Coxiella burnetii/aislamiento & purificación , ADN Bacteriano/genética , Egipto/epidemiología , Femenino , Genotipo , Tipificación Molecular , Embarazo , Ovinos , Enfermedades de las Ovejas/microbiología
17.
Hum Brain Mapp ; 40(18): 5202-5212, 2019 12 15.
Artículo en Inglés | MEDLINE | ID: mdl-31441562

RESUMEN

Previous studies have linked the low expression variant of a variable number of tandem repeat polymorphism in the monoamine oxidase A gene (MAOA-L) to the risk for impulsivity and aggression, brain developmental abnormalities, altered cortico-limbic circuit function, and an exaggerated neural serotonergic tone. However, the neurobiological effects of this variant on human brain network architecture are incompletely understood. We studied healthy individuals and used multimodal neuroimaging (sample size range: 219-284 across modalities) and network-based statistics (NBS) to probe the specificity of MAOA-L-related connectomic alterations to cortical-limbic circuits and the emotion processing domain. We assessed the spatial distribution of affected links across several neuroimaging tasks and data modalities to identify potential alterations in network architecture. Our results revealed a distributed network of node links with a significantly increased connectivity in MAOA-L carriers compared to the carriers of the high expression (H) variant. The hyperconnectivity phenotype primarily consisted of between-lobe ("anisocoupled") network links and showed a pronounced involvement of frontal-temporal connections. Hyperconnectivity was observed across functional magnetic resonance imaging (fMRI) of implicit emotion processing (pFWE = .037), resting-state fMRI (pFWE = .022), and diffusion tensor imaging (pFWE = .044) data, while no effects were seen in fMRI data of another cognitive domain, that is, spatial working memory (pFWE = .540). These observations are in line with prior research on the MAOA-L variant and complement these existing data by novel insights into the specificity and spatial distribution of the neurogenetic effects. Our work highlights the value of multimodal network connectomic approaches for imaging genetics.


Asunto(s)
Encéfalo/diagnóstico por imagen , Genotipo , Imagen por Resonancia Magnética/métodos , Repeticiones de Minisatélite/genética , Monoaminooxidasa/genética , Red Nerviosa/diagnóstico por imagen , Adulto , Encéfalo/fisiología , Femenino , Lóbulo Frontal/diagnóstico por imagen , Lóbulo Frontal/fisiología , Humanos , Masculino , Red Nerviosa/fisiología , Lóbulo Temporal/diagnóstico por imagen , Lóbulo Temporal/fisiología , Adulto Joven
18.
Epidemiol Infect ; 147: e222, 2019 01.
Artículo en Inglés | MEDLINE | ID: mdl-31364585

RESUMEN

In November 2016, a woman in her 30s who stayed at an insecure, temporary housing facility, a manga café in Tokyo, Japan, for a year was diagnosed with sputum smear-positive tuberculosis (TB). Since the café had 31 staff members and provided with accommodation to many people, the local health office initiated a contact investigation. This study aims to characterise the cases found in the outbreak. A TB case was defined as a person tested bacteriologically positive for TB, or was determined to have TB by a physician. A latent TB infection case was defined as a person tested positive by interferon-γ release assay. From January 2016 through November 2017, there were 31 staff members at the manga café, of which, six developed TB disease (one smear-negative, culture-positive and five smear- and culture-negative) in addition to seven LTBI. Another long-term customer was found having sputum smear-positive TB. Variable numbers tandem repeat (VNTR) test revealed that the index patient and the long-term customer had the identical type of VNTR; however, one staff member had a different VNTR. Local health authorities should intensify screening long-term customers of such facilities for TB regularly as well as once a TB outbreak occurs.


Asunto(s)
Trazado de Contacto/estadística & datos numéricos , Brotes de Enfermedades/estadística & datos numéricos , Mycobacterium tuberculosis/aislamiento & purificación , Vivienda Popular/tendencias , Tuberculosis/epidemiología , Adulto , Estudios de Cohortes , Control de Enfermedades Transmisibles/métodos , Trazado de Contacto/métodos , Femenino , Humanos , Japón/epidemiología , Masculino , Persona de Mediana Edad , Repeticiones de Minisatélite/genética , Pobreza , Prevalencia , Estudios Retrospectivos , Medición de Riesgo , Clase Social , Esputo/microbiología , Tokio , Tuberculosis/diagnóstico , Población Urbana , Adulto Joven
20.
Am J Trop Med Hyg ; 101(4): 774-779, 2019 10.
Artículo en Inglés | MEDLINE | ID: mdl-31392954

RESUMEN

National border areas are special places for the spread of Mycobacterium tuberculosis (MTB). These regions concentrate vulnerable populations and constant population movements. Understanding the dynamics of the transmission of MTB is fundamental to propose control measures and to monitor drug resistance. We conducted a population-based prospective study of tuberculosis (TB) to evaluate molecular characteristics of MTB isolates circulating in Roraima, a state on the border of Venezuela and Guyana. Eighty isolates were genotyped by IS6110-RFLP (restriction fragment length polymorphism), spoligotyping, and 24-locus mycobacterial interspersed repetitive unit-variable number of repeats tandem (MIRU-VNTR). Drug susceptibility tests were performed by using the proportion method and GeneXpert® MTB/RIF (Cepheid, Sunnyvale, CA). Isolates showing a phenotypic resistance profile were submitted to polymerase chain reaction (PCR) and sequencing. Spoligotyping showed 40 distinct patterns with a high prevalence of Latin-American and Mediterranean (LAM), Haarlem (H), and the "ill-defined" T clades. Mycobacterial interspersed repetitive unit -VNTR and IS6110-RFLP showed clustering rates of 21.3% and 30%, respectively. Drug resistance was detected in 11 (15.1%) isolates, and all were found to have primary resistance; among these, six (8.2%) isolates were streptomycin mono-resistant, four (5.4%) isoniazid mono-resistant, and one (1.3%) multidrug resistant. This is the first study on the molecular epidemiology and drug resistance profile of MTB from Roraima. Herein, we describe high diversity of genetic profiles circulating in this region that may be driven by the introduction of new strain types because of large population flow in this region. In summary, our results showed that analyses of these circulating strains can contribute to a better understanding of TB epidemiology in the northern Brazilian border and be useful to establish public health policies on TB prevention.


Asunto(s)
Variación Genética , Mycobacterium tuberculosis/genética , Tuberculosis/epidemiología , Adolescente , Adulto , Brasil/epidemiología , Análisis por Conglomerados , Farmacorresistencia Bacteriana , Femenino , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Repeticiones de Minisatélite/genética , Epidemiología Molecular , Mycobacterium tuberculosis/aislamiento & purificación , Polimorfismo de Longitud del Fragmento de Restricción , Estudios Prospectivos , Tuberculosis/microbiología , Adulto Joven
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