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Genetics and Molecular Biology

Xinju Zhang, Lei Jin, Zhiyuan Wu, Weizhe Ma, Yuming Chen, Gang Chen, Lixin Wang, Ming Guan
The goal of this research was to investigate the linkage disequilibrium between rs9263726 and HLA-B*58:01 in different Chinese ethnic groups (Han, Tibet, and Hui) and to study the feasibility of rs9263726 replacing HLA-B*58:01 as an efficient indicator of potential allopurinol hypersensitivity syndrome. In this study, rs9263726 and HLA-B*58:01 were detected in all samples. For samples of individuals whose rs9263726 genotypes were not consistent with HLA-B*58:01, we did high-resolution typing of HLA-B gene to further confirm the correlation of rs9263726 genotype and special HLA-B alleles...
August 2, 2018: Genetics and Molecular Biology
Shiwei Liu, Zongyou Lv, Yihui Liu, Ling Li, Lida Zhang
Drought is one of the most severe abiotic factors restricting plant growth and yield. Numerous genes functioning in drought response are regulated by abscisic acid (ABA) dependent and independent pathways, but knowledge of interplay between the two pathways is still limited. Here, we integrated transcriptome sequencing and network analyses to explore interplays between ABA-dependent and ABA-independent pathways responding to drought stress in Arabidopsis thaliana. We identified 211 ABA-dependent differentially expressed genes (DEGs) and 1,118 ABA-independent DEGs under drought stress...
July 23, 2018: Genetics and Molecular Biology
Vanessa Feistauer, Márcia R Vitolo, Paula D B Campagnolo, Vanessa S Mattevi, Silvana Almeida
The reward sensation after food intake may be different between individuals and variants in genes related to the dopaminergic system may indicate a different response in people exposed to the same environmental factors. This study investigated the association of TaqIA (rs1800497) and -141C InsDel (rs1799732) variants in DRD2/ANKK1 gene with food intake and adiposity parameters in a cohort of children. The sample consisted of 270 children followed until 7 to 8 years old. DNA was extracted from blood and polymorphisms were detected by PCR-RFLP analysis...
July 23, 2018: Genetics and Molecular Biology
Muhammad Idrees, Abdul Rauf Siddiq, Muhammad Ajmal, Muhammad Akram, Rana Rehan Khalid, Alamdar Hussain, Raheel Qamar, Habib Bokhari
Paraoxonase 1 (PON1) is a serum enzyme associated with high density lipoprotein (HDL) regulation through its paraoxonase and arylesterase activity. PON1 inhibits the oxidation of HDL and low density lipoprotein (LDL), and is involved in the pathogenesis of a variety of diseases including atherosclerosis. Conversely, mutations in the low density lipoprotein receptor (LDLR) result in failure of receptor mediated endocytosis of LDL leading to its elevated plasma levels and onset of familial hypercholesterolemia (FH)...
July 23, 2018: Genetics and Molecular Biology
Na Xiao, Yi-Tong Tang, Zhi-Shan Li, Rui Cao, Rong Wang, Jiu-Ming Zou, Jiao Pei
This study aimed to develop a simple and rapid method to detect KRAS gene mutations for conventional clinical applications under laboratory conditions. The genotype of mutation sites was determined based on the occurrence of target bands in the corresponding lanes of the reaction tubes through polymerization-conjunction of the probes, probe purification and amplification, and agarose gel electrophoresis. Circulating DNA samples were obtained from the plasma of 72 patients with lung cancer, which were identified based on six mutation sites (G12S, G12R, G12C, G12D, G12A, and G12V) of codon 12 of the KRAS gene...
July 16, 2018: Genetics and Molecular Biology
Ana Lúcia Anversa Segatto, José Francisco Diesel, Elgion Lucio Silva Loreto, João Batista Teixeira da Rocha
The use of Drosophila as a scientific model is well established, but the use of cockroaches as experimental organisms has been increasing, mainly in toxicology research. Nauphoeta cinerea is one of the species that has been studied, and among its advantages is its easy laboratory maintenance. However, a limited amount of genetic data about N. cinerea is available, impeding gene identification and expression analyses, genetic manipulation, and a deeper understanding of its functional biology. Here we describe the N...
July 16, 2018: Genetics and Molecular Biology
Carolina Malcher, Guilherme L Yamamoto, Philip Burnham, Suzana A M Ezquina, Naila C V Lourenço, Sahilla Balkassmi, David S Marco Antonio, Gabriella S P Hsia, Thomaz Gollop, Rita C Pavanello, Marco Antonio Lopes, Egbert Bakker, Mayana Zatz, Débora Bertola, Iwijn De Vlaminck, Maria Rita Passos-Bueno
Our aim was to develop and apply a comprehensive noninvasive prenatal test (NIPT) by using high-coverage targeted next-generation sequencing to estimate fetal fraction, determine fetal sex, and detect trisomy and monogenic disease without parental genotype information. We analyzed 45 pregnancies, 40 mock samples, and eight mother-child pairs to generate 35 simulated datasets. Fetal fraction (FF) was estimated based on analysis of the single nucleotide polymorphism (SNP) allele fraction distribution. A Z-score was calculated for trisomy of chromosome 21 (T21), and fetal sex detection...
July 16, 2018: Genetics and Molecular Biology
Marcela Baer Pucci, Viviane Nogaroto, Orlando Moreira-Filho, Marcelo Ricardo Vicari
Eukaryotic genomes consist of several repetitive DNAs, including dispersed DNA sequences that move between chromosome sites, tandem repeats of DNA sequences, and multigene families. In this study, repeated sequences isolated from the genome of Characidium gomesi were analyzed and mapped to chromosomes in Characidium zebra and specimens from two populations of C. gomesi. The sequences were transposable elements (TEs) named retroelement of Xiphophorus (Rex); multigene families of U2 small nuclear RNA (U2 snRNA); and histones H1, H3, and H4...
July 16, 2018: Genetics and Molecular Biology
Yongjun Shu, Wei Li, Jinyue Zhao, Ying Liu, Changhong Guo
Medicago ruthenica is a perennial forage legume with the remarkable ability to survive under unfavorable environmental conditions. It has been identified as an excellent species of Medicago that can adapt to various environmental stresses including low temperature, drought, and salinity. To investigate its potential as a genetic resource, we performed transcriptome sequencing and analysis in M. ruthenica under abiotic stresses. We generated >120 million reads from six cDNA libraries, resulting in 79,249 unique transcripts, most of which were highly similar to transcripts from M...
June 28, 2018: Genetics and Molecular Biology
Paulo Eduardo Brandão
This paper reports on an investigation of the role of codon usage evolution on the suggested bovine-to-human spillover of Bovine coronavirus (BCoV), an enteric/respiratory virus of cattle, resulting in the emergence of the exclusively respiratory Human coronavirus OC43 (HCoV-OC43). Analyses based on full genomes of BCoV and HCoV-OC43 and on both human and bovine mRNAs sequences of cholecystokinin (CCK) and surfactant protein 1 A (SFTP1-A), representing the enteric and respiratory tract codon usage, respectively, have shown natural selection leading to optimization or deoptimization of viral codon usage to the human enteric and respiratory tracts depending on the virus genes under consideration...
June 28, 2018: Genetics and Molecular Biology
Min Jeong Hong, Dae Yeon Kim, Joon-Woo Ahn, Si-Yong Kang, Yong Weon Seo, Jin-Baek Kim
We aimed to investigate the biological responses induced by acute and chronic gamma irradiation in colored wheat seeds rich in natural antioxidants. After acute and chronic irradiation, the phenotypic effects on plant growth, germination rate, seedling height, and root length were examined, and the biochemical changes were investigated by analyzing the expression of antioxidant enzyme-related genes, antioxidant enzyme activities, and total antioxidant capacity. High dosages of chronic radiation reduced plant growth compared with the controls...
June 28, 2018: Genetics and Molecular Biology
Roberta Paresque, Jocilene da Silva Rodrigues, Kelli Beltrame Righetti
We have created a database system named CIPEMAB (CItogenética dos PEquenos MAmíferos Brasileiros) to assemble images of the chromosomes of Brazilian small mammals (Rodents and Marsupials). It includes karyotype information, such as diploid number, karyotype features, idiograms, and sexual chromosomes characteristics. CIPEMAB facilitates quick sharing of information on chromosome research among cytogeneticists as well as researchers in other fields. The database contains more than 300 microscopic images, including karyotypic images obtained from 182 species of small mammals from the literature...
June 28, 2018: Genetics and Molecular Biology
Diego Bejarano, Rodrigo Martínez, Carlos Manrique, Luis Miguel Parra, Juan Felipe Rocha, Yolanda Gómez, Yesid Abuabara, Jaime Gallego
The linkage disequilibrium (LD) between molecular markers affects the accuracy of genome-wide association studies and genomic selection application. High-density genotyping platforms allow identifying the genotype of thousands of single nucleotide polymorphisms (SNPs) distributed throughout the animal genomes, which increases the resolution of LD evaluations. This study evaluated the distribution of minor allele frequencies (MAF) and the level of LD in the Colombian Creole cattle breeds Blanco Orejinegro (BON) and Romosinuano (ROMO) using a medium density SNP panel (BovineSNP50K_v2)...
April 2018: Genetics and Molecular Biology
Carolina Furtado Torres-Silva, Bruno Marçal Repolês, Hugo Oliveira Ornelas, Andréa Mara Macedo, Glória Regina Franco, Sérgio Danilo Junho Pena, Erich Birelli Tahara, Carlos Renato Machado
Trypanosoma cruzi is the etiological agent of Chagas disease, a public health challenge due to its morbidity and mortality rates, which affects around 6-7 million people worldwide. Symptoms, response to chemotherapy, and the course of Chagas disease are greatly influenced by T. cruzi's intra-specific variability. Thus, DNA mutations in this parasite possibly play a key role in the wide range of clinical manifestations and in drug sensitivity. Indeed, the environmental conditions of oxidative stress faced by T...
April 2018: Genetics and Molecular Biology
Giovanna V Guidelli, Lucia Mattiello, Rafael H Gallinari, Paulo Cezar de Lucca, Marcelo Menossi
The successful development of genetically engineered monocots using Agrobacterium-mediated transformation has created an increasing demand for compatible vectors. We have developed a new expression vector, pGVG, for efficient transformation and expression of different constructs for gene overexpression and silencing in sugarcane. The pCAMBIA2300 binary vector was modified by adding Gateway recombination sites for fast gene transfer between vectors and the maize polyubiquitin promoter Ubi-1 (ZmUbi1), which is known to drive high gene expression levels in monocots...
April 2018: Genetics and Molecular Biology
Geralda Gillian Silva-Sena, Daniela Camporez, Lígia Ramos Dos Santos, Aline Sesana da Silva, Lúcia Helena Sagrillo Pimassoni, Alessandra Tieppo, Maria do Carmo Pimentel Batitucci, Renato Lírio Morelato, Flavia de Paula
Human longevity is a polygenic and multifactorial trait. Pathways related to lifespan are complex and involve molecular, cellular, and environmental processes. In this analytical observational study, we evaluated the relationship between environment factors, oxidative stress status, DNA integrity level, and the association of FOXO3 (rs2802292), SOD2 (rs4880), APOE (rs429358 and rs7412), and SIRT1 (rs2273773) polymorphisms with longevity in oldest-old individuals from southeastern Brazil. We found an association between the FOXO3 GG genotype and gender...
April 2018: Genetics and Molecular Biology
Zhen Gong, Jianyun Liu, Xin Xie, Xiaoyuan Xu, Ping Wu, Huimin Li, Yaqin Wang, Weidong Li, Jianjun Xiong
The ubiquitin-specific protease 22 (USP22) is an oncogene and its expression is upregulated in many types of cancer. In the nucleus, USP22 functions as one subunit of the SAGA to regulate gene transcription. However, the genome-wide USP22 binding sites and its direct target genes are yet clear. In this study, we characterized the potential genomic binding sites of UPS22 and GCN5 by ChIP-seq using specific antibodies in HeLa cells. There were 408 overlapping putative target genes bound by both USP22 and GCN5...
April 2018: Genetics and Molecular Biology
Igor Costa Amorim, Rafaelle Grazielle Coelho Costa, Crislaine Xavier, Rita de Cássia de Moura
Transposable elements are dispersed repetitive DNA sequences that can move within the genome and are related to genome and chromosome evolution, adaptation, and speciation. The aim of this study was to characterize and determine the chromosomal location and accumulation of a Mariner-like element in populations of four phylogenetically related species of the Dichotomius (Luederwaldtinia) sericeus complex. Mapping of the isolated element was performed by fluorescent in situ hybridization in different populations of analyzed species...
April 2018: Genetics and Molecular Biology
Eurico Camargo Neto, Jaqueline Schulte, Jamile Pereira, Heydy Bravo, Claudio Sampaio-Filho, Roberto Giugliani
We describe the initial results of a neonatal screening program for four lysosomal storage diseases (MPS I, Pompe, Gaucher and Fabry) using the digital microfluidics methodology. The method successfully identified patients previously diagnosed with these diseases and was used to test dried blood spot samples obtained from 10,527 newborns aged 2 to 14 days. The digital microfluidic technology shows potential for a simple, rapid and high-throughput screening for these four diseases in a standard neonatal screening laboratory...
April 2018: Genetics and Molecular Biology
Nahum Zepeta-Flores, Mahara Valverde, Alejandro Lopez-Saavedra, Emilio Rojas
The importance of glutathione (GSH) in alternative cellular roles to the canonically proposed, were analyzed in a model unable to synthesize GSH. Gene expression analysis shows that the regulation of the actin cytoskeleton pathway is strongly impacted by the absence of GSH. To test this hypothesis, we evaluate the effect of GSH depletion via buthionine sulfoximine (5 and 12.5 mM) in human neuroblastoma MSN cells. In the present study, 70% of GSH reduction did not induce reactive oxygen species, lipoperoxidation, or cytotoxicity, which enabled us to evaluate the effect of glutathione in the absence of oxidative stress...
April 2018: Genetics and Molecular Biology
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