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Genetics and Molecular Biology

Roberto Giugliani, Stephanie Westwood, Hartmann Wellhoefer, Jörn Schenk, Andrey Gurevich, Christoph Kampmann
Anderson-Fabry disease (AFD) is a rare lysosomal storage disorder. Randomized controlled clinical trials (RCTs) are preferred as the highest category of evidence, but limited availability of robust evidence in rare diseases may necessitate the use of less rigorous evidence. An analysis of cohort studies of enzyme replacement therapies for AFD published in 2017 by El Dib and coworkers made treatment recommendations that contradict previously published findings from RCTs and a systematic Cochrane review. Our commentary outlines concerns regarding selection criteria and statistical methods with their analysis...
October 11, 2018: Genetics and Molecular Biology
Juliane Karine Ishida, Danielle G G Caldas, Lucas Roberto Oliveira, Gabriela Campos Frederici, Lucas Margato Pereira Leite, Tsai Siu Mui
Transporter proteins play an essential role in the uptake, trafficking and storage of metals in plant tissues. The Natural Resistance-Associated Macrophage Protein (NRAMP) family plays an essential role in divalent metal transport. We conducted bioinformatics approaches to identify seven NRAMP genes in the Phaseolus vulgaris genome, investigated their phylogenetic relation, and performed transmembrane domain and gene/protein structure analyses. We found that the NRAMP gene family forms two distinct groups. One group included the PvNRAMP1, -6, and -7 genes that share a fragmented structure with a numerous exon/intron organization and encode proteins with mitochondrial or plastidial localization...
October 11, 2018: Genetics and Molecular Biology
Rashmi Aggarwal, Deepika Kulshreshtha, Sapna Sharma, Vaibhav K Singh, Channappa Manjunatha, Subhash C Bhardwaj, Mahender S Saharan
Stripe rust caused by Puccinia striiformis f. sp. tritici (Pst) is one of the most devastating diseases of wheat (Triticum spp.) worldwide. Indian isolates were characterised based on their phenotypic reaction on differential hosts carrying different Yr genes. Based on virulence/avirulence structure, isolates were characterised into ten different pathotypes viz. 70S0-2, 67S64, 70S4, 66S0, 70S64, 66S64-1, 38S102, 47S102, 46S119, and 78S84. These Indian pathotypes of P. striiformis f. sp. tritici and 38 pathotypes of other rust species (P...
September 21, 2018: Genetics and Molecular Biology
Renato A Ferreira de Lima, Alexandre Adalardo de Oliveira, Gabriel Dalla Colletta, Thiago Bevilacqua Flores, Rubens L Gayoso Coelho, Pedro Dias, Gabriel Ponzoni Frey, Amaia Iribar, Ricardo Ribeiro Rodrigues, Vinícius Castro Souza, Jérôme Chave
DNA barcoding helps to identify species, especially when identification is based on parts of organisms or life stages such as seeds, pollen, wood, roots or juveniles. However, the implementation of this approach strongly depends on the existence of complete reference libraries of DNA sequences. If such a library is incomplete, DNA-based identification will be inefficient. Here, we assess if DNA barcoding can already be implemented in species-rich tropical regions. We focus on the tree flora of São Paulo state, Brazil, which contains more than 2000 tree species...
July 2018: Genetics and Molecular Biology
Karina Colonetti, Luiz Fernando Roesch, Ida Vanessa Doederlein Schwartz
Research into the influence of the microbiome on the human body has been shedding new light on diseases long known to be multifactorial, such as obesity, mood disorders, autism, and inflammatory bowel disease. Although inborn errors of metabolism (IEMs) are monogenic diseases, genotype alone is not enough to explain the wide phenotypic variability observed in patients with these conditions. Genetics and diet exert a strong influence on the microbiome, and diet is used (alone or as an adjuvant) in the treatment of many IEMs...
July 2018: Genetics and Molecular Biology
Taciane Finatto, Vívian Ebeling Viana, Leomar Guilherme Woyann, Carlos Busanello, Luciano Carlos da Maia, Antonio Costa de Oliveira
WRKY transcription factors (TFs) are responsible for the regulation of genes responsive to many plant growth and developmental cues, as well as to biotic and abiotic stresses. The modulation of gene expression by WRKY proteins primarily occurs by DNA binding at specific cis-regulatory elements, the W-box elements, which are short sequences located in the promoter region of certain genes. In addition, their action can occur through interaction with other TFs and the cellular transcription machinery. The current genome sequences available reveal a relatively large number of WRKY genes, reaching hundreds of copies...
July 2018: Genetics and Molecular Biology
Lu Zhang, Weijuan Hu, Yike Gao, Huitang Pan, Qixiang Zhang
We cloned and characterized the full-length coding sequence of a small heat shock (sHSP) gene, PfHSP17.2, from Primula forrestii leaves following heat stress treatment. Homology and phylogenetic analysis suggested that PfHSP17.2 is a cytosolic class II sHSP, which was further supported by the cytosolic localization of transient expression of PfHSP17.2 fused with green fluorescent protein reporter. Expression analysis showed that PfHSP17.2 was highly inducible by heat stress in almost all the vegetative and generative tissues and was expressed under salt, cold, and oxidative stress conditions as well...
July 2018: Genetics and Molecular Biology
Michelle Pires Rincão, Mayra Costa da Cruz Gallo de Carvalho, Leandro Costa Nascimento, Valéria S Lopes-Caitar, Kenia de Carvalho, Luana M Darben, Alessandra Yokoyama, Marcelo Falsarella Carazzolle, Ricardo Vilela Abdelnoor, Francismar Correa Marcelino-Guimarães
Asian soybean rust (ASR) is one of the most destructive diseases affecting soybeans. The causative agent of ASR, the fungus Phakopsora pachyrhizi, presents characteristics that make it difficult to study in vitro, limiting our knowledge of plant-pathogen dynamics. Therefore, this work used leaf lesion laser microdissection associated with deep sequencing to determine the pathogen transcriptome during compatible and incompatible interactions with soybean. The 36,350 generated unisequences provided an overview of the main genes and biological pathways that were active in the fungus during the infection cycle...
July 2018: Genetics and Molecular Biology
Nicholas Costa Barroso Lima, André Elias Rodrigues Soares, Luiz Gonzaga de Paula Almeida, Igor Rodrigues da Costa, Fernanda Midori Sato, Patricia Schneider, Alexandre Aleixo, Maria Paula Schneider, Fabrício R Santos, Claudio V Mello, Cristina Miyaki, Ana Tereza R Vasconcelos, Francisco Prosdocimi
Amazon parrots are long-lived birds with highly developed cognitive skills, including vocal learning. Several parrot mitogenomes have been sequenced, but important aspects of their organization and evolution are not fully understood or have limited experimental support. The main aim of the present study was to describe the mitogenome of the blue-fronted Amazon, Amazona aestiva, and compare it to other mitogenomes from the genus Amazona and the order Psittaciformes. We observed that mitogenomes are highly conserved among Amazon parrots, and a detailed analysis of their duplicated control regions revealed conserved blocks...
July 2018: Genetics and Molecular Biology
Antonio Marcio Gomes Martins-Junior, Jeferson Carneiro, Iracilda Sampaio, Stephen F Ferrari, Horacio Schneider
Capuchin monkeys are currently represented by four species of Cebus and eight of Sapajus. This group is taxonomically complex and several questions still need to be clarified. In the current study, using mtDNA markers and a larger sample representation than in previous studies, we seek to understand the phylogenetic relationships among the capuchin lineages and their historical biogeography. All 12 species of capuchins were analyzed for the mitochondrial Control Region and Cytochrome b to test two biogeographical hypotheses: "Reinvasion of the Amazon (ROA)" and "Sympatric Evolution (SEV)"...
July 2018: Genetics and Molecular Biology
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July 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 2018: 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...
July 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 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 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 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 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 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 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...
July 2018: Genetics and Molecular Biology
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