Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil
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. (Source: Genetics and Molecular Biology)
Source: Genetics and Molecular Biology - June 25, 2018 Category: Genetics & Stem Cells Source Type: research
True polyploid meiosis in the human male
We describe a unique example of mosaic autotetraploidy in the meiosis of a human male. Although the original observations were made in the late 1960s, we did not publish them at that time, because we expected to detect further examples that could be described together. However, this did not occur and we have now decided to make the observations available to demonstrate that polyploidy in mammalian male meiosis can arise at a higher frequency than expected by random polyploidization of individual meiotic cells, by either DNA duplication or cell fusion prior to synapsis. This is the first description of a population of prima...
Source: Genetics and Molecular Biology - June 25, 2018 Category: Genetics & Stem Cells Source Type: research
Genetic variations in circadian rhythm genes and susceptibility for myocardial infarction
Abstract Disruption of endogenous circadian rhythms has been shown to increase the risk of developing myocardial infarction (MI), suggesting that circadian genes might play a role in determining disease susceptibility. We conducted a case-control study on 200 patients hospitalized due to MI and 200 healthy controls, investigating the association between MI and single nucleotide polymorphisms (SNPs) in four circadian genes (ARNTL, CLOCK, CRY2, and PER2). The variants of all four genes were chosen based on their previously reported association with cardiovascular risk factors, which have a major influence on the occurrence o...
Source: Genetics and Molecular Biology - June 25, 2018 Category: Genetics & Stem Cells Source Type: research
Gender-specific association of the rs6499640 polymorphism in the FTO gene with plasma lipid levels in Chinese children
Abstract The fat mass- and obesity-associated gene (FTO) is significantly associated with obesity, but the associations of FTO with obesity-related traits are not fully described. We aimed to investigate the association of the FTO single nucleotide polymorphism (SNP) rs6499640 with lipid levels in Chinese children. A total of 3503 children aged 6-18 years were included in the present study. Lipid levels were analyzed and the SNP rs6499640 was genotyped using the TaqMan Allelic Discrimination Assay. Statistically significant associations were found between rs6499640 and low-density lipoprotein cholesterol (LDL-C) (p = 0.008...
Source: Genetics and Molecular Biology - June 25, 2018 Category: Genetics & Stem Cells Source Type: research
An association study of FOXO3 variant and longevity
This study is the first to demonstrate that FOXO3 could be a candidate gene for longevity in the Brazilian population. These results are important in terms of provisions of health care for age-related diseases and lifespan, and provide insight for further research on epigenetic, gene regulation, and expression in oldest-old individuals. (Source: Genetics and Molecular Biology)
Source: Genetics and Molecular Biology - June 25, 2018 Category: Genetics & Stem Cells Source Type: research
Biochemical and molecular characterization of 3-Methylcrotonylglycinuria in an Italian asymptomatic girl
Abstract 3-Methylcrotonylglycinuria is an organic aciduria resulting from deficiency of 3-methylcrotonyl-CoA carboxylase (3-MCC), a biotin-dependent mitochondrial enzym carboxylating 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA during leucine catabolism. Its deficiency, due to mutations on MCCC1 and MCCC2 genes, leads to accumulation of 3-methylcrotonyl-CoA metabolites in blood and/or urine, primarily 3-hydroxyisovaleryl-carnitine (C5-OH) in plasma and 3-methylcrotonyl-glycine (3-MCG) and 3-hydroxyisovaleric acid (3-HIVA) in the urine. The phenotype of 3-MCC deficiency is highly variable, ranging from severe neurological...
Source: Genetics and Molecular Biology - June 25, 2018 Category: Genetics & Stem Cells Source Type: research
The UCP2 -866G/A, Ala55Val and UCP3 -55C/T polymorphisms are associated with premature coronary artery disease and cardiovascular risk factors in Mexican population
We examined the role of UCP gene polymorphisms as susceptibility markers for premature coronary artery disease (pCAD). The UCP2 Ala55Val (C/T rs660339), UCP2 -866G/A (rs659366), and UCP3 -55C/T (rs1800849) polymorphisms were genotyped in 948 patients with pCAD, and 763 controls. The distribution of the UCP2 A55V (C/T rs660339) and UCP3 -55 (rs1800849) was similar in patients and controls. However, under a recessive model, the UCP2 -866 (rs659366) A allele was associated with increased risk of developing pCAD (OR = 1.43, Pc = 0.003). On the other hand, patients with pCAD and UCP2 A55V (rs660339) TT showed high levels of vis...
Source: Genetics and Molecular Biology - June 25, 2018 Category: Genetics & Stem Cells Source Type: research
Genome-wide analysis of the Glycerol-3-Phosphate Acyltransferase (GPAT) gene family reveals the evolution and diversification of plant GPATs
Abstract sn-Glycerol-3-phosphate 1-O-acyltransferase (GPAT) is an important enzyme that catalyzes the transfer of an acyl group from acyl-CoA or acyl-ACP to the sn-1 or sn-2 position of sn-glycerol-3-phosphate (G3P) to generate lysophosphatidic acids (LPAs). The functional studies of GPAT in plants demonstrated its importance in controlling storage and membrane lipid. Identifying genes encoding GPAT in a variety of plant species is crucial to understand their involvement in different metabolic pathways and physiological functions. Here, we performed genome-wide and evolutionary analyses of GPATs in plants. GPAT genes were ...
Source: Genetics and Molecular Biology - April 16, 2018 Category: Genetics & Stem Cells Source Type: research
Molecular evolution and functional divergence of alcohol dehydrogenases in animals, fungi and plants
Abstract Alcohol dehydrogenases belong to the large superfamily of medium-chain dehydrogenases/reductases, which occur throughout the biological world and are involved with many important metabolic routes. We considered the phylogeny of 190 ADH sequences of animals, fungi, and plants. Non-class III Caenorhabditis elegans ADHs were seen closely related to tetrameric fungal ADHs. ADH3 forms a sister group to amphibian, reptilian, avian and mammalian non-class III ADHs. In fishes, two main forms are identified: ADH1 and ADH3, whereas in amphibians there is a new ADH form (ADH8). ADH2 is found in Mammalia and Aves, and they fo...
Source: Genetics and Molecular Biology - April 16, 2018 Category: Genetics & Stem Cells Source Type: research
Genetic and ecological niche modeling of Calydorea crocoides (Iridaceae): an endemic species of Subtropical Highland Grasslands
Abstract Evolutionary analyses have been widely used for evaluation of genetic diversity of natural populations and correlate these data to the fitness of the species, especially in the case of threatened species. Calydorea crocoides occurs in a restricted area at altitudes from 800 to 1500 m in southern Brazil and is considered endangered. A study assessing genetic diversity, cytogenetic features and ecological niche was performed aiming to characterize C. crocoides by multidisciplinary approaches. Molecular data highlighted that most of the total variation (76%; p< 0.001) was found within populations and the parameter...
Source: Genetics and Molecular Biology - April 16, 2018 Category: Genetics & Stem Cells Source Type: research
Ecological drivers of plant genetic diversity at the southern edge of geographical distributions: Forestal vines in a temperate region
Abstract The Tropical Niche Conservatism hypothesis is one of the most relevant theories to explain why tropical diversity is high, although the mechanisms underlying this hypothesis require further clarification. A possible research avenue to address the underlying mechanisms includes determining population-level processes associated with such a hypothesis, in particular by trying to identify how adaptation may occur in extreme niche conditions at the edges of species ranges. However, the determinants of molecular diversity at the edges of geographical distributions of tropical taxa are still poorly known. Here we assesse...
Source: Genetics and Molecular Biology - April 16, 2018 Category: Genetics & Stem Cells Source Type: research
Genetic diversity and population structure of Vriesea reitzii (Bromeliaceae), a species from the Southern Brazilian Highlands
Abstract The Southern Brazilian Highlands are composed by a mosaic of Mixed Ombrophilous Forest (MOF) and grassland formations, an interesting landscape for the study of population structure. We analyzed the genetic diversity within and among populations of the MOF-endemic bromeliad Vriesea reitzii by genotyping seven nuclear microsatellite loci in 187 individuals from six populations. We characterized levels of genetic diversity and assessed the genetic structure among populations. Vriesea reitzii populations showed high levels of genetic variation (number of alleles 28 - 43, allelic richness 3.589 - 5.531) and moderate l...
Source: Genetics and Molecular Biology - April 16, 2018 Category: Genetics & Stem Cells Source Type: research
Cytological and genome size data analyzed in a phylogenetic frame: Evolutionary implications concerning Sisyrinchium taxa (Iridaceae: Iridoideae)
This study aimed at investigating how genomes evolved in this genus. Chromosome number, genome size and altitude from species of sect. Viperella were analyzed in a phylogenetic context. Meiotic and pollen analyses were performed to assess reproductive success of natural populations, especially from those polyploid taxa. Character optimizations revealed that the common ancestor of sect. Viperella was probably diploid (2n = 2x =18) with two subsequent polyplodization events. Total DNA content (2C) varied considerably across the phylogeny with larger genomes detected mainly in polyploid species. Altitude also varied across th...
Source: Genetics and Molecular Biology - April 16, 2018 Category: Genetics & Stem Cells Source Type: research
Phylogeographic analyses of the pampas cat (Leopardus colocola; Carnivora, Felidae) reveal a complex demographic history
Abstract The pampas cat is a small felid that occurs in open habitats throughout much of South America. Previous studies have revealed intriguing patterns of morphological differentiation and genetic structure among its populations, as well as molecular evidence for hybridization with the closely related L. tigrinus. Here we report phylogeographic analyses encompassing most of its distribution (focusing particularly on Brazilian specimens, which had been poorly sampled in previous studies), using a novel dataset comprising 2,143 bp of the mitogenome, along with previously reported mtDNA sequences. Our data revealed strong ...
Source: Genetics and Molecular Biology - April 16, 2018 Category: Genetics & Stem Cells Source Type: research
Skull shape and size variation within and between mendocinus and torquatus groups in the genus Ctenomys (Rodentia: Ctenomyidae) in chromosomal polymorphism context
Abstract We tested the association between chromosomal polymorphism and skull shape and size variation in two groups of the subterranean rodent Ctenomys. The hypothesis is based on the premise that chromosomal rearrangements in small populations, as it occurs in Ctenomys, produce reproductive isolation and allow the independent diversification of populations. The mendocinus group has species with low chromosomal diploid number variation (2n=46-48), while species from the torquatus group have a higher karyotype variation (2n=42-70). We analyzed the shape and size variation of skull and mandible by a geometric morphometric a...
Source: Genetics and Molecular Biology - April 16, 2018 Category: Genetics & Stem Cells Source Type: research
