Genetic variants in the G gamma-globin promoter modulate fetal hemoglobin expression in the Colombian population
Abstract Fetal hemoglobin (HbF) is a determining factor for the development of sickle cell anemia. High HbF levels lower the intensity of symptoms of this disease. HbF levels can vary in patients with sickle cell anemia and individuals without the disease. The purpose of this study was to identify the genetic variants in the G gamma-globin gene promoter that can modulate HbF expression in patients with sickle cell anemia and healthy individuals from Colombia. In total, 413 bp of the G gamma-globin gene promoter were sequenced in 60 patients with sickle cell anemia and 113 healthy individuals. The allelic and genotype frequ...
Source: Genetics and Molecular Biology - April 23, 2020 Category: Genetics & Stem Cells Source Type: research

[RETRACTION]: Expression of serum microRNA-378 and its clinical significance in renal cell carcinoma
Abstract The transcription factor DMRT1 (doublesex and mab-3 related transcription factor) has two distinct functions, somatic-cell masculinization and germ-cell development in some vertebrate species, including mouse and the African clawed frog Xenopus laevis. However, its transcriptional regulation remains unclear. We tried to identify DMRT1-interacting proteins from X. laevis testes by immunoprecipitation with an anti-DMRT1 antibody and MS/MS analysis, and selected three proteins, including PACT/PRKRA (Interferon-inducible double-stranded RNA dependent protein kinase activator A) derived from testes. Next, we examined t...
Source: Genetics and Molecular Biology - April 6, 2020 Category: Genetics & Stem Cells Source Type: research

PACT/PRKRA and p53 regulate transcriptional activity of DMRT1
Abstract The transcription factor DMRT1 (doublesex and mab-3 related transcription factor) has two distinct functions, somatic-cell masculinization and germ-cell development in some vertebrate species, including mouse and the African clawed frog Xenopus laevis. However, its transcriptional regulation remains unclear. We tried to identify DMRT1-interacting proteins from X. laevis testes by immunoprecipitation with an anti-DMRT1 antibody and MS/MS analysis, and selected three proteins, including PACT/PRKRA (Interferon-inducible double-stranded RNA dependent protein kinase activator A) derived from testes. Next, we examined t...
Source: Genetics and Molecular Biology - March 30, 2020 Category: Genetics & Stem Cells Source Type: research

Role of the MAPK pathway in human lung epithelial-like A549 cells apoptosis induced by paraquat
This study aims to investigate the value of mitogen-activated protein kinases (MAPKs) for paraquat (PQ)-induced apoptosis in human lung epithelial-like A549 cells and the specific mechanism. A549 cell apoptosis were induced by PQ. These cells were divided into six groups: control group (cells were cultured in RPMI-1640 medium); SP600125 group (cells were preconditioned with SP600125); SB203580 group (cells were preconditioned with SB203580); PQ group (cells were treated with PQ); SP600125+PQ group (cells were preconditioned with SP600125 following PQ); SB203580+PQ group (cells were preconditioned with SB203580 following PQ...
Source: Genetics and Molecular Biology - March 30, 2020 Category: Genetics & Stem Cells Source Type: research

The distribution of 45S rDNA sites in bird chromosomes suggests multiple evolutionary histories
Abstract The distribution of 45S rDNA cluster in avian karyotypes varies in different aspects, such as position, number of bearer chromosomes, and bearers being macro- or microchromosomes. The present study investigated the patterns of variation in the 45S rDNA-bearer chromosomes of birds in order to understand the evolutionary dynamics of the cluster configuration and its contribution to the evolution of bird karyotypes. A total of 73 bird species were analyzed, including both published data and species for which rDNA-FISH was conducted for the first time. In most birds, the 45S rDNA clusters were located in a single pair...
Source: Genetics and Molecular Biology - March 30, 2020 Category: Genetics & Stem Cells Source Type: research

Epistasis of polymorphisms related to the articular cartilage extracellular matrix in knee osteoarthritis: Analysis-based multifactor dimensionality reduction
Abstract Osteoarthritis (OA) is a complex disease with a multifactorial etiology. The genetic component is one of the main associated factors, resulting from interactions between genes and environmental factors. The aim of this study was to identify gene-gene interactions (epistasis) of the articular cartilage extracellular matrix (ECM) in knee OA. Ninety-two knee OA patients and 147 healthy individuals were included. Participants were genotyped in order to evaluate nine variants of eight genes associated with ECM metabolism using the OpenArray technology. Epistasis was analyzed using the multifactor dimensionality reducti...
Source: Genetics and Molecular Biology - March 27, 2020 Category: Genetics & Stem Cells Source Type: research

-866G/A and Ins/Del polymorphisms in the UCP2 gene and diabetic kidney disease: case-control study and meta-analysis
In conclusion, our case-control and meta-analysis studies did not indicate an association between the analyzed UCP2 polymorphisms and DKD. (Source: Genetics and Molecular Biology)
Source: Genetics and Molecular Biology - March 27, 2020 Category: Genetics & Stem Cells Source Type: research

Molecular identification of Mazama species (Cervidae: Artiodactyla) from natural history collections
Abstract Natural history museum collections constitute an invaluable patrimony of biological diversity for analysing the taxa distribution and evolution. However, it is very common to discover taxonomic misidentification in museum collections based on incorrect data. The aim of this research was to identify brocket deer species (Mazama genus) using molecular markers. We collected 199 samples, performed DNA extraction and species identification using a specific mitochondrial marker based on a fragment of cytochrome b (Cytb) for Neotropical deer. We achieved the amplification and sequencing of 77 specimens and verified that ...
Source: Genetics and Molecular Biology - March 23, 2020 Category: Genetics & Stem Cells Source Type: research

Ecological setup, ploidy diversity, and reproductive biology of Paspalum modestum, a promising wetland forage grass from South America
In this study we characterize the species' reproductive biology and ecological preferences needed beforehand any improvement. P. modestum plants found in nature are commonly diploids, rarely triploids, and tetraploids. Chromosome associations during meiosis in polyploids indicate they are autopolyploids. While diploids are sexual self-sterile, analyses of embryology, gamete fertility and experimental crossings show tetraploids are self-compatible facultative apomicts, highly fertile and have a high proportion of sexuality compared to other apomictic species. Ecological niche analysis and species distribution modelling show...
Source: Genetics and Molecular Biology - February 11, 2020 Category: Genetics & Stem Cells Source Type: research

Underrated Staphylococcus species and their role in antimicrobial resistance spreading
Abstract The increasing threat of antimicrobial resistance has shed light on the interconnection between humans, animals, the environment, and their roles in the exchange and spreading of resistance genes. In this review, we present evidences that show that Staphylococcus species, usually referred to as harmless or opportunistic pathogens, represent a threat to human and animal health for acting as reservoirs of antimicrobial resistance genes. The capacity of genetic exchange between isolates of different sources and species of the Staphylococcus genus is discussed with emphasis on mobile genetic elements, the contribution...
Source: Genetics and Molecular Biology - February 11, 2020 Category: Genetics & Stem Cells Source Type: research

Identification of environmental and genetic factors that influence warfarin time in therapeutic range
Abstract Warfarin is an oral anticoagulant prescribed to prevent and treat thromboembolic disorders. It has a narrow therapeutic window and must have its effect controlled. Prothrombin test, expressed in INR value, is used for dose management. Time in therapeutic range (TTR) is an important outcome of quality control of anticoagulation therapy and is influenced by several factors. The aim of this study was to identify genetic, demographic, and clinical factors that can potentially influence TTR. In total,422 patients using warfarin were investigated. Glibenclamide co-medication and presence of CYP2C9*2 and/or *3 alleles we...
Source: Genetics and Molecular Biology - February 11, 2020 Category: Genetics & Stem Cells Source Type: research

The future of plant biotechnology in a globalized and environmentally endangered world
Abstract This paper draws on the importance of science-based agriculture in order to throw light on the way scientific achievements are at the basis of modern civilization. An overview of literature on plant biotechnology innovations and the need to steer agriculture towards sustainability introduces a series of perspectives on how plant biotech can contribute to the major challenge of feeding our super population with enough nutritious food without further compromise of the environment. The paper argues that science alone will not solve problems. Three major forces - science, the economy and society - shape our modern wor...
Source: Genetics and Molecular Biology - December 20, 2019 Category: Genetics & Stem Cells Source Type: research

DNA repair genes in astrocytoma tumorigenesis, progression and therapy resistance
Abstract Glioblastoma (GBM) is the most common and malignant type of primary brain tumor, showing rapid development and resistance to therapies. On average, patients survive 14.6 months after diagnosis and less than 5% survive five years or more. Several pieces of evidence have suggested that the DNA damage signaling and repair activities are directly correlated with GBM phenotype and exhibit opposite functions in cancer establishment and progression. The functions of these pathways appear to present a dual role in tumorigenesis and cancer progression. Activation and/or overexpression of ATRX, ATM and RAD51 genes were exte...
Source: Genetics and Molecular Biology - December 14, 2019 Category: Genetics & Stem Cells Source Type: research

How history and geography may explain the distribution in the Comorian archipelago of a novel mutation in DNA repair-deficient xeroderma pigmentosum patients
Abstract Xeroderma pigmentosum (XP) is a rare, genetic, autosomal nucleotide excision repair-deficient disease characterized by sun-sensitivity and early appearance of skin and ocular tumors. Thirty-two black-skinned XP from Comoros, located in the Indian Ocean, were counted, rendering this area the highest world prevalence of XP. These patients exhibited a new homozygous XPC mutation at the 3 ’ -end of the intron12 (IVS 12-1G>C) leading to the absence of XPC protein. This mutation, characteristic of the consanguineous Comorian families, is associated with a founder effect with an estimated age of about 800 years. Ana...
Source: Genetics and Molecular Biology - December 14, 2019 Category: Genetics & Stem Cells Source Type: research

ADP-ribosylation: from molecular mechanisms to human disease
Abstract Post-translational modification of proteins by ADP-ribosylation, catalysed by poly (ADP-ribose) polymerases (PARPs) using NAD+ as a substrate, plays central roles in DNA damage signalling and repair, modulates a range of cellular signalling cascades and initiates programmed cell death by parthanatos. Here, we present mechanistic aspects of ADP-ribose modification, PARP activation and the cellular functions of ADP-ribose signalling, and discuss how this knowledge is uncovering therapeutic avenues for the treatment of increasingly prevalent human diseases such as cancer, ischaemic damage and neurodegeneration. (Sour...
Source: Genetics and Molecular Biology - December 14, 2019 Category: Genetics & Stem Cells Source Type: research