Mitochondrial DNA Variation in Peruvian Honey Bee (Apis mellifera L.) Populations Using the tRNAleu-cox2 Intergenic Region

Mitochondrial DNA variations of Peruvian honey bee populations were surveyed by using the tRNAleu-cox2 intergenic region. Only two studies have characterized these populations, indicating the presence of Africanized honey bee colonies in different regions of Peru and varied levels of Africanization, but the current status of its genetic diversity is unknown. A total of 512 honey bee colonies were sampled from three regions to characterize them. Our results revealed the presence of European and African haplotypes: the African haplotypes identified belong to sub-lineage AI (13) and sub-lineage AIII (03), and the European haplotypes to lineages C (06) and M (02). Of 24 haplotypes identified, 15 new sequences are reported here (11 sub-lineage AI, 2 sub-lineage AIII, and 2 lineage M). Peruvian honey bee populations presented a higher proportion from African than European haplotypes. High proportions of African haplotype were reported for Piura and Junín, unlike Lima, which showed more European haplotypes from lineage C. Few colonies belonging to lineage M would represent accidental purchase or traces of the introduction into Peru in the 19th century.

Application of Nanotechnology for Sensitive Detection of Low-Abundance Single-Nucleotide Variations in Genomic DNA: A Review

Single-nucleotide polymorphisms (SNPs) are the simplest and most common type of DNA variations in the human genome. This class of attractive genetic markers, along with point mutations, have been associated with the risk of developing a wide range of diseases, including cancer, cardiovascular diseases, autoimmune diseases, and neurodegenerative diseases. Several existing methods to detect SNPs and mutations in body fluids have faced limitations. Therefore, there is a need to focus on developing noninvasive future polymerase chain reaction (PCR)–free tools to detect low-abundant SNPs in such specimens. The detection of small concentrations of SNPs in the presence of a large background of wild-type genes is the biggest hurdle. Hence, the screening and detection of SNPs need efficient and straightforward strategies. Suitable amplification methods are being explored to avoid high-throughput settings and laborious efforts. Therefore, currently, DNA sensing methods are being explored for the ultrasensitive detection of SNPs based on the concept of nanotechnology. Owing to their small size and improved surface area, nanomaterials hold the extensive capacity to be used as biosensors in the genotyping and highly sensitive recognition of single-base mismatch in the presence of incomparable wild-type DNA fragments. Different nanomaterials have been combined with imaging and sensing techniques and amplification methods to facilitate the less time-consuming and easy detection of SNPs in different diseases. This review aims to highlight some of the most recent findings on the aspects of nanotechnology-based SNP sensing methods used for the specific and ultrasensitive detection of low-concentration SNPs and rare mutations.

Genetic variation in Luman/CREB3 and association with stress and meat quality traits in Yorkshire pigs

LUMAN/CREB3 is a stress regulatory gene that affects activity of the hypothalamic-pituitary-adrenal axis in mice and presents a promising avenue for exploring variable stress-responsiveness in pigs. Pigs with similar characteristics to LUMAN-deficient mice, including greater resilience to stress and receptivity to human handling, would be valuable in the pork industry from animal welfare and production efficiency perspectives. We previously identified eight genetic variations and five haplotypes throughout the LUMAN locus in Yorkshire pigs. In this study we analysed associations between LUMAN variations with behavioural stress response during three tests (open field test, novel object test, and human approach test), physiological stress-responsiveness (cortisol), and carcass/meat quality measurements from purebred Yorkshire pigs. Haplotypes A1 and A2 were associated with decreased activity levels in novel environments and greater plasma cortisol concentrations at slaughter. Haplotype A1 was associated with lower carcass scratch scores and meat with lower cooking losses and greater tenderness. Haplotypes B1 and B2 were associated with the opposite traits including increased activity levels in novel environments and characteristics for lower meat quality including greater cooking losses, lower marbling, and paler coloured meat. We conclude that DNA variations in the LUMAN locus could potentially be used as genetic markers for stress resistance and meat quality in pig breeding.

Viola: a structural variant signature extractor with user-defined classifications

Here, we present Viola, a Python package that provides structural variant (SV; large scale genome DNA variations that can result in disease, e.g., cancer) signature analytical functions and utilities for custom SV classification, merging multi-SV-caller output files, and SV annotation. We demonstrate that Viola can extract biologically meaningful SV signatures from publicly available SV data for cancer and we evaluate the computational time necessary for annotation of the data.

The Relevance of Noncoding DNA Variations of Paraoxonase Gene Cluster in Atherosclerosis-Related Diseases

The human paraoxonase (PON) gene cluster is comprised of three contiguous genes (PON1, PON2 and PON3) of presumably common origin coding three lactonases of highly similar structure and substrate specificity. The catalytic activity of PON proteins is directed toward artificial organophosphates and in physiological conditions toward thiolactones and oxidized phospholipids. Consequently, PON enzymes are regarded as an effective defense against oxidative stress and, as a result, against atherosclerosis development. Additionally, both PON’s serum activity and its concentration are influenced by several polymorphic variations in coding and noncoding DNA regions of the PON gene cluster remaining in linkage disequilibrium. Hence, the genetic polymorphism of the PON gene cluster may contribute to atherosclerotic process progression or deceleration. In this review the authors analyzed the relevance of noncoding DNA polymorphic variations of PON genes in atherosclerosis-related diseases involving coronary and peripheral artery disease, stroke, diabetes mellitus, dementia and renal disease and concluded that the effect of PON gene cluster’ polymorphism has a considerable impact on the course and outcome in these conditions. The following PON genetic variations may serve as additional predictors of the risk of atherosclerosis in selected populations and individuals.

Mitochondrial DNA Variations in Colombian Creole Sheep Confirm an Iberian Origin and Shed Light on the Dynamics of Introduction Events of African Genotypes

The genetic origins and diversity of Creole sheep from five regions of Colombia were investigated based on mitochondrial DNA (mtDNA) variations across 89 sequences from five breeds: one wool Creole sheep (CL) and four hair Creole sheep, including Ethiopian (OPCE), Sudan (OPCS), Pelibuey (OPCP) and Wayúu (OPCW). A global comparison was done using 62 haplotypes from Iberian, African, Indian, Caribbean, Mexican, Caucasian and European sheep based on sequences retrieved from GenBank. This study aimed to identify the maternal origin of Colombian Creole sheep and their genetic relationships at a global level. The results showed 31 different haplotypes from Colombian Creole sheep, which can be assigned to maternal lineage B, the most common lineage found in European sheep breeds and the only one found in several Iberian breed (e.g., Churra, Spanish Merino) that most likely participated in the Creole formation. Additional analyses showed that wool and hair sheep retained a broad genetic identity despite being geographically separated. The global-level phylogenetic analysis revealed that Colombian Creole sheep belong to a distinct and defined genetic lineage that is likely the result of a founder effect with ecotypes of Iberian descent and the subsequent introduction of foreign breeds. This is consistent with historical reports on the presence of sheep in South America and, particularly, Colombia.

The Mitochondrial Dysfunction Hypothesis in Autism Spectrum Disorders: Current Status and Future Perspectives

Autism spectrum disorders (ASDs) constitute a set of heterogeneous neurodevelopmental conditions, characterized by a wide genetic variability that has led to hypothesize a polygenic origin. The metabolic profiles of patients with ASD suggest a possible implication of mitochondrial pathways. Although different physiological and biochemical studies reported deficits in mitochondrial oxidative phosphorylation in subjects with ASD, the role of mitochondrial DNA variations has remained relatively unexplored. In this review, we report and discuss very recent evidence to demonstrate the key role of mitochondrial disorders in the development of ASD.

Enrichment of Different Plant Seeds with Zinc and Assessment of Health Risk of Zn-Fortified Sprouts Consumption

Zinc (Zn) is a nutrient that regulates many vital functions of the human body, hence the demand for Zn in the balanced daily nutrition has to be covered. Priming of seeds with Zn for Zn-enriched sprout production can be considered a good alternative to artificial supplementation in a modern diet. Hence, the aim of our study was to determine the exposure level of Zn bringing neither risk for humans nor growth inhibition of enriched broccoli, pea and sunflower sprouts. Seeds treated with 0, 10, 20 and 30 μg mL−1 ZnSO4 responded in a differentiated way to Zn. Pea seed germination and sprout growth was diminished by 30 μg mL−1 ZnSO4, but for sunflower sprouts this Zn level resulted in the highest fresh mass and largest hypocotyls. Zn content in sprouts greatly increased in a dose-dependent manner, mostly in broccoli (up to 25 times) and peas (up to 4 times), and to a lesser extent (up to 120%) for sunflowers. Free radical scavenging activity was usually decreased. Considering the potential non-carcinogenic risk of sprouts consumption estimated by the hazard analysis, the safest exposure level for seed priming will be 10 μg mL−1 ZnSO4. It was confirmed by random amplification of polymorphic DNA analyses indicating no DNA variations in sprouts treated with 10 μg mL−1 ZnSO4 compared to the control.