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https://www.readbyqxmd.com/read/28545030/mitochondrial-dna-sequencing-and-large-scale-genotyping-identifies-mt-nd4-gene-mutation-m-11696g-a-associated-with-idiopathic-oligoasthenospermia
#1
Juan Ji, Miaofei Xu, Zhenyao Huang, Lei Li, Hongxiang Zheng, Shuping Yang, Shilin Li, Li Jin, Xiufeng Ling, Yankai Xia, Chuncheng Lu, Xinru Wang
Genetic variants of mitochondrial DNA (mtDNA) were implicated to be associated with male infertility. Our previous whole mitochondrial genome sequencing and association study has identified two susceptibility mtDNA variants for oligoasthenospermia in Han Chinese men. In this study, we tested promising associations in an extended validation using 670 idiopathic oligoasthenospermia cases and 793 healthy controls to identify additional risk variants. We found that the genetic variant of m.11696G>A showed significantly higher frequency in the case group than that in the control group (odds ratio (OR) 2...
May 8, 2017: Oncotarget
https://www.readbyqxmd.com/read/28543871/tropical-specialist-versus-climate-generalist-diversification-and-demographic-history-of-sister-species-of-carlia%C3%A2-skinks-from-northwestern-australia
#2
Ana C Afonso Silva, Jason G Bragg, Sally Potter, Carlos Fernandes, Maria Manuela Coelho, Craig Moritz
Species endemic to the tropical regions are expected to be vulnerable to future climate change due in part to their relatively narrow climatic niches. In addition, these species are more likely to have responded strongly to past climatic change, and this can be explored through phylogeographic analyses. To test the hypothesis that tropical specialists are more sensitive to climate change than climate generalists, we generated and analyze sequence data from mtDNA and ~2500 exons to compare scales of historical persistence and population fluctuation in two sister species of Australian rainbow skinks: the tropical specialist Carlia johnstonei and the climate generalist C...
May 24, 2017: Molecular Ecology
https://www.readbyqxmd.com/read/28542345/ancient-mtdna-diversity-reveals-specific-population-development-of-wild-horses-in-switzerland-after-the-last-glacial-maximum
#3
Julia Elsner, Michael Hofreiter, Jörg Schibler, Angela Schlumbaum
On large geographical scales, changes in animal population distribution and abundance are driven by environmental change due to climatic and anthropogenic processes. However, so far, little is known about population dynamics on a regional scale. We have investigated 92 archaeological horse remains from nine sites mainly adjacent to the Swiss Jura Mountains dating from c. 41,000-5,000 years BP. The time frame includes major environmental turning points such as the Last Glacial Maximum (LGM), followed by steppe vegetation, afforestation and initial re-opening of the landscape by human agricultural activities...
2017: PloS One
https://www.readbyqxmd.com/read/28542313/environmental-dna-edna-metabarcoding-assays-to-detect-invasive-invertebrate-species-in-the-great-lakes
#4
Katy E Klymus, Nathaniel T Marshall, Carol A Stepien
Describing and monitoring biodiversity comprise integral parts of ecosystem management. Recent research coupling metabarcoding and environmental DNA (eDNA) demonstrate that these methods can serve as important tools for surveying biodiversity, while significantly decreasing the time, expense and resources spent on traditional survey methods. The literature emphasizes the importance of genetic marker development, as the markers dictate the applicability, sensitivity and resolution ability of an eDNA assay. The present study developed two metabarcoding eDNA assays using the mtDNA 16S RNA gene with Illumina MiSeq platform to detect invertebrate fauna in the Laurentian Great Lakes and surrounding waterways, with a focus for use on invasive bivalve and gastropod species monitoring...
2017: PloS One
https://www.readbyqxmd.com/read/28541756/genetic-diversity-of-mtdna-d-loop-sequences-in-four-native-chinese-chicken-breeds
#5
H W Guo, C Li, X N Wang, Z J Li, G R Sun, G X Li, X J Liu, X T Kang, R L Han
1. To explore the genetic diversity of Chinese indigenous chicken breeds, a 585 bp fragment of the mitochondrial DNA (mtDNA) region was sequenced in 102 birds from the Xichuan Black-bone chicken, Yunyang Black-bone chicken and Lushi chicken. In addition, 30 mtDNA D-loop sequences of Silkie fowls were downloaded from NCBI. The mtDNA D-loop sequence polymorphism and maternal origin of 4 chicken breeds were analysed in this study. 2. The results showed that a total of 33 mutation sites and 28 haplotypes were detected in the 4 chicken breeds...
May 25, 2017: British Poultry Science
https://www.readbyqxmd.com/read/28541553/occurrence-of-15-haplotypes-of-linepithema-micans-hymenoptera-formicidae-in-southern-brazil
#6
Manuela Oliveira Ramalho, C Martins, T Campos, A Nondillo, M Botton, O C Bueno
The ant genus Linepithema is widely known, thanks to the pest species Linepithema humile (Mayr), which is easily mistaken for Linepithema micans (Forel) due to their morphological similarity. Like L. humile, L. micans is associated to the main grapevine pest in Brazil, Eurhizococcus brasiliensis (Wille), also known as ground pearl. Therefore, the present study uses mtDNA fragments to expand the knowledge of haplotype diversity and distribution of L. micans in the state of Rio Grande do Sul (Brazil), to understand the genetic differences of the populations identified in this study...
May 25, 2017: Journal of Economic Entomology
https://www.readbyqxmd.com/read/28540471/genetic-characterization-of-the-honeybee-ectoparasitic-mite-varroa-destructor-from-benin-west-africa-using-mitochondrial-and-microsatellite-markers
#7
Aude E Kelomey, Armand Paraiso, Haziz Sina, Hélène Legout, Lionel Garnery, Lamine Baba-Moussa
Varroa destructor is one of the scourges of global beekeeping. It was detected for the first time in Benin in 2011 on the honeybee Apis mellifera adansonii. The aim of this study was to identify the strain of Varroa sp. found and study its genetic diversity. In total 183 Varroa mites were sampled in 21 municipalities in Benin. The COI intergenic region of each mite mtDNA was amplified by PCR. The SacI restriction enzyme was used to determine the strains of Varroa sp. Only the Korean (K) haplotype, identical to the most prevalent strain in Africa, was detected...
May 24, 2017: Experimental & Applied Acarology
https://www.readbyqxmd.com/read/28538623/impact-of-a-novel-pi3-kinase-inhibitor-in-preventing-mitochondrial-dna-damage-and-damage-associated-molecular-pattern-accumulation-results-from-the-biochronicity-project
#8
George E Black, Kyle K Sokol, Donald M Moe, Jon Simmons, David Muscat, Victor Pastukh, Gina Capley, Olena Gorodnya, Mykhalo Ruchko, Mark B Roth, Mark Gillespie, Matthew J Martin
BACKGROUND: Despite improvements in the management of severely injured patients, development of multiple organ dysfunction syndrome (MODS) remains a morbid complication of traumatic shock. One of the key attributes of MODS is a profound bioenergetics crisis, for which the mediators and mechanisms are poorly understood. We hypothesized that metabolic uncoupling using an experimental PI3-kinase inhibitor, LY294002 (LY), may prevent mitochondrial abnormalities that lead to the generation of mitochondrial DNA (mtDNA) damage and the release of mtDNA damage associated molecular patterns (DAMPs) METHODS: 16 swine were studied using LY294002 (LY), a non-selective PI3-KI: Animals were assigned to Trauma only (TO, N=3); LY drug only (LYO, N=3); and Experimental (N=10), trauma + drug (LY+T) groups...
May 22, 2017: Journal of Trauma and Acute Care Surgery
https://www.readbyqxmd.com/read/28537774/association-of-sperm-mitochondrial-dna-deletions-with-male-infertility-in-an-iranian-population
#9
Elaheh Talebi, Mohammad Karimian, Hossein Nikzad
Disruptions of mitochondrial DNA (mtDNA) may affect male reproductive function. The aim of this study was to investigate the association of three deletions (4977, 7345 and 7599 bp) and two-point mutations (A73G and A3243G) of mitochondrial DNA with male infertility in an Iranian population. In a case-control study, we collected semen samples of 60 infertile men and 60 healthy controls. Detection of the mtDNA deletions and point mutations were performed by long range PCR and PCR-RFLP method, respectively. Our data revealed that 4977 and 7599 bp deletions are associated with male infertility...
May 24, 2017: Mitochondrial DNA. Part A. DNA Mapping, Sequencing, and Analysis
https://www.readbyqxmd.com/read/28536827/genetic-counselling-for-maternally-inherited-mitochondrial-disorders
#10
REVIEW
Joanna Poulton, Josef Finsterer, Patrick Yu-Wai-Man
The aim of this review was to provide an evidence-based approach to frequently asked questions relating to the risk of transmitting a maternally inherited mitochondrial disorder (MID). We do not address disorders linked with disturbed mitochondrial DNA (mtDNA) maintenance, causing mtDNA depletion or multiple mtDNA deletions, as these are autosomally inherited. The review addresses questions regarding prognosis, recurrence risks and the strategies available to prevent disease transmission. The clinical and genetic complexity of maternally inherited MIDs represent a major challenge for patients, their relatives and health professionals...
May 23, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/28536444/the-geography-and-timing-of-genetic-divergence-in-the-lizard-phrynocephalus-theobaldi-on-the-qinghai-tibetan-plateau
#11
Yuanting Jin, Naifa Liu, Richard P Brown
The Qinghai-Tibetan Plateau (QTP) represents one of the earth's most significant physical features and there is increasing interest in the historical generation of biodiversity within this region. We hypothesized that there should be clear geographically coherent genetic structuring within one of the world's highest altitude lizards, Phrynocephalus theobaldi, due to considerable historical population fragmentation in this environment. This was tested using a major mitochondrial DNA (mtDNA) survey and sequencing of two nuclear markers (AME and RAG-1) from P...
May 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28535465/altered-glycometabolism-in-zebrafish-exposed-to-thifluzamide
#12
Yang Yang, Wenxian Liu, Dongzhi Li, Le Qian, Bin Fu, Chengju Wang
Thifluzamide exerts toxic effects to zebrafish and causes liver mitochondrial damage. To better understand the further mechanism, adult zebrafish were exposed to a range of thifluzamide concentrations (0, 0.019, 0.19, and 1.90 mg/L) for 28 days. In response to 1.90 mg/L exposure, liver glycogen significantly increased and blood glucose decreased. The expression of genes related to glycometabolism showed corresponding changes. Genes related to mtDNA replication and transcription and genes participating in mitochondrial complexes showed altered expression, which might lead to the inhibition of the tricarboxylic acid cycle (TCA)...
May 10, 2017: Chemosphere
https://www.readbyqxmd.com/read/28535425/prenatal-ambient-air-pollution-exposure-infant-growth-and-placental-mitochondrial-dna-content-in-the-inma-birth-cohort
#13
Diana B P Clemente, Maribel Casas, Bram G Janssen, Aitana Lertxundi, Loreto Santa-Marina, Carmen Iñiguez, Sabrina Llop, Jordi Sunyer, Mònica Guxens, Tim S Nawrot, Martine Vrijheid
BACKGROUND: The association between prenatal air pollution exposure and postnatal growth has hardly been explored. Mitochondrial DNA (mtDNA), as a marker of oxidative stress, and growth at birth can play an intermediate role in this association. OBJECTIVE: In a subset of the Spanish birth cohort INMA we assessed first whether prenatal nitrogen dioxide (NO2) exposure is associated with infant growth. Secondly, we evaluated whether growth at birth (length and weight) could play a mediating role in this association...
May 20, 2017: Environmental Research
https://www.readbyqxmd.com/read/28533967/divergent-evolutionary-histories-of-dna-markers-in-a-hawaiian-population-of-the-coral-montipora-capitata
#14
Hollie M Putnam, Diane K Adams, Ehud Zelzion, Nicole E Wagner, Huan Qiu, Tali Mass, Paul G Falkowski, Ruth D Gates, Debashish Bhattacharya
We investigated intra- and inter-colony sequence variation in a population of the dominant Hawaiian coral Montipora capitata by analyzing marker gene and genomic data. Ribosomal ITS1 regions showed evidence of a reticulate history among the colonies, suggesting incomplete rDNA repeat homogenization. Analysis of the mitochondrial genome identified a major (M. capitata) and a minor (M. flabellata) haplotype in single polyp-derived sperm bundle DNA with some colonies containing 2-3 different mtDNA haplotypes. In contrast, Pax-C and newly identified single-copy nuclear genes showed either no sequence differences or minor variations in SNP frequencies segregating among the colonies...
2017: PeerJ
https://www.readbyqxmd.com/read/28533084/gene-flow-and-genetic-drift-contribute-to-high-genetic-diversity-with-low-phylogeographical-structure-in-european-hoopoes-upupa-epops
#15
Erjia Wang, Rien E Van Wijk, Markus Santhosh Braun, Michael Wink
The Hoopoe (Upupa epops epops) breeds widely in Eurasia and most populations migrate to Africa during the boreal winter. To date, data regarding its phylogeography in Europe are missing. In this study, we investigated the phylogeography and population genetics of Hoopoes by means of mitochondrial DNA (mtDNA) sequencing as well as microsatellite genotyping. Our analyses revealed 32 haplotypes in the cytochrome c oxidase subunit I (COI) (269 individuals) and 50 haplotypes in cytochrome b (cyt b) (233 individuals)...
May 19, 2017: Molecular Phylogenetics and Evolution
https://www.readbyqxmd.com/read/28527697/antibiotics-induce-mitonuclear-protein-imbalance-but-fail-to-inhibit-respiration-and-nutrient-activation-in-pancreatic-%C3%AE-cells
#16
Jaime Santo-Domingo, Isabelle Chareyron, Charlotte Broenimann, Steve Lassueur, Andreas Wiederkehr
Chloramphenicol and several other antibiotics targeting bacterial ribosomes inhibit mitochondrial protein translation. Inhibition of mitochondrial protein synthesis leads to mitonuclear protein imbalance and reduced respiratory rates as confirmed here in HeLa and PC12 cells. Unexpectedly, respiration in INS-1E insulinoma cells and primary human islets was unaltered in the presence of chloramphenicol. Resting respiratory rates and glucose stimulated acceleration of respiration were also not lowered when a range of antibiotics including, thiamphenicol, streptomycin, gentamycin and doxycycline known to interfere with bacterial protein synthesis were tested...
May 17, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28526948/an-innovative-strategy-to-clone-positive-modifier-genes-of-defects-caused-by-mtdna-mutations-mrps18c-as-suppressor-gene-of-m-3946g-a-mutation-in-mt-nd1-gene
#17
María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Patricia Carnicero-Rodríguez, Francisco Martínez-Azorín
We have developed a new functional complementation approach to clone modifier genes which overexpression is able to suppress the biochemical defects caused by mtDNA mutations (suppressor genes). This strategy consists in transferring human genes into respiratory chain-deficient fibroblasts, followed by a metabolic selection in a highly selective medium. We used a normalized expression cDNA library in an episomal vector (pREP4) to transfect the fibroblasts, and a medium with glutamine and devoid of any carbohydrate source to select metabolically...
May 19, 2017: Human Genetics
https://www.readbyqxmd.com/read/28526288/the-association-between-mid-facial-morphology-and-climate-in-northeast-europe-differs-from-that-in-north-asia-implications-for-understanding-the-morphology-of-late-pleistocene-homo-sapiens
#18
Andrej A Evteev, Alla A Movsesian, Alexandra N Grosheva
The climate of northeastern Europe is likely to resemble in many ways Late Pleistocene periglacial conditions in Europe, but there have been relatively few studies exploring the association between climate and morphology in the mid-face of modern northeastern European populations. To fill this gap, we sampled 540 male skulls from 22 European and Near Eastern groups, including 314 skulls from 11 populations from northeastern Europe, to test for possible climate-morphology association at the continental scale...
June 2017: Journal of Human Evolution
https://www.readbyqxmd.com/read/28525980/the-distribution-of-mitochondrial-dna-haplogroup-h-in-southern-iberia-indicates-ancient-human-genetic-exchanges-along-the-western-edge-of-the-mediterranean
#19
Candela L Hernández, Jean M Dugoujon, Andrea Novelletto, Juan N Rodríguez, Pedro Cuesta, Rosario Calderón
BACKGROUND: The structure of haplogroup H reveals significant differences between the western and eastern edges of the Mediterranean, as well as between the northern and southern regions. Human populations along the westernmost Mediterranean coasts, which were settled by individuals from two continents separated by a relatively narrow body of water, show the highest frequencies of mitochondrial haplogroup H. These characteristics permit the analysis of ancient migrations between both shores, which may have occurred via primitive sea crafts and early seafaring...
May 19, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28525660/polymorphism-of-mitochondrial-dna-in-the-brazilian-canind%C3%A3-goat-breed
#20
N M V Silva, E C Pimenta Filho, J K G Arandas, M A Gomes Filho, E Ferreira, I Del Cerro, C Fonseca, M N Ribeiro
The success of the geographical distribution of goat populations around the world is a consequence of the adaptive potential of these breeds. Several relevant traits to the success of the species in colonizing different ecosystems (and use by man) evolved before domestication. These features were relevant for the selection of different breeds. Each breed represents a genetic heritage that may be unique and essential for maintaining the species. The objective of this study was to catalog the mtDNA haplotypes of the Brazilian autochthonous Canindé goat breed and to characterize the genetic diversity observed in subpopulations by sequencing a 481-bp fragment corresponding to the first portion of the control region in 178 individuals from 10 herds, sampled in six Brazilian states...
May 18, 2017: Genetics and Molecular Research: GMR
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