• A rapid diagnostic 'mulitplex' one-step polymerase chain reaction protocol (RD-PCR) was developed using cytochrome oxidase subunit 1 (COX1) mitochondrial DNA (mtDNA) to discriminate between S. haematobium and S. bovis. (imperial.ac.uk)
  • Penelitian mengenai analisa kekerabatan antar individu owa Jawa menggunakan DNA mitokondria (mtDNA) pada gen Cytochrome C Oxidase subunit 1 (COI) perlu dilakukan demi mendukung upaya pelestariannya. (ub.ac.id)
  • Hasil penelitian menunjukkan bahwa kekerabatan owa Jawa yang berada di Javan Primate Rehabilitation Center (JPRC) Jawa Barat berhasil dideskripsikan berdasarkan Gen COI (Cytochrome C oxidase subunit 1) secara intraspesies maupun interspesies. (ub.ac.id)
  • Research on kinship analysis between Javan gibbon individuals using mitochondrial DNA (mtDNA) on the Cytochrome C Oxidase subunit 1 (COI) gene needs to be done to support its conservation efforts. (ub.ac.id)
  • The results showed that the kinship of Javanese gibbons in the Javan Primate Rehabilitation Center (JPRC) of West Java was successfully described based on the COI gene (Cytochrome C oxidase subunit 1) both intraspecifically and interspecies. (ub.ac.id)
  • Mitochondrial cytochrome c-oxidase subunit 2 (mtDNA cox-2), 28S rRNA and ITS1, 5.8S and ITS2 regions were amplified using the polymerase chain reaction and sequenced to evaluate the phylogenetic relationships of the larva. (fiocruz.br)
  • In the present study, we analysed 158 specimens , representing seven species out of ten described in the genus, from widely distributed sites throughout the western Palaearctic region, using nuclear markers (28S rRNA, wingless, Internal Transcribed Spacer 2 and Elongation Factor 1α) and the barcoding region of the mitochondrial cytochrome c oxidase subunit 1 gene to investigate if the current taxonomic entities match the phylogenetic pattern. (biomedcentral.com)
  • This study employed PCR-RFLP method using a mitochondrial (cytochrome C oxidase subunit I, COI) marker and a nuclear (rhodopsin, rho) marker to differentiate hybrids from the parental species. (tailieu.tv)
  • Nghiên cứu này sử dụng phương pháp PCR-RFLP đối với gien ti thể (Cytochrome C oxidase subunit I, COI) và gien trong nhân (Rhodopsin, rho) để phân biệt con lai với hai loài bố mẹ. (tailieu.tv)
  • Mitochondrial DNA (mtDNA) mutations frequently manifest with multisystem disease, including cardiomyopathy (CM). Various studies described mutations in protein-encoding mtDNA genes, such as cytochrome-b, manifesting with CM. A detailed clinical, biochemical, and molecular genetic analysis was performed in a 40-year-old male with dilated CM (DCM) to detect the underlying mtDNA defect. (journalmc.org)
  • Bc1 is one of these complexes and composed of three catalytic subunits (cytochrome-b, cytochrome-c1, and the Rieske iron-sulfur protein) and seven or eight non-catalytic subunits [ 6 ]. (journalmc.org)
  • The main focus of this research is to determine the molecular phylogeny and characterization of Mundri Sheep ( Ovis aries ) through sequencing of mitochondrial Cytochrome b and Cytochrome Oxidase Subunit I (COI). (veterinarska-stanica-journal.hr)
  • DNA was isolated and subjected to Polymerase Chain Reaction (PCR) for amplification of Cytochrome b and COI genes using appropriate primers. (veterinarska-stanica-journal.hr)
  • We used 19 microsatellite loci and the cytochrome oxidase subunit I (COI) gene to assess population connectivity and genetic diversity of the Pristine Crayfish. (researchsquare.com)
  • Although the mechanism is unknown, mutations in the POLG gene often result in a reduced number of copies of mtDNA (mtDNA depletion), particularly in muscle, brain, and liver cells. (medlineplus.gov)
  • None of the mutations were considered pathogenic, indicating that mtDNA somatic mutations do not likely contribute to the initiation or progression of these diverse mouse brain tumors. (biomedcentral.com)
  • Few studies have evaluated mtDNA mutations in brain cancer. (biomedcentral.com)
  • found that the majority of mtDNA somatic mutations in medulloblastomas existed in regions of mononucleotide repeats, rather than in genes encoding proteins for the respiratory chain complexes [ 35 ]. (biomedcentral.com)
  • It is not yet clear if mtDNA mutations contribute to brain tumor progression. (biomedcentral.com)
  • In addition to the vast array of mutations found within the maternally inherited mitochondrial DNA (mtDNA), there is an increasing recognition of the mitochondrial disorders arising from mutations within the nuclear genome and following Mendelian genetic inheritance patterns. (essayempire.com)
  • For example, the mutations responsible for a number of autosomal recessive conditions have been found, including myo-neuro-gastrointestinal encephalomyopathy (MNGIE, thymidine phosphorylase), complex I (NDUF) and IV (SURF-1) Leigh's disease, mtDNA depletion (dGuOK, TK) and some forms of mtDNA deletion syndromes (polymerase gamma, twinkle, ANT). (essayempire.com)
  • Several studies have described many mutations in mitochondrial genes encoding for subunits of respiratory chain complexes. (istanbul.edu.tr)
  • To analyse mitochondrial deoxyribo nucleic acid mutations, the entire mitochondrial deoxyribo nucleic acid was amplified in two overlapping polymerase chain reaction fragments from the cardiac tissue of the 22 patients with congenital heart disease, undergoing cardiac surgery. (istanbul.edu.tr)
  • A number of CMs were attributed to abnormal respiratory chain functions, particularly those caused by mitochondrial DNA (mtDNA) mutations [ 2 - 4 ]. (journalmc.org)
  • Therefore, it is of interest how the number of copies of mtDNA is regulated, how homoplasmy is maintained in normal individuals, and how quickly mutations spread through the mtDNA population to give rise to the mutant phenotype [ 13 - 15 ]. (biomedcentral.com)
  • Several types of mtDNA point mutations and deletions have been identified in the affected tissues of patients with overt mitochondrial diseases (10-15). (ijfs.ir)
  • Therefore, the identification of mtDNA mutations in the pathophysiology of human spermatozoa dysfunction is considered to be important better understanding the etiology of idiopathic infertility in men. (ijfs.ir)
  • Mitochondrial DNA (mtDNA) carrying certain pathogenic mutations or single nucleotide variants (SNVs) enhances the invasion and metastasis of tumor cells, and some of these mutations are homoplasmic in tumor cells and even in tumor tissues. (biomedcentral.com)
  • We and others previously showed that certain mitochondrial DNA (mtDNA) somatic mutations or single nucleotide variants (SNVs) enhanced the invasion and metastasis of mouse and human cell lines, e.g. (biomedcentral.com)
  • Furthermore, the frequency of predicted pathogenic mtDNA mutations was significantly correlated with distant metastasis in patients with non-small cell lung carcinoma (NSCLC) and colon cancers [ 2 ]. (biomedcentral.com)
  • More than 200 point mutations in mitochondrial DNA (mtDNA) have been reported in the mtDNA mutation database MITOMAP. (biomedcentral.com)
  • As controls, 200 individuals negative for GJB2 , SLC26A4 , and mtDNA 12S rRNA mutations were recruited, including 100 individuals with normal hearing (Group 1) and 100 patients with sensorineural hearing loss (Group 2). (biomedcentral.com)
  • This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol γ). (medlineplus.gov)
  • To confirm the taxonomic status of the worms, polymerase chain reaction (PCR) was conducted, followed by restriction fragment length polymorphism (RFLP) analysis and direct sequencing of a portion of the NADH dehydrogenase subunit I (ND1) gene of the mtDNA. (cdc.gov)
  • We identified a candidate mutation presumably associated with resistance to the virus, namely the T321I mutation in the UL15 gene encoding the large terminase subunit. (bvsalud.org)
  • RESULTS: We expressed the gene encoding Enterococcus faecium phage IME199 DNA polymerase (IME199 DNAP) in Escherichia coli BL21(DE3), and characterized protein function. (bvsalud.org)
  • mean age at assessment 11y, range 1-25y) through gene panels (n=11), whole-exome sequencing (n=13), and mitochondrial DNA (mtDNA) sequencing (n=6). (biomed.news)
  • IMT1 severely impairs mtDNA gene expression in A2780 cells that express wild-type POLRMT. (cancer-research-network.com)
  • The accuracy of mitochondrial DNA (mtDNA) replication depends on the coordinated action of many nuclear-encoded proteins and on the correct balance of nucleotides within the mitochondrial matrix. (novusbio.com)
  • Pol γ "reads" sequences of mtDNA and uses them as templates to produce new copies of mtDNA in a process called DNA replication . (medlineplus.gov)
  • They described the DNA replication process by which DNA polymerase copies the base sequence of a template DNA strand. (wikipedia.org)
  • DNA polymerase II was discovered by Thomas Kornberg (the son of Arthur Kornberg) and Malcolm E. Gefter in 1970 while further elucidating the role of Pol I in E. coli DNA replication. (wikipedia.org)
  • Following base excision, the polymerase can re-insert the correct base and replication can continue forwards. (wikipedia.org)
  • Therefore, correct transcription, replication and maintenance of the mtDNA are essential for cell viability . (csic.es)
  • Proteins involved in mtDNA replication. (csic.es)
  • The most stringent authentication criteria proposed for ancient DNA, such as independent replication, amino-acid analysis, quantitation of template molecules, multiple extractions and cloning of PCR products, have been followed to obtain reliable sequences from the mtDNA hypervariable region 1 (HVR1), as well as some haplogroup diagnostic SNPs. (blogspot.com)
  • a transcript generated from one of the promoters also primes mitochondrial DNA (mtDNA) replication. (biomedcentral.com)
  • Mitochondrial DNA (mtDNA) is essential for the production of subunits for the electron transport chain, since it encodes peptides for Complex I, III, IV, and V. The mitochondrial genome consists of a 16.5 kb piece of circular DNA encoding 37 genes on the L and H strands. (biomedcentral.com)
  • The top 14 hub genes were subsequently confirmed by reverse transcription‑quantitative polymerase chain reaction in ACC and adrenocortical adenoma samples. (cancerindex.org)
  • Mitochondria provide cellular energy through its oxidative phosphorylation system, which needs to coordinate the expression of genes encoded by nuclear and mitochondrial genomes (mtDNA). (cancer-research-network.com)
  • As regiões da subunidade 2 da citocromo c-oxidase mitocondrial (mtDNA cox-2), 28S rRNA e ITS1, 5.8S e ITS2 foram amplificadas usando a reação em cadeia da polimerase e sequenciadas para avaliar as relações filogenéticas da larva. (fiocruz.br)
  • The mitochondrial 12S rRNA A1555G mutation is the most prevalent deafness-causing mitochondrial DNA (mtDNA) mutation and is inherited maternally. (biomedcentral.com)
  • Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. (medlineplus.gov)
  • A unique feature of mitochondria is that they possess their own genome, the mitochondrial DNA (mtDNA), which codes for subunits of the electron transport chain that eventually leads to the synthesis of the ATP molecule. (csic.es)
  • Twinkle and mtSSB were, in addition of being observed in mitochondria, found in the RNE granules that lay close to the mtDNA (Hensen et al. (csic.es)
  • When MitoTracker Deep Red-labeled high-metastatic Lewis lung carcinoma A11 cells carrying the ND6 G13997A mtDNA mutation were cocultured with CellLight mitochondria-GFP-labeled low-metastatic P29 cells harboring wild-type mtDNA, bidirectional transfer of red- and green-colored vesicles, probably mitochondria-related EVs, was observed in a time-dependent manner. (biomedcentral.com)
  • Mitochondria have their own maternally inherited circular DNA (mtDNA), which is approximately 16,569 bp in size. (genominfo.org)
  • This higher mutation rate may be due in part to a lack of protective histones, reduced fidelity of polymerase γ, or to the localization of the mitochondrial genome to the inner mitochondrial membrane near damaging reactive oxygen species [ 5 - 9 ]. (biomedcentral.com)
  • Mutation rates of mtDNA are generally 10- 100 times higher than those of nDNA (6) because mtDNA is compact (intron-less) and lacks an efficient DNA repair mechanism. (ijfs.ir)
  • The 4977 bp deletion has been established to be the most common mtDNA mutation in affected tissues of about 40% of patients with mitochondrial myopathy (17, 18). (ijfs.ir)
  • In this study, we investigated whether mtDNA with the NADH dehydrogenase subunit 6 ( ND6 ) G13997A pathogenic mutation in highly metastatic cells can be horizontally transferred to low-metastatic cells and stromal cells in the tumor microenvironment. (biomedcentral.com)
  • Based on detailed mtDNA analyses of the family members using next-generation sequencing with 1% sensitivity to mutated mtDNA, the level of heteroplasmy in terms of the A1555G mutation in blood DNA samples was quantified. (biomedcentral.com)
  • The A1555G mutation is located in the aminoacyl-tRNA acceptor site of the small ribosomal subunit, which is highly conserved from bacteria to mammals [ 6 ]. (biomedcentral.com)
  • BACKGROUND: Identification and characterization of novel, faithful and processive DNA polymerases is a driving force in the development of DNA amplification methods. (bvsalud.org)
  • Based on the characterized properties, IME199 DNAP is expected to be developed as a high-fidelity polymerase for DNA amplification at room temperature. (bvsalud.org)
  • There is a dose-dependent decrease in the levels of subunits (NDUFB8, UQCRC2, and COXI) of respiratory chain complexes I, III, and IV. (cancer-research-network.com)
  • Human mtDNA is a 16569 base pair double-stranded circular DNA molecule that codes 13 polypeptide subunits of respiratory chain complexes, along with the 22 tRNAs and 2 rRNAs (12S and 16S) (5). (ijfs.ir)
  • DNA polymerase adds nucleotides to the three prime (3')-end of a DNA strand, one nucleotide at a time. (wikipedia.org)
  • citation needed] When synthesizing new DNA, DNA polymerase can add free nucleotides only to the 3' end of the newly forming strand. (wikipedia.org)
  • For example, A to G transitions in nucleotides 3243 and 8344 in mtDNA underlie mitochondrial encephalopathy with lactic acidosis and stroke-like episodes (MELAS) and myoclonic epilepsy with ragged red fibres (MERFF), respectively. (biomedcentral.com)
  • MIM 174763) and a 55-kD accessory subunit (POLG2). (novusbio.com)
  • In humans, the mtDNA is a circular molecule of 16.5kbp that codes for 13 essential subunits (out of approximately 80) of complexes I, III, IV and V of the oxidative phosphorylation pathway (OXPHOS), as well as for two rRNAs and 22tRNAs. (csic.es)
  • The remaining OXPHOS subunits are imported from the cytosol. (csic.es)
  • POLRMT is essential for mtDNA transcription and biogenesis of the oxidative phosphorylation (OXPHOS) system. (cancer-research-network.com)
  • Furthermore, mtDNA is attached, at least transiently to the mitochondrial inner membrane where ROS (reactive oxygen species) are generated as byproducts of OXPHOS in the ETC (8, 9). (ijfs.ir)
  • MtDNA depletion causes a decrease in cellular energy, which could account for the signs and symptoms of Alpers-Huttenlocher syndrome. (medlineplus.gov)
  • Particularly, IMT1 causes a dose-dependent decrease in the levels of mitochondrial transcripts and gradual depletion of mtDNA in HeLa cells. (cancer-research-network.com)
  • This process is accomplished by the respiratory chain and ATP synthesis, which comprise a series of protein complexes that are encoded by both nuclear and mitochondrial genomes (nDNA and mtDNA respectively) (2, 4). (ijfs.ir)
  • To investigate the level of correlation between large-scale deletions of the mitochondrial DNA (mtDNA) with defective sperm function. (ijfs.ir)
  • After total DNA extraction, a long-range polymerase chain reaction (PCR) technique was used to determine the mtDNA deletions in human spermatozoa. (ijfs.ir)
  • However, the frequency of mtDNA deletions in abnormal motility group was significantly higher than the normal motility group (56, and 24% for 4866 bp-deleted mtDNA and, 52, and 28% for 4977 bp-deleted mtDNA, respectively). (ijfs.ir)
  • It is suggested that large-scale deletions of the mtDNA is associated with poor sperm motility and may be a causative factor in the decline of fertility in men. (ijfs.ir)
  • Large-scale deletions of mtDNA were first observed in the skeletal muscle of patients with mitochondrial myopathy (16). (ijfs.ir)
  • The accumulation of mtDNA with the common 4977 bp and 7436 bp large-scale deletions are well recognized to be associated with aging in various human tissues (19, 20). (ijfs.ir)
  • Several studies have also demonstrated that multiple mtDNA deletions are associated with defective sperm function and diminish fertility in men (14, 21-25). (ijfs.ir)
  • However, low levels of mtDNA deletions have been identified in human spermatozoa and studies have not found a clear relationship between large-scale mtDNA deletions and male infertility. (ijfs.ir)
  • Other studies of the mitochondrial genome focused on mtDNA copy number in brain tumors [ 34 ]. (biomedcentral.com)
  • Three clusters were identified: the pallidal, neostriatal, and striatal, plus the last including mtDNA defects in the oxidative phosphorylation system with prominent brain atrophy. (biomed.news)
  • Not only did curcumin treatment increase mitochondrial DNA (mtDNA) copy number in hepatocytes, but it also increased levels of transcriptional factors that regulate mitochondrial biogenesis, including peroxisome proliferator-activated receptor-γ coactivator 1α (PGC1α), nuclear respiratory factor 1 (NRF1) and mitochondrial transcription factor A (Tfam). (spandidos-publications.com)
  • Complicating this picture is that there are 2 sources of genetic material-maternal inherited mtDNA and nuclear DNA. (medlink.com)
  • It remains unclear whether metastasis-enhancing pathogenic mutant mtDNA in tumor cells is intercellularly transferred between tumor cells and stromal cells. (biomedcentral.com)
  • These results suggest that metastasis-enhancing pathogenic mtDNA derived from metastatic tumor cells is transferred to low-metastatic tumor cells and stromal cells via S-EVs in vitro and in the tumor microenvironment, inferring a novel mechanism of enhancement of metastatic potential during tumor progression. (biomedcentral.com)
  • Specifically, the transcription of mtDNA in circular mammals depends on a single mitochondrial RNA polymerase ( POLRMT ). (cancer-research-network.com)
  • Combined whole-exome and mtDNA sequencing allowed the identification of several genetic conditions affecting basal ganglia metabolism. (biomed.news)
  • A number of genetic studies have been performed using the mtDNA haplogroup for athlete status and physical performances. (genominfo.org)
  • A notable example is the replacement of an original multi-subunit bacteria-like RNA polymerase (inherited from the proto-mitochondrial ancestor and still encoded in certain jakobid - but no other - mitochondrial genomes) by a single-subunit bacteriophage T3/T7-like RNA polymerase, which directs mitochondrial transcription in virtually all eukaryotes [ 24 ]. (biomedcentral.com)
  • The mtDNA transcription initiation complex is formed by mitochondrial transcription factor A (TFAM) binding to one of the two mtDNA transcription promoters, HSP1 or LSP. (csic.es)
  • We have retrieved mitochondrial DNA (mtDNA) from a few of the scarce skeletal remains that have been preserved, some of them belonging to ritualistically executed individuals. (blogspot.com)
  • Since DNA polymerase requires a free 3' OH group for initiation of synthesis, it can synthesize in only one direction by extending the 3' end of the preexisting nucleotide chain. (wikipedia.org)
  • Many DNA polymerases contain an exonuclease domain, which acts in detecting base pair mismatches and further performs in the removal of the incorrect nucleotide to be replaced by the correct one. (wikipedia.org)
  • The products of PCR analysis showed a common 4977 bp deletion and a novel 4866 bp deletion (flanked by a seven-nucleotide direct repeat of 5΄-ACCCCCT-3΄ within the deleted area) from the mtDNA of spermatozoa in both groups. (ijfs.ir)
  • The absence of mtDNA haplogroup V, common today in Iberia, is confirmed. (blogspot.com)
  • citation needed] The function of DNA polymerase is not quite perfect, with the enzyme making about one mistake for every billion base pairs copied. (wikipedia.org)
  • F 1 F 0 -ATP synthase is a large enzyme complex made up of over 22 subunits. (biomedcentral.com)
  • Initial studies used familial studies to report on associations between mtDNA and exercise phenotype [ 23 , 24 ]. (genominfo.org)
  • Unlike normal individuals in whom most mtDNA copies are genotypically similar (homoplasmic), most patients suffering from mtDNA disorders have dissimilar copies (heteroplasmic). (biomedcentral.com)
  • Every time a cell divides, DNA polymerases are required to duplicate the cell's DNA, so that a copy of the original DNA molecule can be passed to each daughter cell. (wikipedia.org)
  • At these promoters, TFAM recruits the RNA polymerase (mtRNAP). (csic.es)
  • The U-turn was also found in the complex of S. cerevisiae mtDNA compacting protein Abf2p (Chakraborty et al. (csic.es)
  • Diagnostic polymerase chain reaction (PCR) restriction fragment length polymorphism analysis for Echinococcus multilocularis (lanes 1-8, 2 specimens in parallel) and E. granulosus (lanes 9-12, 1 specimen). (cdc.gov)
  • A single forward primer and two species-specific reverse primers were used to produce a polymerase chain reaction (PCR) fragment of 306 bp and 543 bp for S. bovis and S. haematobium, respectively. (imperial.ac.uk)
  • The 10 markers were successfully amplified in two sets of multiplex polymerase chain reactions (PCR). (researchgate.net)
  • The tumor mtDNA was compared to that of mtDNA in brain mitochondrial populations from the corresponding syngeneic mouse host strain. (biomedcentral.com)
  • During this process, DNA polymerase "reads" the existing DNA strands to create two new strands that match the existing ones. (wikipedia.org)
  • Recent studies have suggested that polymorphisms of mtDNA are associated with athlete status and/or physical performance in various populations. (genominfo.org)
  • Several studies have been conducted in various populations to identify the role of population-specific mtDNA haplogroups on the expression of phenotypes including diseases and longevity [ 11 , 18 , 19 ]. (genominfo.org)