Mtdna gene rearrangement. Medical search. Frequent questions

In view to find putative mitochondrial genes in alternative reading frames on both coding and "presupposed" non-coding strands, numerous complete mtDNA genomes have been analyzed. (biomedcentral.com)
In addition, these findings provide further support for models in which conflicts between different genes in genomes can drive the process of speciation. (elifesciences.org)
Fish genomes include 21 to 100+chromosomes in the nuclear genome (nDNA) with two copies of every gene in most (diploid) species. (brainkart.com)
Genomes are dynamic with many rearrangements between species and sometimes within species. (brainkart.com)
3] SHAO R,AOKI Y,MITANI H,et al.The mitochondrial genomes of soft ticks have an arrangement of genes that has remained unchanged for over 400 million years[J]. Insect Molecular Biology ,2004,13(3):219-224. (chvm.net)
Based on mitotype-specific markers and mitotype-variant ORFs, four main cytoplasmic haplotypes were identified in our groups corresponding the nap , pol , ole , and cam mitotypes, among which the structure of chloroplast genomes was more conserved without any rearrangement than mitochondrial genomes. (biomedcentral.com)

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive multisystem disorder associated with depletion, multiple deletions and site-specific point mutations of mitochondrial DNA (mtDNA). (nih.gov)
Three new likely pathogenic mutations were identified in the TWNK and MT-TN genes. (bmj.com)
A number of maternally inherited mitochondrial diseases with distinct clinical phenotypes have been associated with point mutations in mtDNA, all of which result in neurologic or neuromuscular disorders. (celljournal.org)
Several studies showed that mutations in the tRNA genes of mtDNA could cause mitochondrial disease due to the decreased synthesis of mitochondrial DNA coded proteins. (celljournal.org)
A patient having clinical, biochemical, and histochemical abnormalities compatible with mitochondrial disease but without rearrangements in her mtDNA, was subjected to study for point mutations in the mitochondrial tRNA genes. (celljournal.org)
Mutations in at least three mitochondrial genes can cause cytochrome c oxidase deficiency, which is a condition that can affect several parts of the body, including the muscles used for movement (skeletal muscles), the heart, the brain, or the liver. (medlineplus.gov)
The mtDNA mutations that cause this condition alter the proteins that make up cytochrome c oxidase. (medlineplus.gov)
2014). Homozygous or compound-heterozygous mutations in the Parkin gene result in highly penetrant symptom expression, while heterozygous mutations have been predicted to predispose to disease symptoms with highly reduced penetrance (Huttenlocher et al. (unitn.it)
Ohno (1970) proposed that gene duplication is essential for major evolutionary innovations in vertebrates, as opposed to the single nucleotide mutations that can distinguish populations and species. (brainkart.com)

We have now identified five major forms of mtDNA deletions in the skeletal muscle of MNGIE patients. (nih.gov)
While direct repeats and imperfectly homologous sequences appear to mediate the formation of mtDNA deletions, the nicotinamide adenine dinucleotide dehydrogenase 5 gene is a hot-spot for these rearrangements. (nih.gov)
A novel aspect of the mtDNA deletions in MNGIE is the presence of microdeletions at the imperfectly homologous breakpoints. (nih.gov)
If no mtDNA deletions are identified, whole mtDNA sequencing should be performed. (bmj.com)
Kearns Sayre Syndrome (OMIM #530000) occurs as a result of large-scale single deletions (or rearrangements) of mitochondrial DNA (mtDNA), which are usually not inherited but occur spontaneously, probably at the germ-cell level or very early in embryonic development. (medscape.com)

Indeed, in the whole mtDNA of all ticks, the Tick-Box is always present downstream of nad1 and rrnL, mainly in non-coding regions (NCRs) and occasionally within trnL(CUN). (unipv.it)

Levels of the mutant mtDNA in muscle and white blood cells were quantified and showed 73% and 30% heteroplasmy in the investigated tissues, respectively. (celljournal.org)
however, a stable, replicative mutant mtDNA is sometimes produced. (medscape.com)

We sequenced the complete mt genome of W. compar and conducted phylogenetic analyses using concatenated coding sequences of 12 protein-coding genes (PCGs) by maximum likelihood and Bayesian inference. (nature.com)
We aimed to evaluate quantitative real-time PCR (qPCR) targeting three protein-coding genes of Histoplasma capsulatum (100-kDa, H and M antigens) for detection of this fungus in formalin-fixed paraffin-embedded (FFPE) samples from patients with proven histoplasmosis. (cdc.gov)

The complete mt genome is 14,373 bp in size and comprises 36 genes, including 12 protein-coding, two rRNA and 22 tRNA genes. (nature.com)
Instead of employing a whole-genome or exome strategy, they performed deep resequencing of carefully-chosen candidate genes in pools of ~20 samples. (massgenomics.org)
These subcellular organelles contain a genome that differs from the nuclear genome and is referred to as mitochondrial DNA (mtDNA). (biomedcentral.com)
in one study, 31 genes in breast CAFs, which were identified using Affymetrix Human Genome U133 Plus 2.0 and an empirical Bayesian model, were different from those in NFs ( 11 ). (spandidos-publications.com)
According to the tRNA punctuation model, the mitochondrial genome (mtDNA) of mammals and arthropods is transcribed as large polycistronic precursors that are maturated by endonucleolytic cleavage at tRNA borders and RNA polyadenylation. (unipv.it)
A deletion anywhere in the mitochondrial genome may affect transcription or translation of genes that were not affected by the deletion. (medscape.com)
The pufferfish (genus Fugu ) provided an ideal candidate for the first fish genome study, having much the same set of genes observed in mammals, but in a package eight times smaller than the human genome. (brainkart.com)
Segments of the genome that are similar between fishes and mammals are rarely longer than four genes. (brainkart.com)
Previous estimates of the vertebrate genome ranged from 60,000 to 150,000 genes, but that number now appears to be 30,000-40,000 genes. (brainkart.com)

In addition, mitochondrial DNA (mtDNA) encodes 2 ribosomal RNA genes and 22 transfer RNA (tRNA) genes necessary for the intramitochondrial synthesis of these 13 polypeptides. (medscape.com)

High-resolution melting curve (HRM) analysis of the mitochondrial 12S ribosomal RNA gene was performed to determine the maternal species. (bvsalud.org)
Typical triploblastic animal mtDNAs contain genes that encode the large and small subunit ribosomal RNAs, 22 transfer RNAs (tRNAs), and 13 proteins that are all components of the oxidative phosphorylation process: ATPase subunits 6 and 8 (ATP6 and 8), cytochrome b (Cyt b), cytochrome c oxidase subunits 1-3 (Cox1-3) and NADH dehydrogenase subunits 1-6 and 4L (ND1-6 and 4L). (biomedcentral.com)
Unlike microbial studies, where analysis of the 16S ribosomal DNA sequence is standard, the best gene for metazoan metagenetics is less clear. (lookformedical.com)
The remaining genes provide instructions for making molecules called transfer RNA (tRNA) and ribosomal RNA (rRNA), which are chemical cousins of DNA. (medlineplus.gov)

We find that chromosomal rearrangements and related recombination defects are major but not sole causes of hybrid infertility. (elifesciences.org)
Chromosomal speciation models suggest that chromosomal rearrangements such as inversions promote reproductive isolation between diversifying populations, potentially leading to speciation. (palaeogenetics.com)
For my MSc project I tested the hypothesis that chromosomal rearrangements on the sex chromosome of the collared and the pied flycatcher have acted as reproductive barriers between the two species. (palaeogenetics.com)

Now, a variety of genes that cause mitochondrial disease have been discovered. (medlink.com)

An empirical comparison of phylogenetic methods on chloroplast gene order data in Campanulaceae. (uniba.sk)
The candidates included 103 genes that (i) encoded known complex I proteins, (ii) were implicated in the disease, or (iii) were identified by phylogenetic profiling. (massgenomics.org)
Phylogenetic analyses based on DNA sequences of the mitochondrial 16S rRNA and COI genes supported the new species as an independent lineage. (bvsalud.org)

The uncorrected genetic distances between the 16S rRNA and COI genes in the new species and its closest congener were 0.7% and 2.6%, respectively, which are higher than or at the same level as those among many pairs of congeners. (bvsalud.org)

The prostaglandin-endoperoxide synthase 2 gene (PTGS2), which encodes cyclooxygenase-2, was found to upregulate the expression of TGF-β2 ( 14 ). (spandidos-publications.com)

The proposed mechanism is based on the knowledge that transcription of mtDNA is polycistronic, which means that all genes encoded on the heavy and light strands are transcribed as 2 large precursor RNA strands. (medscape.com)

The mitochondrial genes are arranged compactly and generally have no introns and few intergenic nucleotides. (biomedcentral.com)

A new mutation in mtDNA involving tRNASer(UCN) was identified in this patinet with muscle weekness and cardiomyopathy. (celljournal.org)
Analysis of mtDNA from blood cells and muscle showed that the mutation was present in both tissues. (celljournal.org)
A New Point Mutation In MtDNA TRNA Ser (UCN) Gene In A Cardiomyopathic Patient', Cell Journal (Yakhteh) , 1(1), pp. 19-26. (celljournal.org)
Genetic alterations include genetic mutation, gene copy number variation (CNV), loss of heterozygosity (LOH), allelic imbalance (AI) and microsatellite instability (MSI). (spandidos-publications.com)
Located within the mitochondrial matrix, and lacking the efficient repair mechanisms available to nuclear DNA, mtDNA has a relatively high rate of mutation. (medscape.com)
Moreover, in a subset of individuals, I have identified an altered molecular phenotype, characterized by disparities at the level of mtDNA integrity and mitochondrial function in blood and two different cellular models derived from the mutation carriers. (unitn.it)

In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)

Diagnosis is usually verified by Southern blot evaluation that detects mtDNA rearrangements. (healthandwellnesssource.org)

Auditor, D. The classic example of this phenomenon is fusion of the BCR gene on chromosome 22 with 1 Routine to solve the word search puzzle. (binary-options-guide.com)
The Aryan exodus forms the crux of various migratory theories along with analysis of ancient DNA and Y-chromosome which are indicative of external infusion into the Indian gene pool. (srjhs.org)

Thirteen of these genes provide instructions for making enzymes involved in oxidative phosphorylation. (medlineplus.gov)
Under salt stress conditions, Arabidopsis lines expressing VuWRKY21 or VuWRKY87 showed elevated expression of genes participating in saline stress response pathways and reduced oxidative stress induced by reactive oxygen species (ROS). (mdpi.com)

The 145 kb target space comprised 653 exons from nuclear genes (138 kb) and two mtDNA regions (7 kb). (massgenomics.org)

In some mtDNAs (e.g., nematodes and annelids), all genes are transcribed in the same direction, whereas, in others, both strands encode genes. (biomedcentral.com)

In 1999 it was reported that paternal sperm mitochondria (containing mtDNA) are marked with ubiquitin to select them for later destruction inside the embryo (Sutovsky et. (dadamo.com)

The mitochondrial gene content is highly variable across eukaryotes. (biomedcentral.com)
The vast majority of genes in eukaryotes are located within chromosomal structures in the nucleus of the cell. (nature.com)

Despite a disparity in gene content, all mtDNAs encode at least two components of the mitochondrial electron transport chain, including cytochrome c oxidase I (Cox1). (biomedcentral.com)
The mitochondrial genes associated with cytochrome c oxidase deficiency provide instructions for making proteins that are part of a large enzyme group (complex) called cytochrome c oxidase (also known as complex IV). (medlineplus.gov)

Cancer cells try to avoid the overproduction of reactive oxygen species by metabolic rearrangements. (hindawi.com)

By contrast, the 10 downregulated genes were primarily associated with epithelial membrane proteins ( 11 ). (spandidos-publications.com)

Thereafter, the DNA sequences of five nuclear genes (SIAH, TYR, POMC, RAG1, and C-MYC) were analyzed to determine their parental species and hybrid status. (bvsalud.org)

It is also estimated that each human being is a carrier of around five recessive lethal genes and perhaps even more recessive disease genes, which may pose risk for the offspring of related individuals (such as cousin marriages). (dorak.info)
Autosomal recessive - Two copies of a faulty gene have been inherited (usually one from the mother and one from the father) and caused a disease or trait. (mitochondrialdisease.nhs.uk)

rate is easily measured, mtDNA is a powerful tool for tracking matrilineage, and has been used in this role for tracking many species back hundreds of generations. (dadamo.com)
I extract and analyse plant DNA to retrieve information about the diet along with mtDNA to identify from which species each faecal sample derives from. (palaeogenetics.com)
One of these works was performed by James Patton's group (UC Berkeley) using sympatric species of Proechimys and mitochondrial DNA (mtDNA) to test how gene flow occurs between river banks in the Amazon (Matocq et al. (journalofbiogeographynews.org)

De novo sequencing,assembly and analysis of salivary gland transcriptome of Haemaphysalis flava and identification of sialoprotein genes[J]. Infection,Genetics and Evolution ,2015,32(1):135-142. (chvm.net)

High similarity between fishes and mammals indicates that these gene regions have important functions that are under strong natural selection. (brainkart.com)

The alterations of pyrimidine nucleoside metabolism are hypothesized to cause imbalances of mitochondrial nucleotide pools that, in turn, may cause somatic alterations of mtDNA. (nih.gov)
The present review summarizes the recent achievements in understanding the gene profiles of CAFs and pays special attention to their possible epigenetic alterations. (spandidos-publications.com)
A total of 7 possible genetic alterations and epigenetic changes in CAFs are discussed, including gene differential expression, karyotype analysis, gene copy number variation, loss of heterozygosis, allelic imbalance, microsatellite instability, post‑transcriptional control and DNA methylation. (spandidos-publications.com)

The named and biochemical disorders may or may not have been caused by their initially described genetic variation, but potentially by other gene variations. (medlink.com)
Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. (medscape.com)
Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis. (medscape.com)
Most single gene disorders can be investigated by prenatal diagnosis using DNA extracted from cells obtained from amniocentesis at 16-18 weeks' gestation or chorionic villus sampling (CVS) at about 10-12 weeks' gestation. (dorak.info)
In single gene disorders (as opposed to multifactorial-complex disorders), the mutation's population frequency is low, its penetrance is high, and the contribution of environment is lower with notable exceptions of PKU and few others. (dorak.info)

We summarise the evidence for the adaptive importance of cytoplasmic genes before detailing coadaptation between the cytoplasm and the nucleus, and amongst cytoplasmic components. (nature.com)

This is usually in excess of 65% mutated mtDNA but can widely vary between tissues and individuals. (medscape.com)

The Rac1 inhibitor NSC23766 did not block viral gene expression at any time level. (mirnaassay.com)
The PI3K inhibitors LY294002 and wortmannin had been effective in diminishing viral gene expression only when extra at 0 or two hpi, with the time range of effectiveness just like that with the ERK inhibitor. (mirnaassay.com)
MK 2206, another Akt inhibitor, did not have an impact on viral gene expression, suggesting that block ade of Akt had minor impact on HAstV1 infection. (mirnaassay.com)
Results of kinase inhibitors on viral RNA replication The immunofluorescence detection of viral capsid protein presented a qualitative indication of no matter whether a given kinase inhibitor affected the initiation of the infection processes leading to viral gene expression. (mirnaassay.com)
Not remarkably, drugs that didn't inhibit viral gene expression-inhibitors of MAPK p38s, JNK, Akt, and PKA -had no measurable result within the extent of viral RNA replica tion. (mirnaassay.com)
CAFs are different from NFs, and their unique phenotypes and functions are partly determined by differences in gene expression. (spandidos-publications.com)
These results are consistent with another study concerning the gene expression profiling of breast CAFs, which were detected using a complementary DNA microarray ( 15 ). (spandidos-publications.com)
Then the "gene expression" would become apparent in a later generation? (projectavalon.net)
Among the salt-responsive genes in Arabidopsis , AtP5CS1 , AtNHX1 , AtRD29A , AtSOS3 , AtSOS2 , and AtSOS1 exhibited modulated expression levels after stress imposition. (mdpi.com)
These findings suggest that the expression of both VuWRKY genes in Arabidopsis , particularly VuWRKY21 , activated genes involved in salinity tolerance. (mdpi.com)
The use of somatic cell nuclear transfer to obtain interspecific cloned embryos from brown brocket deer karyoplast and bovine cytoplast: Embryo development and nuclear gene expression. (nupecce.com.br)

Starting from the newly sequenced mtDNA of Ixodes ricinus and using a combination of mitogenomics and transcriptional analyses, we found that in all currently-sequenced tick lineages (Prostriata, Metastriata and Argasidae) the 3'-end of the polyadenylated nad1 and rrnL transcripts does not follow the tRNA punctuation model and is located upstream of a degenerate 17-bp DNA motif. (unipv.it)

It also modulates gene transcription and recombination [ 7 ]. (hindawi.com)

Disease only ensues when the proportion of mutated to wild-type mtDNA exceeds a tissue-specific threshold. (medscape.com)

Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. (medscape.com)
Instead, the phenotype appears to be determined by the relative amounts of deleted and wild-type mtDNA. (medscape.com)

After a long period of evolution, the genetic composition of mt in most metazoans is now present consistently, suggesting that mt genes are important for maintaining the basic functions of mt 9 . (nature.com)

Complicating this picture is that there are 2 sources of genetic material-maternal inherited mtDNA and nuclear DNA. (medlink.com)
mtDNA is inherited almost exclusively through the maternal lineage, with only a single report of paternal inheritance. (medscape.com)

Muscle biopsy should be the first step in the diagnostic flow of PEO when mitochondrial aetiology is suspected since it also enables the study of mtDNA rearrangements. (bmj.com)

This hypothesis could be tested by purifying the gau gene product and determining its sequence. (biomedcentral.com)

DNA sequencing of the five nuclear genes revealed 37 single-nucleotide polymorphism (SNP) sites, and STRUCTURE analysis showed a two-group structure as the most likely grouping solution. (bvsalud.org)

Alternatively, diagnosis may be established by muscle biopsy with histochemistry and mitochondrial DNA (mtDNA) analysis for major rearrangements. (medscape.com)

This is not necessarily a problem for the cell or tissue because multiple copies of mtDNA are present in each cell (in oocytes, this is in the region of 100,000 copies per cell), and both wild type and mutated mtDNA can coexist, a situation known as heteroplasmy. (medscape.com)
In this view, the duplicated genes are under relaxed selection pressure, because there are now four copies (instead of two) available to get the job done. (brainkart.com)
When polyploidy occurs, the original function of the gene can be maintained, freeing the extra copies to develop new functions ( neofunctionalization ), or they can double the capacity of a crucial metabolic pathway. (brainkart.com)

Of the 31 genes, the 21 upregulated genes were primarily associated with cell paracrine and intracellular signaling, transcription regulation and cell adhesion and migration, and their transcriptional products included transforming growth factor-β2 (TGF-β2), insulin-like growth factor-binding protein 2 and transcriptional factor AP-2α/γ ( 11 ). (spandidos-publications.com)

However, some metastriates present a third Tick-Box at an intriguing site--inside the small NCR located at one end of a 3.4 kb translocated region, the other end of which exhibits the nad1 Tick-Box--hinting that this motif could have been involved in metastriate gene order rearrangements. (unipv.it)
The present work characterized the effects of two WRKY genes from Vigna unguiculata , namely VuWRKY21 and VuWRKY87 , on enhancing plant salinity tolerance. (mdpi.com)

The few genes that are retained may allow evolutionary innovations. (brainkart.com)

Anatomy33

Organisms5

Diseases54

Chemicals and Drugs61

Analytical, Diagnostic and Therapeutic Techniques and Equipment26

Phenomena and Processes92

Disciplines and Occupations2

Information Science5

Health Care2

Genomes6

Mutations9

Deletions5

Whole mtDNA1

Mutant mtDNA2

Protein-codin2

Genome9

TRNA genes1

Ribosomal4

Chromosomal rearrangements3

Mitochondrial disease1

Phylogenetic3

RRNA1

Encodes1

Polycistronic1

Introns1

Mutation6

Deletion2

Detects1

Chromosome2

Oxidative2

Exons1

Strands1

Ubiquitin1

Eukaryotes2

Cytochrome2

Reactive oxygen1

Proteins1

Sequences1

Recessive2

Species3

Genetics1

Mammals1

Alterations3

Disorders5

Nucleus1

Tissues1

Expression11

Newly1

Recombination1

Proportion1

Phenotype2

Evolution1

Maternal2

Study1

Hypothesis1

Single1

Analysis1

Copies3

Transcription1

Present2

Evolutionary1