Why genes persist in organelle genomes. (1/503)

Mitochondria and plastids (including chloroplasts) have a small but vital genetic coding capacity, but what are the properties of some genes that dictate that they must remain encoded in organelles?  (+info)

Partial mitochondrial genome sequences of Ostrinia nubilalis and Ostrinia furnicalis. (2/503)

Contiguous 14,535 and 14,536 nt near complete mitochondrial genome sequences respectively were obtained for Ostrinia nubilalis and Ostrinia furnicalis. Mitochondrial gene order was identical to that observed from Bombyx. Sequences comparatively showed 186 substitutions (1.3% sequence divergence), 170 CDS substitutions (131 at 3(rd) codon positions), and an excess of transition mutation likely resulting by purifying selection (d(N)/d(S) = omega congruent with 0.15). Overall substitution rates were significantly higher at 4-fold (5.2%) compared to 2-fold degenerate codons (2.6%). These are the 3(rd) and 4(th) lepidopteran mitochondrial genome reference sequences in GenBank and useful for comparative mitochondrial studies.  (+info)

Traces of archaic mitochondrial lineages persist in Austronesian-speaking Formosan populations. (3/503)

Genetic affinities between aboriginal Taiwanese and populations from Oceania and Southeast Asia have previously been explored through analyses of mitochondrial DNA (mtDNA), Y chromosomal DNA, and human leukocyte antigen loci. Recent genetic studies have supported the "slow boat" and "entangled bank" models according to which the Polynesian migration can be seen as an expansion from Melanesia without any major direct genetic thread leading back to its initiation from Taiwan. We assessed mtDNA variation in 640 individuals from nine tribes of the central mountain ranges and east coast regions of Taiwan. In contrast to the Han populations, the tribes showed a low frequency of haplogroups D4 and G, and an absence of haplogroups A, C, Z, M9, and M10. Also, more than 85% of the maternal lineages were nested within haplogroups B4, B5a, F1a, F3b, E, and M7. Although indicating a common origin of the populations of insular Southeast Asia and Oceania, most mtDNA lineages in Taiwanese aboriginal populations are grouped separately from those found in China and the Taiwan general (Han) population, suggesting a prevalence in the Taiwanese aboriginal gene pool of its initial late Pleistocene settlers. Interestingly, from complete mtDNA sequencing information, most B4a lineages were associated with three coding region substitutions, defining a new subclade, B4a1a, that endorses the origin of Polynesian migration from Taiwan. Coalescence times of B4a1a were 13.2 +/- 3.8 thousand years (or 9.3 +/- 2.5 thousand years in Papuans and Polynesians). Considering the lack of a common specific Y chromosomal element shared by the Taiwanese aboriginals and Polynesians, the mtDNA evidence provided here is also consistent with the suggestion that the proto-Oceanic societies would have been mainly matrilocal.  (+info)

Regulation of mitochondrial translation in yeast. (4/503)

This review provides an overview of the current state of knowledge regarding the control of very unusual mechanism of mitochondrial gene expression and the structure of mitochondrial ribosomes, with emphasis on the potential of the yeast Saccharomyces cerevisiae as a model organism.  (+info)

The increase in mitochondrial DNA copy number in the tissues of gamma-irradiated mice. (5/503)

Changes in the number of mitochondrial DNA (mtDNA) copies in the brain and spleen tissues of gamma-irradiated (3 Gy) mice were studied by comparative analysis of the long-extension PCR products of mtDNA (15.9 kb) and a fragment of the cluster nuclear beta-globin gene (8.7 kb) amplified simultaneously in one and the same test-tube within total DNA. The analysis showed that, compared to the nuclear beta-globin gene, an increase in mtDNA copy number (polyploidization) took place in the brain and spleen cells of mice exposed to gamma-radiation. This data led to the suggestion that the major mechanism for maintenance of the mitochondrial genome, which is constantly damaged by endogenous ROS and easily affected by ionizing radiation or other exogenous factors, is the induction of synthesis of new mtDNA copies on intact or little affected mtDNA templates because the repair systems in the mitochondria function at a low level of efficiency.  (+info)

MitoP2: the mitochondrial proteome database--now including mouse data. (6/503)

The MitoP2 database (http://www.mitop.de) integrates information on mitochondrial proteins, their molecular functions and associated diseases. The central database features are manually annotated reference proteins localized or functionally associated with mitochondria supplied for yeast, human and mouse. MitoP2 enables (i) the identification of putative orthologous proteins between these species to study evolutionarily conserved functions and pathways; (ii) the integration of data from systematic genome-wide studies such as proteomics and deletion phenotype screening; (iii) the prediction of novel mitochondrial proteins using data integration and the assignment of evidence scores; and (iv) systematic searches that aim to find the genes that underlie common and rare mitochondrial diseases. The data and analysis files are referenced to data sources in PubMed and other online databases and can be easily downloaded. MitoP2 users can explore the relationship between mitochondrial dysfunctions and disease and utilize this information to conduct systems biology approaches on mitochondria.  (+info)

mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. (7/503)

The mitochondrial genome, contained in the subcellular mitochondrial network, encodes a small number of peptides pivotal for cellular energy production. Mitochondrial genes are highly polymorphic and cataloguing existing variation is of interest for medical scientists involved in the identification of mutations causing mitochondrial dysfunction, as well as for population genetics studies. Human Mitochondrial Genome Database (mtDB) (http://www.genpat.uu.se/mtDB) has provided a comprehensive database of complete human mitochondrial genomes since early 2000. At this time, owing to an increase in the number of published complete human mitochondrial genome sequences, it became necessary to provide a web-based database of human whole genome and complete coding region sequences. As of August 2005 this database contains 2104 sequences (1544 complete genome and 560 coding region) available to download or search for specific polymorphisms. Of special interest to medical researchers and population geneticists evaluating specific positions is a complete list of (currently 3311) mitochondrial polymorphisms among these sequences. Recent expansions in the capabilities of mtDB include a haplotype search function and the ability to identify and download sequences carrying particular variants.  (+info)

The complete mitochondrial genome of the enigmatic bigheaded turtle (Platysternon): description of unusual genomic features and the reconciliation of phylogenetic hypotheses based on mitochondrial and nuclear DNA. (8/503)

BACKGROUND: The big-headed turtle (Platysternon megacephalum) from east Asia is the sole living representative of a poorly-studied turtle lineage (Platysternidae). It has no close living relatives, and its phylogenetic position within turtles is one of the outstanding controversies in turtle systematics. Platysternon was traditionally considered to be close to snapping turtles (Chelydridae) based on some studies of its morphology and mitochondrial (mt) DNA, however, other studies of morphology and nuclear (nu) DNA do not support that hypothesis. RESULTS: We sequenced the complete mt genome of Platysternon and the nearly complete mt genomes of two other relevant turtles and compared them to turtle mt genomes from the literature to form the largest molecular dataset used to date to address this issue. The resulting phylogeny robustly rejects the placement of Platysternon with Chelydridae, but instead shows that it is a member of the Testudinoidea, a diverse, nearly globally-distributed group that includes pond turtles and tortoises. We also discovered that Platysternon mtDNA has large-scale gene rearrangements and possesses two, nearly identical, control regions, features that distinguish it from all other studied turtles. CONCLUSION: Our study robustly determines the phylogenetic placement of Platysternon and provides a well-resolved outline of major turtle lineages, while demonstrating the significantly greater resolving power of comparing large amounts of mt sequence over that of short fragments. Earlier phylogenies placing Platysternon with chelydrids required a temporal gap in the fossil record that is now unnecessary. The duplicated control regions and gene rearrangements of the Platysternon mtDNA probably resulted from the duplication of part of the genome and then the subsequent loss of redundant genes. Although it is possible that having two control regions may provide some advantage, explaining why the control regions would be maintained while some of the duplicated genes were eroded, examples of this are rare. So far, duplicated control regions have been reported for mt genomes from just 12 clades of metazoans, including Platysternon.  (+info)

... , also known as MTRF1 is a human gene. The protein encoded by this gene directs the ... 2008). "HMRF1L is a human mitochondrial translation release factor involved in the decoding of the termination codons UAA and ... 2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome ... v t e (Articles with short description, Short description matches Wikidata, Genes on human chromosome 13, All stub articles, ...
Genes (Basel). 9 (3): 126. doi:10.3390/genes9030126. PMC 5867847. PMID 29495484. Nargund; et al. (2015). "Mitochondrial and ... Mitochondrial DNA is a DAMP, which only becomes available during mitochondrial damage. Blood mitochondrial DNA levels become ... The mitochondrial unfolded protein response (UPRmt) is turned on in response to mitochondrial stress. Mitochondrial stress ... The mitochondrial free radical theory of ageing (MFRTA) proposes that free radicals produced by mitochondrial activity damage ...
Mitochondria are produced from the transcription and translation of genes both in the nuclear genome and in the mitochondrial ... In mammals, mitochondrial fusion and fission are both controlled by GTPases of the dynamin family. The process of mitochondrial ... Mitochondrial biogenesis is the process by which cells increase mitochondrial numbers. It was first described by John Holloszy ... The majority of mitochondrial protein comes from the nuclear genome, while the mitochondrial genome encodes parts of the ...
... in starfish mitochondrial DNA". Gene. 56 (2-3): 219-30. doi:10.1016/0378-1119(87)90139-9. PMID 3678836. H. T. Jacobs; D. J. ... Elliott; V. B. Math; A. Farquharson (20 July 1988). "Nucleotide sequence and gene organization of sea urchin mitochondrial DNA ... H. Himeno; H. Masaki; T. Kawai; T. Ohta; I. Kumagai; K. Miura; K. Watanabe (1987). "Unusual genetic codes and a novel gene ... M. J. Telford; E. A. Herniou; R. B. Russell; D. T. Littlewood (10 October 2000). "Changes in mitochondrial genetic codes as ...
Mitochondrial genes in some vertebrates (including humans) have incomplete stop codons ending in U or UA, which become complete ... The vertebrate mitochondrial code (translation table 2) is the genetic code found in the mitochondria of all vertebrata. AGA ... Ki, J. S.; Hwang, D. S.; Park, T. J.; Han, S. H.; Lee, J. S. (2009). "A comparative analysis of the complete mitochondrial ... S. Osawa, T. Ohama, T. H. Jukes and K. Watanabe (September 1989). "Evolution of the mitochondrial genetic code. I. Origin of ...
... is a protein that in humans is encoded by the SLC25A3 gene. The encoded protein is a ... The SLC25A3 gene is located on the q arm of chromosome 12 in position 23.1 and spans 8,376 base pairs. The gene has 9 exons and ... Mutations in this gene can cause mitochondrial phosphate carrier deficiency (MPCD), a fatal disorder of oxidative ... "Entrez Gene: SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3". This article incorporates ...
2001). "The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human ... 39S ribosomal protein L11, mitochondrial is a protein that in humans is encoded by the MRPL11 gene. Mammalian mitochondrial ... "Entrez Gene: MRPL11 mitochondrial ribosomal protein L11". Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to ... Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% ...
39S ribosomal protein L39, mitochondrial is a protein that in humans is encoded by the MRPL39 gene. Mammalian mitochondrial ... "The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders". ... "Entrez Gene: MRPL39 mitochondrial ribosomal protein L39". Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to ... O'Brien TW (2002). "Evolution of a protein-rich mitochondrial ribosome: implications for human genetic disease". Gene. 286 (1 ...
2001). "The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human ... 39S ribosomal protein L24, mitochondrial is a protein that in humans is encoded by the MRPL24 gene. Mammalian mitochondrial ... "Entrez Gene: MRPL24 mitochondrial ribosomal protein L24". Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to ... This gene encodes a 39S subunit protein which is more than twice the size of its Escherichia coli counterpart (EcoL24). ...
2001). "The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human ... 39S ribosomal protein L22, mitochondrial is a protein that in humans is encoded by the MRPL22 gene. Mammalian mitochondrial ... "Entrez Gene: MRPL22 mitochondrial ribosomal protein L22". Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and ... O'Brien TW (2002). "Evolution of a protein-rich mitochondrial ribosome: implications for human genetic disease". Gene. 286 (1 ...
2001). "The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human ... 39S ribosomal protein L28, mitochondrial is a protein that in humans is encoded by the MRPL28 gene. Mammalian mitochondrial ... "Entrez Gene: MRPL28 mitochondrial ribosomal protein L28". Kawakami Y, Robbins PF, Wang RF, et al. (1998). "The use of ... This gene encodes a 39S subunit protein, a part of which was originally isolated by its ability to recognize tyrosinase in an ...
39S ribosomal protein L23, mitochondrial is a protein that in humans is encoded by the MRPL23 gene. Mammalian mitochondrial ... "The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders". ... "Entrez Gene: MRPL23 mitochondrial ribosomal protein L23". Sun XX, Dai MS, Lu H (2007). "5-fluorouracil activation of p53 ... This gene encodes a 39S subunit protein. The gene is biallelically expressed, despite its location within a region of imprinted ...
... is a protein that in humans is encoded by the SLC25A19 gene. Solute carrier family ... "Entrez Gene: SLC25A19 solute carrier family 25 (mitochondrial deoxynucleotide carrier), member 19". Maruyama K, Sugano S (1994 ... "Genomic organization and mapping of the gene (SLC25A19) encoding the human mitochondrial deoxynucleotide carrier (DNC)". ... Dolce V, Fiermonte G, Runswick MJ, Palmieri F, Walker JE (Mar 2001). "The human mitochondrial deoxynucleotide carrier and its ...
In River Out of Eden (1995), Richard Dawkins discussed human ancestry in the context of a "river of genes", including an ... When the mitochondrial lineages of daughters of Mitochondrial Eve die out, then the title of "Mitochondrial Eve" shifts forward ... The Mitochondrial Eve can change, when a mother-daughter line comes to an end. It follows from the definition of Mitochondrial ... This is far more recent than when Mitochondrial Eve was proposed to have lived. Mitochondrial Eve, the most recent female-line ...
"BRP44 brain protein 44". Entrez Gene. "mitochondrial pyruvate carrier (MPC) (TC 2.A.105) family". UniProt. "Pyruvate ... is a protein that in humans is encoded by the MPC2 gene. It is a member of the Mitochondrial Pyruvate Carrier (MPC) protein ... Mutations in the MPC2 gene cause an autosomal recessive disease comparable to the symptoms of Mitochondrial pyruvate carrier ... Mitochondrial pyruvate carrier 1 (MPC1) Inborn errors of carbohydrate metabolism GRCh38: Ensembl release 89: ENSG00000143158 - ...
The genetics of mitochondrial trifunctional protein deficiency is based on mutations in the HADHA and HADHB genes which cause ... These genes each provide instructions for making part of an enzyme complex called mitochondrial trifunctional protein. This ... Mutations in the HADHA or HADHB genes that cause mitochondrial trifunctional protein deficiency disrupt all functions of this ... "HADHA gene". Genetics Home Reference. Retrieved 2016-11-05. Reference, Genetics Home. "HADHB gene". Genetics Home Reference. ...
"Mitochondrial DNA". Archived from the original on 2014-02-01. Retrieved 2014-04-23. Casselman, Anne. "Identical Twins' Genes ... Nuclear DNA and mitochondrial DNA differ in many ways, starting with location and structure. Nuclear DNA is located within the ... The mutation rate for nuclear DNA is less than 0.3% while that of mitochondrial DNA is generally higher. Nuclear DNA is known ... It encodes for the majority of the genome in eukaryotes, with mitochondrial DNA and plastid DNA coding for the rest. It adheres ...
The following genes encode rRNAs: The following genes encode tRNAs: Mitochondrial DNA traditionally had the two strands of DNA ... Genes in the human mitochondrial genome are as follows. It was originally incorrectly believed that the mitochondrial genome ... In humans, the light strand of mtDNA carries 28 genes and the heavy strand of mtDNA carries only 9 genes. Eight of the 9 genes ... Eighty percent of mitochondrial DNA codes for mitochondrial RNA, and therefore most mitochondrial DNA mutations lead to ...
The human gene AGK encodes the enzyme mitochondrial acylglycerol kinase. The protein encoded by this gene is a mitochondrial ... Defects in this gene have been associated with mitochondrial DNA depletion syndrome 10. Diseases associated with AGK include ... The AGK gene is located on the 7th chromosome, with its specific location being 7q34. The gene contains 18 exons. AGK encodes a ... "Entrez Gene: AGK acylglycerol kinase". ]Zong NC, Li H, Li H, Lam MP, Jimenez RC, Kim CS, Deng N, Kim AK, Choi JH, Zelaya I, ...
If a gene, for instance, was transferred to the nucleus in one lineage before mitochondrial editing evolved, but remained in ... Human mitochondrial genetics Mitochondrial DNA CoRR Hypothesis Gaziev, A. I.; Shaikhaev, G. O (2010). "Nuclear Mitochondrial ... Containing 37 genes, mitochondrial DNA has an essential role in the production of necessary compounds, such as required enzymes ... The first application of the NUMT term in the domestic cat (Felis catus) example was striking, since mitochondrial gene number ...
The following phylogeny of some genera was recovered by Che et al., 2007 using mitochondrial genes. Most of the subfamilies ... Among the Fejervarya limnocharis Complex in Thailand and Neighboring Countries Revealed by Mitochondrial and Nuclear Genes. ... inferred from mitochondrial and nuclear sequences". Molecular Phylogenetics and Evolution. 43 (1): 1-13. doi:10.1016/j.ympev. ...
A disease with comparable symptoms is also seen in autosomal recessive mutations of the MPC2 gene. Mitochondrial pyruvate ... "HGNC data for MPC1". HUGO Gene Nomenclature Committee. Retrieved 2023-08-21. "Mitochondrial pyruvate carrier 1; MPC1". Online ... Mitochondrial pyruvate carrier deficiency (MPYCD) is an autosomal recessive disease due to mutations in the MPC1 gene on ... is a protein that in humans is encoded by the MPC1 gene. It is part of the Mitochondrial Pyruvate Carrier (MPC) protein family ...
Disease either originates from mutations in mitochondrial rRNA or genes encoding the mitoribosomal proteins. In the case of ... Sylvester JE, Fischel-Ghodsian N, Mougey EB, O'Brien TW (March 2003). "Mitochondrial ribosomal proteins: candidate genes for ... While mitochondrial rRNAs are encoded in the mitochondrial genome, the proteins that make up mitoribosomes are encoded in the ... However, only 8 and 13 proteins are encoded in mitochondrial DNA in yeast and humans respectively. Most mitochondrial proteins ...
"Entrez Gene: FDX1 ferredoxin 1". Hanukoglu I, Jefcoate CR (Apr 1980). "Mitochondrial cytochrome P-450scc. Mechanism of electron ... is a protein that in humans is encoded by the FDX1 gene. In addition to the expressed gene at this chromosomal locus (11q22), ... Human FDX1 genome location and FDX1 gene details page in the UCSC Genome Browser. v t e (Articles with short description, Short ... Sparkes RS, Klisak I, Miller WL (1991). "Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, ...
... (Mff) is a protein that in humans is encoded by the MFF gene. Its primary role is in controlling ... "Entrez Gene: mitochondrial fission factor". Otera H, Wang C, Cleland MM, Setoguchi K, Yokota S, Youle RJ, Mihara K (December ... Knockdown of Mff causes the mitochondrial network to expand (by releasing the Drp1 foci from the outer mitochondrial membrane ... Mitochondrial fission factor plays a crucial role in engaging Drp1 to the outer mitochondrial membrane in order to direct ...
... that in humans is encoded by the PCK2 gene on chromosome 14. This gene encodes a mitochondrial enzyme that catalyzes the ... "Cloning and reporter analysis of human mitochondrial phosphoenolpyruvate carboxykinase gene promoter". Gene. 338 (2): 157-62. ... indicating that the genes originated from a common ancestor gene. Nonetheless, though both genes possess ten exons and nine ... Modaressi S, Brechtel K, Christ B, Jungermann K (July 1998). "Human mitochondrial phosphoenolpyruvate carboxykinase 2 gene. ...
Nishino I, Spinazzola A, Hirano M (1999). "Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder". ... "Gene symbol report , HUGO Gene Nomenclature Committee". "Entrez Gene: ECGF1 endothelial cell growth factor 1 (platelet-derived ... TYMP is a gene that encodes for the enzyme thymidine phosphorylase. The TYMP gene is also known as ECGF1 (endothelial cell ... Genes on human chromosome 22, All stub articles, Human chromosome 22 gene stubs). ...
The alternatively splicing of this gene results in three distinct isoforms, one of which contains an N-terminal mitochondrial ... "Entrez Gene: CRAT carnitine acetyltransferase". McGarry JD, Brown NF (Feb 1997). "The mitochondrial carnitine ... Different subcellular localizations of the CRAT mRNAs are thought to result from alternative splicing of the CRAT gene ... is an enzyme that encoded by the CRAT gene that catalyzes the chemical reaction acetyl-CoA + carnitine ⇌ {\displaystyle \ ...
Aconitase 2, mitochondrial is a protein that in humans is encoded by the ACO2 gene. The secondary structure of ACO2 consists of ... "Entrez Gene: Aconitase 2, mitochondrial". Frishman D, Hentze MW (Jul 1996). "Conservation of aconitase residues revealed by ... Tsui KH, Feng TH, Lin YF, Chang PL, Juang HH (Jan 2011). "p53 downregulates the gene expression of mitochondrial aconitase in ... Tsui KH, Chung LC, Wang SW, Feng TH, Chang PL, Juang HH (2013). "Hypoxia upregulates the gene expression of mitochondrial ...
Endosymbiotic gene transfer, the process by which genes that were coded in the mitochondrial genome are transferred to the ... Adams KL, Palmer JD (December 2003). "Evolution of mitochondrial gene content: gene loss and transfer to the nucleus". ... Clade CoRR hypothesis Haplogroup Heteroplasmy Human mitochondrial DNA haplogroup Human mitochondrial genetics Mitochondrial ... animals have 37 genes in their mitochondrial DNA: 13 for proteins, 22 for tRNAs, and 2 for rRNAs. Mitochondrial genomes for ...
... retinoic acid-inducible gene I (RIG-I)-like receptors and melanoma differentiation-associated gene 5 (MDA5). RIG-I and MDA5 ... Mitochondrial antiviral-signaling protein (MAVS) is a protein that is essential for antiviral innate immunity. MAVS is located ... Li XD, Sun L, Seth RB, Pineda G, Chen ZJ (December 2005). "Hepatitis C virus protease NS3/4A cleaves mitochondrial antiviral ... The formation of this MAVS signaling complex is aided by augmented levels of mitochondrial reactive oxygen species (mROS), ...
... a gene essential for yeast mitochondrial assembly, encodes a subunit of the mitochondrial processing protease". EMBO J. 7 (5): ... Mitochondrial proteins which reach the innermost mitochondrial compartment, the Mitochondrial matrix, often undergo proteolytic ... Mitochondrial processing peptidase is an enzyme complex found in mitochondria which cleaves signal sequences from mitochondrial ... "Uniform nomenclature for the mitochondrial peptidases cleaving precursors of mitochondrial proteins". Trends Biochem. Sci. 18 ( ...
... is a protein that in humans is encoded by the MRPL13 gene. Mammalian mitochondrial ... "Entrez Gene: Mitochondrial ribosomal protein L13". Retrieved 2017-07-05. Mukhopadhyay R, Ray PS, Arif A, Brady AK, Kinter M, ... Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% ... This gene encodes a 39S subunit protein. GRCh38: Ensembl release 89: ENSG00000172172 - Ensembl, May 2017 GRCm38: Ensembl ...
This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can ... Mitochondrial elongation factor 2 is a protein that in humans is encoded by the MIEF2 gene. The MID49 protein is used to assist ... "Entrez Gene: Mitochondrial elongation factor 2". Retrieved 2018-04-01. Losón, Oliver C; Meng, Shuxia; Ngo, Huu; Liu, Raymond; ... "Mitochondrial E3 ubiquitin ligase MARCH5 controls mitochondrial fission and cell sensitivity to stress-induced apoptosis ...
... Neuromuscul Disord. 2003 Mar;13(3):277-82. doi: 10.1016/s0960-8966(03)00014-2 ...
... Researchers can now change DNA in a previously inaccessible ... "Ive been a mitochondrial biologist for 25 years, and I view this as an extremely important advance for the field," says Vamsi ... Mutations in mitochondrial DNA cause over 150 distinct syndromes and affect 1,000 to 4,000 children born in the United States ... A protein secreted by bacteria to kill other microbes has been re-engineered to tweak DNA inaccessible to other gene editors, ...
The mitochondrial myopathies are a group of diseases which often show maternal inheritance as a result of mtDNA defects; some ... Mitochondrial gene defects in patients with NIDDM Diabetologia. 1994 Apr;37(4):372-6. doi: 10.1007/BF00408473. ... One patient had a mutation in the mitochondrial tRNAleu(UUR) gene at bp 3243. This mutation is commonly associated with the ... To assess the importance of mitochondrial gene defects in NIDDM, 150 unrelated diabetic subjects from Wales, UK and 68 ...
The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. ... MRPL38 mitochondrial ribosomal protein L38 [Homo sapiens] MRPL38 mitochondrial ribosomal protein L38 [Homo sapiens]. Gene ID: ... Gene neighbors Overlapping genes and two nearest non-overlapping genes on either side ... MRPL38 mitochondrial ribosomal protein L38 [ Homo sapiens (human) ] Gene ID: 64978, updated on 23-Nov-2023 ...
This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial ... GFM1 G elongation factor mitochondrial 1 [Homo sapiens] GFM1 G elongation factor mitochondrial 1 [Homo sapiens]. Gene ID:85476 ... elongation factor G, mitochondrial. Names. G translation elongation factor, mitochondrial. mitochondrial elongation factor G. ... Gene neighbors Overlapping genes and two nearest non-overlapping genes on either side ...
Links to summary annotated gene data at MGI are provided in Term Detail reports. ... project is a collaborative effort to address the need for consistent descriptions of gene products across databases. You can ... Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse ... Tumor Biology (MTB)), Gene Ontology (GO) Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, ...
... neurons from patients with Lewy-body pathology revealed a deficiency in nuclear-encoded genes for mitochondrial respiration, ... it caused reductions in genes involved in synaptic and mitochondrial function and autophagy. Altogether, these experiments ... neurons in adult mice was sufficient to cause a levodopa-responsive PD-like phenotype with reductions in mitochondrial gene ... Many studies implicate mitochondrial dysfunction as a key contributor to cell loss in Parkinson disease (PD). Previous analyses ...
Gene Model ID. Feature Type. Coordinates. Select Strains. C57BL/6J MGI_C57BL6J_2384815. protein coding gene. Chr14:79635205- ... protein coding gene. Chr14:74828960-74857569 (+). BALB/cJ MGP_BALBcJ_G0021561. protein coding gene. Chr14:72514635-72536656 (+) ... protein coding gene. Chr14:74142893-74172814 (+). PWK/PhJ MGP_PWKPhJ_G0020598. protein coding gene. Chr14:68863116-68889193 (+) ... protein coding gene. Chr14:70119251-70146688 (+). WSB/EiJ MGP_WSBEiJ_G0020908. protein coding gene. Chr14:74503239-74529767 (+) ...
... we investigated the genealogies of the mitochondrial cytochrome oxidase subunit I gene (COI) and the nuclear ribosomal RNA gene ... According to the mitochondrial and nuclear gene genealogies, D. nanus and D. moiwanus are closely related and are sister to the ... Differentiation of the Dragonfly Genus Davidius (Odonata: Gomphidae) in Japan Inferred from Mitochondrial and Nuclear Gene ... in Japan Inferred from Mitochondrial and Nuclear Gene Genealogies," Zoological Science, 23(1), 1-8, (1 January 2006) Include:. ...
Additionally, a pattern of mitochondrial displacement was observed, where mitochondria from one species unidirectionally ... we found that geographically associated life history factors better predict genomic divergence than phenotype and mitochondrial ... Crozier, R.H.; Crozier, Y.C. The cytochrome b and ATPase genes of honeybee mitochondrial DNA. Mol. Biol. Evol. 1992, 9, 474-482 ... A 1001 bp fragment of the mitochondrial genes cytochrome c oxidase subunit 1 (cox1) and subunit 2 (cox2) was amplified using ...
2023 Gene Codes Corporation , 525 Avis Drive , Suite 4 , Ann Arbor, MI , 48108-8948 , (734) 769-7249 ... Gene Codes will make an announcement when the new, fully compatible version is released. We understand that these unforeseen ...
Possible gene-therapies that improve the mitochondrial functions. PGC-1α, which is encoded by the PPARGC1A. gene, has been ... genes, could be applied or targeted in anti-cancer gene therapy.. Alternatively, TF-encoding genes can be applied to anti- ... and mitochondrial factor-encoding genes, GGAA-motif binding factors could upregulate the mitochondrial functions at the ... upstream non-protein-encoding regions of the human mitochondrial function-associated genes, we speculate that mitochondrial ...
Culicoides puncticollis isolate Cul231 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial. Kristensen, Michael ... title = "Culicoides puncticollis isolate Cul231 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial", ... Culicoides puncticollis isolate Cul231 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial. ... T1 - Culicoides puncticollis isolate Cul231 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial ...
Culicoides nubeculosus isolate Cul210 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial. Kristensen, Michael ... title = "Culicoides nubeculosus isolate Cul210 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial", ... Culicoides nubeculosus isolate Cul210 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial. ... T1 - Culicoides nubeculosus isolate Cul210 cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial ...
In 1993 it was shown that an A to G substitution at base pair 1555 of the mitochondrial 12S ribosomal RNA gene was the only ... We have thus confirmed the clinical relevance of the 1555 A to G mitochondrial mutation in the 12S rRNA gene by identifying it ... Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. ... Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. ...
Why are genes for cytoplasmic male sterility in plants generally located in mitochondrial genome? ... Why are genes for cytoplasmic male sterility in plants generally located in mitochondrial genome? ... called as plasmogenes or cytoplasmic genes. Cytoplasmic male sterility (i.e., dominance of female cytoplasmic genes over male) ... The genes, located outside of nucleus (i.e., within the cytoplasm) also governs some traits, ...
Polymorphism of invasive and native Harmonia axyridis populations on the mitochondrial atp-6 gene quantity. ... Polymorphism of invasive and native Harmonia axyridis populations on the mitochondrial atp-6 gene. ... In the H. axyridis genome, an ancient form of the atp-6 gene was transferred to the nuclear genome, which is represented with a ... high frequency in the mitochondrial genome of H. axyridis from the western population group. ...
... and reduced mitochondrial mass and function. We hypothesized a HFD may affect expres ... genes of the electron transport chain), nuclear genes encoding mitochondrial proteins (e.g., mitochondrial carrier proteins), ... We chose two murine genes from complex I; one gene each from complexes II, III, and IV; and one mitochondrial carrier protein ... Reduced expression of genes involved in mitochondrial biogenesis in murine skeletal muscle after a 3-week HFD.. In parallel to ...
The expression of genes in the nucleus is regulated by epigenetic processes that can turn genes on and off. We have shown that ... Recently, scientists have shown that DNA methylation, a key epigenetic mark, also regulates genes in the mitochondrial genome. ... 13 are encoded by genes located in the mitochondria. The expression of these genes is very tightly regulated to ensure enough ... This project will use cutting-edge methodologies to address the hypothesis that mitochondrial dysfunction in AD brain is a ...
A conditional mouse mutant in the tumor suppressor SdhD gene unveils a link between p21(WAF1/Cip1) induction and mitochondrial ... A conditional mouse mutant in the tumor suppressor SdhD gene unveils a link between p21(WAF1/Cip1) induction and mitochondrial ... A conditional mouse mutant in the tumor suppressor SdhD gene unveils a link between p21(WAF1/Cip1) induction and mitochondrial ... A conditional mouse mutant in the tumor suppressor SdhD gene unveils a link between p21(WAF1/Cip1) induction and mitochondrial ...
Gene expression and development in Coenzyme Q deficiency: a model to establish the origin of this mitochondrial disease Dr ... Gene expression in a Drosophila model of mitochondrial disease. PLoS One. 2010 Jan 6;5(1):e8549. doi: 10.1371/journal.pone. ... Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative ... Mitochondrial ROS Produced via Reverse Electron Transport Extend Animal Lifespan. Cell Metab. 2016 Apr 12;23(4):725-34. doi: ...
Mitochondrial complex I deficiency is a shortage (deficiency) of a protein complex called complex I or a loss of its function. ... When mitochondrial complex I deficiency is caused by a mutation in a gene found in mtDNA, it is inherited in a mitochondrial ... Mutations in many genes can cause mitochondrial complex I deficiency. Most of these genes provide instructions for making ... Most genes known to be involved in mitochondrial complex I deficiency are found in nuclear DNA, which is packaged in ...
Defining the Common genes in mitochondrial DNA control region of Modern Native Egyptian Mau ...
The Relationship between Clock Genes, Sirtuin 1, and Mitochondrial Activity in Head and Neck Squamous Cell Cancer: Effects of ... However, the direct links between circadian clock gene expression, mitochondrial activity, and the antiproliferative effects of ... The Relationship between Clock Genes, Sirtuin 1, and Mitochondrial Activity in Head and Neck Squamous Cell Cancer: Effects of ... including mitochondrial activity. Increasing evidence links chronodisruption with aberrant functionality in clock gene ...
This study was designed to investigate the association of gene polymorphisms in the p53 gene and mitochondrial genome D-loop ... Association of p53 and mitochondrial gene with chemosensitization by metformin in ovarian cancer. ... we screened the potential indicators for forecasting of metformin sensitivity using p53 and mitochondrial D-loop region gene ... Objective: This study aims to investigate the association of p53 and D-loop gene with drug resistance and sensitization induced ...
The complex and diversified mitochondrial gene pool of Berber populations. Clotilde Coudray, A. Olivieri, A. Achilli, M. Pala, ... Dive into the research topics of The complex and diversified mitochondrial gene pool of Berber populations. Together they ...
Patients with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) have strokelike ... is a mitochondrial genetic disease with the majority of mutations in the mtDNA gene, MT-TL1. At least 30 different point ... Mitochondrial DNA analysis. Mitochondrial DNA analysis is now available commercially from several sources to identify the ... MELAS - Mitochondrial Encephalomyopathy, Lactic Acidosis, Strokelike Episodes * Sections MELAS - Mitochondrial ...
T1 - Phylogenetic relationship between Dermanyssus gallinae populations in European countries based on mitochondrial COI gene ... Phylogenetic relationship between Dermanyssus gallinae populations in European countries based on mitochondrial COI gene ... Phylogenetic relationship between Dermanyssus gallinae populations in European countries based on mitochondrial COI gene ... Phylogenetic relationship between Dermanyssus gallinae populations in European countries based on mitochondrial COI gene ...
The complete mt genome is 14,373 bp in size and comprises 36 genes, including 12 protein-coding, two rRNA and 22 tRNA ... genes. Apart from 28 intergenic regions, one non-coding region and one overlapping region also occur. A comparison of the gene ... This study aimed to determine the complete mitochondrial (mt) genome of W. compar and reconstruct its phylogenetic relationship ... comparand conducted phylogenetic analyses using concatenated coding sequences of 12 protein-coding genes (PCGs) by maximum ...
Plakina kanaky mitochondrial partial COI gene for cytochrome oxidase subunit 1, ... Plakina kanaky mitochondrial partial COI ... Plakina kanaky mitochondrial partial COI gene for cytochrome oxidase subunit 1, specimen voucher DJV174. GenBank: HG799484.1 ... gene for cytochrome oxidase subunit 1, specimen voucher DJV174. gi,619325765,emb,HG799484.1, ...
  • Why are genes for cytoplasmic male sterility in plants generally located in mitochondrial genome? (topperlearning.com)
  • Recently, scientists have shown that DNA methylation, a key epigenetic mark, also regulates genes in the mitochondrial genome. (neurodegenerationresearch.eu)
  • The complete mitochondrial genome of the Warm Springs pupfish, Cyprinodon nevadensis pectoralis. (ucdenver.edu)
  • This study was designed to investigate the association of gene polymorphisms in the p53 gene and mitochondrial genome D-loop region with metformin-induced sensitization and prognosis of ovarian cancer. (oncotarget.com)
  • This study aimed to determine the complete mitochondrial (mt) genome of W. compar and reconstruct its phylogenetic relationship with other nematodes. (nature.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)
  • 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)
  • Mitochondria do a lot with their relatively paltry 37 genes-compared to around 30,000 in the nuclear human genome-generating the chemical energy that drives normal cellular function and synthesizing important hormones and neurotransmitters. (ubigene.us)
  • In this study, we report the first complete mitochondrial genome sequence from a member of this family, Silene latifolia . (biomedcentral.com)
  • The genome contains the fewest genes of any angiosperm mitochondrial genome sequenced to date, with intact copies of only 25 of the 41 protein genes inferred to be present in the common ancestor of angiosperms. (biomedcentral.com)
  • The genome has also experienced a major reduction in tRNA gene content, including loss of functional tRNAs of both native and chloroplast origin. (biomedcentral.com)
  • Even assuming expanded wobble-pairing rules, the mitochondrial genome can support translation of only 17 of the 61 sense codons, which code for only 9 of the 20 amino acids. (biomedcentral.com)
  • The size and complexity of plant mitochondrial genomes, especially when compared with animals and fungi, make them powerful models for exploring the forces affecting eukaryotic genome structure and evolution. (biomedcentral.com)
  • Plant mitochondrial genomes contain genes for their own rRNA subunits as well as for some of the ribosomal proteins and tRNAs required for translation (Figure 1 ), but many necessary ribosomal protein and tRNA genes are located in the nuclear genome, so their gene products must be imported into the mitochondrion [ 15 ]. (biomedcentral.com)
  • 1) "native" tRNAs encoded in the mitochondrial genome and inherited from the α-proteobacterial progenitor of mitochondria, 2) chloroplast-like tRNAs, which are also encoded in the mitochondrial genome but which were acquired by functional gene transfer from the chloroplast genome during land plant evolution, and 3) nuclear-encoded tRNAs imported from the cytosol. (biomedcentral.com)
  • In this study, a comparative analysis of select insect mitochondrial DNA (mtDNA) representing five insect orders (Diptera, Lepidoptera, Hemiptera, Ephemeroptera and Coleoptera) consisting of 24 different species in an effort to study a common set of genes and to understand the evolution of mitochondrial genome with respect to Cytochrome Oxidase subunit 1 (CO1), 16srRNA and 12srRNA gene sequences was done. (journalcra.com)
  • To compare the similarity between closely related insect mitochondrial genome sequences, pairwise distance matrix was constructed using the MEGA tool. (journalcra.com)
  • This assay is targeted for the specific mutations listed above and does not assess any other region of the mitochondrial genome. (geneticscenter.com)
  • The genotype (or genome) is a person's unique combination of genes or genetic makeup. (msdmanuals.com)
  • Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. (nih.gov)
  • Many studies implicate mitochondrial dysfunction as a key contributor to cell loss in Parkinson disease (PD). (nature.com)
  • Importantly, it has been suggested that mitochondrial dysfunction might precede the metabolic change. (intechopen.com)
  • These changes mimic those observed in diabetes and insulin resistance and, if sustained, may result in mitochondrial dysfunction in the prediabetic/insulin-resistant state. (diabetesjournals.org)
  • This project will use cutting-edge methodologies to address the hypothesis that mitochondrial dysfunction in AD brain is a result of epigenetic changes to the mitochondrial DNA. (neurodegenerationresearch.eu)
  • Transcriptomic and ultrastructural evidence indicate that anti-HMGB1 antibodies rescue organic dust-induced mitochondrial dysfunction. (cdc.gov)
  • Recently, we have also observed that OD exposure induces mitochondrial dysfunction characterized by loss of structural integrity and deficits in bioenergetics. (cdc.gov)
  • However, the role of HMGB1 in OD-induced mitochondrial dysfunction in human bronchial epithelial (NHBE) cells remains elusive. (cdc.gov)
  • Therefore, we aimed to study whether decreased levels of intracellular HMGB1 or antibody-mediated neutralization of secreted HMGB1 would rescue mitochondrial dysfunction. (cdc.gov)
  • Our results support our hypothesis that, in NHBE cells, neutralization of ODE-induced HMGB1 secretion rescues OD-induced mitochondrial dysfunction. (cdc.gov)
  • Scientists report a new gene-editing tool that can target DNA in mitochondria (red). (sciencenews.org)
  • Of the 97 proteins involved in the ETC, 13 are encoded by genes located in the mitochondria. (neurodegenerationresearch.eu)
  • In a creative feat of molecular engineering, scientists have for the first time developed a gene editing tool capable of making targeted, single base pair changes in the DNA of mitochondria. (ubigene.us)
  • Mitochondrial DNA has remained inaccessible to those methods because the guide RNA molecules used to target specific DNA sequences to be edited can't get into mitochondria. (acs.org)
  • The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. (nih.gov)
  • Building on previous work showing that SARS-CoV-2 binds to mitochondria proteins and possibly affects oxidative phosphorylation, glycolysis, and other metabolic processes, researchers from the Children's Hospital of Philadelphia and elsewhere analyzed mitochondrial gene expression of about 700 nasopharyngeal samples from people with early-stage COVID-19 and 35 autopsy tissue samples from patients who had severe disease. (genomeweb.com)
  • No diabetic subject was shown to have the mtDNA mutation at position 8344 (tRNA(lys)) which has previously been described in the syndrome of mitochondrial encephalomyopathy and red-ragged fibres (MERRF). (nih.gov)
  • Because of the characteristic inheritance pattern, mitochondrial DNA (mtDNA) mutations were postulated to be the cause of the deafness in these pedigrees. (bmj.com)
  • Amplified mtDNA, obtained from transformed lymphoblastoid cell lines using previously described primers, showed the A to G point mutation in the 12S rRNA gene in two of the three families by restriction analysis as well as direct sequencing. (bmj.com)
  • In addition to the cellular energy sensor AMP kinase, the peroxisome proliferator-activated receptor cofactors PGC1α ( 5 , 6 , 7 ) and possibly PGC1β ( 8 ) activate mitochondrial biogenesis and increase OXPHOS gene expression by increasing the transcription, translation, and activation of the transcription factors necessary for mitochondrial DNA (mtDNA) replication. (diabetesjournals.org)
  • Therapies that enhance mitochondrial function, minimize mROS, and block mtDNA release potentially could reduce the more severe symptoms of acute SARS-CoV-2 infection and mitigate the symptoms of long COVID," the researchers say. (genomeweb.com)
  • The banded newt (genus Ommatotriton) from the Near East has been proposed to contain three species (O. nesterovi, O. ophryticus and O. vittatus) with unclear phylogenetic relationships, apparently limited interspecific gene flow and deep intraspecific geographic mtDNA structure. (lu.se)
  • Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. (nih.gov)
  • Analysis of GFM1 gene mutations in a family with combined oxidative phosphorylation deficiency 1]. (nih.gov)
  • Six genes involved in oxidative phosphorylation (OXPHOS) decreased. (diabetesjournals.org)
  • Two recent microarray studies have shown that genes involved in oxidative phosphorylation (OXPHOS) exhibit reduced expression levels in the skeletal muscle of type 2 diabetic subjects and prediabetic subjects. (diabetesjournals.org)
  • Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation. (cabd.es)
  • Mutations that cause mitochondrial complex I deficiency impair the formation or function of complex I. As a result, complex I activity is reduced and oxidative phosphorylation is impaired. (medlineplus.gov)
  • Mitochondrial complex I (CI) deficiency is characterized by a deficiency of the first and largest of the oxidative phosphorylation complexes (Fassone and Rahman 2012). (preventiongenetics.com)
  • Isolated mitochondrial CI deficiency is the most frequently reported childhood-onset mitochondrial disease, and may account for roughly one-third of all oxidative phosphorylation disorders (Skladal et al. (preventiongenetics.com)
  • As they report in Science Translational Medicine , the researchers found SARS-CoV-2 blocked the expression of oxidative phosphorylation-related mitochondrial genes while inducing glycolysis and immune responses in early-stage disease. (genomeweb.com)
  • One patient had a mutation in the mitochondrial tRNAleu(UUR) gene at bp 3243. (nih.gov)
  • This mutation is commonly associated with the syndrome of mitochondrial encephalomyopathy, lactic acidosis and stroke like episodes (MELAS). (nih.gov)
  • The role of other mitochondrial gene defects in diabetes and the pathophysiological basis of glucose intolerance in patients with the MELAS mutation requires further elucidation. (nih.gov)
  • Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. (bmj.com)
  • In 1993 it was shown that an A to G substitution at base pair 1555 of the mitochondrial 12S ribosomal RNA gene was the only mutation common to all the families with aminoglycoside ototoxicity. (bmj.com)
  • We have thus confirmed the clinical relevance of the 1555 A to G mitochondrial mutation in the 12S rRNA gene by identifying it in affected subjects with familial aminoglycoside ototoxicity in another ethnic group. (bmj.com)
  • When the disorder is caused by a mutation in a gene found in nuclear DNA, it has autosomal recessive or X-linked inheritance. (medlineplus.gov)
  • Mitochondrial DNA is 10 times more prone to mutation than somatic DNA. (medscape.com)
  • We demonstrate that the Python phenotype is attributable to a dominant fully penetrant mutation in the dynamin-1-like (Dnm1l) gene, which has been shown to be critical for mitochondrial fission. (ljmu.ac.uk)
  • Some traits are caused by mutated genes that are inherited or that are the result of a new gene mutation. (msdmanuals.com)
  • Previous analyses of dopaminergic (DAergic) neurons from patients with Lewy-body pathology revealed a deficiency in nuclear-encoded genes for mitochondrial respiration, many of which are targets for the transcription factor estrogen-related receptor gamma ( Esrrg /ERRγ). (nature.com)
  • We demonstrate that deletion of ERRγ from DAergic neurons in adult mice was sufficient to cause a levodopa-responsive PD-like phenotype with reductions in mitochondrial gene expression and number, that partial deficiency of ERRγ hastens synuclein-mediated toxicity, and that ERRγ overexpression reduces inclusion load and delays synuclein-mediated cell loss. (nature.com)
  • Laser-captured microdissected (LCM) DAergic neurons from postmortem tissue of patients with Lewy-pathology revealed a deficiency in expression for nuclear-encoded genes involved in mitochondrial respiration and function 12 . (nature.com)
  • Mitochondrial complex I deficiency is a shortage (deficiency) of a protein complex called complex I or a loss of its function. (medlineplus.gov)
  • Mitochondrial complex I deficiency can cause a wide variety of signs and symptoms affecting many organs and systems of the body, particularly the nervous system, the heart, and the muscles used for movement (skeletal muscles). (medlineplus.gov)
  • People with mitochondrial complex I deficiency typically have neurological problems, such as abnormal brain function (encephalopathy), recurrent seizures (epilepsy), intellectual disability, difficulty coordinating movements (ataxia), or involuntary movements (dystonia). (medlineplus.gov)
  • People with mitochondrial complex I deficiency sometimes have heart, liver, or kidney problems. (medlineplus.gov)
  • Some people with mitochondrial complex I deficiency have groups of signs and symptoms that are classified as a specific syndrome. (medlineplus.gov)
  • For example, a condition called Leigh syndrome is most commonly caused by mitochondrial complex I deficiency. (medlineplus.gov)
  • Another condition that can be caused by mitochondrial complex I deficiency, Leber hereditary optic neuropathy , is associated mainly with vision problems due to optic nerve degeneration. (medlineplus.gov)
  • Mitochondrial complex I deficiency is the most common cause of mitochondrial disease in children, accounting for approximately 30 percent of cases. (medlineplus.gov)
  • Mutations in many genes can cause mitochondrial complex I deficiency. (medlineplus.gov)
  • Most genes known to be involved in mitochondrial complex I deficiency are found in nuclear DNA, which is packaged in chromosomes within the cell nucleus . (medlineplus.gov)
  • Mitochondrial complex I deficiency has several inheritance patterns, depending on the gene involved. (medlineplus.gov)
  • NDUFAF4 sequencing should be considered for patients who present with symptoms consistent with mitochondrial complex I (CI) deficiency or for individuals with a family history of mitochondrial CI deficiency. (preventiongenetics.com)
  • NDUFAF4 -associated mitochondrial CI deficiency has been reported in in six patients from two separate families (Saada et al. (preventiongenetics.com)
  • Due to the many structural and accessory subunits required to support the assembly and function of complex I, mitochondrial CI deficiency is a genetically heterogeneous disorder. (preventiongenetics.com)
  • Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. (nih.gov)
  • Identification and characterization of novel MPC1 gene variants causing mitochondrial pyruvate carrier deficiency. (nih.gov)
  • De novo frameshift variant in MT-ND1 causes a mitochondrial complex I deficiency associated with MELAS syndrome. (bvsalud.org)
  • Complex I deficiency was confirmed in the patient 's muscle via mitochondrial respiratory chain enzyme activity assay. (bvsalud.org)
  • Blue native PAGE analysis revealed that m.3571_3572insC caused a deficiency in the mitochondrial complex I. Oxygen consumption rate, ATP production , and lactate assays found an impairment of cellular bioenergetic capacity due to m.3571_3572insC. (bvsalud.org)
  • Mitochondrial diseases are thought to occur in about 1 in 8,500 people. (medlineplus.gov)
  • Increasing evidence links chronodisruption with aberrant functionality in clock gene expression, resulting in multiple diseases such as cancer. (ugr.es)
  • as in all diseases with mitochondrial transmission, the disease is inherited via the ovum and hence always from the mother. (medscape.com)
  • Ubigene exclusive KO Cell Line Bank, over 5000 KO cell lines, covering thousands of genes from 8 popular signaling pathways and nearly 100 diseases. (ubigene.us)
  • The new editor, derived from a bacterial toxin, could allow researchers to better study mitochondrial diseases ahead of possible future treatments, Science reports. (ubigene.us)
  • Because of the difficulty in rewriting mitochondrial DNA, scientists have struggled to create animal models of mitochondrial diseases with the same mutations to study them in detail. (ubigene.us)
  • Even a single base pair change in many of these genes can lead to devastating, and often deadly, diseases, STAT reports. (ubigene.us)
  • Mitochondrial diseases often begin manifesting from birth. (ubigene.us)
  • However, the role of m.3571_3572insC in inherited mitochondrial diseases has yet to be elucidated. (bvsalud.org)
  • This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. (medscape.com)
  • We are dedicated to supporting Canadians living with mitochondrial disease by developing education and awareness programs, advocating to improve the health and quality of life of those living with mito at provincial and federal levels, and we fund research that is patient-focused and transformational. (globalgenes.org)
  • MitoAction's mission is to improve the quality of life for children, adults, and families living with mitochondrial disease through support, education, outreach, advocacy, clinical research initiatives and by granting wishes for children affected by mitochondrial disease. (globalgenes.org)
  • To infer the differentiation of Japanese Davidius dragonflies, we investigated the genealogies of the mitochondrial cytochrome oxidase subunit I gene (COI) and the nuclear ribosomal RNA gene region encompassing 18S, ITS1, 5.8S, and ITS2 sequences for three species endemic to Japan- Davidius nanus , D. fujiama , and D. moiwanus -as well as D. lunatus from the Korean Peninsula. (bioone.org)
  • Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. (nih.gov)
  • This gene encodes a 39S subunit protein. (nih.gov)
  • In this work, we made use of the inducible SDHD-ESR mouse, a conditional mutant in the SdhD gene, which encodes the small subunit of MCII, and that acts as a tumor suppressor gene in humans. (ed.ac.uk)
  • To characterize genetic diversity and gene flow among Daphnia galeata populations, the complete nucleotide (nt) sequences of the mitochondrial (mt) DNAs of D. galeata clones isolated from five lakes in Japan (Lakes Shirakaba, Suwa, Kizaki, Kasumigaura, and Biwa) were determined. (unboundmedicine.com)
  • Mutations in mitochondrial DNA cause over 150 distinct syndromes and affect 1,000 to 4,000 children born in the United States each year. (sciencenews.org)
  • Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome (see this term) characterized clinically by encephalopathy lactic acidosis seizures cardiomyopathy respiratory disorders and developmental delay with onset in infancy or early childhood and resulting from maternally-inherited mutations in mitochondrial DNA. (globalgenes.org)
  • Comparison of non-synonymous (amino acid altering) substitution rates with synonymous substitution rates of D. galeata mt protein-coding genes demonstrated that ATPase8 and COI genes were the most and least susceptible, respectively, to the evolutional forces selecting the aa substitutions. (unboundmedicine.com)
  • Structures of the human mitochondrial ribosome bound to EF-G1 reveal distinct features of mitochondrial translation elongation. (nih.gov)
  • To assess the importance of mitochondrial gene defects in NIDDM, 150 unrelated diabetic subjects from Wales, UK and 68 unrelated patients with diabetes and at least one affected sibling from England, UK were studied. (nih.gov)
  • The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) has strokelike events that are acute in onset, often transient, and occasionally associated with a febrile illness. (medscape.com)
  • The prevalence of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) is 16-18/100,000, with the highest reported diagnostic rate in Western regions and the lowest rate in Asia. (medscape.com)
  • The most common mitochondrial disease, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), causes repeated seizures in young children and can stem from a single nucleotide change in the MT-TL1 gene that slows protein production. (ubigene.us)
  • Mitochondrial translational release factor 1, also known as MTRF1 is a human gene. (wikipedia.org)
  • These findings suggest a markedly expanded role for nuclear gene products in the translation of mitochondrial genes in S. latifolia and raise the possibility of altered selective constraints operating on the mitochondrial translational apparatus in this lineage. (biomedcentral.com)
  • Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits. (ucdenver.edu)
  • Targeted testing for familial variants (also called site-specific or known variants testing) is available for the genes on this panel. (mayocliniclabs.com)
  • Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. (nih.gov)
  • The m.3571_3572insC was filtered for the candidate variant of the patient according to the guidelines for mitochondrial mRNA variants interpretation. (bvsalud.org)
  • Codon optimization refers to the use of preferred codons, to simplify the secondary structure of post-transcriptional mRNA, remove motif, that is not conducive to high expression, and add a motif, that is conducive to high expression to adjust GC content and other methods to redesign genes. (mitochondriasci.com)
  • Creative Biogene gene design includes not only codon optimization, but also mRNA structure modification, translation initiation site optimization, and so on. (mitochondriasci.com)
  • Gene expression also relies on extensive C-to-U (and sometimes U-to-C) RNA editing, in which substitution of specific pyrimidines in the mRNA sequence restores phylogenetically conserved codons [ 8 ]. (biomedcentral.com)
  • Homo sapiens uracil-DNA glycosylase (UNG), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. (lu.se)
  • 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)
  • Further evidence suggests that during PD progression, transcriptional programs for the expression of genes involved in mitochondrial structure and function are disrupted 11 . (nature.com)
  • GXD's primary emphasis is on endogenous gene expression during development. (jax.org)
  • We hypothesized a HFD may affect expression of genes involved in mitochondrial function and biogenesis. (diabetesjournals.org)
  • PGC1α- and PGC1β-responsive OXPHOS genes show reduced expression in the muscle of patients with type 2 diabetes ( 3 , 4 ). (diabetesjournals.org)
  • The expression of these genes is very tightly regulated to ensure enough energy is produced to fuel the cells. (neurodegenerationresearch.eu)
  • The expression of genes in the nucleus is regulated by epigenetic processes that can turn genes on and off. (neurodegenerationresearch.eu)
  • Therefore, we performed microarray analysis of adrenal medulla and kidney in order to identify other early gene expression changes elicited by SdhD deletion. (ed.ac.uk)
  • Our results revealed that each mutant tissue displayed different variations in their gene expression profiles affecting to different biological processes. (ed.ac.uk)
  • Gene expression in a Drosophila model of mitochondrial disease. (cabd.es)
  • Hypercapnia alters mitochondrial gene expression and acylcarnitine production in monocytes. (ucdenver.edu)
  • Melatonin, whose production and secretion oscillates according to the light-dark cycle, is the principal regulator of clock gene expression. (ugr.es)
  • However, the direct links between circadian clock gene expression, mitochondrial activity, and the antiproliferative effects of melatonin in cancers, including head and neck squamous cell carcinoma (HNSCC), remain largely unknown. (ugr.es)
  • To meet the needs of global researchers for efficient synthesis and expression of mitochondrial genes, Creative Biogene uses a professional software platform to provide efficient and accurate professional services for the design and optimization of mitochondrial genes and vectors and to solve problems during mitochondrial gene synthesis. (mitochondriasci.com)
  • To maximize the expression level of synthetic genes in all existing expression systems and meet the needs of global researchers for efficient synthesis and expression of mitochondrial genes, Creative Biogene uses a professional software platform to provide efficient and accurate services for the design and optimization of mitochondrial genes and vectors. (mitochondriasci.com)
  • Professional design, screening, and optimization of parameters to regulate antibody gene expression and immunogenicity. (mitochondriasci.com)
  • Biochimica et Biophysica Acta (BBA) - Gene Structure and Expression. (wikipedia.org)
  • Mitochondrial pyruvate carrier 1 expression controls cancer epithelial-mesenchymal transition and radioresistance. (nih.gov)
  • But while in late-stage disease the virus was largely cleared and the expression of mitochondrial genes appeared to return to normal in the lungs, mitochondrial genes remained affected in other organs like the heart, liver, and kidneys. (genomeweb.com)
  • Site-directed mutagenesis of the reporter gene constructs established that independent mutations to a cyclic AMP-responsive element (CRE-2) or one of two TTCC motifs (BRE [brown fat regulatory element]), all within 17 bp, eliminated transient expression. (elsevierpure.com)
  • Single and repeated ODE exposure showed an elongated mitochondrial network and cristolysis whereas HMGB1 neutralization or the lack thereof promotes mitochondrial biogenesis evidenced by increased mitochondrial fragmentation, increased DRP1 expression, decreased MFN2 expression, and increased PGC1a expression. (cdc.gov)
  • Whether and how a gene is expressed is determined by a complex interaction of multiple factors including genotype, gene expression, environmental factors (including illnesses and diet), and other factors, some of which are unknown. (msdmanuals.com)
  • The mitochondrial respiratory chain complex I (nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase) is composed of at least 45 structural subunits (Fassone and Rahman 2012). (preventiongenetics.com)
  • Newly diagnosed with Mitochondrial DNA-associated Leigh syndrome? (globalgenes.org)
  • In addition, genes encoding 18S and, especially, 5S rRNA exhibit exceptional sequence divergence relative to other plants. (biomedcentral.com)
  • Divergence in one region of 18S rRNA appears to be the result of a gene conversion event, in which recombination with a homologous gene of chloroplast origin led to the complete replacement of a helix in this ribosomal RNA. (biomedcentral.com)
  • Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. (nih.gov)
  • Structural insights into mammalian mitochondrial translation elongation catalyzed by mtEFG1. (nih.gov)
  • The tRNA species were identical in most species with an exception that two of the twenty four species had an additional tRNA gene. (journalcra.com)
  • Combined, these results suggest a mechanism whereby HFD downregulates genes necessary for OXPHOS and mitochondrial biogenesis. (diabetesjournals.org)
  • At the molecular and structural level, mitochondrial biogenesis and mitochondrial function are altered in diabetes, as well as in insulin-resistant relatives of type 2 diabetic subjects ( 1 , 2 ). (diabetesjournals.org)
  • Being able to edit mitochondrial DNA is very important from both a basic biology and a disease perspective," says Vamsi K. Mootha, an expert on mitochondrial biology at Harvard Medical School and the Howard Hughes Medical Institute (HHMI), who was involved in the new study. (acs.org)
  • We are driven by a nationwide community of ambassadors solely focused on supporting patients and families affected by mitochondrial disease. (globalgenes.org)
  • Another mitochondrial disease, mitochondrial DNA depletion syndrome (MDDS), attacks the muscles and brain as a result of single point mutations across multiple genes. (ubigene.us)
  • Identification of a disease-causing variant may assist with diagnosis, prognosis, clinical management, familial screening, and genetic counseling for nuclear mitochondrial disease. (mayocliniclabs.com)
  • In a Novartis-sponsored study in the New England Journal of Medicine, researchers found that a CRISPR-Cas9-based treatment targeting promoters of genes encoding fetal hemoglobin could reduce disease symptoms. (genomeweb.com)
  • Phylogenetic analysis of Dermanyssus gallinae mites originating from UK, France and Italy was performed using partial amplification of the mitochondrial COI gene. (coventry.ac.uk)
  • The phylogenetic relationships of the three major species groups of Tribolium (Coleoptera: Tenebrionidae) were inferred using the simultaneous analysis of 642 bp of the most conserved part of mitochondrial DNA (mt DNA) cytochrome oxidase I (COI)and 448-452 bp of mt 16S rDNA. (irb.hr)
  • We determine population structure (with Bayesian clustering and principal component analysis), interspecific gene flow (by determining the distribution of species-diagnostic alleles) and phylogenetic relationships (by maximum likelihood inference of concatenated sequence data and based on a summary-coalescent approach). (lu.se)
  • in fact, these genes are targets of the transcriptional coactivator and master regulator of transcription of mitochondrial genes peroxisome proliferator-activated receptor gamma coactivator-1 alpha (PGC-1α) 12 . (nature.com)
  • A bacterial toxin (yellow) is split into two pieces and each are guided to the spot to be edited on mitochondrial DNA by programmable DNA-binding proteins (orange and pink). (acs.org)
  • Key role in aerobic respiration, in which mitochondrial enzymes accept electrons from electron carriers reduced in glycolysis and the tricarboxylic acid cycle. (yeastgenome.org)
  • Repeated 5-day ODE exposure significantly downregulated transcripts encoding mitochondrial respiration and metabolism (ATP synthase, NADUF, and UQCR) as well as glucose uptake. (cdc.gov)
  • According to the mitochondrial and nuclear gene genealogies, D. nanus and D. moiwanus are closely related and are sister to the continental species D. lunatus , whereas D. fujiama differentiated from an ancestor of the other three species. (bioone.org)
  • The nuclear gene genealogy suggests that isolated wetlands used by larval D. moiwanus derive from the ancestral riverine habitats of D. nanus and other Davidius species. (bioone.org)
  • Mitochondrial gene loss and functional transfer to the nucleus is an ongoing process in many lineages of plants, resulting in substantial variation across species in mitochondrial gene content. (biomedcentral.com)
  • High sequence divergence was observed for both genes even among sibling species. (irb.hr)
  • Mitochondrial membrane potential was decreased, and mitochondrial reactive oxygen species production was increased with the variant of m.3571_3572insC. (bvsalud.org)
  • This gene encodes one of the mitochondrial translation elongation factors. (nih.gov)
  • This gene encodes the cyclin-dependent kinase inhibitor p21(WAF1/Cip1), a factor implicated in cell cycle, senescence, and cancer. (ed.ac.uk)
  • A chromosome contains hundreds to thousands of genes. (msdmanuals.com)
  • The human mitochondrial ribosomal protein genes: mapping of 54 genes to the chromosomes and implications for human disorders. (nih.gov)
  • Chromosomes are structures within cells that contain a person's genes. (msdmanuals.com)
  • Genes are contained in chromosomes, which are in the cell nucleus. (msdmanuals.com)
  • Protein synthesis is controlled by genes, which are contained on chromosomes. (msdmanuals.com)
  • Chromosomes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic. (msdmanuals.com)
  • A chromosome contains many genes. (msdmanuals.com)
  • Most phenotypic manifestations in this syndrome reflect a contiguous gene syndrome, leading to a phenotypic map of chromosome arm 4p. (medscape.com)
  • p32/gC1qR is indispensable for fetal development and mitochondrial translation: importance of its RNA-binding ability. (nih.gov)
  • The advantage of customized gene synthesis is that the desired DNA can be custom designed according to research needs, not limited by traditional cloning methods. (mitochondriasci.com)
  • The protein encoded by this gene directs the termination of translation in response to the peptide chain termination codons. (wikipedia.org)
  • Angiosperm mitochondrial genomes also contain numerous introns, some of which have been split such that the resulting gene fragments must be transcribed separately and then trans- spliced together [ 7 ]. (biomedcentral.com)