4509
112-395: 17706 ENSG00000228253 ENSMUSG00000064356 P03928 P03930 n/a n/a n/a NP_904332 MT-ATP8 (or ATP8 ) is a mitochondrial gene with the full name 'mitochondrially encoded ATP synthase membrane subunit 8' that encodes a subunit of mitochondrial ATP synthase , ATP synthase F o subunit 8 (or subunit A6L ). This subunit belongs to the F o complex of
224-399: A gastrula with a digestive chamber and two separate germ layers , an external ectoderm and an internal endoderm . In most cases, a third germ layer, the mesoderm , also develops between them. These germ layers then differentiate to form tissues and organs. Repeated instances of mating with a close relative during sexual reproduction generally leads to inbreeding depression within
336-460: A characteristic pattern of facial features, including a high forehead, curved eyebrows, outside corners of the eyes that point downward (downslanting palpebral fissures ), a prominent bridge of the nose, low-set ears, thin lips, and a small chin ( micrognathia ). Infantile hypertrophic cardiomyopathy (CMHI) is also caused by mutations affecting distinct genetic loci , including MT-ATP6 and MT-ATP8. An infantile form of hypertrophic cardiomyopathy ,
448-507: A circular mitochondrial genome. Medusozoa and calcarea clades however include species with linear mitochondrial chromosomes. With a few exceptions, animals have 37 genes in their mitochondrial DNA: 13 for proteins , 22 for tRNAs , and 2 for rRNAs . Mitochondrial genomes for animals average about 16,000 base pairs in length. The anemone Isarachnanthus nocturnus has the largest mitochondrial genome of any animal at 80,923 bp. The smallest known mitochondrial genome in animals belongs to
560-770: A clade Xenambulacraria for the Xenacoelamorpha + Ambulacraria; this is either within Deuterostomia, as sister to Chordata, or the Deuterostomia are recovered as paraphyletic, and Xenambulacraria is sister to the proposed clade Centroneuralia , consisting of Chordata + Protostomia. Several animal phyla lack bilateral symmetry. These are the Porifera (sea sponges), Placozoa , Cnidaria (which includes jellyfish , sea anemones , and corals), and Ctenophora (comb jellies). Sponges are physically very distinct from other animals, and were long thought to have diverged first, representing
672-585: A database) to determine maternal lineage. Most often, the comparison is made with the revised Cambridge Reference Sequence . Vilà et al. have published studies tracing the matrilineal descent of domestic dogs from wolves. The concept of the Mitochondrial Eve is based on the same type of analysis, attempting to discover the origin of humanity by tracking the lineage back in time. Entities subject to uniparental inheritance and with little to no recombination may be expected to be subject to Muller's ratchet ,
784-500: A donor female, and nuclear DNA from the mother and father. In the spindle transfer procedure, the nucleus of an egg is inserted into the cytoplasm of an egg from a donor female which has had its nucleus removed, but still contains the donor female's mtDNA. The composite egg is then fertilized with the male's sperm. The procedure is used when a woman with genetically defective mitochondria wishes to procreate and produce offspring with healthy mitochondria. The first known child to be born as
896-435: A finding that has been rejected by other scientists. In sexual reproduction , mitochondria are normally inherited exclusively from the mother; the mitochondria in mammalian sperm are usually destroyed by the egg cell after fertilization. Also, mitochondria are present solely in the midpiece, which is used for propelling the sperm cells, and sometimes the midpiece, along with the tail, is lost during fertilization. In 1999 it
1008-456: A frameshift mutation in MT-ATP6. This causes a C insertion at position 8612 that results in a truncated protein only 36 amino acids long, and two T > C single-nucleotide polymorphisms at positions 8610 and 8614 that result in a homopolymeric cytosine stretch. Hypertrophic cardiomyopathy , a common feature of mitochondrial complex V deficiency, is characterized by thickening ( hypertrophy ) of
1120-434: A genome suggests that complete gene loss is possible, and transferring mitochondrial genes to the nucleus has several advantages. The difficulty of targeting remotely-produced hydrophobic protein products to the mitochondrion is one hypothesis for why some genes are retained in mtDNA; colocalisation for redox regulation is another, citing the desirability of localised control over mitochondrial machinery. Recent analysis of
1232-468: A head end (anterior) and a tail end (posterior), a back (dorsal) surface and a belly (ventral) surface, and a left and a right side. Having a front end means that this part of the body encounters stimuli, such as food, favouring cephalisation , the development of a head with sense organs and a mouth. Many bilaterians have a combination of circular muscles that constrict the body, making it longer, and an opposing set of longitudinal muscles, that shorten
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#17331154978161344-545: A healthy human sperm has been reported to contain on average 5 molecules), degradation of sperm mtDNA in the male genital tract and in the fertilized egg; and, at least in a few organisms, failure of sperm mtDNA to enter the egg. Whatever the mechanism, this single parent ( uniparental inheritance ) pattern of mtDNA inheritance is found in most animals, most plants and also in fungi. In a study published in 2018, human babies were reported to inherit mtDNA from both their fathers and their mothers resulting in mtDNA heteroplasmy ,
1456-463: A heart disorder characterized by ventricular hypertrophy , which is usually asymmetric and often involves the interventricular septum . The symptoms include dyspnea , syncope , collapse, palpitations , and chest pain . They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death . This article incorporates text from
1568-658: A hollow sphere of cells, the blastula , during embryonic development . Animals form a clade , meaning that they arose from a single common ancestor . Over 1.5 million living animal species have been described , of which around 1.05 million are insects , over 85,000 are molluscs , and around 65,000 are vertebrates . It has been estimated there are as many as 7.77 million animal species on Earth. Animal body lengths range from 8.5 μm (0.00033 in) to 33.6 m (110 ft). They have complex ecologies and interactions with each other and their environments, forming intricate food webs . The scientific study of animals
1680-796: A lower percentage of mitochondria with the mutation, typically 70 percent to 90 percent. Because these two conditions result from the same genetic changes and can occur in different members of a single family, researchers believe that they may represent a spectrum of overlapping features instead of two distinct syndromes. Mitochondrial complex V deficiency presents with heterogeneous clinical manifestations including neuropathy , ataxia , hypertrophic cardiomyopathy . Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy , minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course. Mitochondrial complex V deficiency
1792-405: A mainstay of phylogenetics and evolutionary biology . It also permits tracing the relationships of populations, and so has become important in anthropology and biogeography . Nuclear and mitochondrial DNA are thought to have separate evolutionary origins, with the mtDNA derived from the circular genomes of bacteria engulfed by the ancestors of modern eukaryotic cells. This theory is called
1904-471: A molecule called adenosine diphosphate (ADP) to ATP . Subunit 8 differs in sequence between Metazoa , plants and Fungi . The ATP synthase protein 8 of human and other mammals is encoded in the mitochondrial genome by the MT-ATP8 gene . When the complete human mitochondrial genome was first published, the MT-ATP8 gene was described as the unidentified reading frame URF A6L . An unusual feature of
2016-542: A mutation in mtDNA has been used to help diagnose prostate cancer in patients with negative prostate biopsy . mtDNA alterations can be detected in the bio-fluids of patients with cancer. mtDNA is characterized by the high rate of polymorphisms and mutations. Some of which are increasingly recognized as an important cause of human pathology such as oxidative phosphorylation (OXPHOS) disorders, maternally inherited diabetes and deafness (MIDD), Type 2 diabetes mellitus, Neurodegenerative disease , heart failure and cancer. Though
2128-626: A mutational (contrary to the selective one) explanation for the observation that long-lived species have GC-rich mtDNA: long-lived species become GC-rich simply because of their biased process of mutagenesis. An association between mtDNA mutational spectrum and species-specific life-history traits in mammals opens a possibility to link these factors together discovering new life-history-specific mutagens in different groups of organisms. Deletion breakpoints frequently occur within or near regions showing non-canonical (non-B) conformations, namely hairpins, cruciforms and cloverleaf-like elements. Moreover, there
2240-1105: A population due to the increased prevalence of harmful recessive traits. Animals have evolved numerous mechanisms for avoiding close inbreeding . Some animals are capable of asexual reproduction , which often results in a genetic clone of the parent. This may take place through fragmentation ; budding , such as in Hydra and other cnidarians ; or parthenogenesis , where fertile eggs are produced without mating , such as in aphids . Animals are categorised into ecological groups depending on their trophic levels and how they consume organic material . Such groupings include carnivores (further divided into subcategories such as piscivores , insectivores , ovivores , etc.), herbivores (subcategorised into folivores , graminivores , frugivores , granivores , nectarivores , algivores , etc.), omnivores , fungivores , scavengers / detritivores , and parasites . Interactions between animals of each biome form complex food webs within that ecosystem . In carnivorous or omnivorous species, predation
2352-521: A result of mitochondrial donation was a boy born to a Jordanian couple in Mexico on 6 April 2016. The concept that mtDNA is particularly susceptible to reactive oxygen species generated by the respiratory chain due to its proximity remains controversial. mtDNA does not accumulate any more oxidative base damage than nuclear DNA. It has been reported that at least some types of oxidative DNA damage are repaired more efficiently in mitochondria than they are in
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#17331154978162464-507: A role in the mitochondrial bottleneck, exploiting cell-to-cell variability to ameliorate the inheritance of damaging mutations. According to Justin St. John and colleagues, "At the blastocyst stage, the onset of mtDNA replication is specific to the cells of the trophectoderm . In contrast, the cells of the inner cell mass restrict mtDNA replication until they receive the signals to differentiate to specific cell types." The two strands of
2576-439: A single opening, which serves as both mouth and anus. Animals in both phyla have distinct tissues, but these are not organised into discrete organs . They are diploblastic , having only two main germ layers, ectoderm and endoderm. The tiny placozoans have no permanent digestive chamber and no symmetry; they superficially resemble amoebae. Their phylogeny is poorly defined, and under active research. The remaining animals,
2688-435: A species and also for identifying and quantifying the phylogeny (evolutionary relationships; see phylogenetics ) among different species. To do this, biologists determine and then compare the mtDNA sequences from different individuals or species. Data from the comparisons is used to construct a network of relationships among the sequences, which provides an estimate of the relationships among the individuals or species from which
2800-623: A stabilisation or reduction in mutant load between generations. The mechanism underlying the bottleneck is debated, with a recent mathematical and experimental metastudy providing evidence for a combination of the random partitioning of mtDNAs at cell divisions and the random turnover of mtDNA molecules within the cell. Male mitochondrial DNA inheritance has been discovered in Plymouth Rock chickens . Evidence supports rare instances of male mitochondrial inheritance in some mammals as well. Specifically, documented occurrences exist for mice, where
2912-406: A stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. The MT-ATP8 gene encodes a subunit of mitochondrial ATP synthase , located within the thylakoid membrane and
3024-499: A subscript letter "o", not "zero") derives its name from being the binding fraction for oligomycin , a type of naturally-derived antibiotic that is able to inhibit the F o unit of ATP synthase. The F o region of ATP synthase is a proton pore that is embedded in the mitochondrial membrane. It consists of three main subunits A, B, and C, and (in humans) six additional subunits, d , e , f , g , MT-ATP6 (or F6), and MT-ATP8 (or A6L). 3D structure of E. coli homologue of this subunit
3136-448: A wide range of mtDNA genomes suggests that both these features may dictate mitochondrial gene retention. Across all organisms, there are six main mitochondrial genome types, classified by structure (i.e. circular versus linear), size, presence of introns or plasmid like structures , and whether the genetic material is a singular molecule or collection of homogeneous or heterogeneous molecules. In many unicellular organisms (e.g.,
3248-464: Is a consumer–resource interaction where the predator feeds on another organism, its prey , who often evolves anti-predator adaptations to avoid being fed upon. Selective pressures imposed on one another lead to an evolutionary arms race between predator and prey, resulting in various antagonistic/ competitive coevolutions . Almost all multicellular predators are animals. Some consumers use multiple methods; for example, in parasitoid wasps ,
3360-532: Is a linear genome made up of homogeneous DNA molecules (type 5). Great variation in mtDNA gene content and size exists among fungi and plants, although there appears to be a core subset of genes present in all eukaryotes (except for the few that have no mitochondria at all). In Fungi, however, there is no single gene shared among all mitogenomes. Some plant species have enormous mitochondrial genomes, with Silene conica mtDNA containing as many as 11,300,000 base pairs. Surprisingly, even those huge mtDNAs contain
3472-521: Is a shortage (deficiency) or loss of function in complex V of the electron transport chain that can cause a wide variety of signs and symptoms affecting many organs and systems of the body, particularly the nervous system and the heart . The disorder can be life-threatening in infancy or early childhood. Affected individuals may have feeding problems, slow growth, low muscle tone ( hypotonia ), extreme fatigue ( lethargy ), and developmental delay . They tend to develop elevated levels of lactic acid in
MT-ATP8 - Misplaced Pages Continue
3584-433: Is a stage in embryonic development that is unique to animals, allowing cells to be differentiated into specialised tissues and organs. All animals are composed of cells, surrounded by a characteristic extracellular matrix composed of collagen and elastic glycoproteins . During development, the animal extracellular matrix forms a relatively flexible framework upon which cells can move about and be reorganised, making
3696-467: Is a well-established marker of oxidative DNA damage. In persons with amyotrophic lateral sclerosis (ALS), the enzymes that normally repair 8-oxoG DNA damages in the mtDNA of spinal motor neurons are impaired. Thus oxidative damage to mtDNA of motor neurons may be a significant factor in the etiology of ALS. Over the past decade, an Israeli research group led by Professor Vadim Fraifeld has shown that strong and significant correlations exist between
3808-487: Is data supporting the involvement of helix-distorting intrinsically curved regions and long G-tetrads in eliciting instability events. In addition, higher breakpoint densities were consistently observed within GC-skewed regions and in the close vicinity of the degenerate sequence motif YMMYMNNMMHM. Unlike nuclear DNA, which is inherited from both parents and in which genes are rearranged in the process of recombination , there
3920-458: Is disputed, as they might be water-escape or other structures. Animals are monophyletic , meaning they are derived from a common ancestor. Animals are the sister group to the choanoflagellates , with which they form the Choanozoa . The dates on the phylogenetic tree indicate approximately how many millions of years ago ( mya ) the lineages split. Ros-Rocher and colleagues (2021) trace
4032-414: Is known as zoology , and the study of animal behaviour is known as ethology . The animal kingdom is divided into five infrakingdoms / superphyla , namely Porifera , Ctenophora , Placozoa , Cnidaria and Bilateria . Most living animal species belong to the infrakingdom Bilateria, a highly proliferative clade whose members have a bilaterally symmetric and significantly cephalised body plan , and
4144-514: Is observed in bivalve mollusks. In those species, females have only one type of mtDNA (F), whereas males have F type mtDNA in their somatic cells, but M type of mtDNA (which can be as much as 30% divergent) in germline cells. Paternally inherited mitochondria have additionally been reported in some insects such as fruit flies , honeybees , and periodical cicadas . An IVF technique known as mitochondrial donation or mitochondrial replacement therapy (MRT) results in offspring containing mtDNA from
4256-822: Is often used to refer only to nonhuman animals. The term metazoa is derived from Ancient Greek μετα meta 'after' (in biology, the prefix meta- stands for 'later') and ζῷᾰ zōia 'animals', plural of ζῷον zōion 'animal'. Animals have several characteristics that set them apart from other living things. Animals are eukaryotic and multicellular . Unlike plants and algae , which produce their own nutrients , animals are heterotrophic , feeding on organic material and digesting it internally. With very few exceptions, animals respire aerobically . All animals are motile (able to spontaneously move their bodies) during at least part of their life cycle , but some animals, such as sponges , corals , mussels , and barnacles , later become sessile . The blastula
4368-422: Is only produced by sponges and pelagophyte algae. Its likely origin is from sponges based on molecular clock estimates for the origin of 24-ipc production in both groups. Analyses of pelagophyte algae consistently recover a Phanerozoic origin, while analyses of sponges recover a Neoproterozoic origin, consistent with the appearance of 24-ipc in the fossil record. The first body fossils of animals appear in
4480-540: Is severely degraded. Autosomal cells only have two copies of nuclear DNA, but can have hundreds of copies of mtDNA due to the multiple mitochondria present in each cell. This means highly degraded evidence that would not be beneficial for STR analysis could be used in mtDNA analysis. mtDNA may be present in bones, teeth, or hair, which could be the only remains left in the case of severe degradation. In contrast to STR analysis, mtDNA sequencing uses Sanger sequencing . The known sequence and questioned sequence are both compared to
4592-485: Is the first multicellular organism known to have this absence of aerobic respiration and live completely free of oxygen dependency. There are three different mitochondrial genome types in plants and fungi. The first type is a circular genome that has introns (type 2) and may range from 19 to 1000 kbp in length. The second genome type is a circular genome (about 20–1000 kbp) that also has a plasmid-like structure (1 kb) (type 3). The final genome type found in plants and fungi
MT-ATP8 - Misplaced Pages Continue
4704-452: Is used in an analogous way to determine the patrilineal history.) This is usually accomplished on human mitochondrial DNA by sequencing the hypervariable control regions (HVR1 or HVR2), and sometimes the complete molecule of the mitochondrial DNA, as a genealogical DNA test . HVR1, for example, consists of about 440 base pairs. These 440 base pairs are compared to the same regions of other individuals (either specific people or subjects in
4816-510: Is usually no change in mtDNA from parent to offspring. Although mtDNA also recombines, it does so with copies of itself within the same mitochondrion. Because of this and because the mutation rate of animal mtDNA is higher than that of nuclear DNA, mtDNA is a powerful tool for tracking ancestry through females ( matrilineage ) and has been used in this role to track the ancestry of many species back hundreds of generations. mtDNA testing can be used by forensic scientists in cases where nuclear DNA
4928-517: The POLG2 gene. The replisome machinery is formed by DNA polymerase, TWINKLE and mitochondrial SSB proteins . TWINKLE is a helicase , which unwinds short stretches of dsDNA in the 5' to 3' direction. All these polypeptides are encoded in the nuclear genome. During embryogenesis , replication of mtDNA is strictly down-regulated from the fertilized oocyte through the preimplantation embryo. The resulting reduction in per-cell copy number of mtDNA plays
5040-614: The Ediacaran , represented by forms such as Charnia and Spriggina . It had long been doubted whether these fossils truly represented animals, but the discovery of the animal lipid cholesterol in fossils of Dickinsonia establishes their nature. Animals are thought to have originated under low-oxygen conditions, suggesting that they were capable of living entirely by anaerobic respiration , but as they became specialised for aerobic metabolism they became fully dependent on oxygen in their environments. Many animal phyla first appear in
5152-563: The MT-ATP8 gene is its 46-nucleotide overlap with the MT-ATP6 gene. With respect to the reading frame (+1) of MT-ATP8 , the MT-ATP6 gene starts on the +3 reading frame. The MT-ATP8 protein weighs 8 kDa and is composed of 68 amino acids . The protein is a subunit of the F 1 F o ATPase, also known as Complex V , which consists of 14 nuclear- and 2 mitochondrial-encoded subunits. F-type ATPases consist of two structural domains, F 1 containing
5264-565: The United States National Library of Medicine , which is in the public domain . Mitochondrial gene Mitochondrial DNA ( mtDNA and mDNA ) is the DNA located in the mitochondria organelles in a eukaryotic cell that converts chemical energy from food into adenosine triphosphate (ATP). Mitochondrial DNA is a small portion of the DNA contained in a eukaryotic cell; most of
5376-435: The cardiac muscle that can lead to heart failure . The m.8528T>C mutation occurs in the overlapping region of the MT-ATP6 and MT-ATP8 genes and has been described in multiple patients with infantile cardiomyopathy. This mutation changes the initiation codon in MT-ATP6 to threonine as well as a change from tryptophan to arginine at position 55 of MT-ATP8. Individuals with mitochondrial complex V deficiency may also have
5488-518: The ciliate Tetrahymena and the green alga Chlamydomonas reinhardtii ), and in rare cases also in multicellular organisms (e.g. in some species of Cnidaria ), the mtDNA is linear DNA . Most of these linear mtDNAs possess telomerase -independent telomeres (i.e., the ends of the linear DNA ) with different modes of replication, which have made them interesting objects of research because many of these unicellular organisms with linear mtDNA are known pathogens . Most ( bilaterian ) animals have
5600-499: The endosymbiotic theory . In the cells of extant organisms, the vast majority of the proteins in the mitochondria (numbering approximately 1500 different types in mammals ) are coded by nuclear DNA , but the genes for some, if not most, of them are thought to be of bacterial origin, having been transferred to the eukaryotic nucleus during evolution . The reasons mitochondria have retained some genes are debated. The existence in some species of mitochondrion-derived organelles lacking
5712-665: The evolutionary relationships between taxa . Humans make use of many other animal species for food (including meat , eggs , and dairy products ), for materials (such as leather , fur , and wool ), as pets and as working animals for transportation , and services . Dogs , the first domesticated animal, have been used in hunting , in security and in warfare , as have horses , pigeons and birds of prey ; while other terrestrial and aquatic animals are hunted for sports, trophies or profits. Non-human animals are also an important cultural element of human evolution , having appeared in cave arts and totems since
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#17331154978165824-518: The fossil record during the Cambrian explosion , starting about 539 million years ago, in beds such as the Burgess shale . Extant phyla in these rocks include molluscs , brachiopods , onychophorans , tardigrades , arthropods , echinoderms and hemichordates , along with numerous now-extinct forms such as the predatory Anomalocaris . The apparent suddenness of the event may however be an artefact of
5936-463: The inner mitochondrial membrane . Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation . The F o region causes rotation of F 1 , which has a water-soluble component that hydrolyzes ATP and together, the F 1 F o creates a pathway for movement of protons across the membrane. This protein subunit appears to be an integral component of
6048-497: The lobe-finned fish Tiktaalik started to move on to land in the late Devonian , about 375 million years ago. Animals occupy virtually all of earth's habitats and microhabitats, with faunas adapted to salt water, hydrothermal vents, fresh water, hot springs, swamps, forests, pastures, deserts, air, and the interiors of other organisms. Animals are however not particularly heat tolerant ; very few of them can survive at constant temperatures above 50 °C (122 °F) or in
6160-661: The 1998 United States court case of Commonwealth of Pennsylvania v. Patricia Lynne Rorrer, mitochondrial DNA was admitted into evidence in the State of Pennsylvania for the first time. The case was featured in episode 55 of season 5 of the true crime drama series Forensic Files (season 5) . Metazoa Animals are multicellular , eukaryotic organisms in the biological kingdom Animalia ( / ˌ æ n ɪ ˈ m eɪ l i ə / ). With few exceptions, animals consume organic material , breathe oxygen , have myocytes and are able to move , can reproduce sexually , and grow from
6272-698: The Cambrian explosion, possibly as early as 1 billion years ago. Early fossils that might represent animals appear for example in the 665-million-year-old rocks of the Trezona Formation of South Australia . These fossils are interpreted as most probably being early sponges . Trace fossils such as tracks and burrows found in the Tonian period (from 1 gya) may indicate the presence of triploblastic worm-like animals, roughly as large (about 5 mm wide) and complex as earthworms. However, similar tracks are produced by
6384-712: The Cnidaria) never grow larger than 20 μm , and one of the smallest species ( Myxobolus shekel ) is no more than 8.5 μm when fully grown. The following table lists estimated numbers of described extant species for the major animal phyla, along with their principal habitats (terrestrial, fresh water, and marine), and free-living or parasitic ways of life. Species estimates shown here are based on numbers described scientifically; much larger estimates have been calculated based on various means of prediction, and these can vary wildly. For instance, around 25,000–27,000 species of nematodes have been described, while published estimates of
6496-498: The DNA is in the cell nucleus , and, in plants and algae, the DNA also is found in plastids , such as chloroplasts . Human mitochondrial DNA was the first significant part of the human genome to be sequenced. This sequencing revealed that human mtDNA has 16,569 base pairs and encodes 13 proteins . As in other vertebrates, the human mitochondrial genetic code differs slightly from nuclear DNA. Since animal mtDNA evolves faster than nuclear genetic markers, it represents
6608-558: The Revised Cambridge Reference Sequence to generate their respective haplotypes. If the known sample sequence and questioned sequence originated from the same matriline, one would expect to see identical sequences and identical differences from the rCRS. Cases arise where there are no known samples to collect and the unknown sequence can be searched in a database such as EMPOP. The Scientific Working Group on DNA Analysis Methods recommends three conclusions for describing
6720-543: The accumulation of deleterious mutations until functionality is lost. Animal populations of mitochondria avoid this through a developmental process known as the mtDNA bottleneck . The bottleneck exploits random processes in the cell to increase the cell-to-cell variability in mutant load as an organism develops: a single egg cell with some proportion of mutant mtDNA thus produces an embryo in which different cells have different mutant loads. Cell-level selection may then act to remove those cells with more mutant mtDNA, leading to
6832-419: The accumulation of mtDNA damage in several organs of rats. For example, dietary restriction prevented age-related accumulation of mtDNA damage in the cortex and decreased it in the lung and testis. Increased mt DNA damage is a feature of several neurodegenerative diseases . The brains of individuals with Alzheimer's disease have elevated levels of oxidative DNA damage in both nuclear DNA and mtDNA, but
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#17331154978166944-401: The blood ( lactic acidosis ), which can cause nausea, vomiting, weakness, and rapid breathing. High levels of ammonia in the blood ( hyperammonemia ) can also occur in affected individuals, and in some cases result in abnormal brain function ( encephalopathy ) and damage to other organs. Ataxia , microcephaly , developmental delay and intellectual disability have been observed in patients with
7056-472: The body's cells contain thousands of mitochondria, each with one or more copies of mitochondrial DNA . The severity of some mitochondrial disorders is associated with the percentage of mitochondria in each cell that has a particular genetic change. People with Leigh syndrome due to a MT-ATP6 gene mutation tend to have a very high percentage of mitochondria with the mutation (from more than 90 percent to 95 percent). The less-severe features of NARP result from
7168-456: The coding instructions for some proteins, which may have an effect on organism metabolism and/or fitness. Mutations of mitochondrial DNA can lead to a number of illnesses including exercise intolerance and Kearns–Sayre syndrome (KSS), which causes a person to lose full function of heart, eye, and muscle movements. Some evidence suggests that they might be major contributors to the aging process and age-associated pathologies . Particularly in
7280-434: The comb jelly Vallicula multiformis , which consist of 9,961 bp. In February 2020, a jellyfish-related parasite – Henneguya salminicola – was discovered that lacks a mitochondrial genome but retains structures deemed mitochondrion-related organelles. Moreover, nuclear DNA genes involved in aerobic respiration and in mitochondrial DNA replication and transcription were either absent or present only as pseudogenes . This
7392-714: The context of disease, the proportion of mutant mtDNA molecules in a cell is termed heteroplasmy . The within-cell and between-cell distributions of heteroplasmy dictate the onset and severity of disease and are influenced by complicated stochastic processes within the cell and during development. Mutations in mitochondrial tRNAs can be responsible for severe diseases like the MELAS and MERRF syndromes. Mutations in nuclear genes that encode proteins that mitochondria use can also contribute to mitochondrial diseases. These diseases do not follow mitochondrial inheritance patterns, but instead follow Mendelian inheritance patterns. Recently
7504-456: The dark sea floor consume organic matter produced through chemosynthesis (via oxidising inorganic compounds such as hydrogen sulfide ) by archaea and bacteria . Animals evolved in the sea. Lineages of arthropods colonised land around the same time as land plants , probably between 510 and 471 million years ago during the Late Cambrian or Early Ordovician . Vertebrates such as
7616-403: The differences between a known mtDNA sequence and a questioned mtDNA sequence: exclusion for two or more differences between the sequences, inconclusive if there is one nucleotide difference, or cannot exclude if there are no nucleotide differences between the two sequences. The rapid mutation rate (in animals) makes mtDNA useful for assessing genetic relationships of individuals or groups within
7728-626: The differences in animal species maximum life spans in a multiplicative manner (i.e., species maximum life span = their mtDNA GC% * metabolic rate). To support the scientific community in carrying out comparative analyses between mtDNA features and longevity across animals, a dedicated database was built named MitoAge . De novo mutations arise either due to mistakes during DNA replication or due to unrepaired damage caused in turn by endogenous and exogenous mutagens. It has been long believed that mtDNA can be particularly sensitive to damage caused by reactive oxygen species (ROS), however G>T substitutions,
7840-450: The earliest times, and are frequently featured in mythology , religion , arts , literature , heraldry , politics , and sports . The word animal comes from the Latin noun animal of the same meaning, which is itself derived from Latin animalis 'having breath or soul'. The biological definition includes all members of the kingdom Animalia. In colloquial usage, the term animal
7952-430: The extramembraneous catalytic core and F o containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. As an A subunit, MT-ATP8 is contained within the non-catalytic, transmembrane F o portion of the complex, comprising the proton channel . The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with
8064-565: The first hierarchical biological classification for animals in 1758 with his Systema Naturae , which Jean-Baptiste Lamarck expanded into 14 phyla by 1809. In 1874, Ernst Haeckel divided the animal kingdom into the multicellular Metazoa (now synonymous with Animalia) and the Protozoa , single-celled organisms no longer considered animals. In modern times, the biological classification of animals relies on advanced techniques, such as molecular phylogenetics , which are effective at demonstrating
8176-448: The formation of complex structures possible. This may be calcified, forming structures such as shells , bones , and spicules . In contrast, the cells of other multicellular organisms (primarily algae, plants, and fungi ) are held in place by cell walls, and so develop by progressive growth. Animal cells uniquely possess the cell junctions called tight junctions , gap junctions , and desmosomes . With few exceptions—in particular,
8288-600: The fossil record as marine species during the Cambrian explosion , which began around 539 million years ago (Mya), and most classes during the Ordovician radiation 485.4 Mya. 6,331 groups of genes common to all living animals have been identified; these may have arisen from a single common ancestor that lived about 650 Mya during the Cryogenian period. Historically, Aristotle divided animals into those with blood and those without . Carl Linnaeus created
8400-535: The fossil record in the late Cryogenian period and diversified in the subsequent Ediacaran period in what is known as the Avalon explosion . Earlier evidence of animals is still controversial; the sponge -like organism Otavia has been dated back to the Tonian period at the start of the Neoproterozoic , but its identity as an animal is heavily contested. Nearly all modern animal phyla became clearly established in
8512-520: The fossil record, rather than showing that all these animals appeared simultaneously. That view is supported by the discovery of Auroralumina attenboroughii , the earliest known Ediacaran crown-group cnidarian (557–562 mya, some 20 million years before the Cambrian explosion) from Charnwood Forest , England. It is thought to be one of the earliest predators , catching small prey with its nematocysts as modern cnidarians do. Some palaeontologists have suggested that animals appeared much earlier than
8624-403: The genetic distances of distantly related species. Statistical models that treat substitution rates among codon positions separately, can thus be used to simultaneously estimate phylogenies that contain both closely and distantly related species Mitochondrial DNA was admitted into evidence for the first time ever in a United States courtroom in 1996 during State of Tennessee v. Paul Ware . In
8736-721: The giant single-celled protist Gromia sphaerica , so the Tonian trace fossils may not indicate early animal evolution. Around the same time, the layered mats of microorganisms called stromatolites decreased in diversity, perhaps due to grazing by newly evolved animals. Objects such as sediment-filled tubes that resemble trace fossils of the burrows of wormlike animals have been found in 1.2 gya rocks in North America, in 1.5 gya rocks in Australia and North America, and in 1.7 gya rocks in Australia. Their interpretation as having an animal origin
8848-461: The great majority—comprising some 29 phyla and over a million species—form the Bilateria clade , which have a bilaterally symmetric body plan . The Bilateria are triploblastic , with three well-developed germ layers, and their tissues form distinct organs . The digestive chamber has two openings, a mouth and an anus, and there is an internal body cavity, a coelom or pseudocoelom. These animals have
8960-477: The hallmark of the oxidative damage in the nuclear genome, are very rare in mtDNA and do not increase with age. Comparing the mtDNA mutational spectra of hundreds of mammalian species, it has been recently demonstrated that species with extended lifespans have an increased rate of A>G substitutions on single-stranded heavy chain. This discovery led to the hypothesis that A>G is a mitochondria-specific marker of age-associated oxidative damage. This finding provides
9072-421: The human mitochondrial DNA are distinguished as the heavy strand and the light strand. The heavy strand is rich in guanine and encodes 12 subunits of the oxidative phosphorylation system, two ribosomal RNAs (12S and 16S), and 14 transfer RNAs (tRNAs). The light strand encodes one subunit, and 8 tRNAs. So, altogether mtDNA encodes for two rRNAs, 22 tRNAs, and 13 protein subunits , all of which are involved in
9184-524: The idea is controversial, some evidence suggests a link between aging and mitochondrial genome dysfunction. In essence, mutations in mtDNA upset a careful balance of reactive oxygen species (ROS) production and enzymatic ROS scavenging (by enzymes like superoxide dismutase , catalase , glutathione peroxidase and others). However, some mutations that increase ROS production (e.g., by reducing antioxidant defenses) in worms increase, rather than decrease, their longevity. Also, naked mole rats , rodents about
9296-462: The initiation of the transcription of the heavy and light strands are located in the main non-coding region of the mtDNA called the displacement loop, the D-loop . There is evidence that the transcription of the mitochondrial rRNAs is regulated by the heavy-strand promoter 1 (HSP1), and the transcription of the polycistronic transcripts coding for the protein subunits are regulated by HSP2. Measurement of
9408-432: The large, transmembrane F-type ATP synthase . This enzyme, which is also known as complex V, is responsible for the final step of oxidative phosphorylation in the electron transport chain . Specifically, one segment of ATP synthase allows positively charged ions , called protons , to flow across a specialized membrane inside mitochondria. Another segment of the enzyme uses the energy created by this proton flow to convert
9520-441: The larvae feed on the hosts' living tissues, killing them in the process, but the adults primarily consume nectar from flowers. Other animals may have very specific feeding behaviours , such as hawksbill sea turtles which mainly eat sponges . Most animals rely on biomass and bioenergy produced by plants and phytoplanktons (collectively called producers ) through photosynthesis . Herbivores, as primary consumers , eat
9632-415: The levels of the mtDNA-encoded RNAs in bovine tissues has shown that there are major differences in the expression of the mitochondrial RNAs relative to total tissue RNA. Among the 12 tissues examined the highest level of expression was observed in heart, followed by brain and steroidogenic tissue samples. As demonstrated by the effect of the trophic hormone ACTH on adrenal cortex cells, the expression of
9744-443: The longevity of species. The application of a mitochondrial-specific ROS scavenger, which lead to a significant longevity of the mice studied, suggests that mitochondria may still be well-implicated in ageing. Extensive research is being conducted to further investigate this link and methods to combat ageing. Presently, gene therapy and nutraceutical supplementation are popular areas of ongoing research. Bjelakovic et al. analyzed
9856-424: The male-inherited mitochondria were subsequently rejected. It has also been found in sheep, and in cloned cattle. Rare cases of male mitochondrial inheritance have been documented in humans. Although many of these cases involve cloned embryos or subsequent rejection of the paternal mitochondria, others document in vivo inheritance and persistence under lab conditions. Doubly uniparental inheritance of mtDNA
9968-525: The mitochondrial genes may be strongly regulated by external factors, apparently to enhance the synthesis of mitochondrial proteins necessary for energy production. Interestingly, while the expression of protein-encoding genes was stimulated by ACTH, the levels of the mitochondrial 16S rRNA showed no significant change. In most multicellular organisms , mtDNA is inherited from the mother (maternally inherited). Mechanisms for this include simple dilution (an egg contains on average 200,000 mtDNA molecules, whereas
10080-747: The most extreme cold deserts of continental Antarctica . The blue whale ( Balaenoptera musculus ) is the largest animal that has ever lived, weighing up to 190 tonnes and measuring up to 33.6 metres (110 ft) long. The largest extant terrestrial animal is the African bush elephant ( Loxodonta africana ), weighing up to 12.25 tonnes and measuring up to 10.67 metres (35.0 ft) long. The largest terrestrial animals that ever lived were titanosaur sauropod dinosaurs such as Argentinosaurus , which may have weighed as much as 73 tonnes, and Supersaurus which may have reached 39 metres. Several animals are microscopic; some Myxozoa ( obligate parasites within
10192-480: The mtDNA base composition and animal species-specific maximum life spans. As demonstrated in their work, higher mtDNA guanine + cytosine content ( GC% ) strongly associates with longer maximum life spans across animal species. An additional observation is that the mtDNA GC% correlation with the maximum life spans is independent of the well-known correlation between animal species metabolic rate and maximum life spans. The mtDNA GC% and resting metabolic rate explain
10304-833: The mtDNA has approximately 10-fold higher levels than nuclear DNA. It has been proposed that aged mitochondria is the critical factor in the origin of neurodegeneration in Alzheimer's disease. Analysis of the brains of AD patients suggested an impaired function of the DNA repair pathway, which would cause reduce the overall quality of mtDNA. In Huntington's disease , mutant huntingtin protein causes mitochondrial dysfunction involving inhibition of mitochondrial electron transport , higher levels of reactive oxygen species and increased oxidative stress . Mutant huntingtin protein promotes oxidative damage to mtDNA, as well as nuclear DNA, that may contribute to Huntington's disease pathology . The DNA oxidation product 8-oxoguanine (8-oxoG)
10416-558: The mtDNAs were taken. mtDNA can be used to estimate the relationship between both closely related and distantly related species. Due to the high mutation rate of mtDNA in animals, the 3rd positions of the codons change relatively rapidly, and thus provide information about the genetic distances among closely related individuals or species. On the other hand, the substitution rate of mt-proteins is very low, thus amino acid changes accumulate slowly (with corresponding slow changes at 1st and 2nd codon positions) and thus they provide information about
10528-472: The nucleus. mtDNA is packaged with proteins which appear to be as protective as proteins of the nuclear chromatin. Moreover, mitochondria evolved a unique mechanism which maintains mtDNA integrity through degradation of excessively damaged genomes followed by replication of intact/repaired mtDNA. This mechanism is not present in the nucleus and is enabled by multiple copies of mtDNA present in mitochondria. The outcome of mutation in mtDNA may be an alteration in
10640-620: The oldest animal phylum and forming a sister clade to all other animals. Despite their morphological dissimilarity with all other animals, genetic evidence suggests sponges may be more closely related to other animals than the comb jellies are. Sponges lack the complex organisation found in most other animal phyla; their cells are differentiated, but in most cases not organised into distinct tissues, unlike all other animals. They typically feed by drawing in water through pores, filtering out small particles of food. The comb jellies and Cnidaria are radially symmetric and have digestive chambers with
10752-528: The origins of animals to unicellular ancestors, providing the external phylogeny shown in the cladogram. Uncertainty of relationships is indicated with dashed lines. Holomycota (inc. fungi) [REDACTED] Ichthyosporea [REDACTED] Pluriformea [REDACTED] Filasterea [REDACTED] [REDACTED] [REDACTED] The most basal animals, the Porifera , Ctenophora , Cnidaria , and Placozoa , have body plans that lack bilateral symmetry . Their relationships have been disputed, as
10864-487: The oxidative phosphorylation process. Between most (but not all) protein-coding regions, tRNAs are present (see the human mitochondrial genome map ). During transcription, the tRNAs acquire their characteristic L-shape that gets recognized and cleaved by specific enzymes. With the mitochondrial RNA processing, individual mRNA, rRNA, and tRNA sequences are released from the primary transcript. Folded tRNAs therefore act as secondary structure punctuations. The promoters for
10976-466: The plant and fungal genomes also exist in some protists, as do two unique genome types. One of these unique types is a heterogeneous collection of circular DNA molecules (type 4) while the other is a heterogeneous collection of linear molecules (type 6). Genome types 4 and 6 each range from 1–200 kbp in size. The smallest mitochondrial genome sequenced to date is the 5,967 bp mtDNA of the parasite Plasmodium falciparum . Endosymbiotic gene transfer,
11088-518: The plant material directly to digest and absorb the nutrients, while carnivores and other animals on higher trophic levels indirectly acquire the nutrients by eating the herbivores or other animals that have eaten the herbivores. Animals oxidise carbohydrates , lipids , proteins and other biomolecules, which allows the animal to grow and to sustain basal metabolism and fuel other biological processes such as locomotion . Some benthic animals living close to hydrothermal vents and cold seeps on
11200-495: The process by which genes that were coded in the mitochondrial genome are transferred to the cell's main genome, likely explains why more complex organisms such as humans have smaller mitochondrial genomes than simpler organisms such as protists. Mitochondrial DNA is replicated by the DNA polymerase gamma complex which is composed of a 140 kDa catalytic DNA polymerase encoded by the POLG gene and two 55 kDa accessory subunits encoded by
11312-409: The results of 78 studies between 1977 and 2012, involving a total of 296,707 participants, and concluded that antioxidant supplements do not reduce all-cause mortality nor extend lifespan, while some of them, such as beta carotene, vitamin E, and higher doses of vitamin A, may actually increase mortality. In a recent study, it was shown that dietary restriction can reverse ageing alterations by affecting
11424-442: The same number and kinds of genes as related plants with much smaller mtDNAs. The genome of the mitochondrion of the cucumber ( Cucumis sativus ) consists of three circular chromosomes (lengths 1556, 84 and 45 kilobases), which are entirely or largely autonomous with regard to their replication . Protists contain the most diverse mitochondrial genomes, with five different types found in this kingdom. Type 2, type 3 and type 5 of
11536-1112: The sister group to all other animals could be the Porifera or the Ctenophora, both of which lack Hox genes , important for body plan development . Eumetazoa , a clade which contains Ctenophora and ParaHoxozoa , has been proposed as a sister group to Porifera . A competing hypothesis is the Benthozoa clade, which would consist of Porifera and ParaHoxozoa as a sister group of Ctenophora . In 2023, Darrin Schultz and colleagues studied ancient gene linkages to show that ctenophores are most likely sister to all other animals. Ctenophora [REDACTED] Porifera [REDACTED] Xenacoelomorpha [REDACTED] Ambulacraria [REDACTED] Chordata [REDACTED] Ecdysozoa [REDACTED] Spiralia [REDACTED] Placozoa [REDACTED] Cnidaria [REDACTED] A variant phylogeny, from Kapli and colleagues (2021), proposes
11648-500: The size of mice , live about eight times longer than mice despite having reduced, compared to mice, antioxidant defenses and increased oxidative damage to biomolecules. Once, there was thought to be a positive feedback loop at work (a 'Vicious Cycle'); as mitochondrial DNA accumulates genetic damage caused by free radicals, the mitochondria lose function and leak free radicals into the cytosol . A decrease in mitochondrial function reduces overall metabolic efficiency. However, this concept
11760-407: The smaller, motile gametes are spermatozoa and the larger, non-motile gametes are ova . These fuse to form zygotes , which develop via mitosis into a hollow sphere, called a blastula. In sponges, blastula larvae swim to a new location, attach to the seabed, and develop into a new sponge. In most other groups, the blastula undergoes more complicated rearrangement. It first invaginates to form
11872-474: The sponges and placozoans —animal bodies are differentiated into tissues . These include muscles , which enable locomotion, and nerve tissues , which transmit signals and coordinate the body. Typically, there is also an internal digestive chamber with either one opening (in Ctenophora, Cnidaria, and flatworms) or two openings (in most bilaterians). Nearly all animals make use of some form of sexual reproduction. They produce haploid gametes by meiosis ;
11984-524: The stator stalk in yeast mitochondrial F-ATPases . The stator stalk is anchored in the membrane , and acts to prevent futile rotation of the ATPase subunits relative to the rotor during coupled ATP synthesis/hydrolysis. This subunit may have an analogous function in Metazoa . The nomenclature of the enzyme has a long history. The F 1 fraction derives its name from the term "Fraction 1" and F o (written as
12096-467: The total number of nematode species include 10,000–20,000; 500,000; 10 million; and 100 million. Using patterns within the taxonomic hierarchy, the total number of animal species—including those not yet described—was calculated to be about 7.77 million in 2011. 3,000–6,500 4,000–25,000 Evidence of animals is found as long ago as the Cryogenian period. 24-Isopropylcholestane (24-ipc) has been found in rocks from roughly 650 million years ago; it
12208-493: The vast majority of bilaterians belong to two large superphyla : the protostomes , which includes organisms such as arthropods , molluscs , flatworms , annelids and nematodes ; and the deuterostomes , which include echinoderms , hemichordates and chordates , the latter of which contains the vertebrates . The much smaller basal phylum Xenacoelomorpha have an uncertain position within Bilateria. Animals first appear in
12320-410: Was conclusively disproved when it was demonstrated that mice, which were genetically altered to accumulate mtDNA mutations at accelerated rate do age prematurely, but their tissues do not produce more ROS as predicted by the 'Vicious Cycle' hypothesis. Supporting a link between longevity and mitochondrial DNA, some studies have found correlations between biochemical properties of the mitochondrial DNA and
12432-517: Was modeled based on electron microscopy data (chain M of PDB : 1c17 ). It forms a transmembrane 4-α-bundle. Mutations to MT-ATP8 and other genes affecting oxidative phosphorylation in the mitochondria have been associated with a variety of neurodegenerative and cardiovascular disorders, including mitochondrial complex V deficiency, Leber's hereditary optic neuropathy (LHON), mitochondrial encephalomyopathy with stroke-like episodes ( MELAS ), Leigh syndrome , and NARP syndrome . Most of
12544-460: Was reported that paternal sperm mitochondria (containing mtDNA) are marked with ubiquitin to select them for later destruction inside the embryo . Some in vitro fertilization techniques, particularly injecting a sperm into an oocyte , may interfere with this. The fact that mitochondrial DNA is mostly maternally inherited enables genealogical researchers to trace maternal lineage far back in time. ( Y-chromosomal DNA , paternally inherited,
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