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Human mitochondrial genetics

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Both cases can lead to deletions, rearrangements, and other mutations. Recent evidence has suggested that mitochondria have enzymes that proofread mtDNA and fix mutations that may occur due to free radicals. It is believed that a DNA recombinase found in mammalian cells is also involved in a repairing recombination process. Deletions and mutations due to free radicals have been associated with the aging process. It is believed that radicals cause mutations which lead to mutant proteins, which in turn led to more radicals. This process takes many years and is associated with some aging processes involved in oxygen-dependent tissues such as brain, heart, muscle, and kidney. Auto-enhancing processes such as these are possible causes of degenerative diseases including
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this strands is widespread, and appears to originate with an identification of the majority coding strand as the heavy in one influential article in 1999. 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 on the heavy strand code for mitochondrial tRNA molecules. Human mtDNA consists of 16,569 nucleotide pairs. The entire molecule is regulated by only one regulatory region which contains the origins of replication of both heavy and light strands. The entire human mitochondrial DNA molecule has been mapped.
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mitochondrion will occur in chromosomal DNA, which is inherited in a Mendelian pattern. Another result is that a chromosomal mutation will affect a specific tissue due to its specific needs, whether those may be high energy requirements or a need for the catabolism or anabolism of a specific neurotransmitter or nucleic acid. Because several copies of the mitochondrial genome are carried by each mitochondrion (2–10 in humans), mitochondrial mutations can be inherited maternally by mtDNA mutations which are present in mitochondria inside the
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been isolated. Mitochondria need a certain protein to undergo fission. If this protein (generated by the nucleus) is not present, the mitochondria grow but they do not divide. This leads to giant, inefficient mitochondria. Mistakes in chromosomal genes or their products can also affect mitochondrial replication more directly by inhibiting mitochondrial polymerase and can even cause mutations in the mtDNA directly and indirectly. Indirect mutations are most often caused by radicals created by defective proteins made from nuclear DNA.
418: 430:(diseases due to malfunction of mitochondria) can be inherited both maternally and through chromosomal inheritance, the way in which they are passed on from generation to generation can vary greatly depending on the disease. Mitochondrial genetic mutations that occur in the nuclear DNA can occur in any of the chromosomes (depending on the species). Mutations inherited through the chromosomes can be autosomal dominant or recessive and can also be sex-linked dominant or recessive. Chromosomal inheritance follows normal 1695:. When a certain tissue reaches a certain ratio of mutant versus wildtype mitochondria, a disease will present itself. The ratio varies from person to person and tissue to tissue (depending on its specific energy, oxygen, and metabolism requirements, and the effects of the specific mutation). Mitochondrial diseases are very numerous and different. Apart from diseases caused by abnormalities in mitochondrial DNA, many diseases are suspected to be associated in part by mitochondrial dysfunctions, such as 1687:) makes them very hard to accurately recognize, diagnose and trace. Some diseases are observable at or even before birth (many causing death) while others do not show themselves until late adulthood (late-onset disorders). This is because the number of mutant versus wildtype mitochondria varies between cells and tissues, and is continuously changing. Because cells have multiple mitochondria, different mitochondria in the same cell can have different variations of the 1588:. One strand begins to replicate first, displacing the other strand. This continues until replication reaches the origin of replication on the other strand, at which point the other strand begins replicating in the opposite direction. This results in two new mtDNA molecules. Each mitochondrion has several copies of the mtDNA molecule and the number of mtDNA molecules is a limiting factor in 438:
mitochondria or the cytoplasm; this may lead to slight, if any, noticeable symptoms. On the other hand, some devastating mtDNA mutations are easy to diagnose because of their widespread damage to muscular, neural, and/or hepatic tissues (among other high-energy and metabolism-dependent tissues) and because they are present in the mother and all the offspring.
1525:, or one long transcript. The production of primers occurs by processing of light strand transcripts with the Mitochondrial RNase MRP (Mitochondrial RNA Processing). The requirement of transcription to produce primers links the process of transcription to mtDNA replication. Full length transcripts are cut into functional tRNA, rRNA, and mRNA molecules. 2890:
Courtenay, Monique D.; Gilbert, John R.; Jiang, Lan; Cummings, Anna C.; Gallins, Paul J.; Caywood, Laura; Reinhart-Mercer, Lori; Fuzzell, Denise; Knebusch, Claire; Laux, Renee; McCauley, Jacob L.; Jackson, Charles E.; Pericak-Vance, Margaret A.; Haines, Jonathan L.; Scott, William K. (February 2012).
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range in severity from asymptomatic to fatal, and are most commonly due to inherited rather than acquired mutations of mitochondrial DNA. A given mitochondrial mutation can cause various diseases depending on the severity of the problem in the mitochondria and the tissue the affected mitochondria are
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and unidentified remains. Many researchers believe that mtDNA is better suited to identification of older skeletal remains than nuclear DNA because the greater number of copies of mtDNA per cell increases the chance of obtaining a useful sample, and because a match with a living relative is possible
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Because mitochondrial growth and fission are mediated by the nuclear DNA, mutations in nuclear DNA can have a wide array of effects on mtDNA replication. Despite the fact that the loci for some of these mutations have been found on human chromosomes, specific genes and proteins involved have not yet
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There are many other variations among the codes used by other mitochondrial m/tRNA, which happened not to be harmful to their organisms, and which can be used as a tool (along with other mutations among the mtDNA/RNA of different species) to determine relative proximity of common ancestry of related
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It is possible, even in twin births, for one baby to receive more than half mutant mtDNA molecules while the other twin may receive only a tiny fraction of mutant mtDNA molecules with respect to wildtype (depending on how the twins divide from each other and how many mutant mitochondria happen to be
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from mistakes that occur during the production of ATP through the electron transport chain. These mistakes can be caused by genetic disorders, cancer, and temperature variations. These radicals can damage mtDNA molecules or change them, making it hard for mitochondrial polymerase to replicate them.
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Mitochondrial DNA traditionally had the two strands of DNA designated the heavy and the light strand, due to their buoyant densities during separation in cesium chloride gradients, which was found to be related to the relative G+T nucleotide content of the strand. However, confusion of labeling of
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Carrieri, Giuseppina; Bonafè, Massimiliano; De Luca, Maria; Rose, Giuseppina; Varcasia, Ottavia; Bruni, Amalia; Maletta, Raffaele; Nacmias, Benedetta; Sorbi, Sandro; Corsonello, Francesco; Feraco, Emidio; Andreev, Kirill F.; Yashin, Anatoli I.; Franceschi, Claudio; De Benedictis, Giovanna (March
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synthesis. Only about 3% of them code for ATP production proteins. This means most of the genetic information coding for the protein makeup of mitochondria is in chromosomal DNA and is involved in processes other than ATP synthesis. This increases the chances that a mutation that will affect a
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Because of the complex ways in which mitochondrial and nuclear DNA "communicate" and interact, even seemingly simple inheritance is hard to diagnose. A mutation in chromosomal DNA may change a protein that regulates (increases or decreases) the production of another certain protein in the
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Anderson, S.; Bankier, A. T.; Barrell, B. G.; de Bruijn, M. H. L.; Coulson, A. R.; Drouin, J.; Eperon, I. C.; Nierlich, D. P.; Roe, B. A.; Sanger, F.; Schreier, P. H.; Smith, A. J. H.; Staden, R.; Young, I. G. (April 1981). "Sequence and organization of the human mitochondrial genome".
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laboratories occasionally use mtDNA comparison to identify human remains, and especially to identify older unidentified skeletal remains. Although unlike nuclear DNA, mtDNA is not specific to one individual, it can be used in combination with other evidence (anthropological evidence,
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Anderson, S.; Bankier, A. T.; Barrell, B. G.; de Bruijn, M. H. L.; Coulson, A. R.; Drouin, J.; Eperon, I. C.; Nierlich, D. P.; Roe, B. A.; Sanger, F.; Schreier, P. H.; Smith, A. J. H.; Staden, R.; Young, I. G. (1981). "Sequence and organization of the human mitochondrial genome".
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In total, the mitochondrion hosts about 3000 different types of proteins, but only about 13 of them are coded on the mitochondrial DNA. Most of the 3000 types of proteins are involved in a variety of processes other than ATP production, such as
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assemble at the mitochondrial promoters and begin transcription. The actual molecular events that are involved in initiation are unknown, but these factors make up the basal transcription machinery and have been shown to function in vitro.
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Gill, Peter; Ivanov, Pavel L.; Kimpton, Colin; Piercy, Romelle; Benson, Nicola; Tully, Gillian; Evett, Ian; Hagelberg, Erika; Sullivan, Kevin (February 1994). "Identification of the remains of the Romanov family by DNA analysis".
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Ruiz-Pesini, Eduardo; Lapeña, Ana-Cristina; Díez-Sánchez, Carmen; Pérez-Martos, Acisclo; Montoya, Julio; Alvarez, Enrique; Díaz, Miguel; Urriés, Antonio; Montoro, Luis; López-Pérez, Manuel J.; Enríquez, José A. (September 2000).
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Li, Xiangqi; Liu, Lianyong; Xi, Qian; Zhao, Xuemei; Fang, Mingshuang; Ma, Junhua; Zhu, Zhaohui; Wang, Xing; Shi, Chao; Wang, Jingnan; Zhu, Hongling; Zhang, Jichen; Zhang, Chaobao; Hu, Shuanggang; Ni, Minjie; Gu, Mingjun (2016).
1592:. After the mitochondrion has enough mtDNA, membrane area, and membrane proteins, it can undergo fission (very similar to that which bacteria use) to become two mitochondria. Evidence suggests that mitochondria can also undergo 1559:
translations have still not been successful, probably due to the difficulty of isolating sufficient mt mRNA, functional mt rRNA, and possibly because of the complicated changes that the mRNA undergoes before it is translated.
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carried in mitochondrial DNA, or nuclear DNA coding for mitochondrial components. Slight problems with any one of the numerous enzymes used by the mitochondria can be devastating to the cell, and in turn, to the organism.
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The reason for maternal inheritance in mitochondrial DNA is that when the sperm enters the egg cell, it discards its middle part, which contains its mitochondria, so that only its head with the nucleus penetrates the egg
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contains approximately 100 mitochondria, giving a total number of mtDNA molecules per human cell of approximately 500. The amount of mitochondria per cell also varies by cell type, with some examples being:
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Tanaka, Masashi; Fuku, Noriyuki; Nishigaki, Yutaka; Matsuo, Hitoshi; Segawa, Tomonori; Watanabe, Sachiro; Kato, Kimihiko; Yoko, Kiyoshi; Ito, Masafumi; Nozawa, Yoshinori; Yamada, Yoshiji (February 2007).
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Barroso Lima, Nicholas Costa; Prosdocimi, Francisco (17 February 2018). "The heavy strand dilemma of vertebrate mitochondria on genome sequencing age: number of encoded genes or G + T content?".
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Theodoratou, Evropi; Din, Farhat V.N.; Farrington, Susan M.; Cetnarskyj, Roseanne; Barnetson, Rebecca A.; Porteous, Mary E.; Dunlop, Malcolm G.; Campbell, Harry; Tenesa, Albert (February 2010).
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Angireddy, Rajesh; Kazmi, Hasan Raza; Srinivasan, Satish; Sun, Li; Iqbal, Jameel; Fuchs, Serge Y.; Guha, Manti; Kijima, Takashi; Yuen, Tony; Zaidi, Mone; Avadhani, Narayan G. (August 2019).
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Unlike the other proteins, humanin does not remain in the mitochondria, and interacts with the rest of the cell and cellular receptors. Humanin can protect brain cells by inhibiting
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varies from cell (in this case, the fertilized oocyte) to cell depending both on the number it inherited from its mother cell and environmental factors which may favor mutant or
400:: Mature metaphase II egg cells can contain 100,000 mitochondria, and 50,000–1,500,000 copies of the mitochondrial genome (corresponding to up to 90% of the egg cell DNA). 3193:"Short-term serum deprivation causes no significant mitochondrial DNA mutation in vascular smooth muscle cells revealed by a new next generation sequencing technology" 1776:'s remains were identified using a comparison between mtDNA extracted from his remains and the mtDNA of the son of the female-line great-granddaughter of his sister. 1683:
in. Conversely, several different mutations may present themselves as the same disease. This almost patient-specific characterization of mitochondrial diseases (see
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It was originally incorrectly believed that the mitochondrial genome contained only 13 protein-coding genes, all of them encoding proteins of the
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Zimmerman, Earl G.; Akins, Darrin R.; Planz, John V.; Schurr, Michael J. (September 1988). "A rapid procedure for isolating mitochondrial DNA".
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takes place on the heavy strand a polycistronic transcript is created. The light strand produces either small transcripts, which can be used as
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for mitochondrial RNA, and therefore most mitochondrial DNA mutations lead to functional problems, which may be manifested as muscle disorders (
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Stone, Anne C.; Starrs, James E.; Stoneking, Mark (1 January 2001). "Mitochondrial DNA Analysis of the Presumptive Remains of Jesse James".
167: 17: 3924: 2078: 1608:, and protein exchanges are constantly occurring. mtDNA shared among mitochondria (despite the fact that they can undergo fusion). 1504:
is controlled by nuclear genes and is specifically suited to make as many mitochondria as that particular cell needs at the time.
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Satoh, M; Kuroiwa, T (September 1991). "Organization of multiple nucleoids and DNA molecules in mitochondria of a human cell".
1452:" are "UAA", "UAG", and "UGA". In vertebrate mitochondria "AGA" and "AGG" are also stop codons, but not "UGA", which codes for 3114:
Ivanov, Pavel L.; Wadhams, Mark J.; Roby, Rhonda K.; Holland, Mitchell M.; Weedn, Victor W.; Parsons, Thomas J. (April 1996).
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is, for the most part, universal, with few exceptions: mitochondrial genetics includes some of these. For most organisms the "
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on each side of the division). In a few cases, some mitochondria or a mitochondrion from the sperm cell enters the oocyte but
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The process of transcription initiation in mitochondria involves three types of proteins: the mitochondrial RNA polymerase (
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species. (The more related two species are, the more mtDNA/RNA mutations will be the same in their mitochondrial genome).
1845: 1835: 653: 3779: 2793:"Mitochondrial DNA haplogroups and risk of transient ischaemic attack and ischaemic stroke: a genetic association study" 4052: 2707:
2001). "Mitochondrial DNA haplogroups and APOE4 allele are non-independent variables in sporadic Alzheimer's disease".
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Asin-Cayuela, Jordi; Gustafsson, Claes M. (2007). "Mitochondrial transcription and its regulation in mammalian cells".
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Welter, Cornelius; Meese, Eckart; Blin, Nikolaus (1988). "Rapid step-gradient purification of mitochondrial DNA".
1532:), mitochondrial transcription factor A (TFAM), and mitochondrial transcription factors B1 and B2 (TFB1M, TFB2M). 138: 288:
is the entirety of hereditary information contained in human mitochondria. Mitochondria are small structures in
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with the protein-coding (red, orange, yellow), ribosomal RNA (blue), and transfer RNA genes (white). Non-coding
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the mitochondria within the fertilized oocyte is what the new life will have to begin with (in terms of mtDNA),
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Because they provide 30 molecules of ATP per glucose molecule in contrast to the 2 ATP molecules produced by
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Using these techniques, it is estimated that the first mitochondria arose around 1.5 billion years ago.
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The number of affected mtDNA molecules inherited by a specific offspring can vary greatly because
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In humans, mitochondrial DNA (mtDNA) forms closed circular molecules that contain 16,569 DNA
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Martín-Jiménez, Rebeca; Lurette, Olivier; Hebert-Chatelain, Etienne (1 August 2020).
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Chinnery, Patrick F; Elliott, Hannah R; Syed, Anila; Rothwell, Peter M (May 2010).
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before fertilization, or (as stated above) through mutations in the chromosomes.
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for the cell to use, and are hence referred to as the "powerhouses" of the cell.
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for lists of databases which help users find others with their Y-DNA and mtDNA.
1757: 377: 289: 86: 2908: 2843:"Human mtDNA Haplogroups Associated with High or Reduced Spermatozoa Motility" 355:, mitochondria are essential to all higher organisms for sustaining life. The 314:
can occur under certain circumstances. Mitochondrial inheritance is therefore
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gene) is used in the copying of mtDNA during replication. Because the two (
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was discovered, and was found to be encoded by the mitochondrial gene
3853: 3597: 3575: 3556: 2749: 2395: 2048: 1929: 1873: 1663: 1490: 1483: 1333: 1093: 1045: 779: 373: 255: 237: 3115: 434:, despite the fact that the phenotype of the disease may be masked. 3839: 3623: 3430: 3307: 3256:, reports on published data about human mitochondrial DNA variation 2858: 1712: 1556: 1381: 997: 925: 511: 453: 397: 345: 266: 249: 2535: 1636: 4009: 3863: 3774: 3769: 2752:"Damage in Mitochondrial DNA Associated with Parkinson's Disease" 1261: 1165: 1141: 1069: 901: 852: 833: 764: 759: 743: 730: 598: 507: 503: 212: 3919: 3806: 3570: 3566: 3561: 3259: 2372: 2025: 1728: 1700: 1668: 1533: 1529: 1405: 1320: 1309: 1296: 1285: 1189: 1176: 1152: 709: 696: 683: 662: 637: 624: 611: 585: 572: 559: 323: 293: 193: 150: 502:. However, in 2001, a 14th biologically active protein called 3984: 3969: 3964: 3959: 3954: 3949: 3944: 3939: 3934: 3909: 3847: 2889: 1736: 1688: 1545: 1541: 1392: 1368: 1344: 1272: 1248: 1224: 1200: 1128: 1104: 1080: 1056: 1032: 1008: 984: 960: 936: 912: 322:
presumes that half the genetic material of a fertilized egg (
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Nagy G, Barcza M, Gonchoroff N, Phillips PE, Perl A (2004).
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The Mitochondrial DNA Polymerase (Pol gamma, encoded by the
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Human mtDNA can also be used to help identify individuals.
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remains his mitochondrial DNA was compared with that of
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even if numerous maternal generations separate the two.
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International System for Human Cytogenetic Nomenclature
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by comparison of their mitochondrial DNA with that of
1932:"Mitochondria in oocyte aging: current understanding" 3163:
The Last Days of Richard III and the Fate of His DNA
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Schwartz, Marianne; Vissing, John (22 August 2002).
1791:, whose maternal grandmother was Alexandra's sister 2579:
Nihon Rinsho. Japanese Journal of Clinical Medicine
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Biochimica et Biophysica Acta (BBA) - Bioenergetics
1810:(Queen Alexandra) was sister of Nicholas II mother 1657:
Contribution of mitochondrial versus nuclear genome
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Replication, repair, transcription, and translation
2606:"Understanding mitochondrial myopathies: a review" 2284: 2282: 2280: 1876:"Mitochondrial DNA in anucleate human blood cells" 1735:and which are also believed to play a role in the 463:in the mitochondria varies from around two to ten. 1611: 4039: 1783:, last Empress of Russia, and her children were 1616:Mitochondrial DNA is susceptible to damage from 2946:Proceedings of the National Academy of Sciences 2432:. National Center for Biotechnology Information 2277: 2240: 1984: 1637:Chromosomally mediated mtDNA replication errors 1563: 3065: 3063: 1930:Zhang D, Keilty D, Zhang ZF, Chian RC (2017). 1925: 1923: 1874:Shuster RC, Rubenstein AJ, Wallace DC (1988). 3535: 3521: 3275: 1869: 1867: 510:which also encodes part of the mitochondrial 3160: 2191:: CS1 maint: multiple names: authors list ( 2107: 2019: 1970:: CS1 maint: multiple names: authors list ( 1912:: CS1 maint: multiple names: authors list ( 3189: 3060: 2136: 2103: 2101: 2099: 1987:"Paternal Inheritance of Mitochondrial DNA" 1920: 3528: 3514: 3282: 3268: 3000:"Paleo-DNA Laboratory – Forensic Services" 1864: 38: 3208: 3017: 2975: 2965: 2916: 2866: 2816: 2767: 2682: 2672: 2631: 2621: 2553: 2504: 2349: 2168: 2002: 1947: 1645: 2096: 1439: 416: 408: 231: 2331: 404: 27:Study of the human mitochondrial genome 14: 4040: 2847:The American Journal of Human Genetics 1475:is that mitochondria originated as an 4017:List of organisms by chromosome count 3509: 3263: 2939: 2603: 2332:Taanman, Jan-Willem (February 1999). 616:10,760–12,137 (overlap with MT-ND4L) 494:Electron transport chain, and humanin 312:paternal mtDNA transmission in humans 3197:Acta Biochimica et Biophysica Sinica 2576: 1781:Alexandra Feodorovna (Alix of Hesse) 1430: 340:Eighty percent of mitochondrial DNA 310:. There are theories, however, that 2604:Ahuja, Abhimanyu S. (21 May 2018). 1846:Human mitochondrial molecular clock 1836:Human mitochondrial DNA haplogroups 1806:, whose maternal great-grandmother 1742: 1691:. This condition is referred to as 1555:is still not very well understood. 735:8,527–9,207 (overlap with MT-ATP8) 654:Coenzyme Q - cytochrome c reductase 302:(mtDNA) is not transmitted through 24: 3183: 1510:in humans is initiated from three 1464:in vertebrate mitochondrial mRNA. 482:Category:Human mitochondrial genes 413:Mitochondrial inheritance patterns 25: 4064: 3226: 3289: 1804:James Carnegie, 3rd Duke of Fife 1789:Prince Philip, Duke of Edinburgh 3638:Macrochromosome/Microchromosome 3154: 3107: 2992: 2933: 2883: 2833: 2784: 2743: 2699: 2648: 2597: 2570: 2529: 2479: 2444: 2418: 2366: 2325: 1991:New England Journal of Medicine 1674: 1473:A generally accepted hypothesis 450:number of affected mitochondria 2577:Goto, Y (September 1993). "". 2453:Trends in Biochemical Sciences 2234: 2199: 2071: 1978: 1817:Similarly were the remains of 1798:Similarly to identify Emperor 1612:Damage and transcription error 76: 13: 1: 2809:10.1016/S1474-4422(10)70083-1 2351:10.1016/s0005-2728(98)00161-3 2303:10.1080/24701394.2016.1275603 1892:10.1016/s0006-291x(88)81291-9 1857: 331:mitochondrial DNA haplogroups 329:This allowed the creation of 4048:Human mitochondrial genetics 3026:Journal of Forensic Sciences 2940:Brown, W. M. (1 June 1980). 2220:10.1016/0735-0651(88)90004-0 2122:10.1016/0014-4827(91)90467-9 1841:Cambridge Reference Sequence 1814:(Empress Maria Feodorovna). 1564:Mitochondrial DNA polymerase 1403: 1379: 1355: 1331: 1307: 1283: 1259: 1235: 1211: 1187: 1163: 1139: 1115: 1091: 1067: 1043: 1019: 995: 971: 947: 923: 899: 326:) derives from each parent. 263:Human mitochondrial genetics 7: 3161:Ashdown-Hill, John (2013). 2161:10.4049/jimmunol.173.6.3676 1831:Paternal mtDNA transmission 1824: 1764: 1596:and exchange (in a form of 1508:Mitochondrial transcription 871:The following genes encode 816:Positions in the mitogenome 790:The following genes encode 538:Positions in the mitogenome 367: 10: 4069: 3678:Dinoflagellate chromosomes 2465:10.1016/j.tibs.2007.01.003 2110:Experimental Cell Research 1880:Biochem Biophys Res Commun 1779:Similarly, the remains of 1649: 1460:in most organisms but for 488:human mitochondrial genome 479: 394:: 3 mitochondria per cell. 388:: 0 mitochondria per cell. 286:human mitochondrial genome 253: 4053:Human mitochondrial genes 4022:List of sequenced genomes 3997: 3900: 3862: 3832: 3790:Chromosomal translocation 3760: 3663:A chromosome/B chromosome 3654:(or accessory chromosome) 3616: 3547: 3470: 3456: 3429: 3306: 3297: 2909:10.1007/s00439-011-1060-3 2243:Molecular Biology Reports 1553:Mitochondrial translation 1502:Mitochondrial replication 1456:instead. "AUA" codes for 758: 755: 724: 721: 677: 674: 652: 649: 551: 548: 472:are actively decomposed. 461:number of mtDNA molecules 211: 192: 185: 173: 161: 149: 137: 132: 120: 108: 103: 93: 74: 62: 57: 44:The 16,569 bp long human 37: 32: 18:Mitochondrial DNA (human) 3844:Telomere-binding protein 3658:Supernumerary chromosome 2291:Mitochondrial DNA Part A 2208:Gene Analysis Techniques 500:electron transport chain 475: 3464:Human mitochondrial DNA 3241:: A mitogenome browser. 1754:circumstantial evidence 1631:coronary artery disease 866: 785: 33:Human mitochondrial DNA 3780:Structural alterations 2967:10.1073/pnas.77.6.3605 2674:10.1096/fj.201900010RR 1705:cardiovascular disease 1680:Mitochondrial diseases 1646:Mitochondrial diseases 1582:origins of replication 1484:symbiotic relationship 428:mitochondrial diseases 423: 414: 357:mitochondrial diseases 259: 3797:Numerical alterations 3785:Chromosomal inversion 3683:Homologous chromosome 2769:10.1089/dna.2020.5398 2721:10.1007/s004390100463 2555:10.1093/carcin/bgp237 1936:Facts Views Vis Obgyn 1685:Personalized medicine 1652:Mitochondrial disease 1650:Further information: 1590:mitochondrial fission 1584:, it replicates in a 1440:Genetic code variants 470:paternal mitochondria 420: 412: 320:Mendelian inheritance 254:Further information: 235: 4005:Extrachromosomal DNA 3693:Satellite chromosome 3668:Lampbrush chromosome 3608:Nuclear organization 3483:Human Genome Project 3458:Mitochondrial genome 2797:The Lancet Neurology 2756:DNA and Cell Biology 2430:www.ncbi.nlm.nih.gov 2004:10.1056/NEJMoa020350 1808:Alexandra of Denmark 1725:Parkinsons's disease 1711:, specific forms of 1618:free oxygen radicals 679:Cytochrome c oxidase 405:Inheritance patterns 265:is the study of the 133:External map viewers 50:mtDNA control region 46:mitochondrial genome 3698:Centromere position 3673:Polytene chromosome 3643:Circular chromosome 3490:List of human genes 3235:: A genome browser. 3210:10.1093/abbs/gmw059 2958:1980PNAS...77.3605B 2426:"The Genetic Codes" 2388:1981Natur.290..457A 2041:1981Natur.290..457A 1721:Alzheimer's disease 514:(made out of RNA): 335:population genetics 280:contained in human 248:) up to 1,500,000 ( 104:Complete gene lists 3132:10.1038/ng0496-417 3085:10.1038/ng0294-130 2623:10.7717/peerj.4790 2255:10.1007/BF00539059 553:NADH dehydrogenase 456:mitochondrial DNA, 424: 415: 260: 187:Full DNA sequences 4035: 4034: 3993: 3992: 3730:Centromere number 3647:Linear chromosome 3503: 3502: 3495:Human archaeology 3452: 3451: 3245:Mitochondrial DNA 3172:978-0-7524-9205-6 3165:. History Press. 3038:10.1520/JFS14932J 2661:The FASEB Journal 2506:10.2337/db06-1105 2035:(5806): 457–465. 1851:Genetic genealogy 1812:Dagmar of Denmark 1793:Victoria of Hesse 1697:diabetes mellitus 1431:Location of genes 1428: 1427: 864: 863: 776: 775: 361:genetic disorders 300:Mitochondrial DNA 273:mitochondrial DNA 230: 229: 98:Mitochondrial DNA 83:13 (coding genes) 16:(Redirected from 4060: 3860: 3859: 3824:Polyploidization 3652:Extra chromosome 3567:Genetic material 3530: 3523: 3516: 3507: 3506: 3304: 3303: 3284: 3277: 3270: 3261: 3260: 3222: 3212: 3177: 3176: 3158: 3152: 3151: 3111: 3105: 3104: 3067: 3058: 3057: 3021: 3015: 3014: 3012: 3011: 3002:. Archived from 2996: 2990: 2989: 2979: 2969: 2952:(6): 3605–3609. 2937: 2931: 2930: 2920: 2887: 2881: 2880: 2870: 2837: 2831: 2830: 2820: 2788: 2782: 2781: 2771: 2762:(8): 1421–1430. 2747: 2741: 2740: 2703: 2697: 2696: 2686: 2676: 2667:(8): 9167–9181. 2652: 2646: 2645: 2635: 2625: 2601: 2595: 2594: 2574: 2568: 2567: 2557: 2533: 2527: 2526: 2508: 2483: 2477: 2476: 2448: 2442: 2441: 2439: 2437: 2422: 2416: 2415: 2396:10.1038/290457a0 2382:(5806): 457–65. 2370: 2364: 2363: 2353: 2329: 2323: 2322: 2286: 2275: 2274: 2238: 2232: 2231: 2203: 2197: 2196: 2190: 2182: 2172: 2140: 2134: 2133: 2105: 2094: 2093: 2091: 2090: 2081:. Archived from 2075: 2069: 2068: 2049:10.1038/290457a0 2023: 2017: 2016: 2006: 1982: 1976: 1975: 1969: 1961: 1951: 1927: 1918: 1917: 1911: 1903: 1871: 1819:King Richard III 1743:Use in forensics 1733:male infertility 878: 877: 797: 796: 517: 516: 490:are as follows. 226: 207: 87:non coding genes 78: 42: 30: 29: 21: 4068: 4067: 4063: 4062: 4061: 4059: 4058: 4057: 4038: 4037: 4036: 4031: 3989: 3896: 3858: 3828: 3817:Paleopolyploidy 3762: 3756: 3612: 3586:Heterochromatin 3549: 3543: 3534: 3504: 3499: 3466: 3448: 3425: 3293: 3288: 3229: 3186: 3184:Further reading 3181: 3180: 3173: 3159: 3155: 3120:Nature Genetics 3112: 3108: 3073:Nature Genetics 3068: 3061: 3022: 3018: 3009: 3007: 2998: 2997: 2993: 2938: 2934: 2888: 2884: 2838: 2834: 2789: 2785: 2748: 2744: 2704: 2700: 2653: 2649: 2602: 2598: 2575: 2571: 2534: 2530: 2484: 2480: 2449: 2445: 2435: 2433: 2424: 2423: 2419: 2371: 2367: 2330: 2326: 2287: 2278: 2239: 2235: 2204: 2200: 2184: 2183: 2141: 2137: 2106: 2097: 2088: 2086: 2077: 2076: 2072: 2024: 2020: 1983: 1979: 1963: 1962: 1928: 1921: 1905: 1904: 1872: 1865: 1860: 1827: 1767: 1758:missing persons 1745: 1709:lactic acidosis 1677: 1659: 1654: 1648: 1639: 1614: 1566: 1499: 1442: 1433: 869: 788: 522: 496: 484: 478: 407: 370: 258: 217: 198: 84: 53: 28: 23: 22: 15: 12: 11: 5: 4066: 4056: 4055: 4050: 4033: 4032: 4030: 4029: 4024: 4019: 4014: 4013: 4012: 4001: 3999: 3995: 3994: 3991: 3990: 3988: 3987: 3982: 3977: 3972: 3967: 3962: 3957: 3952: 3947: 3942: 3937: 3932: 3927: 3922: 3917: 3912: 3906: 3904: 3898: 3897: 3895: 3894: 3889: 3884: 3879: 3874: 3868: 3866: 3857: 3856: 3851: 3836: 3834: 3830: 3829: 3827: 3826: 3821: 3820: 3819: 3814: 3809: 3804: 3794: 3793: 3792: 3787: 3777: 3772: 3766: 3764: 3758: 3757: 3755: 3754: 3753: 3752: 3747: 3742: 3737: 3727: 3726: 3725: 3720: 3715: 3710: 3708:Submetacentric 3705: 3695: 3690: 3685: 3680: 3675: 3670: 3665: 3660: 3655: 3649: 3640: 3635: 3634:or heterosome) 3628:Sex chromosome 3620: 3618: 3614: 3613: 3611: 3610: 3605: 3600: 3595: 3590: 3589: 3588: 3583: 3573: 3564: 3559: 3553: 3551: 3545: 3544: 3533: 3532: 3525: 3518: 3510: 3501: 3500: 3498: 3497: 3492: 3487: 3486: 3485: 3474: 3472: 3471:Related topics 3468: 3467: 3462: 3460: 3454: 3453: 3450: 3449: 3447: 3446: 3441: 3435: 3433: 3431:Sex chromosome 3427: 3426: 3424: 3423: 3418: 3413: 3408: 3403: 3398: 3393: 3388: 3383: 3378: 3373: 3368: 3363: 3358: 3353: 3348: 3343: 3338: 3333: 3328: 3323: 3318: 3312: 3310: 3301: 3299:Nuclear genome 3295: 3294: 3287: 3286: 3279: 3272: 3264: 3258: 3257: 3251: 3242: 3236: 3228: 3227:External links 3225: 3224: 3223: 3185: 3182: 3179: 3178: 3171: 3153: 3126:(4): 417–420. 3106: 3079:(2): 130–135. 3059: 3016: 2991: 2932: 2903:(2): 201–208. 2897:Human Genetics 2882: 2859:10.1086/303040 2853:(3): 682–696. 2832: 2803:(5): 498–503. 2783: 2742: 2715:(3): 194–198. 2709:Human Genetics 2698: 2647: 2596: 2569: 2548:(2): 296–301. 2542:Carcinogenesis 2528: 2499:(2): 518–521. 2478: 2443: 2417: 2365: 2344:(2): 103–123. 2324: 2297:(2): 300–302. 2276: 2249:(2): 117–120. 2233: 2214:(5): 102–104. 2198: 2155:(6): 3676–83. 2135: 2116:(1): 137–140. 2095: 2070: 2018: 1997:(8): 576–580. 1977: 1919: 1862: 1861: 1859: 1856: 1855: 1854: 1848: 1843: 1838: 1833: 1826: 1823: 1766: 1763: 1744: 1741: 1676: 1673: 1658: 1655: 1647: 1644: 1638: 1635: 1613: 1610: 1565: 1562: 1498: 1495: 1441: 1438: 1432: 1429: 1426: 1425: 1422: 1419: 1414: 1411: 1408: 1402: 1401: 1398: 1395: 1390: 1387: 1384: 1378: 1377: 1374: 1371: 1366: 1363: 1360: 1354: 1353: 1350: 1349:15,888–15,953 1347: 1342: 1339: 1336: 1330: 1329: 1326: 1325:12,207–12,265 1323: 1318: 1315: 1312: 1306: 1305: 1302: 1299: 1294: 1291: 1288: 1282: 1281: 1278: 1277:15,956–16,023 1275: 1270: 1267: 1264: 1258: 1257: 1254: 1251: 1246: 1243: 1240: 1234: 1233: 1230: 1227: 1222: 1219: 1216: 1210: 1209: 1206: 1203: 1198: 1195: 1192: 1186: 1185: 1182: 1181:12,266–12,336 1179: 1174: 1171: 1168: 1162: 1161: 1158: 1155: 1150: 1147: 1144: 1138: 1137: 1134: 1131: 1126: 1123: 1120: 1114: 1113: 1110: 1109:12,138–12,206 1107: 1102: 1099: 1096: 1090: 1089: 1086: 1083: 1078: 1075: 1072: 1066: 1065: 1062: 1059: 1054: 1051: 1048: 1042: 1041: 1038: 1037:14,674–14,742 1035: 1030: 1027: 1024: 1018: 1017: 1014: 1011: 1006: 1003: 1000: 994: 993: 990: 987: 982: 979: 976: 970: 969: 966: 963: 958: 955: 952: 946: 945: 942: 941:10,405–10,469 939: 934: 931: 928: 922: 921: 918: 915: 910: 907: 904: 898: 897: 894: 891: 888: 885: 882: 868: 865: 862: 861: 858: 855: 850: 847: 843: 842: 839: 836: 831: 828: 824: 823: 818: 813: 808: 803: 787: 784: 774: 773: 770: 767: 762: 757: 753: 752: 749: 746: 740: 739: 736: 733: 728: 723: 719: 718: 715: 712: 706: 705: 702: 699: 693: 692: 689: 686: 681: 676: 672: 671: 668: 667:14,747–15,887 665: 660: 651: 647: 646: 643: 642:14,149–14,673 640: 634: 633: 630: 629:12,337–14,148 627: 621: 620: 617: 614: 608: 607: 604: 603:10,470–10,766 601: 595: 594: 591: 590:10,059–10,404 588: 582: 581: 578: 575: 569: 568: 565: 562: 556: 555: 550: 546: 545: 540: 535: 530: 525: 495: 492: 477: 474: 465: 464: 457: 446: 432:Mendelian laws 406: 403: 402: 401: 395: 389: 369: 366: 292:that generate 228: 227: 215: 209: 208: 196: 190: 189: 183: 182: 177: 171: 170: 165: 159: 158: 153: 147: 146: 141: 135: 134: 130: 129: 124: 118: 117: 112: 106: 105: 101: 100: 95: 91: 90: 81: 72: 71: 68: 60: 59: 55: 54: 43: 35: 34: 26: 9: 6: 4: 3: 2: 4065: 4054: 4051: 4049: 4046: 4045: 4043: 4028: 4025: 4023: 4020: 4018: 4015: 4011: 4008: 4007: 4006: 4003: 4002: 4000: 3996: 3986: 3983: 3981: 3978: 3976: 3973: 3971: 3968: 3966: 3963: 3961: 3958: 3956: 3953: 3951: 3948: 3946: 3943: 3941: 3938: 3936: 3933: 3931: 3928: 3926: 3923: 3921: 3918: 3916: 3913: 3911: 3908: 3907: 3905: 3903: 3899: 3893: 3890: 3888: 3885: 3883: 3880: 3878: 3875: 3873: 3870: 3869: 3867: 3865: 3861: 3855: 3852: 3849: 3845: 3841: 3838: 3837: 3835: 3831: 3825: 3822: 3818: 3815: 3813: 3810: 3808: 3805: 3803: 3800: 3799: 3798: 3795: 3791: 3788: 3786: 3783: 3782: 3781: 3778: 3776: 3773: 3771: 3768: 3767: 3765: 3763:and evolution 3759: 3751: 3748: 3746: 3743: 3741: 3738: 3736: 3733: 3732: 3731: 3728: 3724: 3721: 3719: 3716: 3714: 3711: 3709: 3706: 3704: 3701: 3700: 3699: 3696: 3694: 3691: 3689: 3688:Isochromosome 3686: 3684: 3681: 3679: 3676: 3674: 3671: 3669: 3666: 3664: 3661: 3659: 3656: 3653: 3650: 3648: 3644: 3641: 3639: 3636: 3633: 3629: 3625: 3622: 3621: 3619: 3615: 3609: 3606: 3604: 3601: 3599: 3596: 3594: 3591: 3587: 3584: 3582: 3579: 3578: 3577: 3574: 3572: 3568: 3565: 3563: 3560: 3558: 3555: 3554: 3552: 3546: 3542: 3538: 3531: 3526: 3524: 3519: 3517: 3512: 3511: 3508: 3496: 3493: 3491: 3488: 3484: 3481: 3480: 3479: 3476: 3475: 3473: 3469: 3465: 3461: 3459: 3455: 3445: 3442: 3440: 3437: 3436: 3434: 3432: 3428: 3422: 3419: 3417: 3414: 3412: 3409: 3407: 3404: 3402: 3399: 3397: 3394: 3392: 3389: 3387: 3384: 3382: 3379: 3377: 3374: 3372: 3369: 3367: 3364: 3362: 3359: 3357: 3354: 3352: 3349: 3347: 3344: 3342: 3339: 3337: 3334: 3332: 3329: 3327: 3324: 3322: 3319: 3317: 3314: 3313: 3311: 3309: 3305: 3302: 3300: 3296: 3292: 3285: 3280: 3278: 3273: 3271: 3266: 3265: 3262: 3255: 3252: 3250: 3246: 3243: 3240: 3237: 3234: 3233:ISOGG YBrowse 3231: 3230: 3220: 3216: 3211: 3206: 3202: 3198: 3194: 3188: 3187: 3174: 3168: 3164: 3157: 3149: 3145: 3141: 3137: 3133: 3129: 3125: 3121: 3117: 3110: 3102: 3098: 3094: 3090: 3086: 3082: 3078: 3074: 3066: 3064: 3055: 3051: 3047: 3043: 3039: 3035: 3031: 3027: 3020: 3006:on 2012-03-13 3005: 3001: 2995: 2987: 2983: 2978: 2973: 2968: 2963: 2959: 2955: 2951: 2947: 2943: 2936: 2928: 2924: 2919: 2914: 2910: 2906: 2902: 2898: 2894: 2886: 2878: 2874: 2869: 2864: 2860: 2856: 2852: 2848: 2844: 2836: 2828: 2824: 2819: 2814: 2810: 2806: 2802: 2798: 2794: 2787: 2779: 2775: 2770: 2765: 2761: 2757: 2753: 2746: 2738: 2734: 2730: 2726: 2722: 2718: 2714: 2710: 2702: 2694: 2690: 2685: 2680: 2675: 2670: 2666: 2662: 2658: 2651: 2643: 2639: 2634: 2629: 2624: 2619: 2615: 2611: 2607: 2600: 2592: 2588: 2585:(9): 2373–8. 2584: 2580: 2573: 2565: 2561: 2556: 2551: 2547: 2543: 2539: 2532: 2524: 2520: 2516: 2512: 2507: 2502: 2498: 2494: 2490: 2482: 2474: 2470: 2466: 2462: 2459:(3): 111–17. 2458: 2454: 2447: 2431: 2427: 2421: 2413: 2409: 2405: 2401: 2397: 2393: 2389: 2385: 2381: 2377: 2369: 2361: 2357: 2352: 2347: 2343: 2339: 2335: 2328: 2320: 2316: 2312: 2308: 2304: 2300: 2296: 2292: 2285: 2283: 2281: 2272: 2268: 2264: 2260: 2256: 2252: 2248: 2244: 2237: 2229: 2225: 2221: 2217: 2213: 2209: 2202: 2194: 2188: 2180: 2176: 2171: 2166: 2162: 2158: 2154: 2150: 2146: 2139: 2131: 2127: 2123: 2119: 2115: 2111: 2104: 2102: 2100: 2085:on 2011-08-13 2084: 2080: 2074: 2066: 2062: 2058: 2054: 2050: 2046: 2042: 2038: 2034: 2030: 2022: 2014: 2010: 2005: 2000: 1996: 1992: 1988: 1981: 1973: 1967: 1959: 1955: 1950: 1945: 1941: 1937: 1933: 1926: 1924: 1915: 1909: 1901: 1897: 1893: 1889: 1886:(3): 1360–5. 1885: 1881: 1877: 1870: 1868: 1863: 1852: 1849: 1847: 1844: 1842: 1839: 1837: 1834: 1832: 1829: 1828: 1822: 1820: 1815: 1813: 1809: 1805: 1801: 1796: 1794: 1790: 1786: 1782: 1777: 1775: 1771: 1762: 1759: 1755: 1750: 1740: 1738: 1737:aging process 1734: 1730: 1726: 1722: 1718: 1714: 1710: 1706: 1702: 1698: 1694: 1690: 1686: 1681: 1672: 1670: 1665: 1653: 1643: 1634: 1632: 1628: 1624: 1619: 1609: 1607: 1603: 1599: 1595: 1591: 1587: 1583: 1579: 1575: 1571: 1561: 1558: 1554: 1550: 1547: 1543: 1539: 1535: 1531: 1526: 1524: 1520: 1519:transcription 1515: 1513: 1509: 1505: 1503: 1494: 1492: 1489: 1485: 1481: 1478: 1474: 1469: 1465: 1463: 1459: 1455: 1451: 1447: 1437: 1423: 1420: 1418: 1415: 1412: 1409: 1407: 1404: 1399: 1396: 1394: 1391: 1388: 1385: 1383: 1380: 1375: 1372: 1370: 1367: 1364: 1361: 1359: 1356: 1351: 1348: 1346: 1343: 1340: 1337: 1335: 1332: 1327: 1324: 1322: 1319: 1316: 1313: 1311: 1308: 1303: 1300: 1298: 1295: 1292: 1289: 1287: 1284: 1279: 1276: 1274: 1271: 1268: 1265: 1263: 1260: 1255: 1252: 1250: 1247: 1244: 1241: 1239: 1238:Phenylalanine 1236: 1231: 1228: 1226: 1223: 1220: 1217: 1215: 1212: 1207: 1204: 1202: 1199: 1196: 1193: 1191: 1188: 1183: 1180: 1178: 1175: 1172: 1169: 1167: 1164: 1159: 1156: 1154: 1151: 1148: 1145: 1143: 1140: 1135: 1132: 1130: 1127: 1124: 1121: 1119: 1116: 1111: 1108: 1106: 1103: 1100: 1097: 1095: 1092: 1087: 1085:9,991–10,058 1084: 1082: 1079: 1076: 1073: 1071: 1068: 1063: 1060: 1058: 1055: 1052: 1049: 1047: 1044: 1039: 1036: 1034: 1031: 1028: 1025: 1023: 1022:Glutamic acid 1020: 1015: 1012: 1010: 1007: 1004: 1001: 999: 996: 991: 988: 986: 983: 980: 977: 975: 974:Aspartic acid 972: 967: 964: 962: 959: 956: 953: 951: 948: 943: 940: 938: 935: 932: 929: 927: 924: 919: 916: 914: 911: 908: 905: 903: 900: 895: 892: 889: 886: 883: 880: 879: 876: 874: 859: 856: 854: 851: 848: 845: 844: 840: 837: 835: 832: 829: 826: 825: 822: 819: 817: 814: 812: 809: 807: 804: 802: 799: 798: 795: 793: 783: 781: 771: 768: 766: 763: 761: 754: 750: 747: 745: 742: 741: 737: 734: 732: 729: 727: 720: 716: 713: 711: 708: 707: 703: 700: 698: 695: 694: 690: 687: 685: 682: 680: 673: 669: 666: 664: 661: 659: 655: 648: 644: 641: 639: 636: 635: 631: 628: 626: 623: 622: 618: 615: 613: 610: 609: 605: 602: 600: 597: 596: 592: 589: 587: 584: 583: 579: 576: 574: 571: 570: 566: 563: 561: 558: 557: 554: 547: 544: 541: 539: 536: 534: 531: 529: 526: 524: 519: 518: 515: 513: 509: 505: 501: 491: 489: 486:Genes in the 483: 473: 471: 462: 458: 455: 451: 447: 444: 443: 442: 439: 435: 433: 429: 419: 411: 399: 396: 393: 390: 387: 384: 383: 382: 379: 375: 365: 362: 358: 354: 349: 347: 343: 338: 336: 332: 327: 325: 321: 317: 316:non-Mendelian 313: 309: 305: 301: 297: 295: 291: 287: 283: 279: 275: 274: 268: 264: 257: 251: 247: 243: 239: 234: 224: 220: 216: 214: 210: 205: 201: 197: 195: 191: 188: 184: 181: 178: 176: 172: 169: 168:Chromosome MT 166: 164: 160: 157: 156:Chromosome MT 154: 152: 148: 145: 144:Chromosome MT 142: 140: 136: 131: 128: 125: 123: 119: 116: 113: 111: 107: 102: 99: 96: 92: 88: 82: 80: 73: 69: 66: 61: 56: 51: 47: 41: 36: 31: 19: 3729: 3697: 3537:Cytogenetics 3478:Human genome 3463: 3291:Human genome 3203:(9): 862–4. 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Index

Mitochondrial DNA (human)

mitochondrial genome
mtDNA control region
bp
No. of genes
non coding genes
Mitochondrial DNA
HGNC
Gene list
NCBI
Gene list
Ensembl
Chromosome MT
Entrez
Chromosome MT
NCBI
Chromosome MT
UCSC
Chromosome M
Full DNA sequences
RefSeq
NC_012920
FASTA
GenBank
J01415
FASTA

karyogram
human genome

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