Mitochondrial DNA Haplogroup
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Mitochondrial DNA Haplogroup
In human genetics, a human mitochondrial DNA haplogroup is a haplogroup defined by differences in human mitochondrial DNA. Haplogroups are used to represent the major branch points on the mitochondrial phylogenetic tree. Understanding the evolutionary path of the female lineage has helped population geneticists trace the matrilineal inheritance of modern humans back to human origins in Africa and the subsequent spread around the globe. The letter names of the haplogroups (not just mitochondrial DNA haplogroups) run from A to Z. As haplogroups were named in the order of their discovery, the alphabetical ordering does not have any meaning in terms of actual genetic relationships. The hypothetical woman at the root of all these groups (meaning just the mitochondrial DNA haplogroups) is the matrilineal most recent common ancestor (MRCA) for all currently living humans. She is commonly called Mitochondrial Eve. The rate at which mitochondrial DNA mutates is known as the mitochon ...
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MtDNA Haplogroup Distribution Among 2,054 Individuals Across 26 Populations From The 1000 Genomes Project
Mitochondrial DNA (mtDNA or mDNA) is the DNA located in mitochondria, cellular organelles within eukaryotic cells that convert chemical energy from food into a form that cells can use, such as adenosine triphosphate (ATP). Mitochondrial DNA is only a small portion of the DNA in a eukaryotic cell; most of the DNA can be found in the cell nucleus and, in plants and algae, also in plastids such as chloroplasts. Human mitochondrial DNA was the first significant part of the human genome to be sequenced. This sequencing revealed that the human mtDNA includes 16,569 base pairs and encodes 13 proteins. Since animal mtDNA evolves faster than nuclear genetic markers, it represents a mainstay of phylogenetics and evolutionary biology. It also permits an examination of the relatedness of populations, and so has become important in anthropology and biogeography. Origin Nuclear and mitochondrial DNA are thought to be of separate evolutionary origin, with the mtDNA being derived from t ...
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Haplogroup L0 (mtDNA)
Haplogroup L0 is a human mitochondrial DNA (mtDNA) haplogroup. Origin L0 is one of two branches from the most recent common ancestor (MRCA) for the shared human maternal lineage. The haplogroup consists of five main branches (L0a, L0b, L0d, L0f, L0k). Four of them were originally classified into L1 subclades, L1a, L1d, L1f and L1k. In 2014, ancient DNA analysis of a 2,330 year old male forager's skeleton in Southern Africa found that the specimen belonged to the L0d2c1c mtDNA subclade. This maternal haplogroup is today most closely associated with the Ju, a subgroup of the indigenous San people, which points to population continuity in the region. In 2016, a Late Iron Age desiccated mummy from the Tuli region in northern Botswana was also found to belong to haplogroup L0. Distribution L0 is found most commonly in Sub-Saharan Africa. It reaches its highest frequency in the Khoisan people at 73% on average. Some of the highest frequencies are: Namibia ( !Xun) 79%, South Africa ...
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Haplogroup A (mtDNA)
In human mitochondrial genetics, Haplogroup A is a human mitochondrial DNA (mtDNA) haplogroup. Origin Haplogroup A is believed to have arisen in Asia some 30,000–50,000 years BC. Its ancestral haplogroup was Haplogroup N. However, the extant diversity of mitochondrial genomes that belong to Haplogroup A is low relative to the degree of divergence from its nearest outgroups in haplogroup N, which suggests that extant members of Haplogroup A might be descended from a population that has emerged from a bottleneck approximately 20,000 years ago. Its highest frequencies are among Native Americans, its largest overall population is in East Asia, and its greatest variety (which suggests its origin point) is in East Asia. Thus, it might have originated in and spread from the Far East. Distribution Its subclade A2 shares a T16362C mutation with subclades A1 (found in Japan, Tashkurgan, Veliky Novgorod, Mongols, and Altaians), A6 (found in Tibet and in the Yangtze River basin), A12 ...
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Haplogroup Y (mtDNA)
In human mitochondrial genetics, Haplogroup Y is a human mitochondrial DNA (mtDNA) haplogroup. Origin Haplogroup Y is a descendant of haplogroup N9. Distribution Haplogroup Y has been found with high frequency in many indigenous populations who live around the Sea of Okhotsk, including approximately 66% of Nivkhs, approximately 43% of Ulchs, approximately 40% of Nanais, approximately 21% of Negidals, and approximately 20% of Ainus.M. A. Bermisheva, I. A. Kutuev, V. A. Spitsyn et al., "Analysis of Mitochondrial DNA Variation in the Population of Oroks", Russian Journal of Genetics, Vol. 41, No. 1, 2005, pp. 66–71. Translated from Genetika, Vol. 41, No. 1, 2005, pp. 78–84.Noboru Adachi, Ken-ichi Shinoda, Kazuo Umetsu, and Hirofumi Matsumura, "Mitochondrial DNA Analysis of Jomon Skeletons From the Funadomari Site, Hokkaido, and Its Implication for the Origins of Native American", American Journal of Physical Anthropology 138:255–265 (2009) It is also fairly common among indi ...
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Haplogroup W (mtDNA)
Haplogroup W is a human mitochondrial DNA (mtDNA) haplogroup. Origin Haplogroup W is believed to have originated around 23,900 years ago in Western Asia. It is descended from the haplogroup N2. Distribution Haplogroup W is found in Europe, Western Asia, and South Asia. It is widely distributed at low frequencies, with a high concentration in Northern Pakistan. Haplogroup W is also found in the Maghreb among Algerians (1.08%-3.23%)S5 Table/ref> and in Siberia among Yakuts (6/423 = 1.42%Sardana A Fedorova, Maere Reidla, Ene Metspalu, ''et al.'', "Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia." ''BMC Evolutionary Biology'' 2013, 13:127. http://www.biomedcentral.com/1471-2148/13/127). Additionally, the clade has been observed among ancient Egyptian mummies excavated at the Abusir el-Meleq archaeological site in Middle Egypt, which date from the Ptolemaic Kingdom. The W5 subclade has been foun ...
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Haplogroup N2 (mtDNA)
Haplogroup N is a human mitochondrial DNA (mtDNA) clade. A macrohaplogroup, its descendant lineages are distributed across many continents. Like its sibling macrohaplogroup M, macrohaplogroup N is a descendant of the haplogroup L3. All mtDNA haplogroups found outside of Africa are descendants of either haplogroup N or its sibling haplogroup M. M and N are the signature maternal haplogroups that define the theory of the recent African origin of modern humans and subsequent early human migrations around the world. The global distribution of haplogroups N and M indicates that there was likely at least one major prehistoric migration of humans out of Africa, with both N and M later evolving outside the continent. Origins There is widespread agreement in the scientific community concerning the African ancestry of haplogroup L3 (haplogroup N's parent clade). However, whether or not the mutations which define haplogroup N itself first occurred within Asia or Africa has been a subject ...
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Haplogroup I (mtDNA)
Haplogroup I is a human mitochondrial DNA (mtDNA) haplogroup. It is believed to have originated about 21,000 years ago, during the Last Glacial Maximum (LGM) period in West Asia (; ; ). The haplogroup is unusual in that it is now widely distributed geographically, but is common in only a few small areas of East Africa, West Asia and Europe. It is especially common among the El Molo and Rendille peoples of Kenya, various regions of Iran, the Lemko people of Slovakia, Poland and Ukraine, the island of Krk in Croatia, the department of Finistère in France and some parts of Scotland and Ireland. Origin Haplogroup I is a descendant (subclade) of haplogroup N1a1b and sibling of haplogroup N1a1b1 . It is believed to have arisen somewhere in West Asia between 17,263 and 24,451 years before present (BP) , with coalescence age of 20.1 thousand years ago . It has been suggested that its origin may be in Iran or more generally the Near East . It has diverged to at least seven distinct clad ...
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Haplogroup N1 (mtDNA)
Haplogroup N is a human mitochondrial DNA (mtDNA) clade. A macrohaplogroup, its descendant lineages are distributed across many continents. Like its sibling macrohaplogroup M, macrohaplogroup N is a descendant of the haplogroup L3. All mtDNA haplogroups found outside of Africa are descendants of either haplogroup N or its sibling haplogroup M. M and N are the signature maternal haplogroups that define the theory of the recent African origin of modern humans and subsequent early human migrations around the world. The global distribution of haplogroups N and M indicates that there was likely at least one major prehistoric migration of humans out of Africa, with both N and M later evolving outside the continent. Origins There is widespread agreement in the scientific community concerning the African ancestry of haplogroup L3 (haplogroup N's parent clade). However, whether or not the mutations which define haplogroup N itself first occurred within Asia or Africa has been a subject ...
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Haplogroup N (mtDNA)
Haplogroup N is a human mitochondrial DNA (mtDNA) clade. A macrohaplogroup, its descendant lineages are distributed across many continents. Like its sibling macrohaplogroup M, macrohaplogroup N is a descendant of the haplogroup L3. All mtDNA haplogroups found outside of Africa are descendants of either haplogroup N or its sibling haplogroup M. M and N are the signature maternal haplogroups that define the theory of the recent African origin of modern humans and subsequent early human migrations around the world. The global distribution of haplogroups N and M indicates that there was likely at least one major prehistoric migration of humans out of Africa, with both N and M later evolving outside the continent. Origins There is widespread agreement in the scientific community concerning the African ancestry of haplogroup L3 (haplogroup N's parent clade). However, whether or not the mutations which define haplogroup N itself first occurred within Asia or Africa has been a subject ...
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Haplogroup L3 (mtDNA)
Haplogroup L3 is a human mitochondrial DNA (mtDNA) haplogroup. The clade has played a pivotal role in the early dispersal of anatomically modern humans. It is strongly associated with the out-of-Africa migration of modern humans of about 70–50,000 years ago. It is inherited by all modern non-African populations, as well as by some populations in Africa. Origin Haplogroup L3 arose close to 70,000 years ago, near the time of the recent out-of-Africa event. This dispersal originated in East Africa and expanded to West Asia, and further to South and Southeast Asia in the course of a few millennia, and some research suggests that L3 participated in this migration out of Africa. A 2007 estimate for the age of L3 suggested a range of 104–84,000 years ago. More recent analyses, including Soares et al. (2012) arrive at a more recent date, of roughly 70–60,000 years ago. Soares et al. also suggest that L3 most likely expanded from East Africa into Eurasia sometime around 65–55, ...
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Haplogroup L4 (mtDNA)
Haplogroup L4 is a human mitochondrial DNA (mtDNA) haplogroup. It is a small maternal clade primarily restricted to Africa. L4 is important in East Africa. The highest frequencies are in Tanzania Tanzania (; ), officially the United Republic of Tanzania ( sw, Jamhuri ya Muungano wa Tanzania), is a country in East Africa within the African Great Lakes region. It borders Uganda to the north; Kenya to the northeast; Comoro Islands and ... among the Hadza at 60-83% and Sandawe at 48%. It has two branches, L4a and L4b. Subgroup L4a was formerly called L7 and considered a separate subclade of L3'4'7. It has been recognized as a subclade of L4, with L3 as its outgroup by Behar et al. (2008). The parent clade L3'4 is to have emerged at 106–66 kya. L4 is not much later than this, estimated at 87 kya by Fernandes et al. (2015).Fernandes V, Triska P, Pereira JB, Alshamali F, Rito T, Machado A, et al. (2015) Genetic Stratigraphy of Key Demographic Events in Arabia. P ...
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Haplogroup L6 (mtDNA)
In human mitochondrial genetics, Haplogroup L6 is a human mitochondrial DNA (mtDNA) haplogroup. It is a small African haplogroup. Distribution This haplogroup has been found most often in Yemen and Ethiopia. Subclades Tree This phylogenetic tree of haplogroup M subclades is based on the paper by Mannis van Oven and Manfred Kayser ''Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation'' and subsequent published research. *L3'4'6 **L6 ***L6a ***L6b See also *Genealogical DNA test * Genetic genealogy *Human mitochondrial genetics *Population genetics *Human mitochondrial DNA haplogroups Humans (''Homo sapiens'') are the most abundant and widespread species of primate, characterized by bipedalism and exceptional cognitive skills due to a large and complex brain. This has enabled the development of advanced tools, culture, ... References External links *General **Ian Logan'Mitochondrial DNA Site**Mannis van Oven'Phylotree L6 ...
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