Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA. The human mitochondrial genome is the entirety of hereditary information contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell.
A haplotype is a group of alleles in an organism that are inherited together from a single parent, and a haplogroup is a group of similar haplotypes that share a common ancestor with a single-nucleotide polymorphism mutation. More specifically, a haplotype is a combination of alleles at different chromosomal regions that are closely linked and tend to be inherited together. As a haplogroup consists of similar haplotypes, it is usually possible to predict a haplogroup from haplotypes. Haplogroups pertain to a single line of descent. As such, membership of a haplogroup, by any individual, relies on a relatively small proportion of the genetic material possessed by that individual.
The Cambridge Reference Sequence (CRS) for human mitochondrial DNA was first announced in 1981.
Haplogroup X is a human mitochondrial DNA (mtDNA) haplogroup. It is found in North America, Europe, Western Asia, North Africa, and the Horn of Africa.
Haplogroup M is a human mitochondrial DNA (mtDNA) haplogroup. An enormous haplogroup spanning all the continents, the macro-haplogroup M, like its sibling the macro-haplogroup N, is a descendant of the haplogroup L3.
Haplogroup K, formerly Haplogroup UK, is a human mitochondrial DNA (mtDNA) haplogroup. It is defined by the HVR1 mutations 16224C and 16311C. It is now known that K is a subclade of U8.
Haplogroup V is a human mitochondrial DNA (mtDNA) haplogroup. The clade is believed to have originated over 14,000 years ago in Southwestern Europe.
Haplogroup U is a human mitochondrial DNA haplogroup (mtDNA). The clade arose from haplogroup R, likely during the early Upper Paleolithic. Its various subclades are found widely distributed across Northern and Eastern Europe, Central, Western and South Asia, as well as North Africa, the Horn of Africa, and the Canary Islands.
In human mitochondrial genetics, Haplogroup C is a human mitochondrial DNA (mtDNA) haplogroup.
Haplogroup L2 is a human mitochondrial DNA (mtDNA) haplogroup with a widespread modern distribution, particularly in Subequatorial Africa. Its L2a subclade is a somewhat frequent and widely distributed mtDNA cluster on the continent, as well as among those in the Americas.
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.
Haplogroup JT is a human mitochondrial DNA (mtDNA) haplogroup.
The genetic history of Europe includes information around the formation, ethnogenesis, and other DNA-specific information about populations indigenous, or living in Europe.
In human genetics, Haplogroup IWX was a human mitochondrial DNA (mtDNA) haplogroup.
In the context of the recent African origin of modern humans, the Southern Dispersal scenario refers to the early migration along the southern coast of Asia, from the Arabian Peninsula via Persia and India to Southeast Asia and Oceania. Alternative names include the "southern coastal route" or "rapid coastal settlement", with later descendants of those migrations eventually colonizing the rest of Eastern Eurasia, the remainder of Oceania, and the Americas.
Haplogroup H is a human mitochondrial DNA (mtDNA) haplogroup. The clade is believed to have originated in Southwest Asia, near present day Syria, around 20,000 to 25,000 years ago. Mitochondrial haplogroup H is today predominantly found in Europe, and is believed to have evolved before the Last Glacial Maximum (LGM). It first expanded in the northern Near East and Southern Caucasus, and later migrations from Iberia suggest that the clade reached Europe before the Last Glacial Maximum. The haplogroup has also spread to parts of Africa, Siberia and Inner Asia. Today, around 40% of all maternal lineages in Europe belong to haplogroup H.
Haplogroup O mtDNA is a haplogroup derived from haplogroup N and found in Oceania. Specifically, it is found among Aboriginal Australians. Its defining mutations are G6755A, C9140T, and G16213A.
In human mitochondrial genetics, L is the mitochondrial DNA macro-haplogroup that is at the root of the anatomically modern human mtDNA phylogenetic tree. As such, it represents the most ancestral mitochondrial lineage of all currently living modern humans, also dubbed "Mitochondrial Eve".
Genetic studies of Jews are part of the population genetics discipline and are used to analyze the ancestry of Jewish populations, complementing research in other fields such as history, linguistics, archaeology, and paleontology. These studies investigate the origins of various Jewish ethnic divisions. In particular, they examine whether there is a common genetic heritage among them. The medical genetics of Jews are studied for population-specific diseases.
In paleoanthropology, the recent African origin of modern humans or the "Out of Africa" theory (OOA) is the most widely accepted model of the geographic origin and early migration of anatomically modern humans. It follows the early expansions of hominins out of Africa, accomplished by Homo erectus and then Homo neanderthalensis.
