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In biology and genetic genealogy, the most recent common ancestor (MRCA), also known as the last common ancestor (LCA), of a set of organisms is the most recent individual from which all the organisms of the set are descended. The term is also used in reference to the ancestry of groups of genes (haplotypes) rather than organisms.
The MRCA of a set of individuals can sometimes be determined by referring to an established pedigree. However, in general, it is impossible to identify the exact MRCA of a large set of individuals, but an estimate of the time at which the MRCA lived can often be given. Such time to most recent common ancestor (TMRCA) estimates can be given based on DNA test results and established mutation rates as practiced in genetic genealogy, or by reference to a non-genetic, mathematical model or computer simulation.
In organisms using sexual reproduction, the matrilineal MRCA and patrilineal MRCA are the MRCAs of a given population considering only matrilineal and patrilineal descent, respectively. The MRCA of a population by definition cannot be older than either its matrilineal or its patrilineal MRCA. In the case of Homo sapiens , the matrilineal and patrilineal MRCA are also known as "Mitochondrial Eve" (mt-MRCA) and "Y-chromosomal Adam" (Y-MRCA) respectively. The age of the human MRCA is unknown. It is no greater than the age of either the Y-MRCA or the mt-MRCA, estimated at around 200,000 years.
Unlike in pedigrees of individual humans or domesticated lineages where historical parentage is known, in the inference of relationships among species or higher groups of taxa (systematics or phylogenetics), ancestors are not directly observable or recognizable. They are inferences based on patterns of relationship among taxa inferred in a phylogenetic analysis of extant organisms and/or fossils. [1]
The last universal common ancestor (LUCA) is the most recent common ancestor of all current life on Earth, estimated to have lived some 3.5 to 3.8 billion years ago (in the Paleoarchean). [2] [3] [note 1]
The project of a complete description of the phylogenetic relationships among all biological species is dubbed the "tree of life". This involves inference of ages of divergence for all hypothesized clades; for example, the MRCA of all Carnivora (cats, dogs, etc) is estimated to have diverged some 42 million years ago (Miacidae). [6]
The concept of the last common ancestor from the perspective of human evolution is described for a popular audience in The Ancestor's Tale by Richard Dawkins (2004). Dawkins lists "concestors" of the human lineage in order of increasing age, including hominin (human– chimpanzee), hominine (human– gorilla), hominid (human– orangutan), hominoid (human– gibbon), and so on in 40 stages in total, down to the last universal common ancestor (human– bacteria).
It is also possible to consider the ancestry of individual genes (or groups of genes, haplotypes) instead of an organism as a whole. Coalescent theory describes a stochastic model of how the ancestry of such genetic markers maps to the history of a population.
Unlike organisms, a gene is passed down from a generation of organisms to the next generation either as perfect replicas of itself or as slightly mutated descendant genes. While organisms have ancestry graphs and progeny graphs via sexual reproduction, a gene has a single chain of ancestors and a tree of descendants. An organism produced by sexual cross-fertilization (allogamy) has at least two ancestors (its immediate parents), but a gene always has one ancestor per generation.
Mitochondrial DNA (mtDNA) is nearly immune to sexual mixing, unlike the nuclear DNA whose chromosomes are shuffled and recombined in Mendelian inheritance. Mitochondrial DNA, therefore, can be used to trace matrilineal inheritance and to find the Mitochondrial Eve (also known as the African Eve), the most recent common ancestor of all humans via the mitochondrial DNA pathway.
Likewise, Y chromosome is present as a single sex chromosome in the male individual and is passed on to male descendants without recombination. It can be used to trace patrilineal inheritance and to find the Y-chromosomal Adam, the most recent common ancestor of all humans via the Y-DNA pathway.
Approximate dates for Mitochondrial Eve and Y-chromosomal Adam have been established by researchers using genealogical DNA tests. Mitochondrial Eve is estimated to have lived about 200,000 years ago. A paper published in March 2013 determined that, with 95% confidence and that provided there are no systematic errors in the study's data, Y-chromosomal Adam lived between 237,000 and 581,000 years ago. [7] [8]
The MRCA of all humans alive today would, therefore, need to have lived more recently than either. [9] [note 2]
It is more complicated to infer human ancestry via autosomal chromosomes. Although an autosomal chromosome contains genes that are passed down from parents to children via independent assortment from only one of the two parents, genetic recombination (chromosomal crossover) mixes genes from non-sister chromatids from both parents during meiosis, thus changing the genetic composition of the chromosome.
Different types of MRCAs are estimated to have lived at different times in the past. These time to MRCA (TMRCA) estimates are also computed differently depending on the type of MRCA being considered. Patrilineal and matrilineal MRCAs (Mitochondrial Eve and Y-chromosomal Adam) are traced by single gene markers, thus their TMRCA are computed based on DNA test results and established mutation rates as practiced in genetic genealogy. The time to the genealogical MRCA (most recent common ancestor by any line of descent) of all living humans cannot be traced genetically because the DNA of the great majority of ancestors is completely lost after a few hundred years. It is therefore computed based on non-genetic, mathematical models and computer simulations.
Since Mitochondrial Eve and Y-chromosomal Adam are traced by single genes via a single ancestral parent line, the time to these genetic MRCAs will necessarily be greater than that for the genealogical MRCA. This is because single genes will coalesce more slowly than tracing of conventional human genealogy via both parents. The latter considers only individual humans, without taking into account whether any gene from the computed MRCA actually survives in every single person in the current population. [11]
Mitochondrial DNA can be used to trace the ancestry of a set of populations. In this case, populations are defined by the accumulation of mutations on the mtDNA, and special trees are created for the mutations and the order in which they occurred in each population. The tree is formed through the testing of a large number of individuals all over the world for the presence or lack of a certain set of mutations. Once this is done it is possible to determine how many mutations separate one population from another. The number of mutations, together with estimated mutation rate of the mtDNA in the regions tested, allows scientists to determine the approximate time to MRCA (TMRCA) which indicates time passed since the populations last shared the same set of mutations or belonged to the same haplogroup.
In the case of Y-Chromosomal DNA, TMRCA is arrived at in a different way. Y-DNA haplogroups are defined by single-nucleotide polymorphism in various regions of the Y-DNA. The time to MRCA within a haplogroup is defined by the accumulation of mutations in STR sequences of the Y-Chromosome of that haplogroup only. Y-DNA network analysis of Y-STR haplotypes showing a non-star cluster indicates Y-STR variability due to multiple founding individuals. Analysis yielding a star cluster can be regarded as representing a population descended from a single ancestor. In this case the variability of the Y-STR sequence, also called the microsatellite variation, can be regarded as a measure of the time passed since the ancestor founded this particular population. The descendants of Genghis Khan or one of his ancestors represents a famous star cluster that can be dated back to the time of Genghis Khan. [12]
TMRCA calculations are considered critical evidence when attempting to determine migration dates of various populations as they spread around the world. For example, if a mutation is deemed to have occurred 30,000 years ago, then this mutation should be found amongst all populations that diverged after this date. If archeological evidence indicates cultural spread and formation of regionally isolated populations then this must be reflected in the isolation of subsequent genetic mutations in this region. If genetic divergence and regional divergence coincide it can be concluded that the observed divergence is due to migration as evidenced by the archaeological record. However, if the date of genetic divergence occurs at a different time than the archaeological record, then scientists will have to look at alternate archaeological evidence to explain the genetic divergence. The issue is best illustrated in the debate surrounding the demic diffusion versus cultural diffusion during the European Neolithic. [13]
The age of the MRCA of all living humans is unknown. It is necessarily younger than the age of either the matrilinear or the patrilinear MRCA, both of which have an estimated age of between roughly 100,000 and 200,000 years ago. [14]
A study by mathematicians Joseph T. Chang, Douglas Rohde and Steve Olson used a theoretical model to calculate that the MRCA may have lived remarkably recently, possibly as recently as 2,000 years ago. It concludes that the MRCA of all humans probably lived in East Asia, which would have given them key access to extremely isolated populations in Australia and the Americas. Possible locations for the MRCA include places such as the Chuckchi and Kamchatka Peninsulas that are close to Alaska, places such as Indonesia and Malaysia that are close to Australia or a place such as Taiwan or Japan that is more intermediate to Australia and the Americas. European colonization of the Americas and Australia was found by Chang to be too recent to have had a substantial impact on the age of the MRCA. In fact, if the Americas and Australia had never been discovered by Europeans, the MRCA would only be about 2.3% further back in the past than it is. [15] [16] [17]
Note that the age of the MRCA of a population does not correspond to a population bottleneck, let alone a "first couple". It rather reflects the presence of a single individual with high reproductive success in the past, whose genetic contribution has become pervasive throughout the population over time. It is also incorrect to assume that the MRCA passed all, or indeed any, genetic information to every living person. Through sexual reproduction, an ancestor passes half of his or her genes to each descendant in the next generation; in the absence of pedigree collapse, after just 32 generations the contribution of a single ancestor would be on the order of 2−32, a number proportional to less than a single basepair within the human genome. [18]
The MRCA is the most recent common ancestor shared by all individuals in the population under consideration. This MRCA may well have contemporaries who are also ancestral to some but not all of the extant population. The identical ancestors point is a point in the past more remote than the MRCA at which time there are no longer organisms which are ancestral to some but not all of the modern population. Due to pedigree collapse, modern individuals may still exhibit clustering, due to vastly different contributions from each of ancestral population. [19]
Patrilineality, also known as the male line, the spear side or agnatic kinship, is a common kinship system in which an individual's family membership derives from and is recorded through their father's lineage. It generally involves the inheritance of property, rights, names, or titles by persons related through male kin. This is sometimes distinguished from cognate kinship, through the mother's lineage, also called the spindle side or the distaff side.
In human genetics, the Mitochondrial Eve is the matrilineal most recent common ancestor (MRCA) of all living humans. In other words, she is defined as the most recent woman from whom all living humans descend in an unbroken line purely through their mothers and through the mothers of those mothers, back until all lines converge on one woman.
In human genetics, the Y-chromosomal most recent common ancestor is the patrilineal most recent common ancestor (MRCA) from whom all currently living humans are descended. He is the most recent male from whom all living humans are descended through an unbroken line of their male ancestors. The term Y-MRCA reflects the fact that the Y chromosomes of all currently living human males are directly derived from the Y chromosome of this remote ancestor. The analogous concept of the matrilineal most recent common ancestor is known as "Mitochondrial Eve", the most recent woman from whom all living humans are descended matrilineally. As with "Mitochondrial Eve", the title of "Y-chromosomal Adam" is not permanently fixed to a single individual, but can advance over the course of human history as paternal lineages become extinct.
Y-chromosomal Aaron is the name given to the hypothesized most recent common ancestor of the patrilineal Jewish priestly caste known as Kohanim. According to the traditional understanding of the Hebrew Bible, this ancestor was Aaron, the brother of Moses.
A haplotype is a group of alleles in an organism that are inherited together from a single parent.
Genetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to infer genetic relationships between individuals. This application of genetics came to be used by family historians in the 21st century, as DNA tests became affordable. The tests have been promoted by amateur groups, such as surname study groups or regional genealogical groups, as well as research projects such as the Genographic Project.
A genealogical DNA test is a DNA-based genetic test used in genetic genealogy that looks at specific locations of a person's genome in order to find or verify ancestral genealogical relationships, or to estimate the ethnic mixture of an individual. Since different testing companies use different ethnic reference groups and different matching algorithms, ethnicity estimates for an individual vary between tests, sometimes dramatically.
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 that 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.
Molecular anthropology, also known as genetic anthropology, is the study of how molecular biology has contributed to the understanding of human evolution. This field of anthropology examines evolutionary links between ancient and modern human populations, as well as between contemporary species. Generally, comparisons are made between sequences, either DNA or protein sequences; however, early studies used comparative serology.
Haplogroup A is a human Y-chromosome DNA haplogroup, which includes all living human Y chromosomes. Bearers of extant sub-clades of haplogroup A are almost exclusively found in Africa, in contrast with haplogroup BT, bearers of which participated in the Out of Africa migration of early modern humans. The known branches of haplogroup A are A00, A0, A1a, and A1b1; these branches are only very distantly related, and are not more closely related to each other than they are to haplogroup BT.
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.
A surname DNA project is a genetic genealogy project which uses genealogical DNA tests to trace male lineage.
Human evolutionary genetics studies how one human genome differs from another human genome, the evolutionary past that gave rise to the human genome, and its current effects. Differences between genomes have anthropological, medical, historical and forensic implications and applications. Genetic data can provide important insights into human evolution.
Haplogroup L0 is a human mitochondrial DNA (mtDNA) haplogroup.
Haplogroup DE is a human Y-chromosome DNA haplogroup. It is defined by the single nucleotide polymorphism (SNP) mutations, or UEPs, M1(YAP), M145(P205), M203, P144, P153, P165, P167, P183. DE is unique because it is distributed in several geographically distinct clusters. An immediate subclade, haplogroup D, is mainly found in East Asia, parts of Central Asia, and the Andaman Islands, but also sporadically in West Africa and West Asia. The other immediate subclade, haplogroup E, is common in Africa, and to a lesser extent the Middle East and southern Europe.
Haplogroup G-M377 is a Y-chromosome haplogroup defined by the presence of the M377 mutation. It is a subclade of Haplogroup G2b-M3115, which in turn is defined by the M3115 mutation.
The human mitochondrial molecular clock is the rate at which mutations have been accumulating in the mitochondrial genome of hominids during the course of human evolution. The archeological record of human activity from early periods in human prehistory is relatively limited and its interpretation has been controversial. Because of the uncertainties from the archeological record, scientists have turned to molecular dating techniques in order to refine the timeline of human evolution. A major goal of scientists in the field is to develop an accurate hominid mitochondrial molecular clock which could then be used to confidently date events that occurred during the course of human evolution.
Haplogroup C-M48 also known as C2b1a2 is a Y-chromosome DNA haplogroup.
This glossary of genetics and evolutionary biology is a list of definitions of terms and concepts used in the study of genetics and evolutionary biology, as well as sub-disciplines and related fields, with an emphasis on classical genetics, quantitative genetics, population biology, phylogenetics, speciation, and systematics. It has been designed as a companion to Glossary of cellular and molecular biology, which contains many overlapping and related terms; other related glossaries include Glossary of biology and Glossary of ecology.
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