Mitochondrial Eve

Female and mitochondrial ancestry

Without a DNA sample, it is not possible to reconstruct the complete genetic makeup (genome) of any individual who died very long ago. By analysing descendants' DNA, however, parts of ancestral genomes are estimated by scientists. Mitochondrial DNA (mtDNA, the DNA located in mitochondria, different from the DNA in the nucleus of a cell) and Y-chromosome DNA are commonly used to trace ancestry in this manner. mtDNA is generally passed un-mixed from mothers to children of both sexes, along the maternal line, or matrilineally. Matrilineal descent goes back through mothers, to their mothers, until all female lineages converge.

Branches are identified by one or more unique markers which give a mitochondrial "DNA signature" or "haplotype" (e.g. the CRS is a haplotype). Each marker is a DNA base-pair that has resulted from an SNP mutation. Scientists sort mitochondrial DNA results into more or less related groups, with more or less recent common ancestors. This leads to the construction of a DNA family tree where the branches are in biological terms clades, and the common ancestors such as Mitochondrial Eve sit at branching points in this tree. Major branches are said to define a haplogroup (e.g. CRS belongs to haplogroup H), and large branches containing several haplogroups are called "macro-haplogroups".

The mitochondrial clade which Mitochondrial Eve defines is the species Homo sapiens sapiens itself, or at least the current population or "chronospecies" as it exists today. In principle, earlier Eves can also be defined going beyond the species, for example one who is ancestral to both modern humanity and Neanderthals, or, further back, an "Eve" ancestral to all members of genus Homo and chimpanzees in genus Pan. According to current nomenclature, Mitochondrial Eve's haplogroup was within mitochondrial haplogroup L because this macro-haplogroup contains all surviving human mitochondrial lineages today, and she must predate the emergence of L0.

The variation of mitochondrial DNA between different people can be used to estimate the time back to a common ancestor, such as Mitochondrial Eve. This works because, along any particular line of descent, mitochondrial DNA accumulates mutations at the rate of approximately one every 3,500 years. A certain number of these new variants will survive into modern times and be identifiable as distinct lineages. At the same time some branches, including even very old ones, come to an end when the last family in a distinct branch has no daughters.

Mitochondrial Eve is the most recent common matrilineal ancestor for all modern humans. Whenever one of the two most ancient branch lines dies out (by producing only non-matrilinear descendants at that time), the MRCA will move to a more recent female ancestor, always the most recent mother to have more than one daughter with living maternal line descendants alive today. The number of mutations that can be found distinguishing modern people is determined by two criteria: first and most obviously, the time back to her, but second and less obviously by the varying rates at which new branches have come into existence and old branches have become extinct. By looking at the number of mutations which have been accumulated in different branches of this family tree, and looking at which geographical regions have the widest range of least related branches, the region where Eve lived can be proposed.

Popular reception and misconceptions

Newsweek reported on Mitochondrial Eve based on the Cann et al. study in January 1988, under a heading of "Scientists Explore a Controversial Theory About Man's Origins". The edition sold a record number of copies.

The popular name "mitochondrial Eve", of 1980s coinage, has contributed to a number of popular misconceptions. At first, the announcement of a "mitochondrial Eve" was even greeted with endorsement from young Earth creationists, who viewed the theory as a validation of the biblical creation story.

Due to such misunderstandings, authors of popular science publications since the 1990s have been emphatic in pointing out that the name is merely a popular convention, and that the mt-MRCA was not in any way the "first woman". Her position is purely the result of genealogical history of human populations later, and as matrilineal lineages die out, the position of mt-MRCA keeps moving forward to younger individuals over time.

In River Out of Eden (1995), Richard Dawkins discussed human ancestry in the context of a "river of genes", including an explanation of the concept of Mitochondrial Eve. The Seven Daughters of Eve (2002) presented the topic of human mitochondrial genetics to a general audience. The Real Eve: Modern Man's Journey Out of Africa by Stephen Oppenheimer (2003) was adapted into a 2002 Discovery Channel documentary.

Not the only woman

One common misconception surrounding Mitochondrial Eve is that since all women alive today descended in a direct unbroken female line from her, she must have been the only woman alive at the time. However, nuclear DNA studies indicate that the effective population size of ancient humans never dropped below tens of thousands. Other women living during Eve's time may have descendants alive today but not in a direct female line.

Not a fixed individual over time

The definition of Mitochondrial Eve is fixed, but the woman in prehistory who fits this definition can change. That is, not only can our knowledge of when and where Mitochondrial Eve lived change due to new discoveries, but the actual Mitochondrial Eve can change. The Mitochondrial Eve can change, when a mother-daughter line comes to an end. It follows from the definition of Mitochondrial Eve that she had at least two daughters who both have unbroken female lineages that have survived to the present day. In every generation mitochondrial lineages end – when a woman with unique mtDNA dies with no daughters. When the mitochondrial lineages of daughters of Mitochondrial Eve die out, then the title of "Mitochondrial Eve" shifts forward from the remaining daughter through her matrilineal descendants, until the first descendant is reached who had two or more daughters who together have all living humans as their matrilineal descendants. Once a lineage has died out it is irretrievably lost and this mechanism can thus only shift the title of "Mitochondrial Eve" forward in time.

Because mtDNA mapping of humans is very incomplete, the discovery of living mtDNA lines which predate our current concept of "Mitochondrial Eve" could result in the title moving to an earlier woman. This happened to her male counterpart, "Y-chromosomal Adam", when an older Y line, haplogroup A-00, was discovered.

Not necessarily a contemporary of "Y-chromosomal Adam"

Sometimes Mitochondrial Eve is assumed to have lived at the same time as Y-chromosomal Adam (from whom all living males are descended patrilineally), and perhaps even met and mated with him. Even if this were true, which is currently regarded as highly unlikely, this would only be a coincidence. Like Mitochondrial "Eve", Y-chromosomal "Adam" probably lived in Africa. A recent study (March 2013) concluded however that "Eve" lived much later than "Adam" – some 140,000 years later. (Earlier studies considered, conversely, that "Eve" lived earlier than "Adam".) More recent studies indicate that it is not impossible that Mitochondrial Eve and Y-chromosomal Adam might have lived around the same time.

Not the most recent ancestor shared by all humans

Mitochondrial Eve is the most recent common matrilineal ancestor, not the most recent common ancestor. Since the mtDNA is inherited maternally and recombination is either rare or absent, it is relatively easy to track the ancestry of the lineages back to a MRCA; however, this MRCA is valid only when discussing mitochondrial DNA. An approximate sequence from newest to oldest can list various important points in the ancestry of modern human populations:

• The human MRCA. The time period that human MRCA lived in is unknown. Rohde et al put forth a "rough guess" that the MRCA could have existed 5000 years ago; however, the authors state that this estimate is "extremely tentative, and the model contains several obvious sources of error, as it was motivated more by considerations of theoretical insight and tractability than by realism." Just a few thousand years before the most recent single ancestor shared by all living humans was the time at which all humans who were then alive either left no descendants alive today or were common ancestors of all humans alive today. However, such a late date is difficult to reconcile with the geographical spread of our species and the consequent isolation of different groups from each other. For example, it is generally accepted that the indigenous population of Tasmania was isolated from all other humans between the rise in sea level after the last ice age some 8000 years ago and the arrival of Europeans. Estimates of the MRCA of even closely related human populations have been much more than 5000 years ago.
• The identical ancestors point. In other words, "each present-day human has exactly the same set of genealogical ancestors" alive at the "identical ancestors point" in time. This is far more recent than when Mitochondrial Eve was proposed to have lived.
• Mitochondrial Eve, the most recent female-line common ancestor of all living people.
• "Y-chromosomal Adam", the most recent male-line common ancestor of all living people.

Misconception of statistical improbability

It may seem improbable that, among the many women alive at the time of the most recent common matrilineal ancestor of all living humans (“mitochondrial Eve”), only a single maternal lineage has survived to the present. This intuition may rest on the assumption that human populations were large and persistently growing, conditions under which multiple lineages would be expected to persist. In contrast, archaeological and genetic evidence indicates that for much of the Late Pleistocene, human populations were relatively small, geographically structured, and subject to substantial fluctuations rather than sustained growth. Under such conditions, effective population size is limited and genetic drift leads to the continual loss of lineages over time. In contrast, after the development of agriculture (~10,000 BCE), the circumstances changed such that there has been sustained population growth with a substantially larger population size by comparison to earlier periods. In population genetics, the expected time to common ancestry increases with effective population size and is further extended in expanding populations, so that multiple lineages persist over long periods rather than rapidly coalescing. More to the point, in branching-process theory, when the mean number of offspring exceeds one, lineages have a positive probability of persisting indefinitely; with many initial lineages, this implies that multiple lineages are expected to persist rather than being reduced to a single surviving line. That statistical fact, being the basis of the probabilistic intuition described above, does not apply to the population conditions that existed during the relevant time period, the Pleistocene Epoch.