Mitochondrial Eve
A comparison of the
mitochondrial DNA of humans from many races and regions
suggests that all of these
DNA sequences have
evolved molecularly from a common ancestor sequence.
Under the assumption that an individual inherits
mitochondria only from his or her mother, this finding
implies that all living humans descend from one woman -
possibly one pre-human woman - who researchers have dubbed
Mitochondrial Eve.
Based on the
molecular clock technique, Eve is believed to have lived
about 150,000 years ago.
Family trees suggest she lived in
Africa.
Although researchers named her after the Biblical
Eve, mitochondrial Eve was not the sole living female of
her day. Researchers believe as many as 20,000 individuals
of Eve's species may have lived at the same time as her. But
of the females of her day, only Eve produced an unbroken
line of daughters that persists today. As a result, only
Eve's mitochondria have descendants in the
cells of living humans, and only from Eve do all living
people descend along their maternal lines.
Chain of eventsThis surprising circumstance is assumed to be an
effect of chance rather than
selection. Essentially, the hypothesized process by
which all lineages but one disappear is the same as the
genetic drift of alleles. As with genetic drift, the
process is much slower and much less likely to reach
completion in a large population than in a
small one. If Eve had lived among a million or a
billion other females, it is very unlikely that the
matralineal ancestries of all humans alive
today would converge on Eve (or any one contemporary of
Eve's).
Why might the community of Eve's peers have been so
small? One possibility is that the world population of
humans in Eve's day passed through a
bottleneck. Another is that Eve lived in a
subpopulation of humans that came to supplant all others.
A still more extreme version of this latter scenario is
that Eve lived shortly after whatever isolating event
caused the
speciation of
anatomically modern humans. Of the ancient "hominoid"
remains discovered so far, in fact, the oldest that
match the bones of living humans date from around the
time that Eve lived.
Relation to Adam
On the other hand, the most recent common ancestor to
father an unbroken line of males, " Y-chromosome
Adam," appears to have lived only about half as long
ago as Eve. This means that another bottleneck, besides
the one surrounding Eve, affected the human lineage
after her. The fact that the bottleneck in Adam's day
appears not to have produced also a matrilineal ancestor
of all living humans - a more recent Eve, in other words
- illustrates that the branching and disappearance of
lineages depends on chance (alternatively, male lineages
may dwindle faster, perhaps due to a history of polygamy,
which would have allowed only a proportion of males to
produce offspring). Some researchers say evidence of
this second bottleneck exists also in the mitochondrial
DNA data. It is also possible that the mismatched dates
of Eve and Adam may illustrate the imperfectness of the
molecular clock technique, which continues to undergo
revisions.
Challenges to the theory
A recent challenge to the Eve theory has been the
observation that the mitochondria of
sperm are sometimes passed to offspring. Still other
evidence suggests that sperm and egg mitochondrial DNA
may
"recombine, or swap pieces of sequence with each
other. So mitochondria may not be so pure a matrilineal
marker as they were supposed when the theory was
advanced. Depending on how frequently paternal
inheritance and recombination occurred, as well as when
they occurred, it may be that no Eve even existed. But
scientists still disagree on whether these processes do
occur, and if it turns out that they do, they may not
occur frequently enough to make Eve or her
identification impossible.
Eve and the Out-of-Africa theory
Mitochondrial Eve is sometimes referred to as
African Eve, an ancestor who has been
hypothesized on the grounds of fossil as well as DNA evidence. According to the
most common interpretation of the mitochondrial DNA
data, the titles belong to the same hypothetical woman.
Family trees (or "phylogenies") constructed on the basis
of mitochondrial DNA comparisons show that the living
humans whose mitochondrial lineages branched earliest
from the tree are indigenous Africans, whereas the
lineages of indigenous peoples on other continents all
branch off from African lines. Researchers therefore
reason that all living humans descend from Africans,
some of whom migrated out of Africa to populate the rest
of the world. If the mitochondrial analysis is correct,
then because mitochondrial Eve represents the root of
the mitochondrial family tree, she must have predated
the exodus and lived in Africa. Therefore many
researchers take the mitochondrial evidence as support
for the "single-origin" or
Out-of-Africa model.
The construction of family trees from DNA data is an
inexact science, however. In the past, critics of the
Out of Africa model have argued that the mitochondrial
evidence can be explained as well or better by trees
that associate Eve most closely to the indigenous
peoples of other continents. As of 2003, however,
following advances in computing power and in methods of
tree determination, these criticisms have diminished. In
any event, the strongest support that mitochondrial DNA
offers for the Out of Africa hypothesis may not depend
on trees. One finding not subject to interpretation is
that the greatest diversity of mitochondrial DNA
sequences exists among Africans. This diversity would
not have accumulated, researchers argue, if humans had
not been living longer in Africa than anywhere else.
Analysis of
Y chromosome sequences have corroborated the
evidence that mitochondrial DNA has provided for an
African origin.
Y-chromosomal Adam
In human
genetics, Y-chromosomal Adam is the
male counterpart to
mitochondrial Eve: a real or hypothetical single
male human ancestor from whom all male Y chromosomes are
descended. Unlike other genes, those of the Y chromosome
are passed exclusively from father to son, just as
mitochondrial DNA is passed to children exclusively
by their mothers.
If such a person existed, he probably lived between
35,000 and 90,000 years ago years ago, judging from
molecular clock studies. While their descendants
certainly became close intimates, Y-chromosomal Adam and
mitochondrial Eve themselves never met: rather, they
lived many thousands of years apart. They are named
after the characters called "Adam" and "Eve" in
Genesis, but should not be identified with them.
Based on the DNA of peoples living in Africa today, both
Y-chromosomal Adam and mitochondrial Eve are believed to
have lived in Africa.
More on the process by which many lineages winnow
down to one can be found in the article on
mitochondrial Eve, which also elaborates on how Adam
and Eve relate to the
Out-of-Africa theory of human evolution.
Mitochondrial genome
The mitochondrial genome is the genetic
material of the mitochondria. The mitochondria are
organelles that reproduce themselves semi-autonomously when
the eukaryotic cells that they occupy divide.
The genetic material forming the mitochondrial genome is
similar in structure to that of the prokaryotic genetic
material. It is formed of a single circular DNA molecule.
The mitochondria of a sexually-reproducing animal comes
only from the mother's side. The mitochondrial DNA of a
human being is essentially the same as that of his or her
mother.
In this way, mitochondrial genetic diseases can affect
both males and females, but can only be transmitted by
females to their offspring.
Compared to the nuclear genome, the mitochondrial genome
possesses some very interesting features:
- All the genes are carried on a single circular DNA
molecule.
- The genetic material is not bounded by a nuclear
envelope.
- The DNA is not packed with proteins.
- The genome doesn't contain a lot of non-coding (junk
DNA) areas.
- Some codons do not follow the universal rules in
translation.
- Some bases are considered as a part of two different
genes: as the last base of a gene and the first base of
the next gene.
Mitochondrial DNA
Mitochondrial DNA is DNA which is located
not in the nucleus of the cell but in the mitochondria. It
has been widely believed that mitochondrial DNA is always
passed on to offspring solely by the mother, although it has
been reported that it can also occasionally be inherited
from the father (Schwartz and Vissing, 2002).
It appears that the mitochondria in mammalian sperm are
usually destroyed by the egg cell after fertilization. In
1999 it was reported that paternal sperm mitochondria (containing
mt DNA) are marked with ubiquitin to select them for later
destruction inside the embryo (Sutovsky et. al. 1999).
Occasionally this process goes wrong, for example in
inter-species hybrids.
Mitochondrial DNA has been studied to trace lineage far
back in time. Svante Pääbo has
published studies tracing the ancestry of domestic dogs to 4
individuals. The concept of the mitochondrial Eve is based
on the same type of analysis.
Single-origin hypothesis
In paleoanthropology, the single-origin hypothesis
(or Out-of-Africa model) is one of two
competing accounts of the origin of anatomically modern
humans, Homo sapiens sapiens.
Because of the scarcity of fossils and the discovery of
important new finds every few years, researchers disagree
about the details and sometimes even basic elements of human
evolutionary history. While they have revised this history
several times over the last decades, currently, researchers
agree that the first species of the genus Homo,
Homo habilis, evolved in Africa around two million
years ago, and that members of the genus migrated "out of
Africa" somewhat later. The descendants of these ancient
migrants, which probably included Homo erectus,
have become known through fossils uncovered far from Africa,
such as those of "Peking man" and "Java man." The
Neanderthals are also considered the descendants of early
migrants.
According to the single-origin model, however, every
species of the genus Homo but one was driven
extinct: Homo sapiens. This species evolved in
Africa between 100,000 and 200,000 years ago and, in a
second important exodus from Africa, began colonizing the
rest of the world some time afterwards. According to the
single-origin model, these more recent migrants did not
interbreed with the scattered descendants of earlier
exoduses. For this reason, the model is sometimes called the
"replacement scenario." In support of it, advocates have
drawn from both fossil and DNA evidence, in particular from
mitochondrial and Y-chromosome DNA sequences.
The opponents of a single origin argue that interbreeding
indeed occurred, and that the characteristics of modern
humans, including those that have been and still are
perceived by some to distinguish races, reflect genetic
contributions from several lineages that evolved
semi-independently in different parts of the world. This is
the "multiregional model.
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