Proyectos ADN Hispanos y Geográficos (The Hispanic and Geographic DNA Projects)
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Mitochondrial DNA - mtDNA

The human mitochondrion contains 5–10 identical, circular molecules of DNA. Each consists of 16,569 base pairs
Mitochondrial DNA (mtDNA) is the
DNA which is located not in the nucleus
of the cell but in the mitochondria.
Mitochondria are parts of the cell that
generate fuel in the form of adenosine
triphosphate (ATP), which drives the
varied machinery of the cell.
Unlike the rest of the cell, the function of
which is defined by
the nuclear DNA, the
mitochondria have their own DNA and
are assumed to
have evolved separately. Mitochondrial DNA consists of 5-10
rings of
DNA and appears to carry 16,569 base pairs
with 37 genes (13 proteins, 22tRNAs and two rRNA) which are concerned
with the production
of proteins involved in respiration.
However they
all need sub-units created
by nuclear DNA in order to work. mtDNA is typically passed on only from the mother during
sexual reproduction, meaning that the mitochondria are clones.
This
means that there is little change in
the mtDNA from generation to generation, unlike nuclear DNA which changes by 50% each generation. Since the mutation rate is easily measured, mtDNA is a powerful tool
for tracking family lineage, and has been used in this role for
tracking many species back thousands of generations.
Origin of mitochondrial DNA
The existence of mitochondrial DNA also
supports the endosymbiotic theory, which
suggests that eukaryotic cells first
appeared when a prokaryotic cell
was absorbed into another cell without being digested. These two cells
then are thought to have entered into a symbiotic relationship, forming
the first organelle. The existence of separate mitochondrial DNA
suggests that, at one point, mitochondria were separate entities from
their current host cells.
Mitochondrial inheritance
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 mtDNA) 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. It has also been
reported that it can
occasionally be inherited from the father, e.g. in bananas. (Schwartz and Vissing, 2002).
The fact that mitochondrial DNA is always (or almost always) maternally inherited enables researchers to trace uterine lineage far back in time. Vil? et al have published studies tracing the matrilineal descent of domestic dogs to 4 individuals [1] .
The concept of the Mitochondrial Eve is
based on the same type of analysis,
attempting to discover the origin of humanity by tracking the lineage back in time.
See also: single origin theory.
References
- Marianne Schwartz and John Vissing, "Paternal Inheritance of Mitochondrial DNA", New England Journal of Medicine, Aug 22, 2002; 347:576-580. [2] (http://www.life.uiuc.edu/csb/213/PDF/mitochondria.pdf)
- "Mitochondria can be inherited from both parents", New Scientistarticle on Schwartz and Vissing's report; [3] (http://www.newscientist.com/news/news.jsp?id=ns99992716)
- Sutovsky, P., et. al. 1999. "Ubiquitin tag for sperm mitochondria."Nature 402(Nov. 25):371-372. Abstract available at [4] (http://dx.doi.org/10.1038/46466) and discussed in [5] (http://www.sciencenews.org/20000101/fob3.asp).
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