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DNA Mutation Rates
and 
 
Evolution
Sean D. Pitman M.D.
© August, 2005 (Updated)
 
Mitochondrial DNA Mutation Rates
 
Mitochondria are “organelles” within living cells that are responsible for making thecurrency of energy called ATP (Adenosine Triphosphate), which all cells need tofunction. Mitochondria carry their own separate DNA (mtDNA) that is independent of the nuclear DNA of the same cell. Human mtDNA is composed of 37 genes totalingabout 16,000 base pairs. This mtDNA also mutates at a much faster rate than nuclear DNA (nucDNA) does. Human mtDNA has been completely mapped and all the codingregions are known (As well as the proteins or RNA for which they code). Some of the
 
mtDNA
does not code for anything 
 
(thought to make these sections immune from“natural selection pressure”), and are known as the "control regions". One particular region appears to mutate faster than any other region (1.8 times faster), because thevariation among humans is greatest here.
4
When the cell divides, each cell takes someof the mitochondria with it. The mitochondria replicate themselves independently withinthe cell. Beyond this, it has been generally assumed that mitochondria are alwayspassed on from the mother to the offspring without being involved with genetic shufflingand recombining of mtDNA with the mtDNA of the father. Recently, however, this notionhas been challenged. As it turns out, many cases of paternally derived mtDNA havebeen detected in modern families of humans as well as other species. Consider thefindings of an interesting study published by Schwartz and Vissing in the 2002 issue of the
New England Journal of Medicine
:
 
" 
Mammalian mitochondrial DNA (mtDNA) is thought to be strictly
 
maternallyinherited. Sperm mitochondria disappear in early
 
embryogenesis by selectivedestruction, inactivation, or simple
 
dilution by the vast surplus of oocyte mitochondria. . .The underlying mechanism responsible for the elimination of 
 
sperm mtDNA in normalembryos is not well understood. We speculate
 
that the process in some cases may bedefective, allowing sperm
 
mitochondria to survive and giving those with a selectiveadvantage
 
the possibility of prevailing in certain tissues. . . Very small amounts of paternally inherited mtDNA have been detected
 
by the polymerase chain reaction (PCR)in mice after several
 
generations of interspecific backcrosses. Studies of such hybridsand of mouse oocytes microinjected with sperm support the hypothesis
 
that sperm
 
mitochondria are targeted for destruction by nuclear-encoded
 
proteins. We report thecase of a 28-year-old man with
 
mitochondrial myopathy due to a novel 2-bp mtDNAdeletion in
 
the
ND2 
gene (also known as
MTND2 
), which encodes a subunit
 
of theenzyme complex I of the mitochondrial respiratory chain.
 
We determined that themtDNA harboring the mutation was paternal
 
in origin and accounted for 90 percent of the patient's muscle
 
mtDNA.
" 
47
 
So, what does such a finding mean with regard to mtDNA mutation rates andmolecular clocks? Well, consider the following comments by Morris and Lightowlerspublished in a 2000 edition of 
The Lancet 
:
 
Mitochondrial DNA (mtDNA) is generally assumed to be inherited exclusively fromthe mother…. Several recent papers, however, have suggested that elements of mtDNAmay sometimes be inherited from the father. This hypothesis is based on evidence thatmtDNA may undergo recombination. If this does occur, maternal mtDNA in the egg mustcross over with homologous sequences in a different DNA molecule; paternal mtDNAseems the most likely candidate…. If mtDNA can recombine, irrespective of themechanism, there are important implications for mtDNA evolution and for phylogeneticstudies that use mtDNA"
48
 
Before this evidence of paternal inheritance was discovered it was assumed thatmtDNA was strictly the result of maternal inheritance. Based on this assumption, it wasassumed that the mitochondrial offspring would get exact copies of the mitochondria
of 00

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