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Ch. 9 - Extranuclear Inheritance
Chapter 9, Problem 21

As mentioned in Section 9.3, mtDNA accumulates mutations at a rate approximately ten times faster than nuclear DNA. Thus geneticists can use mtDNA variations as a 'molecular clock' to study genetic variation and the movement of ancestral human populations from Africa to different areas of the world more than 125,000 years ago. Propose an explanation for how an analysis of mtDNA can be used to construct family trees of human evolution.

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span>Step 1: Understand the unique properties of mtDNA. Mitochondrial DNA (mtDNA) is inherited maternally and does not undergo recombination, making it a stable genetic marker for tracing lineage.</span
span>Step 2: Recognize the mutation rate of mtDNA. Since mtDNA mutates at a rate approximately ten times faster than nuclear DNA, it provides a more detailed timeline of genetic changes over generations.</span
span>Step 3: Use mtDNA as a molecular clock. By comparing the number of mutations in mtDNA sequences between individuals or populations, geneticists can estimate the time since two lineages diverged.</span
span>Step 4: Analyze mtDNA variations across populations. By examining mtDNA from different human populations, researchers can trace back the maternal lineage and infer migration patterns and evolutionary relationships.</span
span>Step 5: Construct phylogenetic trees. Using the data from mtDNA analysis, geneticists can build phylogenetic trees that represent the evolutionary relationships and ancestral connections between different human populations.</span

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Mitochondrial DNA (mtDNA)

Mitochondrial DNA is the genetic material found in mitochondria, the energy-producing organelles in cells. Unlike nuclear DNA, mtDNA is inherited maternally and has a higher mutation rate, making it useful for tracing lineage and evolutionary history. Its relatively rapid accumulation of mutations allows researchers to estimate the timing of evolutionary events and the relationships between different populations.
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Molecular Clock

The molecular clock is a technique used in genetics to estimate the time of evolutionary events based on the rate of genetic mutations. By comparing the differences in mtDNA sequences among various populations, scientists can infer how long ago they diverged from a common ancestor. This method provides a timeline for human migration and evolution, helping to construct family trees that illustrate the relationships among different human groups.
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Ancestral Human Populations

Ancestral human populations refer to the early groups of humans from which modern populations descended. Genetic studies of mtDNA can reveal patterns of migration and adaptation as these populations spread from Africa to other parts of the world. By analyzing mtDNA variations, researchers can reconstruct the paths taken by these ancestral groups, providing insights into human evolution and the genetic diversity present in contemporary populations.
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Related Practice
Textbook Question

Mutations in mitochondrial DNA appear to be responsible for a number of neurological disorders, including myoclonic epilepsy and ragged-red fiber disease, Leber's hereditary optic neuropathy, and Kearns-Sayre syndrome. In each case, the disease phenotype is expressed when the ratio of mutant to wild-type mitochondria exceeds a threshold peculiar to each disease, but usually in the 60 to 95 percent range.

Compared with the vast number of mitochondria in an embryo, the number of mitochondria in an ovum is relatively small. Might such an ooplasmic mitochondrial bottleneck present an opportunity for therapy or cure? Explain.

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Textbook Question

Payne, B. A. et al. (2013) present evidence that a low level of heteroplasmic mtDNA exists in all tested healthy individuals.

What genetic conditions within a given mitochondrion are likely to contribute to such a variable pool of mitochondria?

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Textbook Question

Payne, B. A. et al. (2013) present evidence that a low level of heteroplasmic mtDNA exists in all tested healthy individuals.

What are two likely sources of such heteroplasmy?

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Textbook Question

Because offspring inherit the mitochondrial genome only from the mother, evolutionarily the mitochondrial genome in males encounters a dead end. The mitochondrial genome in males has no significant impact on the genetic information of future generations. Scientists have proposed that this can result in an accumulation of mutations that have a negative impact on genetic fitness of males but not females. Experiments with Drosophila support this possibility. What experimental data or evidence would you want to evaluate or consider to determine if an accumulation of mtDNA mutations negatively impacts the fitness of males of any species?

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