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Ch. 20 - Population Genetics and Evolution at the Population, Species, and Molecular Levels
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
Chapter 20, Problem D.12

A 9-bp deletion in the mitochondrial genome between the gene for cytochrome oxidase subunit II and the gene for tRNAᴸʸˢ is a common polymorphism among Polynesians and also in a population of Taiwanese natives. The frequency of the polymorphism varies between populations: The highest frequency is seen in the Maoris of New Zealand (98%), lower levels are seen in eastern Polynesia (80%) and western Polynesia (89%), and the lowest level is seen in the Taiwanese population. What do these frequencies tell us about the settlement of the Pacific by the ancestors of the present-day Polynesians?

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Step 1: Understand the genetic marker involved — a 9-bp deletion in the mitochondrial DNA (mtDNA) located between the cytochrome oxidase subunit II gene and the tRNAᴸʸˢ gene. Since mtDNA is maternally inherited and does not recombine, it is useful for tracing maternal lineage and population history.
Step 2: Note the frequencies of this polymorphism in different populations: very high in Maoris (98%), high in eastern Polynesia (80%) and western Polynesia (89%), and lowest in Taiwanese natives. These frequencies represent how common this genetic variant is in each group.
Step 3: Interpret the gradient of frequencies geographically. Higher frequencies in Maoris and Polynesian populations compared to Taiwanese suggest a founder effect or genetic drift as populations migrated and settled across the Pacific. The decreasing frequency from Polynesia to Taiwan may indicate the direction and sequence of migration events.
Step 4: Use the concept of population genetics and migration to infer that the ancestors of Polynesians likely originated from a population related to Taiwanese natives but experienced genetic changes (like the increase in this deletion frequency) as they moved eastward and settled the Pacific islands.
Step 5: Conclude that the distribution of this polymorphism supports a model of human migration where the Pacific was settled in a stepwise manner, with genetic drift and founder effects shaping the genetic diversity observed today among Polynesian populations.

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Key Concepts

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

Mitochondrial DNA and Maternal Inheritance

Mitochondrial DNA (mtDNA) is inherited exclusively from the mother, making it a powerful tool for tracing maternal lineages and population history. Because mtDNA mutates relatively slowly and does not recombine, specific polymorphisms can indicate shared ancestry and migration patterns among populations.
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Types of Maternal Inheritance

Population Genetics and Polymorphism Frequency

Polymorphism frequency refers to how common a genetic variant is within a population. Differences in frequency across populations can reveal historical relationships, gene flow, and founder effects. High frequency in one group and lower in others suggests a common origin followed by population divergence or migration.
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Genetic Drift

Human Migration and Settlement Patterns in the Pacific

Genetic data, such as mtDNA polymorphisms, help reconstruct the migration routes and settlement history of Pacific peoples. Variations in genetic markers among Polynesian and Taiwanese populations provide evidence for the timing and pathways of ancestral movements across the Pacific islands.
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Related Practice
Textbook Question
Biologists have proposed that the use of antibiotics to treat human infectious disease has played a role in the evolution of widespread antibiotic resistance in several bacterial species, including Staphylococcus aureus and the bacteria causing gonorrhea, tuberculosis, and other infectious diseases. Explain how the evolutionary mechanisms mutation and natural selection may have contributed to the development of antibiotic resistance.
Textbook Question

The figure illustrates the effect of an ethanol-rich and an ethanol-free environment on the frequency of the Drosophila AdhF allele in four populations in a 50-generation laboratory experiment. Population 1 and population 2 were reared for 50 generations in a high-ethanol environment, while control 1 and control 2 populations were reared for 50 generations in a zero-ethanol environment. Describe the effect of each environment on the populations, and state any conclusions you can reach about the role of any of the evolutionary processes in producing these effects.

Textbook Question

In Island Melanesia and Polynesia, most mtDNA haplotypes are of Asian ancestry, whereas Y chromosome haplotypes are predominantly New Guinean. Provide a hypothesis for this sex-biased distribution.

Textbook Question

When the human genome is examined, the chromosomes appear to have undergone only minimal rearrangement in the 100 million years since the last common ancestor of eutherian mammals. However, when individual humans are examined or when the human genome is compared with that of chimpanzees, a large number of small indels and SNPs can be detected. How are these observations reconciled?

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Textbook Question

Look over the 10 diseases approved for genetic health risk assessment listed in Application Chapter B. Select one disease other than the three discussed in Application Chapter B or in this chapter (alpha-1 antitrypsin deficiency, late-onset Alzheimer disease, and celiac disease) or another of the diseases of your choice. Do a brief Internet search to find and download (1) one article for a nonscientific audience identifying the gene or genes whose alleles are associated with occurrence of the disease and (2) one scientific paper that provides data supporting the association of specific alleles of the gene or genes with the disease. Write a short summary combining the information contained in the two papers.

Textbook Question

Two populations of deer, one of them large and living in a mainland forest and the other small and inhabiting a forest on an island, regularly exchange members that migrate across a land bridge that connects the island to the mainland. If you compared the allele frequencies in the two populations, what would you expect to find?

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