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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

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.

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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

The mtDNA sequence of Neanderthals is more similar to that of modern humans than to that of Denisovans. However, analyses of nuclear DNA clearly indicate that Neandertals and Denisovans share a more recent common ancestor than either of these hominins shares with modern humans. Propose a hypothesis to resolve the discrepancy between the mtDNA and the nuclear genome.

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Textbook Question

If you were to compare your genome sequence with that of your parents, how would it differ? If you were to compare your genome sequence with another student's in the class, how would it differ? What additional difference might you see if your genome was compared with that of a sub-Saharan African, or if you are of sub-Saharan African descent, with that of a non-African?

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Textbook Question

Compare and contrast the terms in each of the following pairs:

Population and gene pool

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Textbook Question

Compare and contrast the terms in each of the following pairs:

Random mating and Inbreeding

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