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Ch. 26 - Population and Evolutionary Genetics
Chapter 25, Problem 28

The original source of new alleles, upon which selection operates, is mutation, a random event that occurs without regard to selectional value in the organism. Although many model organisms have been used to study mutational events in populations, some investigators have developed abiotic molecular models. Soll et al. (2006. Genetics 175: 267-275) examined one such model to study the relationship between both deleterious and advantageous mutations and population size in a ligase molecule composed of RNA (a ribozyme). Soll found that the smaller the population of molecules, the more likely it was that not only deleterious mutations but also advantageous mutations would disappear. Why would population size influence the survival of both types of mutations (deleterious and advantageous) in populations?

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1
span>Understand the concept of genetic drift: In small populations, random events can have a larger impact on allele frequencies, leading to genetic drift. This means that alleles, whether advantageous or deleterious, can be lost purely by chance.</span
span>Consider the role of selection: In larger populations, natural selection can more effectively increase the frequency of advantageous mutations and decrease the frequency of deleterious ones. However, in smaller populations, the effect of selection is weaker compared to genetic drift.</span
span>Analyze the impact of population size: In small populations, the random loss of alleles due to genetic drift can overshadow the effects of natural selection, leading to the disappearance of both advantageous and deleterious mutations.</span
span>Explore the concept of fixation: In small populations, alleles can become fixed (reach a frequency of 1) or lost (reach a frequency of 0) more quickly due to genetic drift, regardless of their selective advantage or disadvantage.</span
span>Relate to the study by Soll et al.: The study suggests that in small populations of ribozymes, both advantageous and deleterious mutations are more likely to disappear due to the stronger influence of genetic drift compared to selection.</span

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Key Concepts

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

Mutation

Mutation is a change in the DNA sequence of an organism's genome, which can lead to the creation of new alleles. These changes can occur randomly and can be caused by various factors, including environmental influences or errors during DNA replication. Mutations are essential for evolution as they provide the genetic variation upon which natural selection acts.
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Population Size and Genetic Drift

Population size significantly affects genetic drift, a mechanism of evolution that describes how allele frequencies fluctuate due to random sampling effects. In smaller populations, random events can lead to the loss of alleles, including both deleterious and advantageous mutations, more rapidly than in larger populations. This can result in reduced genetic diversity and impact the population's ability to adapt to environmental changes.
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Natural Selection

Natural selection is the process by which certain traits become more or less common in a population based on their impact on survival and reproduction. Advantageous mutations may confer benefits that enhance an organism's fitness, while deleterious mutations can reduce it. The effectiveness of natural selection is influenced by population size, as smaller populations may not effectively retain beneficial mutations due to higher rates of genetic drift.
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Related Practice
Textbook Question

What are the two groups of reproductive isolating mechanisms? Which of these is regarded as more efficient, and why?

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Textbook Question

A form of dwarfism known as Ellis–van Creveld syndrome was first discovered in the late 1930s, when Richard Ellis and Simon van Creveld shared a train compartment on the way to a pediatrics meeting. In the course of conversation, they discovered that they each had a patient with this syndrome. They published a description of the syndrome in 1940. Affected individuals have a short-limbed form of dwarfism and often have defects of the lips and teeth, and polydactyly (extra fingers). The largest pedigree for the condition was reported in an Old Order Amish population in eastern Pennsylvania by Victor McKusick and his colleagues (1964). In that community, about 5 per 1000 births are affected, and in the population of 8000, the observed frequency is 2 per 1000. All affected individuals have unaffected parents, and all affected cases can trace their ancestry to Samuel King and his wife, who arrived in the area in 1774. It is known that neither King nor his wife was affected with the disorder. There are no cases of the disorder in other Amish communities, such as those in Ohio or Indiana.

What is the most likely explanation for the high frequency of the disorder in the Pennsylvania Amish community and its absence in other Amish communities?

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Textbook Question

A form of dwarfism known as Ellis–van Creveld syndrome was first discovered in the late 1930s, when Richard Ellis and Simon van Creveld shared a train compartment on the way to a pediatrics meeting. In the course of conversation, they discovered that they each had a patient with this syndrome. They published a description of the syndrome in 1940. Affected individuals have a short-limbed form of dwarfism and often have defects of the lips and teeth, and polydactyly (extra fingers). The largest pedigree for the condition was reported in an Old Order Amish population in eastern Pennsylvania by Victor McKusick and his colleagues (1964). In that community, about 5 per 1000 births are affected, and in the population of 8000, the observed frequency is 2 per 1000. All affected individuals have unaffected parents, and all affected cases can trace their ancestry to Samuel King and his wife, who arrived in the area in 1774. It is known that neither King nor his wife was affected with the disorder. There are no cases of the disorder in other Amish communities, such as those in Ohio or Indiana.

From the information provided, derive the most likely mode of inheritance of this disorder. Using the Hardy–Weinberg law, calculate the frequency of the mutant allele in the population and the frequency of heterozygotes, assuming Hardy–Weinberg conditions.

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Textbook Question

A number of comparisons of nucleotide sequences among hominids and rodents indicate that inbreeding may have occurred more often in hominid than in rodent ancestry. Bakewell et al. (2007. Proc. Nat. Acad. Sci. [USA] 104: 7489-7494) suggest that an ancient population bottleneck that left approximately 10,000 humans might have caused early humans to have a greater chance of genetic disease. Why would a population bottleneck influence the frequency of genetic disease?

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Textbook Question

Recent reconstructions of evolutionary history are often dependent on assigning divergence in terms of changes in amino acid or nucleotide sequences. For example, a comparison of cytochrome c shows 10 amino acid differences between humans and dogs, 24 differences between humans and moths, and 38 differences between humans and yeast. Such data provide no information as to the absolute times of divergence for humans, dogs, moths, and yeast. How might one calibrate the molecular clock to an absolute time clock? What problems might one encounter in such a calibration?

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