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Ch. 26 - Population and Evolutionary Genetics
Klug - Concepts of Genetics  12th Edition
Klug12th EditionConcepts of Genetics ISBN: 9780135564776Not the one you use?Change textbook
Chapter 26, 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
Understand that population size affects genetic drift, which is the random fluctuation of allele frequencies in a population independent of natural selection.
Recognize that in small populations, genetic drift has a stronger effect, causing alleles (both deleterious and advantageous) to be lost or fixed by chance more rapidly than in large populations.
Consider that advantageous mutations, although beneficial, can be lost in small populations because the random sampling effect can override the selective advantage.
Similarly, deleterious mutations might also be lost quickly in small populations due to drift, but sometimes they can become fixed if selection is weak and drift is strong.
Conclude that population size influences the survival of mutations because in small populations, random chance (genetic drift) plays a larger role than selection, affecting the fate of both deleterious and advantageous mutations.

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Key Concepts

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

Mutation as a Source of Genetic Variation

Mutations are random changes in the genetic material that create new alleles, providing the raw material for evolution. They can be neutral, deleterious, or advantageous, and occur independently of an organism’s fitness. Understanding mutation is essential because it introduces genetic diversity upon which natural selection and genetic drift act.
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Genomic Variation

Genetic Drift and Population Size

Genetic drift is the random fluctuation of allele frequencies in a population, which has a stronger effect in small populations. In small populations, chance events can lead to the loss or fixation of alleles regardless of their selective advantage or disadvantage, causing both beneficial and harmful mutations to disappear more easily.
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Genetic Drift

Natural Selection vs. Random Effects in Evolution

Natural selection favors advantageous mutations and removes deleterious ones based on their impact on fitness. However, in small populations, random effects like genetic drift can overpower selection, making survival of mutations less dependent on their selective value and more on chance, explaining why both types of mutations may be lost.
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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.

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 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 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

Shown below are two homologous lengths of the alpha and beta chains of human hemoglobin. Consult a genetic code dictionary, and determine how many amino acid substitutions may have occurred as a result of a single nucleotide substitution. For any that cannot occur as a result of a single change, determine the minimal mutational distance.

Alpha: ala val ala his val asp asp met pro

Beta: gly leu ala his leu asp asn leu lys

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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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