Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 19, Problem 18QP
Summary Introduction
To determine: The founder principle in case of Ashkenazi Jewish Women infected by BRCA1 gene.
Introduction: The concept of founder effect was initially given by Ernst Mayr in the year 1942. The BRCA1 gene is a gene that is responsible for causing breast cancer in women.
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Neutral regions of a species’ genome that are distant from any selected sites have apairwise diversity (?) of 0.01. Other regions of the genome have reduced genetic variation,and selective sweeps could be responsible for the reduction. Assume that selective sweepshappen at a rate of 10^-10 per bp, and they take 500 generations to reach fixation. Therecombination rate in regions where selective sweeps might occur is 10^-8 per bp. Theeffective population size of the species is 10^5.
A. Find the expected genetic diversity (? per bp) in regions where selective sweepsmight be occurring.B. Find the deleterious mutation rate (per bp) that would be required to produce anequivalent reduction in genetic diversity as a result of background selection (BGS)?Assume the same recombination rate as above.
Recall from our classes on molecular evolution that some proteins evolve more rapidly than others. For example, the oxygen-carrying protein myoglobin evolves more quickly than the D1 protein of photosystem II.
What explains this difference in the rate of protein evolution?
A. Proteins like myoglobin have evolved more recently than proteins like D1 and thus have been forced to evolve more quickly.
B. Changes to the sequence of some proteins can be tolerated as they don’t alter fitness; for other proteins, sequence changes are usually harmful.
C. In constrained proteins like D1, evolution results primarily from nucleotide changes that alter the amino acid sequence of the protein.
D. Protein evolution is dependent upon the rate of gene mutation and some genes have a higher rate of mutation than others.
n class we investigated the reason cystic fibrosis is maintained in the human population in higher frequency than we expected given the deleterious effects of being homozygous at the CFTR gene. We calculated the actual mutation rate of the CFTR gene to be 6.7 x 10-7. The mutation rate expected under mutation-selection balance was 4 x 10-4. What is the most plausible explanation as to why cystic fibrosis is maintained in the human population at a higher frequency than we expect?
a.
Negative selection against the CFTR deleterious alleles is too weak to eliminate the alleles from the human population.
b.
Positive selection for the CFTR deleterious alleles is likely occurring in response to some other selective pressure in the human population, possibly resistance to typhoid fever.
c.
The CFTR gene has an exceedingly low mutation rate causing humans to have no genetic variation at that gene.
d.
The CFTR gene has an exceedingly high mutation rate and that is…
Chapter 19 Solutions
Human Heredity: Principles and Issues (MindTap Course List)
Ch. 19.8 - Why dont genetic markers on the Y chromosome...Ch. 19.8 - Prob. 2GRCh. 19 - If you suspected that heterozygous carriers of a...Ch. 19 - If allele frequencies in the hemoglobin gene are...Ch. 19 - Prob. 1QPCh. 19 - How Can We Measure Allele Frequencies in...Ch. 19 - How Can We Measure Allele Frequencies in...Ch. 19 - Prob. 4QPCh. 19 - Prob. 5QPCh. 19 - How Can We Measure Allele Frequencies in...
Ch. 19 - How Can We Measure Allele Frequencies in...Ch. 19 - How Can We Measure Allele Frequencies in...Ch. 19 - Using the HardyWeinberg Law in Human Genetics...Ch. 19 - Prob. 10QPCh. 19 - Using the HardyWeinberg Law in Human Genetics In a...Ch. 19 - Prob. 12QPCh. 19 - Measuring Genetic Diversity in Human Populations...Ch. 19 - Measuring Genetic Diversity in Human Populations...Ch. 19 - Prob. 15QPCh. 19 - Measuring Genetic Diversity in Human Populations...Ch. 19 - Prob. 17QPCh. 19 - Prob. 18QPCh. 19 - Measuring Genetic Diversity in Human Populations...Ch. 19 - Natural Selection Affects the Frequency of Genetic...Ch. 19 - Prob. 21QPCh. 19 - Prob. 22QPCh. 19 - The Evolutionary History and Spread of Our Species...Ch. 19 - Prob. 24QPCh. 19 - Genomics and Human Evolution The Denisovan genome...
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- Neanderthal Hair Color The MCIR gene regulates pigmentation in humans (Sections 14.1 and 15.l revisited), .so loss-of-function mutations in this gene affect hair and .skin color. A person with two mutated alleles for this gene makes more of the reddish melanin than the brownish melanin, resulting in red hair and pa le skin. DNA extracted from two Neanderthal fossils contains a mutated MC1R allele that has not yet been found in humans, To see how the. Neanderthal mutation affects the function of the MC1R gene, Carles Lalueza-Fox and her team introduced the allele into cultured monkey cells (FIGURE 26.1 6). FIGURE 26.16 MC1R activity in monkey cells transgenic for an unmutated MClR gene, the Neanderthal MC1R allele or the gene for green fluorescent protein (GFP). GFP is- not related to MC1R. 2. What does this imply about the mutations effect on Neanderthal hair color?arrow_forwardNeanderthal Hair Color The MCIR gene regulates pigmentation in humans (Sections 14.1 and 15.l revisited), .so loss-of-function mutations in this gene affect hair and .skin color. A person with two mutated alleles for this gene makes more of the reddish melanin than the brownish melanin, resulting in red hair and pa le skin. DNA extracted from two Neanderthal fossils contains a mutated MC1R allele that has not yet been found in humans, To see how the. Neanderthal mutation affects the function of the MC1R gene, Carles Lalueza-Fox and her team introduced the allele into cultured monkey cells (FIGURE 26.1 6). FIGURE 26.16 MC1R activity in monkey cells transgenic for an unmutated MClR gene, the Neanderthal MC1R allele or the gene for green fluorescent protein (GFP). GFP is- not related to MC1R. What purpose do the cells with the gene for green fluorescent protein serve in this experiment?arrow_forwardMeasuring Genetic Diversity in Human Populations Why is it that mutation, acting alone, has little effect on gene frequency?arrow_forward
- Neanderthal Hair Color The MC1R gene regulates pigmentation in humans (Sections 14.1 and 15.1 revisited), so loss-of-function mutations in this gene affect hair and skin color. A person with two mutated alleles for this gene makes more of the reddish melanin than the brownish melanin, resulting in red hair and pale skin. DNA extracted from two Neanderthal fossils contains a mutated MC1R allele that has not yet been found in humans. To see how the Neanderthal mutation affects the function of the MC1R gene. Carles Lalueza-Fox and her team introduced the allele into cultured monkey cells (FIGURE 26.16). FIGURE 26.16 MC1R activity in monkey cells transgenic for an unmutated MC1R gene, the Neanderthal MC1R allele, or the gene for green fluorescent protein (GFP). GFP is not related to MC1R. 1. How did MCR1 activity in monkey cells with the mutant allele differ from that in cells with the normal allele?arrow_forwardMeasuring Genetic Diversity in Human Populations The theory of natural selection has been summarized popularly as survival of the fittest. Is this an accurate description of natural selection? Why or why not?arrow_forwardPredispositions in populations. Assume that 10% of the members of a population will get a particular disease over the course of their lifetime. Genomic studies reveal that 5% of the population have sequences in their genomes such that their probability of getting the disease over the course of their lifetimes is 50%. What is the average lifetime risk of this disease for the remaining 95% of the population without these sequences?arrow_forward
- The so-called hypervariable regions (HV1 and HV2) of the human mitochondrial genome are sometimes used in forensic analysis. They are two noncoding regions of the mitochondrial genome, each approximately 300 bp, that flank the origin of replication; the function of these DNA sequences is not well understood. However, these two regions of mtDNA show the most variation (SNPs and InDels) among different people. The DNA within HVI and HV2 accumulates mutations at ten times the rate of DNA sequences in the nuclear genome. a. Under what circumstances would human mtDNA be preferable over nuclear DNA for identifying individuals?arrow_forward. SCIENTIFIC INQUIRY The scientists mapping the SNPs inthe human genome noticed that groups of SNPs tended to beinherited together, in blocks known as haplotypes, ranging inlength from 5,000 to 200,000 base pairs. There are as few as fouror five commonly occurring combinations of SNPs per haplotype.Integrating what you’ve learned throughout this chapter and thisunit, propose an explanation for this observationarrow_forwardThe use of nucleotide sequence data to measure genetic variabilityis complicated by the fact that the genes of many eukaryotesare complex in organization and contain 5' and 3' flankingregions as well as introns. Researchers have compared thenucleotide sequence of two cloned alleles of the y-globin gene from asingle individual and found a variation of 1 percent. Those differencesinclude 13 substitutions of one nucleotide for anotherand three short DNA segments that have been inserted in oneallele or deleted in the other. None of the changes takes placein the gene’s exons (coding regions). Why do you think this isso, and should it change our concept of genetic variation?arrow_forward
- A new beneficial mutation arises in a population of bacteria (haploid microbe) with a population size of 100,000. Individuals without the mutation have a 1% reduction in survival relative to individuals with the mutation. How many generations do you expect it take for the allele to reach fixation?arrow_forwardGenetically Modified Foods The creation of transgenic crop plants using recombinant DNA methods involves the transfer of just one gene or a small number of genes to the plants, in contrast to classical breeding methods in which hundreds or even thousands of genes are transferred at once. Explain why this is true. If fewer genes are transferred during the creation of transgenic crops, why are some people afraid that they are dangerous?arrow_forwardThe human genome holds an extraordinary amount of information about human development, medicine, and evolution. In 2000, the human genome was triumphantly released as a reference genome with approximately 8% missing information (gaps). In 2022- exactly 22 years later, technological advances enabled the gaps to be filled. This is a notable scientific milestone, leading to the resolution of critical aspects of human genetic diversity, including evolutionary comparisons to our ancestors. What was the technology used in 2022, and how significant are the gaps that have been resolved?arrow_forward
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Mitochondrial mutations; Author: Useful Genetics;https://www.youtube.com/watch?v=GvgXe-3RJeU;License: CC-BY