Genetics: From Genes to Genomes, 5th edition
5th Edition
ISBN: 9780073525310
Author: Leland H. Hartwell, Michael L. Goldberg, Janice A. Fischer, Leroy Hood, Charles F. Aquadro
Publisher: McGraw-Hill Education
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Chapter 14, Problem 24P
Kearns-Sayre syndrome (KSS), Pearson syndrome, and progressive external opthalmoplegia (PEO) are rare diseases in which up to 7.6 kb of the mitochondrial genome is deleted. KSS affects the central nervous system, skeletal muscle, and heart; patients often die in young adulthood. Pearson syndrome is characterized by severe anemia and pancreatic dysfunction. The condition is usually fatal during infancy, but the few survivors often develop the symptoms of KSS. PEO patients have ptosis (drooping eyelids) and weakness in the limbs, but they have normal life spans.
| a. | How can you explain the variation in tissues affected and severity of symptoms in patients with these three conditions, given that they all bear large deletions of mtDNA? (Assume that the size of the deletion does not contribute to |
| b. | What can you conclude from these diseases about the location of the origin of replication for mtDNA? |
| c. | Although these syndromes are due to mtDNA deletions, they are not usually maternally inherited but instead arise as a new mutation in an individual. For example, mothers with PEO usually do not transmit this trait to their offspring. Propose an explanation for this surprising finding. |
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Chapter 14 Solutions
Genetics: From Genes to Genomes, 5th edition
Ch. 14 - Match each numbered item with the most closely...Ch. 14 - Assuming human cells have on average 1000...Ch. 14 - Reverse translation is a term given to the process...Ch. 14 - The human nuclear genome encodes tRNAs with 32...Ch. 14 - The human mitochondrial genome includes no genes...Ch. 14 - Is each of these statements true of chloroplast or...Ch. 14 - Suppose you are characterizing the DNA of a...Ch. 14 - An example of a cloning vector used for biolistic...Ch. 14 - Which of the following characteristics of...Ch. 14 - The Saccharomyces cerevisiae nuclear gene ARG8...
Ch. 14 - The so-called hypervariable regions HV1 and HV2 of...Ch. 14 - Suppose a new mutation arises in a mitochondrial...Ch. 14 - Describe at least two ways in which the...Ch. 14 - Why are severe mitochondrial or chloroplast gene...Ch. 14 - Suppose you are examining a newly found plant...Ch. 14 - A form of male sterility in corn is inherited...Ch. 14 - Plant breeders have long appreciated the...Ch. 14 - Prob. 18PCh. 14 - Prob. 19PCh. 14 - What characteristics in a human pedigree suggest a...Ch. 14 - The first person in the family represented by the...Ch. 14 - In 1988, neurologists in Australia reported the...Ch. 14 - If you were a genetic counselor and had a patient...Ch. 14 - Kearns-Sayre syndrome KSS, Pearson syndrome, and...Ch. 14 - Prob. 25PCh. 14 - Prob. 26P
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