Concept explainers
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.
What purpose do the cells with the gene for green fluorescent protein serve in this experiment?
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Chapter 26 Solutions
Biology: The Unity and Diversity of Life (MindTap Course List)
- 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_forwardVariations in Phenotype Expression A genetic disorder characterized by falling asleep in genetics lectures is known to be 20% penetrant. All 90 students in a genetics class are homozygous for this gene. Theoretically, how many of the 90 students will fall asleep during the next lecture?arrow_forwardOne unexpected result of the sequencing of the human genome was the finding that mutations in a single gene can be responsible for multiple distinct disorders. For example, mutations in the RET gene can cause two different types of multiple endocrine neoplasias, familial medullary thyroid carcinoma, and Hirschsprung disease. How do you think mutations in a single gene can have such diverse effects?arrow_forward
- Xeroderma pigmentosuma. is a genetic disorder that results in uncontrolled cell growth.b. is a genetic disorder in which the NER system is not fully functional.c. is a genetic disorder that results in the loss of pigment in certainpatches of skin.d. results from the lack of DNA polymerase proofreading.e. Both b and d are true of this disorder.arrow_forwardSynpolydactyly is an abnormality characterized by webbing between partially or completely duplicated fingers or toes (Figure 18.15). The same mutations that cause the human phenotype give rise to a similar phenotype in mice. In what family of genes do you think these mutations occur?arrow_forwardThe amino acid sequence of part of a protein has beendetermined:N . . . Gly Ala Pro Arg Lys . . . CA mutation has been induced in the gene encodingthis protein using the mutagen proflavin. The resultingutant protein can be purified and its amino acidsequence determined. The amino acid sequence of themutant protein is exactly the same as the amino acidsequence of the wild-type protein from the N terminus of the protein to the glycine in the preceding sequence. Starting with this glycine, the sequence ofamino acids is changed to the following:N . . . Gly His Gln Gly Lys . . . CUsing the amino acid sequences, one can determinethe sequence of 14 nucleotides from the wild-typegene encoding this protein. What is this sequence?arrow_forward
- ABO blood group system is defined by the presence of agglutinogens (A and B molecules) at the surface of red blood cells. Enzyme A which leas to the production of the molecule A is coded by all ele A, while enzyme B which leads to the production of the molecule B is coded by allele B, and enzyme O which cannot lead to the production of any molecule is coded by allele O. A part of the coding DNA strand for enzyme A: GAC GTG CGC GCC A part of the coding DNA strand for enzyme B: GAG GTG GcC GCC 5. Compare the non-transcribed strand coding for enzyme A to that coding for enzyme B. 6. Identify the type of mutation involved in this case. Justify. 7. Write the amino acid sequence for both enzymes. 8. "Mutations can lead to diseases or to genetic diversity"Justify by refering to parts A and B. Second letter A G UCU UCC UCA UUG Leu ucG UUU T Phe UUC UAU1- Tyr UACJ Ser UAA Stop UGA Stop UGU), UGCJ UUA UAG Stop UGG Trp CAUTHIS CCU CC CCA CCG CUU CÚC CÁCJ Pro CAA CGU] CGC Arg FLeu CGA CGG CỦA Gln…arrow_forwardThe protein known as tyrosinase is needed to make certain types of pigments. Tyrosinase is composed of a single polypeptide with 511amino acids. The molecular mass of this protein is approximately61,300 Da, or 61.3 kDa. People who carry two defective copies ofthe tyrosinase gene have the condition known as albinism. They areunable to make pigment in the skin, eyes, and hair. Western blottingis used to detect proteins that are translated from a particularmRNA. This method is described in Chapter 20 and also in experimentalquestion E4. Skin samples were collected from a pigmentedindividual (lane 1) and from three unrelated albino individuals(lanes 2, 3, and 4) and subjected to a Western blot analysis using anantibody that recognizes tyrosinase.arrow_forwardto only 23 rounds for a woman of age 20. That is a 6.5-fold greater number of cell divisions and proportionately greater opportunity for new point mutations. Yet, on average, 20-year-old men contribute only about twice as many new point mutations to their offspring as do women. How can you explain this discrepancy?arrow_forward
- Adjacent pyrimidine bases in DNA form dimers with high efficiency after exposure to UV light. If these dimers are not repaired, skin cancers can result. Melanin is a natural sunscreen produced by melanocytes, a type of skin cell, when the skin is exposed to sunlight. Individuals who spend long periods developing a tan eventually acquire a thick and highly wrinkled skin. Such individuals are also at high risk for skin cancer. Can you explain, in general terms, why these phenomena are related?arrow_forwardTwo genes associated with breast cancer, BRCA1 and BRCA2, were discovered in 1994 and 1995, respectively, and shortly thereafter, were patented by Myriad Genetics, a company based in Utah. Under the patents, testing for mutations in these genes could only be performed by Myriad, at costs from 300 to 3,000. Myriad also patented the process of analyzing the results of such tests, preventing anyone who obtains the sequence of their BRCA genes by other means (which itself would probably be patent infringement) from interpreting the information. The idea that genes can be patented has been a contentious issue from the beginning. Patents are not granted for products of nature, meaning that genes inside the body are not patentable, but biotech companies successfully argued that by removing a gene from the human body, purifying it, and then obtaining its DNA sequence, they created something not found in nature, and which is therefore a patentable invention. The U.S. Patent Office found the argument persuasive, but opponents argue that genes are parts of our bodies and can be identified but not invented. Biotech companies argue that without the protection offered by patents, they would have no incentive for research and development of diagnostic tests. In Europe, patents for BRCA1 and BRCA2 were revoked in 2004 because they did not meet the standards for a patent. After more than a decade of legal disputes, the patents were partially restored in 2008 on a very restricted basis. In the United States, a lawsuit, focused on the patents for the BRCA genes, was filed in May 2009. The suit challenges the basic idea that genes are patentable. In November 2009, the judge ruled that the lawsuit can proceed, and the case is moving forward. In March 2010, a federal court invalidated Myriad Genetics patent on these genes. In August 2011, the U.S. Court of Appeals reversed the lower courts decision and ruled that gene sequences isolated from cells are not a product of nature and are therefore patentable. The case went to the U.S. Supreme Court, which ordered the appeals court to reconsider the case. The Federal Appeals Court did not change its decision, and the case once again, went to the U.S. Supreme Court. A unanimous decision in June 2013 invalidated Myriads patents on the basis that isolating a gene from nature does not make it patentable. This is a landmark decision on gene patenting with widespread ramifications for the biotechnoloogy industry. Will this decision reduce the incentives for companies to invest in new diagnostic tests that would be used by cancer victims or those with serious genetic disorders?arrow_forwardAchondroplasia is an autosomal dominant form of dwarfism caused by a single gene mutation. Calculate the mutation rate of this gene given the following data: 10 achondroplastic births to unaffected parents in 245,000 births.arrow_forward
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