Which of the following mutations is only found in Haplogroup F? O T16223C O G16230A O T16304C O A16129G O C16311T
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- Enhanced Spatial Learning Ability in Mice Engineered to Carry an Autism Mutation Autism is a neurobiological disorder with symptoms that include impaired social interactions and repetitive, stereotyped patterns of behavior. Around 10 percent of autistic people also have an extraordinary skill or talent such as greatly enhanced memory. Mutations in the gene for neuroligin 3, an adhesion protein that connects brain cells, have been associated with autism. One of these mutations is called R451C because the altered gene encodes a protein with an amino acid substitution: a cysteine (C) instead of an arginine (R) in position 451. In 2007, Katsuhiko Tabuchi and his colleagues introduced the R451C mutation into the neuroligin 3 gene of mice. The researchers discovered that the genetically modified mice had impaired social behavior and superior spatial learning ability. Spatial learning in mice is tested with a water maze, which consists of a small platform submerged a bit below the surface or a pool of water so it is invisible to a swimming mouse. Mice do not particularly enjoy swimming, so they try to locate the hidden platform as quickly as they can. When tested again later, they remember the platforms location by checking visual cues around the edge or the pool. How quickly they remember is a measure of their spatial learning ability. FIGURE 15.14 shows some or Tabuchis result. FIGURE 15.14 Spatial learning ability in mice. Mice with a mutation in neuroligin 3 (R451C) were tested for learning performance: as compared with unmodified (wild-type) mice. Did the modified or the unmodified mice learn the location of the platform faster in the first test?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?Why dont genetic markers on the Y chromosome undergo recombination? Why is this lack of recombination a necessity for these markers to be used in tracing migrations?
- Albinism is caused by an autosomal recessive allele of a single gene. An albino child is born to phenotypically normal parents. However, the paternal grandfather is albino. Exhaustive analysis suggests that neither the mother nor her ancestors carry the allele for albinism. Suggest a mechanism to explain this situation.Familial retinoblastoma, a rare autosomal dominant defect, arose in a large family that had no prior history of the disease. Consider the following pedigree (the darkly colored symbols represent affected individuals): a. Circle the individual(s) in which the mutation most likely occurred. b. Is the person who is the source of the mutation affected by retinoblastoma? Justify your answer. c. Assuming that the mutant allele is fully penetrant, what is the chance that an affected individual will have an affected child?Did the fact that Prince Albert and Queen Victoria were first cousins have anything to do with the fact that she carried the allele for hemophilia? Why or why not?
- Two types of mutations discussed in this chapter are (1) nucleotide changes and (2) unstable genome regions that undergo dynamic changes. Describe each type of mutation.About 4 percent of people of Northern European descent have a cystic fibrosis allele, but only about 1 in 2,500 of these people actually has the disorder. What is the most likely reason for this finding?Should he go ahead and enroll on the chance that he would receive the DNA vaccine and that it would be more effective than chemotherapy? Bruce and his parents moved to a semi-tropical region of the United States when he was about 3 years old. He loved to be outside year-round and swim, surf, snorkel, and play baseball. Bruce was fair-skinned, and in his childhood years, was sunburned quite often. In his teen years, he began using sunscreens, and although he never tanned very much, he did not have the painful sunburns of his younger years. After graduation from the local community college, Bruce wanted an outdoor job and was hired at a dive shop. He took people out to one of the local reefs to snorkel and scuba dive. He didnt give a second thought to sun exposure because he used sunscreen. His employer did not provide health insurance, so Bruce did not go for annual checkups, and tried to stay in good health. In his late 20s, Bruce was injured trying to keep a tourist from getting caught between the dive boat and the dock. He went to an internist, who treated his injury and told Bruce he was going to give him a complete physical exam. During the exam, the internist noticed a discolored patch of skin on Bruces back. She told him that she suspected Bruce had skin cancer and referred him to a dermatologist, who biopsied the patch. At a follow-up visit, Bruce was told that he had melanoma, a deadly form of skin cancer. Further testing revealed that the melanoma had spread to his liver and his lungs. The dermatologist explained that treatment options at this stage are limited. The drugs available for chemotherapy have only temporary effects, and surgery is not effective for melanoma at this stage. The dermatologist recommended that Bruce consider entering a clinical trial that was testing a DNA vaccine for melanoma treatment. These vaccines deliver DNA encoding a gene expressed by the cancer cells to the immune system. This primes the immune system to respond by producing large quantities of antibodies that destroy melanoma cells wherever they occur in the body. A clinical trial using one such DNA vaccine was being conducted at a nearby medical center, and Bruce decided to participate. At the study clinic, Bruce learned that he would be in a Phase Ill trial, comparing the DNA vaccine against the standard treatment, which is chemotherapy, and that he would be randomly assigned to receive either the DNA vaccine or the chemotherapy. He was disappointed to learn this. He thought he would be receiving the DNA vaccine.
- What percentage of the DNA in the genome actually corresponds to genes? How much is actually protein-coding exons? What makes up the rest?Genetically 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?What Art the Features of the Series of -omes? Define the following terms: a. Genome b. Transcriptome c. Proteome d. Metabolome e. Fluxome