Biology: The Unity and Diversity of Life (MindTap Course List)
15th Edition
ISBN: 9781337670319
Author: STARR
Publisher: Cengage
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Chapter 15, Problem 2DAA
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 platform’s 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 Tabuchi’s 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?
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Mutations in the IL2RG gene cause approximately 30 percent of
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humans. These mutations result in alterations to a protein component
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Insertion in Exon 7, causing frameshift
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Homozygosity for extremely rare mutations in a humangene called SCN9A cause complete insensitivity topain (congenital pain insensitivity or CPA) and a totallack of the sense of smell (anosmia). The SCN9A geneencodes a sodium channel protein required for transmission of electrical signals from particular nerves inthe body to the brain. The failure to feel pain is a dangerous condition as people cannot sense injuries.The SCN9A gene has 26 exons and encodes a1977-amino acid polypeptide. Consanguineous matings in three different families have resulted in individuals with CPA/anosmia. In Family 1, a G-to-Atransition in exon 15 results in a truncated protein that is898 amino acids long; in Family 2, deletion of a singlebase results in a 766-amino acid polypeptide; and inFamily 3, a C-to-G transversion in exon 10 yields a458-amino acid protein.a. Hypothesize as to how each of the three SCN9Amutations affects gene structure: Why are truncatedproteins made in each case? b. How would you…
Mutations in the IL2RG gene cause approximately 30 percent of severe combined immunodeficiency disorder (SCID) cases in humans. These mutations result in alterations to a protein component of cytokine receptors that are essential for proper development of the immune system. The IL2RG gene is composed of eight exons and contains upstream and downstream sequences that are necessary for proper transcription and translation. Below are some of the mutations observed. For each, explain its likely influence on the IL2RG gene product (assume its length to be 375 amino acids). (a) Nonsense mutation in a coding region (b) Insertion in Exon 1, causing frameshift (c) Insertion in Exon 7, causing frameshift (d) Missense mutation (e) Deletion in Exon 2, causing frameshift (f) Deletion in Exon 2, in frame (g) Large deletion covering Exons 2 and 3
Chapter 15 Solutions
Biology: The Unity and Diversity of Life (MindTap Course List)
Ch. 15 - Enhanced Spatial Learning Ability in Mice...Ch. 15 - Enhanced Spatial Learning Ability in Mice...Ch. 15 - Prob. 3DAACh. 15 - Prob. 4DAACh. 15 - _________ cut(s) DNA molecules at specific sites....Ch. 15 - Prob. 2SQCh. 15 - Prob. 3SQCh. 15 - For each species, all ________ in the complete set...Ch. 15 - A set of cells that host various DNA fragments...Ch. 15 - Prob. 6SQ
Ch. 15 - Prob. 7SQCh. 15 - Prob. 8SQCh. 15 - Prob. 9SQCh. 15 - Prob. 10SQCh. 15 - A transgenic organism _______. a. carries a gene...Ch. 15 - True or false? Some transgenic organisms can pass...Ch. 15 - Taq polymerase is used for PCR because it _______....Ch. 15 - _____ can correct a genetic defect in an...Ch. 15 - Match each term with the most suitable...Ch. 15 - Match the method with the appropriate enzyme....Ch. 15 - Prob. 1CTCh. 15 - Restriction enzymes in bacterial cytoplasm cut...Ch. 15 - The results of a paternity test using short tandem...
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- Enhanced Spatial Learning in Mice With an Autism Mutation Autism is a neurobiological disorder with symptoms that include impaired social interactions and stereotyped patterns of behavior. Around 10 percent of autistic people have an extraordinary skill or talent such as greatly enhanced memory. Mutations in neuroligin 3, an adhesion protein that connects brain cells to one another, have been associated with autism. One mutation changes amino acid 451 from arginine to cysteine. In 2007, Katsuhiko Tabuchi and his colleagues genetically modified mice to carry the same arginine-to-cysteine substitution in their neuroligin 3. Mice with the mutation had impaired social behavior. To test spatial learning ability, the mice were placed in a water maze: a deep pool of warm water in which a platform is submerged a few millimeters below the surface. The platform is not visible to swimming mice. Mice do not particularly enjoy swimming, so they locate a hidden platform as fast as they can. When tested again, they can remember its location by checking visual cues around the edge of the pool. How quickly they remember the platforms location is a measure of spatial learning ability (FIGURE 15.18). FIGURE 15.18 spatial learning ability in mica mutation in neuroligin 3 (R451C), compared with unmodified (wild-type) mica. 2. Did the modified or the unmodified mice learn the location of the platform faster in the first test?arrow_forwardMutations within the genes for ARSs, are known to be cause certain human maladies, such as the neurodegenerative disorder Charcot-Marie-Tooth (CMT) disease along with other central nervous system dysfunctions, and cancer. Interestingly, not all those who possess mutations within specific ARS genes do not display the disease phenotype. Provide at least one reason why a person might survive. Remember, do not just name a concept. Describe the concept and then explain WHY (on a molecular level) this explanation holds true.arrow_forwardIn humans, sickle-cell anemia and hemophilia represent which type of mutations? Loss of function mutation Gain of function mutation Behavioral Mutation Biochemical mutationarrow_forward
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