Biology: The Unity and Diversity of Life (MindTap Course List)
15th Edition
ISBN: 9781337408332
Author: Cecie Starr, Ralph Taggart, Christine Evers, Lisa Starr
Publisher: Cengage Learning
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Chapter 15, Problem 3DAA
Summary Introduction
To determine: The mice that learned faster in the second time test.
Concept introduction: Autism is a neurological disorder in which patients have impaired social interactions and repetitive, stereotyped behaviors. The condition appears due to mutation in the gene neuroligin 3, and an adhesion protein that connects the brain cells together. The mutation causes substitution of a cysteine (C) amino acid by arginine (R) in position 451.
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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
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375 amino acids).
Nonsense mutation in a coding region
Insertion in Exon 1, causing frameshift
Insertion in Exon 7, causing frameshift
Missense mutation
Deletion in Exon 2, causing frameshift
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(g) Large deletion covering Exons 2 and 3
Please help with this genetic mutation problem (cellular bio)
Match each example of mutation to the correct effect on function.
Hypomorphic
mutation
Hypermorphic
mutation
Antimorphic
mutation
Neomorphic
A deletion results in the loss of part of a protein and the protein
retains some of its normal activity.
A mutant allele makes a protein with increased cataytic activity.
A mutant form of a transcription factor binds new DNA sequences to
activate different genes.
A mutant from of a receptor protein interferes with the function of
the wild-type receptor through heterodimerization.
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 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?arrow_forwardBloom Syndrome Bloom syndrome is a rare genetic disorder. It is characterized by a short stature and a long narrow face with prominent nose and ears. There is also an increased sensitivity to light. People who have the disorder often develop rashes on their face, forearms, and hands when they have been exposed to the sun. In addition, these people often suffer from chronic obstructive pulmonary disorder (COPD) and have a higher chance of developing cancer. The cause of this genetic disorder is a mutation in the BLM gene located on chromosome 15. The immediate effect of this mutation is that there is a defect in the functioning of the DNA helicase enzyme. The location of this gene on the chromosome is indicated above (yellow arrow). What is the effect of this mutation on DNA replication? What stage of the cell cycle would be most affected?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_forward
- Please help me, this is from practice, double check your answers, previous tutors got it wrongarrow_forwardHomozygosity 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…arrow_forwardAnswer this pleasearrow_forward
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