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 4DAA
Summary Introduction
To determine: Which mice showed greatest improvement in memory.
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
influence on the IL2RG gene product (assume its length to be
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
Deletion in Exon 2, in frame
(g) Large deletion covering Exons 2 and 3
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 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_forwardEnhanced 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_forward
- In humans, sickle-cell anemia and hemophilia represent which type of mutations? Loss of function mutation Gain of function mutation Behavioral Mutation Biochemical mutationarrow_forwardMutations that eliminate the function of a protein are generally associated with: missense changes in a small number of codons in a gene mutations creating UGA, UAA or UAG sequences in introns base pair changes that occur within the promoter of a gene activating mutations in proto-oncogenes that cause growth mutations in tumor suppressor genes that lead to cancer A scientist is doing a PCR experiment where she is using PCR primers where the 5' ends have a radioactive phosphorus atom (33P) on them. After performing 30 cycles of amplification, where will the radioactivity be found? Assume that the polymerase used has no exonuclease activity. choose one or more1-free nucleotides2-unused primers3-in the PCR products When you send your saliva sample to 23andMe, they: identify the bases at one of over half a million places in your genome break the DNA using special enzymes and measure the sizes on gels…arrow_forwardA gene contains the sequence CGCATACGGTAC that results in the amino acid sequence arg-ile-arg-tyr. A mutation in this gene removes the first G in the strand.What is true of this mutation's effect on the phenotype?1.It will affect the phenotype because although most of the protein will be identical, the first amino acid will be different.2.It will not affect the phenotype because the protein will be identical to the original protein.3.It will affect the phenotype because all the amino acids past this point will be different from the original protein.4.It will not affect the phenotype because only the first amino acid is different from the original protein.arrow_forward
- Suppose that a gene has a mutation that changes one nucleotide. Because of this one nucleotide change, the mRNA produced from this gene has a slightly different sequence compared to the mRNA produced from the unaltered/non-mutated gene. However, the resulting protein produced from both of these gene versions is exactly the same. This type of mutation would be classified as a missense mutation. degenerate mutation. silent mutation. nonsense mutation. frameshift mutation.arrow_forwardC5. A human gene called the β-globin gene encodes a polypeptide that functions as a subunit of the protein known as hemoglobin. Hemoglobin is found within red blood cells; it carries oxygen. In human populations, the β-globin gene can be found as the common allele called the HbA allele, and it can also be found as the HbS allele. Individuals who have two copies of the HbS allele have the disease called sickle cell disease. Are the following descriptions examples of genetics at the molecular, cellular, organism, or population level? A. The HbS allele encodes a polypeptide that functions slightly differently from the polypeptide encoded by the HbA allele. B. If an individual has two copies of the HbS allele, that person’s red blood cells take on a sickle cell shape. C. Individuals who have two copies of the HbA allele do not have sickle cell disease, but they are not resistant to malaria. People who have one HbA allele and one HbS allele do not have sickle…arrow_forwardBRCA1 is mutated in a large percentage of hereditary breast and ovarian cancers. BRCA1 protein serves as a key enzyme in repairing DNA double-strand breaks. More than 800 mutations in the BRCA1 are clinically significant. This collection of mutations include missense mutations, small deletions, and large rearrangements that result in a protein with reduced function or no protein product. BRCA1 functions by interacting with a variety of proteins, such as Rb, Myc, cyclin-dependent kinase (CDK), and Rad50/51. Rb is important for cell cycle arrest; Myc is a transcription factor that activates genes required for cell proliferation; activated CDK promotes cell cycle progression; and Rad50/51 proteins facilitate repair of DNA double-strand breaks. How many of the mutations listed below would lead to excessive cell growth when the cell was either homozygous or heterozygous for the mutation? Increased expression of Myc Constitutively active Rad50/51 A null mutation in Rb Continuous production…arrow_forward
- Use this mRNA coding sequence as your starting point. This sequence begins with a start codon and ends with a stop codon, so it is only looking at the region of DNA that directly encodes a protein sequence. 5’-AUGCACAAAUUAGAGUACCCCCCAGGAAGGUAG-3’ Make the following mutation in this sequence by changing/adding/removing only one nucleotide. Make the mutation easy to see (a different color, circled, something like that) A nonsense mutationarrow_forwardThe following quote is from a TiBS review article (Y. Shiloh,(2006) TiBS vol. 31 No7 Pages 402-410). Please explain what information would have been derived from genetics experiments and what information would have been based on biochemistry experiments. Explain how using both genetic and biochemistry has allowed us to greatly enhance our understanding of this field. ATM belongs to a conserved family of proteins termed the ‘PI3K-like protein kinases’( PIKKs), most of which possess a serine/threonine kinase activity and all of which, as their name indicates, contain a domain with motifs that are typical of the lipid kinase phosphatidylinositol3- kinase(PI3K) [39]. At present, the mammalian members of this family include five protein kinases: ATM, ataxia-telangiectasia- and Rad3-related (ATR), hSMG-1, mTOR (also known as FRAP) and the catalytic subunit of the DNA-dependent protein kinase (DNA-PK). Another member of the PIKK family is TRRAP, a protein component of histone…arrow_forwardABOUT Phenylketonuria Explain Potential technical issues and limitations of PCR technology are mentioned Correct information about tissue that can be used to test for a genetic disease and justification of tissue selection Detailed information about the position (exact base pair number) of the new mutation relative to the sequence of the PAH gene. Numbering is based on the start of transcription of the PAH gene. PLEASE ANSWER ALLLL PLEASEEarrow_forward
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