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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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.
Mutations 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.
THE MOLECULAR GENETICS OF CYSTIC FIBROSIS and of
The following is the base sequence of DNA that codes for amino acids
506-510 of the protein that regulates the chlorine channels in the cell
membrane. This protein contains a total of 1476 amino acids so this is a
small part of the entire gene.
DNA Template Strand: 3'TAGTAGAAACCACAA5'
1. What is the minimum number of DNA nucleotides in this whole
gene?
2. What is the sequence of bases on the strand of DNA that is
complementary to the template strand?
3. What mRNA will be formed from the template strand of DNA?
4. What amino acids will this mRNA code for?
5. If the 6th, 7th and 8th bases in the template strand of the DNA are
removed, rewrite the new template strand below.
6. When the template strand of the DNA is changed, this is referred to
as a mutation. What kind of mutation is this?
65
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_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_forwardSickle-cell hemoglobin differs from regular hemoglobin in just one amino acid. Normal hemoglobin is created from the codon GAA, which codes for glutamic acid while sickle-cell hemoglobin has the codon GUA, which codes for valine. This is an example of what type of mutation? * O Insertion O Silent mutation O Deletion O Substitution mutationarrow_forward
- Two missense mutations in the gene that encodes an enzyme called superoxide dismutase cause a form of amyotrophic lateral sclerosis (ALS, or Lou Gehrig disease). This disease causes loss of neurological function over a 5-year period. One mutation alters the amino acid asparagine (Asn) to lysine (Lys). The other changes an isoleucine (Ile) to a threonine (Thr). List the codons involved and describe how single-base mutations can alter the specified amino acids.arrow_forwardG-LO37 Identify the consequences of mutations in different regions of a gene. The image below represents two strands of DNA: the top one corresponds to a healthy individual, and the bottom one of a sibling potentially affected with a disease due to genetic mutations Mutation 1 A + с AUA ACA AUG Met ACG GUU GUC GUA GUG Val GCU GCC GCA GCG It will result in mRNA produced Mutation 2 It will result in no mRNA produced 500 AGG The protein produced will be normal 500 + GGG Ala The Select all that applies about Mutation 1 (position -6): AAGLys AGA Arg GGU GGC GGA GGG GAC Asp GAA Glu GAGJ Gly The protein produced will have a different amino acid 1235 ATT 1235 TTT 070 2070 ALL The mutation occurs in the promoter region, and this means that the mRNA cannot be produced 1535 The mRNA and protein will both be normal because the mutation occurs outside of the consensus region of the promoter G 1535 с Affectedarrow_forwardNeomorphic Mutations lead to Elimination of normal gene function Increases normal function Expression of a gene at incorrect physiological condition Reduction in normal functionarrow_forward
- Which of the following has been directly associated with deficiencies in several genes, especially SNRNP? Leber's hereditary optic neuropathy Myotonic dystrophy Angelman syndrome Prader-Willi syndrome Fragile X syndromearrow_forwardWilms tumor 1, or nephroblastoma, is caused by mutations in the WT1 gene, which encodes a transcription factor. You have identified a novel variant in WT1: Arg422Pro. You have control cells and cells that have been engineered to carry the homozygous WT1 p.Arg422Pro mutation. You want to assess effects of this mutation on a variety of endpoints. For each endpoint listed below, choose the one technique is best suited to answer the question. Choose from: array CGH, qRT-PCR, qPCR, RNA-seq, FISH, in situ hybridization, western blot, immunostaining, WT1 ChIP-seq, WT1 ChIP-PCR, ATAC-seq, 3C Endpoint Technique? WT1 protein amount (quantitative) Western blot WT1 protein binding to all enhancers, genome-wide Chip-seq WT1 mRNA amount (quantitative) WT1 protein subcellular localization Quantitative assessment of all mRNAs in these cells (genome-wide) RNAseq Chromatin interactions between a specific WT1 chromatin binding site (identified above)…arrow_forwardMatch the relationships to the corresponding concepts. Expanding nucleotide repeat..... Somatic mutation Base substitution Transition Missence mutation Nuetral mutation Mutation Germline mutation Transversion Silent mutation Indels Frameshift mutation Nonsense mutation Inherited change in DNA sequence Loss of function mutation Gain of function mutation Insertions Deletions Reading frame Answer Bank involving the number of repeat sequences often lead to if removes function alteration of single nucleotides are often alter the alters sense codon to stop codon substitution of unlike base alters the amino acid in protein insertions and deletions of sequences are based on type of tissue, can be does not alter function substitution of like base defined as does not alter amino acid in protein if gains functionarrow_forward
- 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_forwardThe prospect of using gene therapy to alleviate genetic conditions is still a vision of the future. Gene therapy for adenosine deaminase deficiency has proved to be quite promising, but many obstacles remain to be overcome. Currently, the correction of human genetic defects is done using retroviruses as vectors. For this purpose, viral genes are removed from the retroviral genome, creating a vector capable of transferring human structural genes into sites on human chromosomes within target-tissue cells. Do you see any potential problems with inserting pieces of a retroviral genome into humans? If so, are there ways to combat or prevent these problems?arrow_forwardTwo 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.arrow_forward
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