Table of contents

1. Introduction to Genetics51m
2. Mendel's Laws of Inheritance3h 37m
3. Extensions to Mendelian Inheritance2h 41m
4. Genetic Mapping and Linkage2h 28m
5. Genetics of Bacteria and Viruses1h 21m
6. Chromosomal Variation1h 48m
7. DNA and Chromosome Structure56m
8. DNA Replication1h 10m
9. Mitosis and Meiosis1h 34m
10. Transcription1h 0m
11. Translation58m
12. Gene Regulation in Prokaryotes1h 19m
13. Gene Regulation in Eukaryotes44m
14. Genetic Control of Development44m
15. Genomes and Genomics1h 50m
16. Transposable Elements47m
17. Mutation, Repair, and Recombination1h 6m
18. Molecular Genetic Tools19m
- Genetic Cloning
  9m
- Methods for Analyzing DNA
  9m
19. Cancer Genetics29m
- Overview of Cancer
  21m
- Cancer Mutations
  7m
20. Quantitative Genetics1h 26m
21. Population Genetics50m
- Hardy Weinberg
  19m
- Allelic Frequency Changes
  31m
22. Evolutionary Genetics29m

17. Mutation, Repair, and Recombination

Types of Mutations

Genetics

17. Mutation, Repair, and Recombination

Types of Mutations

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1:43 minutes

Problem 22a

Textbook Question

Many human genes are known to have homologs in the mouse genome. One approach to investigating human hereditary disease is to produce mutations of the mouse homologs of human genes by methods that can precisely target specific nucleotides for mutation.
Numerous studies of mutations of the mouse homologs of human genes have yielded valuable information about how gene mutations influence the human disease process. In general terms, describe how and why creating mutations of the mouse homologs can give information about human hereditary disease processes.

Verified step by step guidance

Understand the concept of homologous genes: Homologous genes are genes in different species that share a common ancestor and often have similar functions. In this case, human genes and their mouse homologs are being studied because of their evolutionary and functional similarities.

Explain the relevance of mouse models: Mice are commonly used in genetic research because they share a high degree of genetic similarity with humans, are easy to breed, and have a short generation time. Studying mouse homologs allows researchers to investigate genetic functions and disease processes in a controlled environment.

Describe the process of targeted mutation: Scientists use techniques such as CRISPR-Cas9 or homologous recombination to precisely alter specific nucleotides in the mouse genome. This allows them to mimic mutations found in human genes associated with hereditary diseases.

Discuss the insights gained from mouse models: By observing the phenotypic effects of these mutations in mice, researchers can infer how similar mutations might affect human biology. This includes understanding disease mechanisms, identifying affected pathways, and testing potential treatments.

Highlight the importance of ethical considerations: While mouse models provide valuable insights, researchers must ensure ethical treatment of animals and consider alternative methods when possible. This ensures responsible use of animal models in advancing human health research.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Homologous Genes

Homologous genes are genes in different species that share a common ancestry and often retain similar functions. In this context, mouse genes that are homologous to human genes can provide insights into gene function and disease mechanisms. Studying these homologs allows researchers to understand how mutations in human genes may lead to hereditary diseases by observing the effects of similar mutations in mice.

Gene Targeting Techniques

Gene targeting techniques, such as CRISPR-Cas9, enable precise modifications of specific nucleotides within a gene. This allows scientists to create specific mutations in the mouse homologs of human genes, mimicking the genetic alterations associated with human diseases. By analyzing the resulting phenotypic changes in mice, researchers can infer the potential impacts of similar mutations in humans.

Model Organisms in Genetics

Model organisms, like mice, are extensively used in genetic research due to their genetic, biological, and behavioral similarities to humans. They serve as a practical platform for studying the effects of genetic mutations in a controlled environment. Insights gained from these studies can help elucidate the underlying mechanisms of human hereditary diseases, facilitating the development of potential therapies and interventions.

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Related Practice

Textbook Question

The partial amino acid sequence of a wild-type protein is

… Arg-Met-Tyr-Thr-Leu-Cys-Ser …

The same portion of the protein from a mutant has the sequence

… Arg-Met-Leu-Tyr-Ala-Leu-Phe …

Identify the type of mutation.

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Textbook Question

Speculate on how improved living conditions and medical care in the developed nations might affect human mutation rates, both neutral and deleterious.

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Textbook Question

The two DNA and polypeptide sequences shown are for alleles at a hypothetical locus that produce different polypeptides, both five amino acids long. In each case, the lower DNA strand is the template strand:

Based on DNA and polypeptide sequences alone, is there any way to determine which allele is dominant and which is recessive? Why or why not?

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Textbook Question

Many human genes are known to have homologs in the mouse genome. One approach to investigating human hereditary disease is to produce mutations of the mouse homologs of human genes by methods that can precisely target specific nucleotides for mutation.

Despite the homologies that exist between human and mouse genes, some attempts to study human hereditary disease processes by inducing mutations in mouse genes indicate there is little to be learned about human disease in this way. In general terms, describe how and why the study of mouse gene mutations might fail to produce useful information about human disease processes.

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Textbook Question

The human β-globin wild-type allele and a certain mutant allele are identical in sequence except for a single base-pair substitution that changes one nucleotide at the end of intron 2. The wild-type and mutant sequences of the affected portion of pre-mRNA are

This is one example of how DNA sequence change occurring somewhere other than in an exon can produce mutation. List other kinds of DNA sequence changes occurring outside exons that can produce mutation. In each case, characterize the kind of change you would expect to see in mutant mRNA or mutant protein.

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Textbook Question

Speculate about the way in which this base substitution causes mutation of β-globin protein.

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Textbook Question

The fluctuation test performed by Luria and Delbrück is consistent with the random mutation hypothesis. Briefly describe their experiment and identify how the results match the prediction of the random mutation hypothesis. What would have to be different about the experimental results for them to agree with the prediction of the adaptive mutation hypothesis?

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Textbook Question

Mutations in the CFTR gene result in cystic fibrosis in humans, a condition in which abnormal secretions are present in the lungs, pancreas, and sweat glands. The gene was mapped to a 500-kb region on chromosome 7 containing three candidate genes.

How would you prove that your chosen candidate is the CFTR gene?

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