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

15. Genomes and Genomics

Sequencing the Genome

Genetics

15. Genomes and Genomics

Sequencing the Genome

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1:54 minutes

Problem 33

Textbook Question

Describe how enhancer screens can be used to uncover genetic redundancy.

Verified step by step guidance

Understand the concept of genetic redundancy: Genetic redundancy occurs when multiple genes perform similar or overlapping functions, so the loss of one gene does not result in a significant phenotype due to compensation by other genes.

Learn about enhancer screens: Enhancer screens are genetic experiments designed to identify mutations that exacerbate or enhance a phenotype caused by a primary mutation. These screens help uncover interactions between genes and pathways.

Design the enhancer screen: Start with an organism or cell line that has a mild phenotype due to a mutation in a gene of interest. Introduce random mutations across the genome using mutagenic agents (e.g., chemicals or radiation). Look for individuals where the phenotype becomes more severe, indicating potential genetic interactions.

Analyze the results: Identify the secondary mutations that enhance the phenotype. These mutations may reveal genes that are functionally redundant with the gene of interest, as their disruption exacerbates the phenotype.

Validate genetic redundancy: Perform further experiments, such as double mutant analysis, to confirm that the identified genes are redundant. For example, create organisms with mutations in both the primary gene and the enhancer gene to observe if the phenotype is more severe than either mutation alone.

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Key Concepts

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

Enhancer Screens

Enhancer screens are experimental techniques used in genetics to identify genes that can compensate for the loss of function of another gene. By introducing mutations or deletions in specific genes and observing the phenotypic outcomes, researchers can determine if other genes can 'enhance' or restore the function, revealing potential genetic interactions and redundancies.

Genetic Redundancy

Genetic redundancy occurs when multiple genes perform similar functions, allowing an organism to maintain normal biological processes even if one gene is mutated or nonfunctional. This phenomenon can complicate genetic analysis, as the effects of a single gene knockout may be masked by the activity of redundant genes, making it challenging to identify essential genetic pathways.

Phenotypic Analysis

Phenotypic analysis involves studying the observable traits or characteristics of an organism resulting from the interaction of its genotype with the environment. In the context of enhancer screens, phenotypic analysis helps researchers assess the impact of genetic modifications, allowing them to identify compensatory mechanisms and elucidate the roles of redundant genes in various biological processes.

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What is a reference genome? How can it be used to survey genetic variation within a species?

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Whole-exome sequencing (WES) is helping physicians diagnose a genetic condition that has defied diagnosis by traditional means. The implication here is that exons in the nuclear genome are sequenced in the hopes that, by comparison with the genomes of nonaffected individuals, a diagnosis might be revealed.

If you were ordering WES for a patient, would you also include an analysis of the patient's mitochondrial genome?

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Textbook Question

What are the strengths and weaknesses of this approach?

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Textbook Question

Recall that when the HGP was completed, more than 40 percent of the genes identified had unknown functions. The PANTHER database provides access to comprehensive and current functional assignments for human genes (and genes from other species).

Go to http://www.pantherdb.org/data/. In the frame on the left side of the screen locate the 'Quick links' and use the 'Whole genome function views' link to a view of a pie chart of current functional classes for human genes. Mouse over the pie chart to answer these questions. What percentage of human genes encode transcription factors? Cytoskeletal proteins? Transmembrane receptor regulatory/adaptor proteins?

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Multiple Choice

Restriction enzymes are proteins responsible for what?

What is the name of a short sequenced DNA fragment?

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