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Ch. 21 - Genomic Analysis
Chapter 20, Problem 21

Researchers have compared candidate loci in humans and rats in search of loci in the human genome that are likely to contribute to the constellation of factors leading to hypertension [Stoll, M., et al. (2000). Genome Res. 10:473–482]. Through this research, they identified 26 chromosomal regions that they consider likely to contain hypertension genes. How can comparative genomics aid in the identification of genes responsible for such a complex human disease? The researchers state that comparisons of rat and human candidate loci to those in the mouse may help validate their studies. Why might this be so?

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Understand the concept of comparative genomics, which involves comparing the genomes of different species to identify similarities and differences.
Recognize that by comparing candidate loci in humans and rats, researchers can identify conserved regions that may play a role in hypertension.
Consider that if a particular locus is conserved across multiple species, such as humans, rats, and mice, it is more likely to be functionally important.
Acknowledge that mice are often used as model organisms in genetic studies due to their genetic and physiological similarities to humans.
Realize that validating findings in mice can provide additional evidence that the identified loci are involved in hypertension, as similar genetic mechanisms may be at play across these species.

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Key Concepts

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

Comparative Genomics

Comparative genomics is the field of study that involves comparing the genomic features of different organisms to identify similarities and differences. This approach helps researchers understand evolutionary relationships and functional elements within genomes. By analyzing conserved regions across species, scientists can pinpoint genes that may play critical roles in specific biological processes, such as disease susceptibility.
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Candidate Loci

Candidate loci refer to specific regions of the genome that are hypothesized to contain genes associated with particular traits or diseases. In the context of hypertension, researchers identify these loci based on previous studies or genetic markers linked to the condition. Investigating these regions can provide insights into the genetic basis of complex diseases by revealing potential gene candidates for further functional analysis.
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Gene Validation through Model Organisms

Using model organisms, such as rats and mice, allows researchers to validate findings from human studies by examining gene function and disease mechanisms in a controlled environment. These organisms often share significant genetic similarities with humans, making them valuable for testing hypotheses about gene involvement in diseases. By confirming the role of candidate genes in these models, researchers can strengthen the evidence for their relevance to human health.
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Related Practice
Textbook Question
In Section 21.10 we briefly discussed the Human Proteome Map (HPM). An interactive Web site for the HPM is available at http://www.humanproteomemap.org. Visit this site, and then answer the questions in parts (a) and (b) and complete part (c). How many proteins were identified in this project?
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Textbook Question
In Section 21.10 we briefly discussed the Human Proteome Map (HPM). An interactive Web site for the HPM is available at http://www.humanproteomemap.org. Visit this site, and then answer the questions in parts (a) and (b) and complete part (c). How many fetal tissues were analyzed?
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Textbook Question
In Section 21.10 we briefly discussed the Human Proteome Map (HPM). An interactive Web site for the HPM is available at http://www.humanproteomemap.org. Visit this site, and then answer the questions in parts (a) and (b) and complete part (c). Use the 'Query' tab and select the 'Gene family' dropdown menu to do a search on the distribution of proteins encoded by a pathway of interest to you. Search in fetal tissues, adult tissues, or both.
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Textbook Question
Homology can be defined as the presence of common structures because of shared ancestry. Homology can involve genes, proteins, or anatomical structures. As a result of 'descent with modification,' many homologous structures have adapted different purposes. List three anatomical structures in vertebrates that are homologous but have different functions.
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Textbook Question
Homology can be defined as the presence of common structures because of shared ancestry. Homology can involve genes, proteins, or anatomical structures. As a result of 'descent with modification,' many homologous structures have adapted different purposes. Is it likely that homologous proteins from different species have the same or similar functions? Explain.
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Textbook Question
Homology can be defined as the presence of common structures because of shared ancestry. Homology can involve genes, proteins, or anatomical structures. As a result of 'descent with modification,' many homologous structures have adapted different purposes. Under what circumstances might one expect proteins of similar function to not share homology? Would you expect such proteins to be homologous at the level of DNA sequences?
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