You have isolated a gene that is important for the production of milk and wish to study its regulation. You examine the genomes of human, mouse, dog, chicken, pufferfish, and yeast and note that all genomes except yeast have an orthologous gene.
What does the existence of orthologous genes in chicken and pufferfish tell you about the function of this gene?
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
- 19. Cancer Genetics29m
- 20. Quantitative Genetics1h 26m
- 21. Population Genetics50m
- 22. Evolutionary Genetics29m
15. Genomes and Genomics
Comparative Genomics
Problem 21
Textbook Question
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?

1
Comparative genomics involves comparing the genomes of different species to identify similarities and differences. Begin by understanding that conserved regions across species often indicate functional importance, as these regions are preserved through evolution.
Identify candidate loci in humans and rats that are associated with hypertension. These loci are chromosomal regions suspected to contain genes contributing to the disease. Comparative genomics can help pinpoint genes within these loci by examining conservation across species.
Consider the role of the mouse genome in this study. Mice are often used as model organisms due to their genetic similarity to humans and their well-annotated genome. Comparing human and rat loci to mouse loci can help validate findings by identifying conserved genes or pathways involved in hypertension.
Understand that conserved genes across humans, rats, and mice are more likely to play a fundamental role in the disease. This is because evolutionary conservation suggests that these genes are critical for biological processes and are less likely to be random or species-specific variations.
Finally, use functional studies in model organisms like mice to test hypotheses about gene function. For example, researchers can manipulate candidate genes in mice to observe their effects on blood pressure, providing experimental evidence to support their role in hypertension.

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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. By focusing on these regions, scientists can streamline their search for genes that contribute to complex diseases, facilitating targeted investigations.
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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. Validation in model organisms can confirm the relevance of candidate loci identified in comparative genomics studies.
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