Skip to main content
Ch. 21 - Genomic Analysis
Chapter 20, Problem 23

Comparisons between human and chimpanzee genomes indicate that a gene that may function as a wild-type or normal gene in one primate may function as a disease-causing gene in another [The Chimpanzee Sequencing and Analysis Consortium (2005). Nature 437:69–87]. For instance, the PPARG locus (regulator of adipocyte differentiation) is a wild-type allele in chimps but is clearly associated with Type 2 diabetes in humans. What factors might cause this apparent contradiction? Would you consider such apparent contradictions to be rare or common? What impact might such findings have on the use of comparative genomics to identify and design therapies for disease-causing genes in humans?

Verified step by step guidance
1
insert step 1: Understand the concept of gene function and expression. Genes can have different effects depending on the organism's genetic background and environment.
insert step 2: Consider the role of evolutionary divergence. Over time, species diverge, and genes may acquire different functions or regulatory mechanisms.
insert step 3: Analyze the impact of genetic context. The same gene can interact with different sets of genes in different species, leading to varied phenotypic outcomes.
insert step 4: Evaluate the frequency of such contradictions. Consider whether these cases are exceptions or if they occur more commonly across different species.
insert step 5: Discuss the implications for comparative genomics. Consider how these findings might affect the development of therapies, emphasizing the need for careful interpretation of cross-species genetic data.

Verified Solution

Video duration:
1m
This video solution was recommended by our tutors as helpful for the problem above.
Was this helpful?

Key Concepts

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

Genetic Variation

Genetic variation refers to the differences in DNA sequences among individuals within a species or between species. These variations can lead to different phenotypes, including susceptibility to diseases. In the context of the question, the PPARG locus illustrates how a gene can have different effects in humans and chimpanzees due to variations in their genomes, highlighting the complexity of gene function across species.
Recommended video:
Guided course
09:32
Genomic Variation

Gene-Environment Interaction

Gene-environment interaction describes how environmental factors can influence the expression of genes and, consequently, the phenotypic outcome. This concept is crucial for understanding why a gene like PPARG may be benign in one species but pathogenic in another, as differences in lifestyle, diet, and other environmental factors can modulate gene function and disease risk.
Recommended video:
Guided course
07:56
Interacting Genes Overview

Comparative Genomics

Comparative genomics is the field of study that compares the genomic features of different organisms to understand evolutionary relationships and functional biology. This approach can reveal insights into disease mechanisms by identifying conserved and divergent genes across species. However, the findings, such as the contrasting roles of the PPARG locus, underscore the need for caution when extrapolating results from one species to another in therapeutic contexts.
Recommended video:
Guided course
02:52
Genomics Overview
Related Practice
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.
312
views
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?
232
views
Textbook Question

Yeager, M., et al. [(2007) Nature Genetics 39:645–649] and Sladek, R., et al. [(2007) Nature 445:881–885] have used single-nucleotide polymorphisms (SNPs) in genome-wide association studies (GWAS) to identify novel risk loci for prostate cancer and Type 2 diabetes, respectively. Each study suggests that disease-risk genes can be identified that significantly contribute to the disease state. Given your understanding of such complex diseases, what would you determine as reasonable factors to consider when interpreting the results of GWAS?

246
views
Textbook Question

Dominguez et al. (2004) suggest that by studying genes that determine growth and tissue specification in the eye of Drosophila, much can be learned about human eye development.

What evidence suggests that genetic eye determinants in Drosophila are also found in humans? Include a discussion of orthologous genes in your answer.

231
views
Textbook Question

Dominguez et al. (2004) suggest that by studying genes that determine growth and tissue specification in the eye of Drosophila, much can be learned about human eye development.

What evidence indicates that the eyeless gene is part of a developmental network?

220
views
Textbook Question
Genomic sequencing has opened the door to numerous studies that help us understand the evolutionary forces shaping the genetic makeup of organisms. Using databases containing the sequences of 25 genomes, scientists examined the relationship between GC content and global amino acid composition [Kreil, D. P., and Ouzounis, C. A. (2001) Nucl. Acids Res. 29:1608–1615]. They found that it is possible to identify thermophilic species on the basis of their amino acid composition alone, which suggests that evolution in a hot environment selects for a certain whole organism amino acid composition. In what way might evolution in extreme environments influence genome and amino acid composition? How might evolution in extreme environments influence the interpretation of genome sequence data?
265
views