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Chapter 21: Problem 14

Through the Human Genome Project (HGP), a relatively accurate human genome sequence was published in 2003 from combined samples from different individuals. It serves as a reference for a haploid genome. Recently, genomes of a number of individuals have been sequenced under the auspices of the Personal Genome Project (PGP). How do results from the PGP differ from those of the HGP?

Short Answer

Expert verified
Answer: The main differences between the results of PGP and HGP include the aims, methods, and applications of the projects. The aim of HGP was to produce a reference human genome sequence, while PGP focuses on understanding individual genomic variations. Methodologically, HGP used DNA samples from various individuals to establish a composite haploid genome, while PGP sequences the entire genomes of individual participants. In terms of applications, HGP provided a framework for studying human genetics, whereas PGP aims to create a public database of individual genomic data to improve our understanding of the relationship between genetics and human traits, diseases, and health-related phenotypes.

Step by step solution

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1. Understanding HGP and PGP

The Human Genome Project (HGP) was an international research effort aiming to determine the DNA sequence of the entire human genome. It was completed in 2003 and provided a reference for a haploid human genome. On the other hand, the Personal Genome Project (PGP) aims to sequence the genomes of a large number of individuals in order to understand genetic variations among human populations.
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2. Aim of the Projects

The primary goal of HGP was to produce a reference sequence for the human genome, which could later be used for various genetic studies. The PGP, however, focuses on understanding the variations in individual genomes and associating these variations with specific traits, diseases, or conditions.
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3. Methodology

In HGP, the reference genome was assembled using DNA samples from various individuals to establish a composite haploid genome. PGP, in contrast, sequences the entire genomes of individual participants, making it possible to identify genetic variations among different individuals.
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4. Applications

HGP provided a framework for studying human genetics and has been instrumental in the identification of genes associated with various diseases and conditions. PGP, on the other hand, aims to create a public database of individual genomic data, which can be used to improve our understanding of the relationship between genetics and human traits, diseases, and other health-related phenotypes.
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5. Collaborations and Data Sharing

HGP was a collaborative effort among several international research institutions, while PGP is primarily driven by individual participant contributions and aims to create a public, open-access database of individual genomic data. Thus, PGP promotes the sharing of personal genomic data, which has the potential to drive new discoveries in genetics, personalized medicine, and other related fields. In conclusion, both HGP and PGP have made significant contributions to the field of genetics. While HGP laid the foundation by providing a reference human genome, PGP expands our understanding of genetic variations among individuals and promotes the sharing of genomic data for research purposes.

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Most popular questions from this chapter

In this chapter, we focused on the analysis of genomes, transcriptomes, and proteomes and considered important applications and findings from these endeavors. At the same time, we found many opportunities to consider the methods and reasoning by which much of this information was acquired. From the explanations given in the chapter, what answers would you propose to the following fundamental questions: (a) How do we know which contigs are part of the same chromosome? (b) How do we know if a genomic DNA sequence contains a protein-coding gene? (c) What evidence supports the concept that humans share substantial sequence similarities and gene functional similarities with model organisms? (d) How can proteomics identify differences between the number of protein- coding genes predicted for a genome and the number of proteins expressed by a genome? (e) What evidence indicates that gene families result from gene duplication events? (f) How have microarrays demonstrated that, although all cells of an organism have the same genome, some genes are expressed in almost all cells, whereas other genes show celland tissue-specific expression?

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. (a) List three anatomical structures in vertebrates that are homologous but have different functions. (b) Is it likely that homologous proteins from different species have the same or similar functions? Explain. (c) 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?

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 Sequence and Analysis Consortium, Nature, \(437: 69-87,2005\) ). For instance, the \(P P A R G\) locus (regulator of adipocyte differentiation) is associated with type 2 diabetes in humans but functions as a wild-type gene in chimps. 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?

Archaea (formerly known as archaebacteria) is one of the three major divisions of living organisms; the other two are eubacteria and eukaryotes. Nanoarchaeum equitans is in the Archaea domain and has one of the smallest genomes known, about 0.5 Mb. How can an organism complete its life cycle with so little genetic material?

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 (Kreil, D.P. and Ouzounis, C.A., Nucl. Acids Res. 29: \(1608-1615,2001\) ) examined the relationship between GC content and global amino acid composition. 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?
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