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Ch. 18 - Genomics, Bioinformatics, and Proteomics
Klug - Essentials of Genetics 10th Edition
Klug10th EditionEssentials of GeneticsISBN: 9780135588789Not the one you use?Change textbook
Chapter 18, Problem 11

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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1
Understand that this problem requires you to use the PANTHER database to find current functional classifications of human genes, specifically the percentages of genes encoding transcription factors, cytoskeletal proteins, and transmembrane receptor regulatory/adaptor proteins.
Navigate to the PANTHER database website at http:\/\/www.pantherdb.org\/data\/. This is the starting point to access the functional classification data.
On the left side of the screen, locate the 'Quick links' section. This area contains shortcuts to various data views.
Click on the 'Whole genome function views' link within the 'Quick links'. This will display a pie chart representing the distribution of functional classes for human genes.
Hover your mouse over the different sections of the pie chart to reveal the percentage values for transcription factors, cytoskeletal proteins, and transmembrane receptor regulatory/adaptor proteins. Record these percentages as your answers.

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Key Concepts

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

Human Genome Project (HGP) and Gene Function Annotation

The Human Genome Project mapped the entire human DNA sequence, identifying all genes. However, many genes initially had unknown functions, requiring further research and databases to assign roles. Functional annotation links genes to biological roles, helping understand gene products and their impact on health and disease.
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Gene Functional Classification and Protein Categories

Genes are classified based on the proteins they encode, such as transcription factors, cytoskeletal proteins, and transmembrane receptor regulators. Each category reflects a specific cellular role: transcription factors regulate gene expression, cytoskeletal proteins maintain cell structure, and transmembrane proteins mediate signaling and transport.
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Bioinformatics Databases and Tools (PANTHER Database)

Bioinformatics databases like PANTHER provide curated, up-to-date functional classifications of genes across species. They offer tools such as pie charts to visualize gene function distributions, enabling researchers to explore gene roles and proportions in the genome efficiently.
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Related Practice
Textbook Question

BLAST searches and related applications are essential for analyzing gene and protein sequences. Define BLAST, describe basic features of this bioinformatics tool, and give an example of information provided by a BLAST search.

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Textbook Question

Describe three major goals of the Human Genome Project.

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Textbook Question

Describe the human genome in terms of genome size, the percentage of the genome that codes for proteins, how much is composed of repetitive sequences, and how many genes it contains. Describe two other features of the human genome.

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Textbook Question

The Human Genome Project has demonstrated that in humans of all races and nationalities approximately 99.9 percent of the genome sequence is the same, yet different individuals can be identified by DNA fingerprinting techniques. What is one primary variation in the human genome that can be used to distinguish different individuals? Briefly explain your answer.

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Textbook Question

Through the Human Genome Project (HGP), a relatively accurate human genome sequence was published from combined samples from multiple individuals. It serves as a reference for a haploid genome. How do results from personal genome projects (PGP) differ from those of the HGP?

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Textbook Question

Explain differences between whole-genome sequencing (WGS) and whole-exome sequencing (WES), and describe advantages and disadvantages of each approach for identifying disease-causing mutations in a genome. Which approach was used for the Human Genome Project?

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