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Questions and Answers
What is the primary function of DNA microarrays?
What is the primary function of DNA microarrays?
What is the advantage of using DNA microarrays over traditional methods?
What is the advantage of using DNA microarrays over traditional methods?
What is the purpose of the DNA sequences on a microarray?
What is the purpose of the DNA sequences on a microarray?
How are the DNA fragments on a microarray typically prepared?
How are the DNA fragments on a microarray typically prepared?
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What is the purpose of a single slide on a DNA microarray?
What is the purpose of a single slide on a DNA microarray?
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What is the technology used to make DNA microarrays similar to?
What is the technology used to make DNA microarrays similar to?
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What is an application of DNA microarrays?
What is an application of DNA microarrays?
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What is the result of using a DNA microarray as a hybridization tool?
What is the result of using a DNA microarray as a hybridization tool?
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What is the primary goal of functional genomics in a given species?
What is the primary goal of functional genomics in a given species?
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What is the term used to describe the entire collection of proteins that an organism can make?
What is the term used to describe the entire collection of proteins that an organism can make?
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What is the primary focus of epigenomics?
What is the primary focus of epigenomics?
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What is the term used to describe the large-scale study of small molecules within cells, biofluids, tissues or organisms?
What is the term used to describe the large-scale study of small molecules within cells, biofluids, tissues or organisms?
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What is the primary focus of bioinformatics?
What is the primary focus of bioinformatics?
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What is the term used to describe the analysis of the complete set of gene expression?
What is the term used to describe the analysis of the complete set of gene expression?
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What is the term used to describe the sum of constituents within a cell at all levels?
What is the term used to describe the sum of constituents within a cell at all levels?
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What is the primary goal of proteomics?
What is the primary goal of proteomics?
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What is the primary purpose of functional microarrays?
What is the primary purpose of functional microarrays?
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What is the term for the marriage between genetics and biocomputing?
What is the term for the marriage between genetics and biocomputing?
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What are the three basic components of computer analysis of genetic sequences?
What are the three basic components of computer analysis of genetic sequences?
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What is the primary function of a computer program in bioinformatics?
What is the primary function of a computer program in bioinformatics?
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What is the purpose of generating a computer data file?
What is the purpose of generating a computer data file?
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How are genetic sequences typically entered into a computer file?
How are genetic sequences typically entered into a computer file?
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What is one of the ways genetic sequences can be analyzed?
What is one of the ways genetic sequences can be analyzed?
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What is the term for the study of the evolutionary relationship between genetic sequences?
What is the term for the study of the evolutionary relationship between genetic sequences?
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What is the primary goal of gene prediction?
What is the primary goal of gene prediction?
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What strategy do computer programs use to locate genes by searching for specific signals?
What strategy do computer programs use to locate genes by searching for specific signals?
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What is the primary difference between search by signal and search by content strategies?
What is the primary difference between search by signal and search by content strategies?
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What is an open reading frame (ORF)?
What is an open reading frame (ORF)?
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Why are there six possible reading frames in a newly discovered sequence?
Why are there six possible reading frames in a newly discovered sequence?
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What is the significance of homologous genes?
What is the significance of homologous genes?
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What is the purpose of translating a genomic DNA sequence in all three reading frames?
What is the purpose of translating a genomic DNA sequence in all three reading frames?
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Why are long ORFs contained within chromosomal gene sequences in prokaryotes?
Why are long ORFs contained within chromosomal gene sequences in prokaryotes?
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What is the primary goal of using a tool like BLAST?
What is the primary goal of using a tool like BLAST?
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What does a small E-value in BLAST indicate?
What does a small E-value in BLAST indicate?
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Why is homology among protein sequences easier to identify than is DNA sequence homology?
Why is homology among protein sequences easier to identify than is DNA sequence homology?
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What is the purpose of the E-value in BLAST?
What is the purpose of the E-value in BLAST?
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What is the result of using a query sequence in BLAST?
What is the result of using a query sequence in BLAST?
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Why are the results of a BLAST search typically sorted by E-value?
Why are the results of a BLAST search typically sorted by E-value?
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What is the advantage of using BLAST over other sequence comparison methods?
What is the advantage of using BLAST over other sequence comparison methods?
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What is the primary input for a BLAST search?
What is the primary input for a BLAST search?
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What is the purpose of multiple sequence alignment?
What is the purpose of multiple sequence alignment?
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What is the characteristic of conserved sites in homologs?
What is the characteristic of conserved sites in homologs?
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How many paralogs of the globin gene family are functionally expressed in humans?
How many paralogs of the globin gene family are functionally expressed in humans?
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What is the composition of hemoglobin protein?
What is the composition of hemoglobin protein?
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During what stage of development are the ζ and ε genes expressed?
During what stage of development are the ζ and ε genes expressed?
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What can be inferred from the high degree of sequence similarity between species?
What can be inferred from the high degree of sequence similarity between species?
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Who originally proposed the multiple sequence alignment approach?
Who originally proposed the multiple sequence alignment approach?
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What is the result of comparing the sequences of the hemoglobin chains?
What is the result of comparing the sequences of the hemoglobin chains?
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What is the category of the β gene in the globin gene family?
What is the category of the β gene in the globin gene family?
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What is the purpose of multiple sequence alignment in the globin gene family?
What is the purpose of multiple sequence alignment in the globin gene family?
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Study Notes
Omics
- In biology, the word "omics" refers to the sum of constituents within a cell at all levels.
- There are several types of omics, including:
- Epigenomics: deals with chemicals that can tell the genome what to do
- Proteomics: studies the entire collection of proteins that an organism can make
- Bioinformatics: analyzes biological information using a mathematical/computational approach
- Transcriptomics: analyzes the complete set of gene expression
- Metabolomics: is the large-scale study of small molecules, commonly known as metabolites, within cells, biofluids, tissues, or organisms
Functional Genomics
- The goal of functional genomics is to elucidate the roles of genetic sequences in a given species.
- It aims to understand gene function and the interplay among many different genes.
- Recent genome-sequencing projects have enabled the study of gene function at a more complex level.
- We can now examine groups of many genes simultaneously.
DNA Microarrays
- DNA microarrays (also called gene chips) are a technology that makes it possible to monitor thousands of genes simultaneously.
- A DNA microarray is a small silica, glass, or plastic slide that is dotted with many sequences of DNA.
- Each of these sequences corresponds to a known gene.
- The DNA fragments on a microarray can be either amplified by PCR and then spotted onto the microarray or synthesized directly on the microarray itself.
- A single slide contains tens of thousands of different spots in an area the size of a postage stamp.
- The technology for making DNA microarrays is quite amazing, involving spotting technologies that are quite similar to the way that an inkjet printer works.
Applications of DNA Microarrays
- DNA microarrays can be used to:
- Compare microarray data using cDNAs derived from RNA of different cell types to identify genes that are expressed in a cell-specific manner.
- Identify genes that are expressed in a cell-specific manner.
- Probe the function of proteins.
Bioinformatics
- The computer has become an important tool in genetic studies.
- The marriage between genetics and biocomputing has yielded an important branch of science: bioinformatics.
- Computer analysis of genetic sequences usually relies on three basic components: a computer, a computer program, and some type of data.
- A computer program is a defined series of operations that can analyze data in a desired way.
- A first step in the computer analysis of genetic data is the generation of a computer data file.
- The genetic sequence can be analyzed in many ways, including:
- Does a sequence contain a gene?
- Where are functional sequences, such as promoters and splice sites?
- Does a sequence encode a polypeptide?
- Is a sequence homologous to other sequences?
- What is the evolutionary relationship between two or more genetic sequences?
Approaches to Identify Genes
- Gene prediction refers to the process of identifying regions of genomic DNA that encode genes.
- Computer programs can employ different strategies to locate genes, including:
- Search by signal: looking for an organization of known sequence elements that are normally found within a gene.
- Search by content: looking for sequences that differ significantly from a random distribution due to codon bias within protein-encoding genes.
Open Reading Frames
- Another way to locate coding regions within a DNA sequence is to examine reading frames.
- In a DNA sequence, the reading of codons could begin with the first, second, or third nucleotide.
- These are called reading frame 1, 2, and 3, respectively.
- An open reading frame (ORF) is a nucleotide sequence that does not contain any stop codons.
- In prokaryotes, long ORFs are contained within the chromosomal gene sequences.
- In eukaryotes, however, the chromosomal coding sequences may be interrupted by introns.
Homologous Genes
- When comparing genetic sequences, researchers sometimes find two or more similar sequences.
- Homology between genetic sequences can be identified by computer programs and databases.
- A strong correlation is typically found between homology and function.
- Homologous genes are derived from the same ancestral gene.
BLAST
- BLAST (Basic Local Alignment Search Tool) is a program that starts with a genetic sequence and then locates homologous sequences in a large database.
- Homology among protein sequences is easier to identify than is DNA sequence homology.
- The relationship between the query sequence and each matching sequence is given an E-value (Expect value).
- The E-value represents the number of times that the match or a better one would be expected to occur purely by random chance in the entire database.
Proteomics
- Proteomics is the study of the functional roles of proteins in a species.
- The entire collection of proteins in a species is known as the proteome.
- Genomic data can provide insights into the proteome, but may not accurately measure protein abundance.
The Proteome is Larger than the Genome
- The proteome is larger than the genome due to cellular processes such as:
- Alternative splicing
- RNA editing
- Post-translational covalent modification
Alterations that Affect the Proteome
- Alternative splicing:
- Occurs in eukaryotes
- A single pre-mRNA is spliced into multiple versions
- Splicing is often cell-specific or related to environmental conditions
- RNA editing:
- Less common than alternative splicing
- Leads to changes in the coding sequence of mRNA after it is made
DNA Microarrays
- A DNA microarray is a technology that allows for the simultaneous monitoring of thousands of genes.
- It consists of a small silica, glass, or plastic slide dotted with many DNA sequences, each corresponding to a known gene.
- The DNA fragments on the microarray can be:
- Amplified by PCR and then spotted onto the microarray
- Synthesized directly on the microarray
- A single slide can contain tens of thousands of different spots, with the relative location of each spot known.
Applications of DNA Microarrays
- Cell-specific gene expression: Comparing microarray data using cDNAs derived from RNA of different cell types can identify genes that are expressed in a cell-specific manner.
- Functional microarrays: Consist of many different cellular proteins, used to probe the function of proteins.
Bioinformatics
- The computer has become an important tool in genetic studies, combining genetics and biocomputing to form the field of bioinformatics.
- Computer analysis of genetic sequences relies on three basic components:
- A computer
- A computer program
- Some type of data
Sequence Files and Computer Programs
- A computer program is a defined series of operations that can analyze data in a desired way.
- A computer data file is a collection of information in a form suitable for storage and manipulation by a computer.
- Entering data into a computer file can be done manually or by instruments that read data directly from a sequencing ladder.
Analyzing Genetic Sequences
- Computer analysis of genetic sequences can answer questions such as:
- Does a sequence contain a gene?
- Where are functional sequences, such as promoters and splice sites?
- Does a sequence encode a polypeptide?
- Is a sequence homologous to other sequences?
- What is the evolutionary relationship between two or more genetic sequences?
Homologous Genes
- Homologous genes are genes that have evolved from a common ancestral gene.
- Orthologs: Homologous genes found in different species.
- Paralogs: Homologous genes found in a single organism.
- A gene family consists of two or more copies of homologous genes within the genome of a single organism.
Computer Databases
- Computer databases store large amounts of genetic information generated by researchers.
- Databases contain annotations, including the genetic sequence and a concise description of it, as well as other features of significance.
- Examples of major computer databases include GenBank, EMBL, and DDBJ.
Multiple Sequence Alignment
- This approach compares homologous genes to identify conserved sites and understand their structure and function.
- It was originally proposed by Saul Needleman and Christian Wunsch in 1970.
- The globin gene family in humans is an example of multiple sequence alignment.
Globin Gene Family
- The globin gene family consists of 9 paralogs that are functionally expressed in humans.
- The 9 paralogs fall into two categories: α-chains and β-chains.
- The composition of hemoglobin changes during development, with different genes expressed during early embryonic development and in the adult.
- Comparing the sequences of the hemoglobin chains can give insight into their structure and function.
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Description
Test your understanding of functional genomics, proteomics, and bioinformatics with this quiz. Covers key concepts from Chapter 23 of Genetics: Analysis & Principles by Robert J. Brooker.