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12.1 Biotechnology

Biotechnology uses natural biological systems to create products or achieve desired ends.
Genetic engineering allows the modification of genomes of various organisms to improve their characteristics or create biotechnology products.
Decades of research on DNA and RNA function have led to the development of new techniques.
These techniques allow the cloning of genes and direct editing of an organism's genome.
A genetically modified organism (GMO) has had its genome modified using recombinant DNA technology.
A transgenic organism is a type of GMO that has had a gene from another species inserted into its genome.

Recombinant DNA Technology

Recombinant DNA (rDNA) contains genes from two or more different sources.
A vector is needed to make rDNA, which is a piece of DNA that acts as a carrier for the foreign DNA.
One common vector is a plasmid, which is a small accessory ring of DNA found in bacterial cells.
Two enzymes are needed to introduce foreign DNA into plasmid DNA: restriction enzymes and DNA ligase.
Restriction enzymes cleave DNA at specific places, and DNA ligase seals the foreign DNA into an opening in a cut plasmid.
If a plasmid is cut with EcoRI, a piece of foreign DNA can be placed into the gap if that piece ends in bases complementary to those exposed by the restriction enzyme.
Sticky ends are the overhanging bases at the ends of the two DNA molecules that can bind a piece of foreign DNA by complementary base pairing.
DNA ligase seals the foreign piece of DNA into the plasmid.
The rDNA is often given to bacterial cells, which readily take up recombinant plasmids if the cells have been treated to make them more permeable.
As the bacteria replicate the plasmid, the gene is cloned.
Cloned genes have many uses, such as allowing genetically modified bacterial cells to express the cloned gene and retrieve the protein or introducing copies of the cloned gene into another organism to produce a transgenic organism.

Recombinant DNA technology.

DNA Sequencing

DNA sequencing is a procedure used to determine the order of nucleotides in a segment of DNA, often within a specific gene.
DNA sequencing helps researchers identify specific alleles associated with a disease, facilitating the development of medicines or treatments.
DNA sequencing serves as the foundation for the study of forensic biology and contributes to our understanding of our evolutionary history.
In the early 1970s, DNA sequencing was performed manually using dye-terminator substances or radioactive tracer elements attached to each of the four nucleotides during DNA replication, then deciphering the results from a pattern on a gel plate.
Modern-day sequencing involves attaching dyes to the nucleotides and detecting the different dyes via a laser in an automated sequencing machine, which shows the order of nucleotides on a computer screen.
To begin sequencing a segment of DNA, many copies of the segment are made or replicated using a procedure called the polymerase chain reaction.

Polymerase Chain Reaction

PCR can create billions of copies of a segment of DNA in a test tube in a matter of hours.
PCR amplifies a targeted DNA sequence, usually a few hundred bases in length.
PCR requires the use of DNA polymerase and a supply of nucleotides for the new DNA strands.
PCR involves three basic steps: denaturation, annealing, and extension.
The denaturation step at 95°C heats DNA so that it becomes single-stranded.
Annealing step at a temperature usually between 50°C and 60°C, where a nucleotide primer hybridizes (or binds) to each of the single DNA strands.
Extension step at 72°C, where a DNA polymerase adds complementary bases to each of the single DNA strands, creating double-stranded DNA.
These steps occur repeatedly, usually for about 35 to 40 cycles.
PCR is a chain reaction that replicates targeted DNA repeatedly.
The process doubles the amount of DNA with each replication cycle.
PCR was developed in 1985 by Kary Banks Mullis.
The process relies on a temperature-insensitive DNA polymerase extracted from Thermus aquaticus.
The enzyme can withstand high temperatures used to denature double-stranded DNA.
PCR accelerates the production of copies of the selected DNA segment.
DNA amplified by PCR is often analyzed for various purposes.
PCR is commonly used as a forensic method for analyzing DNA found at crime scenes.

The polymerase chain reaction.

DNA Analysis

Analysis of DNA following PCR has improved over the years.
Initially, the entire genome was treated with restriction enzymes.
Gel electrophoresis was used to separate DNA fragments according to their size.
Smaller fragments moved farther through the gel than larger fragments, resulting in a pattern of distinctive bands called a DNA profile or DNA fingerprint.
Short tandem repeat (STR) profiling is now a preferred method.
STRs are short sequences of DNA bases that recur several times.
PCR is used to amplify target sequences of DNA, which are fluorescently labeled.
The PCR products are placed in an automated DNA sequencer.
The fluorescent labels are picked up by a laser, and the length of each DNA fragment is recorded.
Individuals who are homozygotes will have a single fragment, and heterozygotes will have two fragments of different lengths.
DNA fingerprinting has many uses in medicine and forensics.

DNA fingerprinting.

Genome Editing

Genome editing is a new DNA technology that targets specific sequences in DNA for removal or replacement.
CRISPR is the most widely used method for genome editing.
CRISPR was first discovered in prokaryotes as a form of immune defense against viruses.
CRISPR uses an endonuclease enzyme called Cas9 to identify and break specific nucleotide sequences in the DNA.
A guide RNA molecule is used by Cas9 to identify the specific nucleotides to be cut.
The CRISPR system can be used by researchers to target a specific sequence of nucleotides in almost any organism for editing.
CRISPR can be used to inactivate genes and study their role in the cell or insert new nucleotides at specific DNA locations.
Scientists are working on making genome editing more efficient and exploring new applications for it in humans and other organisms.

CRISPR and genome editing.

12.2 Stem Cells and Cloning

The cell cycle and DNA replication ensure every cell receives a copy of all genes.
Every cell has the potential to become a complete organism.
Stem cells retain the ability to form any other type of cell.
Most cells differentiate to become specific types of cells.
Specialization is based on the expression of certain groups of genes at specific times in development.
Reproductive and therapeutic cloning can help understand how specialization influences cell fate.

Reproductive and Therapeutic Cloning

Reproductive cloning aims to create an individual that is identical to the original individual.
The cloning of plants has been successful in modern agriculture.
Cloning of some animals, such as amphibians, has been ongoing since the 1950s.
Cloning of adult mammals was once thought to be impossible due to the difficulty in restarting the nucleus of an adult cell.
In March 1997, Scottish investigators announced the successful cloning of a Dorset sheep named Dolly.
The procedure was different because the donor cells were starved, causing them to stop dividing and enter the G0 stage of the cell cycle, which made the nuclei open to cytoplasmic signals for development.
Cloning of farm animals with desirable genetic traits and rare animals to prevent extinction is now common practice.

Forms of cloning.

No federal funds can be used for human cloning experiments in the US.
Cloning still faces many problems, such as low success rates and concerns about abnormal aging in cloned animals.
Therapeutic cloning aims to produce mature cells for medical treatment, not individual organisms.
Embryonic stem cells are totipotent and can become any type of cell in an organism.
Adult stem cells are multipotent and can only produce certain types of cells.
Scientists are researching ways to control gene expression in adult stem cells to use them in medical treatment instead of embryonic stem cells.

12.3 Biotechnology Products

Bacteria, plants, and animals are genetically engineered to produce biotechnology products today.
A genetically modified organism (GMO) is an organism whose genome has been modified, usually by using recombinant DNA technology.
Organisms that have had a foreign gene inserted into their genome are called transgenic organisms.

Genetically Modified Bacteria

Recombinant DNA technology is used to produce transgenic bacteria.
Transgenic bacteria are grown in bioreactors.
The gene product is collected from the medium.
Biotechnology products include insulin, clotting factor VIII, human growth hormone, tissue plasminogen activator (t-PA), and hepatitis B vaccine.
Transgenic bacteria can be used to promote the health of plants.
Bacteria can be selected for their ability to degrade a particular substance, and this ability can be enhanced by genetic engineering.
Naturally occurring bacteria that eat oil have been genetically modified to do this more efficiently and used in cleaning up beaches after oil spills.
These bacteria are given "suicide" genes, which cause them to self-destruct when the job has been accomplished.

Genetically Modified Plants

Corn, potato, soybean, and cotton plants have been genetically engineered to be resistant to either insect predation or commonly used herbicides.
Some corn and cotton plants are both insect- and herbicide-resistant.
In 2015, 94% of soybeans and 89% of corn planted in the US were genetically engineered.
Herbicide-resistant plants can be used to control weeds, reduce tillage, and minimize soil erosion.
Genetic engineering of plants aims to develop crops with improved qualities, such as reducing food spoilage waste.
Examples of genetically modified crops include Arctic Apples with increased shelf life and Innate Potatoes with reduced bruising.
Soybeans have been developed to produce more oleic acid, which may improve human health.
Leaves can be engineered to lose less water and take in more carbon dioxide, helping crops grow in various climates.
Single-gene modifications allow plants to produce various products, including human hormones, clotting factors, antibodies, and vaccines.

Genetically Modified Animals

Biotechnology techniques have been developed to insert genes into animal eggs.
Animal eggs have taken up the gene for bovine growth hormone (BGH).
The procedure has been used to produce larger fish, cows, pigs, rabbits, and sheep.
Transgenic pigs supply many transplant organs for humans, a process called xenotransplantation.
Animals can be genetically modified to increase their value as food products.
A new form of transgenic salmon contains genes from two other fish species that produce a growth hormone, allowing the salmon to grow quicker.
These salmon are engineered to be triploid females, which makes them sterile.
A transgenic form of the Aedes aegypti mosquito being released in Florida contains a genetic "kill switch" that produces proteins that kill the offspring, thus reducing the size of the population.
Recombinant DNA technology is used to produce transgenic bacteria in bioreactors.
Gene products from the bacteria are collected from the medium.
Biotechnology products produced by transgenic bacteria include insulin, clotting factor VIII, human growth hormone, tissue plasminogen activator (t-PA), and hepatitis B vaccine.
Transgenic bacteria have other uses, such as promoting the health of plants and developing new crops.
Bacteria can be genetically modified to degrade a particular substance, such as oil spills.
Transgenic farm animals are used to produce pharmaceuticals by incorporating genes that code for therapeutic and diagnostic proteins into their DNA.
Proteins appear in the animal's milk, making it possible to produce drugs and vaccines.
Transgenic mice are used in medical research to study human diseases.
Cystic fibrosis allele can be cloned and inserted into mouse embryonic stem cells to develop a mutant mouse with a phenotype similar to that of a human with cystic fibrosis.
OncoMouse carries genes for the development of cancer and is used for cancer research.

12.4 Genomics and Proteomics

In the 20th century, researchers discovered the structure of DNA, DNA replication, and protein synthesis.
In the 21st century, genetics is focusing on genomics, the study of all types of genomes.
Genomes consist of genes and intergenic DNA.
The sequence of all base pairs along the lengths of human chromosomes is now known.
Human DNA contains 3.2 billion base pairs and approximately 23,000 genes.
Many organisms have even larger genomes.
Genes that code for proteins make up only 3-5% of the human genome.
The regions between genes, historically considered "junk" DNA, play an important role in generating small RNA molecules involved in gene regulation.
Intergenic regions also have evolutionary significance and may provide useful hints on the evolution of our species.

Sequencing the bases of the Human Genome

The Human Genome Project was completed in 2003.
The project aimed to determine the sequence of the 3.2 billion base pairs in the human genome.
The project involved both university and private laboratories around the world.
Innovative technologies were developed to sequence segments of DNA.
DNA sequencers were constantly improving over the project's 13-year span.
Modern automated sequencers can analyze and sequence up to 120 million base pairs of DNA in a 24-hour period.

Variations In Base Sequence

Scientists studying the human genome found that many small regions of DNA vary among individuals.
Differences can occur in a single base within a gene or within an intergenic sequence.
Some individuals have additional copies of some genes.
Many of these differences have no ill effects.
Some differences may increase or decrease an individual's susceptibility to disease.

Genome Comparisons

Researchers are comparing the human genome with genomes of other species for clues to our evolutionary origins.
The genomes of all vertebrates are similar.
Genes of chimpanzees and humans are over 90% alike.
The human genome is an 85% match with that of a mouse.
We share a number of genes with much simpler organisms, including bacteria.
Genome comparisons will likely reveal never-previously expected evolutionary relationships between organisms.
Genome comparison studies provide insight into our evolutionary heritage.
Comparing the genome of modern-day humans with those of some of our more recent ancestors, such as the Neandertals and Denisovans, we are developing a better understanding of how our species has evolved over time.
Several studies have compared the genes on chromosome 22 in humans and chimpanzees.
Among the many genes that differed in sequence were several of particular interest: a gene for proper speech development, several for hearing, and several for smell.
The gene necessary for proper speech development is thought to have played an important role in human evolution.
Changes in genes affecting hearing may have facilitated the use of language for communication between people.
Changes in smell genes may have affected dietary changes or sexual selection.
Many of the other genes that were located and studied are known to cause human diseases if abnormal.
Comparing genomes is a way of finding genes associated with human diseases.

Variations in DNA sequence.

Proteomics and Bioinformatics

The human genome has approximately 23,000 genes that are translated into over 200,000 different proteins due to alternative mRNA splicing.
The collection of all proteins produced by an organism's genome is called a proteome.
Proteomics explores the structure and function of cellular proteins and how they interact to contribute to the production of traits.
Proteomics is crucial in the development of new drugs for the treatment of disease because drugs tend to be proteins or small molecules that affect the behavior of proteins.
Computer modeling of the three-dimensional shapes of proteins is an important part of proteomics.
Bioinformatics is the application of computer technologies to the study of the genome and proteome.
Genomics and proteomics produce raw data, and these fields depend on computer analysis to find significant patterns in the data.
Scientists hope to find cause-and-effect relationships between an individual's overall genetic makeup and resulting genetic disorders through bioinformatics.
More than half of the human genome consists of uncharacterized sequences that contain no genes and have no known function.
Bioinformatics might be used to find the function of these regions by correlating any sequence changes with resulting phenotypes or to discover that some sequences are an evolutionary relic that once coded for a protein that we no longer need.

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Biology Genetics

Chapter 12: Biotechnology and Genomics

12.1 Biotechnology

Biotechnology uses natural biological systems to create products or achieve desired ends.
Genetic engineering allows the modification of genomes of various organisms to improve their characteristics or create biotechnology products.
Decades of research on DNA and RNA function have led to the development of new techniques.
These techniques allow the cloning of genes and direct editing of an organism's genome.
A genetically modified organism (GMO) has had its genome modified using recombinant DNA technology.
A transgenic organism is a type of GMO that has had a gene from another species inserted into its genome.

Recombinant DNA Technology

Recombinant DNA (rDNA) contains genes from two or more different sources.
A vector is needed to make rDNA, which is a piece of DNA that acts as a carrier for the foreign DNA.
One common vector is a plasmid, which is a small accessory ring of DNA found in bacterial cells.
Two enzymes are needed to introduce foreign DNA into plasmid DNA: restriction enzymes and DNA ligase.
Restriction enzymes cleave DNA at specific places, and DNA ligase seals the foreign DNA into an opening in a cut plasmid.
If a plasmid is cut with EcoRI, a piece of foreign DNA can be placed into the gap if that piece ends in bases complementary to those exposed by the restriction enzyme.
Sticky ends are the overhanging bases at the ends of the two DNA molecules that can bind a piece of foreign DNA by complementary base pairing.
DNA ligase seals the foreign piece of DNA into the plasmid.
The rDNA is often given to bacterial cells, which readily take up recombinant plasmids if the cells have been treated to make them more permeable.
As the bacteria replicate the plasmid, the gene is cloned.
Cloned genes have many uses, such as allowing genetically modified bacterial cells to express the cloned gene and retrieve the protein or introducing copies of the cloned gene into another organism to produce a transgenic organism.

Recombinant DNA technology.

DNA Sequencing

DNA sequencing is a procedure used to determine the order of nucleotides in a segment of DNA, often within a specific gene.
DNA sequencing helps researchers identify specific alleles associated with a disease, facilitating the development of medicines or treatments.
DNA sequencing serves as the foundation for the study of forensic biology and contributes to our understanding of our evolutionary history.
In the early 1970s, DNA sequencing was performed manually using dye-terminator substances or radioactive tracer elements attached to each of the four nucleotides during DNA replication, then deciphering the results from a pattern on a gel plate.
Modern-day sequencing involves attaching dyes to the nucleotides and detecting the different dyes via a laser in an automated sequencing machine, which shows the order of nucleotides on a computer screen.
To begin sequencing a segment of DNA, many copies of the segment are made or replicated using a procedure called the polymerase chain reaction.

Polymerase Chain Reaction

PCR can create billions of copies of a segment of DNA in a test tube in a matter of hours.
PCR amplifies a targeted DNA sequence, usually a few hundred bases in length.
PCR requires the use of DNA polymerase and a supply of nucleotides for the new DNA strands.
PCR involves three basic steps: denaturation, annealing, and extension.
The denaturation step at 95°C heats DNA so that it becomes single-stranded.
Annealing step at a temperature usually between 50°C and 60°C, where a nucleotide primer hybridizes (or binds) to each of the single DNA strands.
Extension step at 72°C, where a DNA polymerase adds complementary bases to each of the single DNA strands, creating double-stranded DNA.
These steps occur repeatedly, usually for about 35 to 40 cycles.
PCR is a chain reaction that replicates targeted DNA repeatedly.
The process doubles the amount of DNA with each replication cycle.
PCR was developed in 1985 by Kary Banks Mullis.
The process relies on a temperature-insensitive DNA polymerase extracted from Thermus aquaticus.
The enzyme can withstand high temperatures used to denature double-stranded DNA.
PCR accelerates the production of copies of the selected DNA segment.
DNA amplified by PCR is often analyzed for various purposes.
PCR is commonly used as a forensic method for analyzing DNA found at crime scenes.

The polymerase chain reaction.

DNA Analysis

Analysis of DNA following PCR has improved over the years.
Initially, the entire genome was treated with restriction enzymes.
Gel electrophoresis was used to separate DNA fragments according to their size.
Smaller fragments moved farther through the gel than larger fragments, resulting in a pattern of distinctive bands called a DNA profile or DNA fingerprint.
Short tandem repeat (STR) profiling is now a preferred method.
STRs are short sequences of DNA bases that recur several times.
PCR is used to amplify target sequences of DNA, which are fluorescently labeled.
The PCR products are placed in an automated DNA sequencer.
The fluorescent labels are picked up by a laser, and the length of each DNA fragment is recorded.
Individuals who are homozygotes will have a single fragment, and heterozygotes will have two fragments of different lengths.
DNA fingerprinting has many uses in medicine and forensics.

DNA fingerprinting.

Genome Editing

Genome editing is a new DNA technology that targets specific sequences in DNA for removal or replacement.
CRISPR is the most widely used method for genome editing.
CRISPR was first discovered in prokaryotes as a form of immune defense against viruses.
CRISPR uses an endonuclease enzyme called Cas9 to identify and break specific nucleotide sequences in the DNA.
A guide RNA molecule is used by Cas9 to identify the specific nucleotides to be cut.
The CRISPR system can be used by researchers to target a specific sequence of nucleotides in almost any organism for editing.
CRISPR can be used to inactivate genes and study their role in the cell or insert new nucleotides at specific DNA locations.
Scientists are working on making genome editing more efficient and exploring new applications for it in humans and other organisms.

CRISPR and genome editing.

12.2 Stem Cells and Cloning

The cell cycle and DNA replication ensure every cell receives a copy of all genes.
Every cell has the potential to become a complete organism.
Stem cells retain the ability to form any other type of cell.
Most cells differentiate to become specific types of cells.
Specialization is based on the expression of certain groups of genes at specific times in development.
Reproductive and therapeutic cloning can help understand how specialization influences cell fate.

Reproductive and Therapeutic Cloning

Reproductive cloning aims to create an individual that is identical to the original individual.
The cloning of plants has been successful in modern agriculture.
Cloning of some animals, such as amphibians, has been ongoing since the 1950s.
Cloning of adult mammals was once thought to be impossible due to the difficulty in restarting the nucleus of an adult cell.
In March 1997, Scottish investigators announced the successful cloning of a Dorset sheep named Dolly.
The procedure was different because the donor cells were starved, causing them to stop dividing and enter the G0 stage of the cell cycle, which made the nuclei open to cytoplasmic signals for development.
Cloning of farm animals with desirable genetic traits and rare animals to prevent extinction is now common practice.

Forms of cloning.

No federal funds can be used for human cloning experiments in the US.
Cloning still faces many problems, such as low success rates and concerns about abnormal aging in cloned animals.
Therapeutic cloning aims to produce mature cells for medical treatment, not individual organisms.
Embryonic stem cells are totipotent and can become any type of cell in an organism.
Adult stem cells are multipotent and can only produce certain types of cells.
Scientists are researching ways to control gene expression in adult stem cells to use them in medical treatment instead of embryonic stem cells.

12.3 Biotechnology Products

Bacteria, plants, and animals are genetically engineered to produce biotechnology products today.
A genetically modified organism (GMO) is an organism whose genome has been modified, usually by using recombinant DNA technology.
Organisms that have had a foreign gene inserted into their genome are called transgenic organisms.

Genetically Modified Bacteria

Recombinant DNA technology is used to produce transgenic bacteria.
Transgenic bacteria are grown in bioreactors.
The gene product is collected from the medium.
Biotechnology products include insulin, clotting factor VIII, human growth hormone, tissue plasminogen activator (t-PA), and hepatitis B vaccine.
Transgenic bacteria can be used to promote the health of plants.
Bacteria can be selected for their ability to degrade a particular substance, and this ability can be enhanced by genetic engineering.
Naturally occurring bacteria that eat oil have been genetically modified to do this more efficiently and used in cleaning up beaches after oil spills.
These bacteria are given "suicide" genes, which cause them to self-destruct when the job has been accomplished.

Genetically Modified Plants

Corn, potato, soybean, and cotton plants have been genetically engineered to be resistant to either insect predation or commonly used herbicides.
Some corn and cotton plants are both insect- and herbicide-resistant.
In 2015, 94% of soybeans and 89% of corn planted in the US were genetically engineered.
Herbicide-resistant plants can be used to control weeds, reduce tillage, and minimize soil erosion.
Genetic engineering of plants aims to develop crops with improved qualities, such as reducing food spoilage waste.
Examples of genetically modified crops include Arctic Apples with increased shelf life and Innate Potatoes with reduced bruising.
Soybeans have been developed to produce more oleic acid, which may improve human health.
Leaves can be engineered to lose less water and take in more carbon dioxide, helping crops grow in various climates.
Single-gene modifications allow plants to produce various products, including human hormones, clotting factors, antibodies, and vaccines.

Genetically Modified Animals

Biotechnology techniques have been developed to insert genes into animal eggs.
Animal eggs have taken up the gene for bovine growth hormone (BGH).
The procedure has been used to produce larger fish, cows, pigs, rabbits, and sheep.
Transgenic pigs supply many transplant organs for humans, a process called xenotransplantation.
Animals can be genetically modified to increase their value as food products.
A new form of transgenic salmon contains genes from two other fish species that produce a growth hormone, allowing the salmon to grow quicker.
These salmon are engineered to be triploid females, which makes them sterile.
A transgenic form of the Aedes aegypti mosquito being released in Florida contains a genetic "kill switch" that produces proteins that kill the offspring, thus reducing the size of the population.
Recombinant DNA technology is used to produce transgenic bacteria in bioreactors.
Gene products from the bacteria are collected from the medium.
Biotechnology products produced by transgenic bacteria include insulin, clotting factor VIII, human growth hormone, tissue plasminogen activator (t-PA), and hepatitis B vaccine.
Transgenic bacteria have other uses, such as promoting the health of plants and developing new crops.
Bacteria can be genetically modified to degrade a particular substance, such as oil spills.
Transgenic farm animals are used to produce pharmaceuticals by incorporating genes that code for therapeutic and diagnostic proteins into their DNA.
Proteins appear in the animal's milk, making it possible to produce drugs and vaccines.
Transgenic mice are used in medical research to study human diseases.
Cystic fibrosis allele can be cloned and inserted into mouse embryonic stem cells to develop a mutant mouse with a phenotype similar to that of a human with cystic fibrosis.
OncoMouse carries genes for the development of cancer and is used for cancer research.

12.4 Genomics and Proteomics

In the 20th century, researchers discovered the structure of DNA, DNA replication, and protein synthesis.
In the 21st century, genetics is focusing on genomics, the study of all types of genomes.
Genomes consist of genes and intergenic DNA.
The sequence of all base pairs along the lengths of human chromosomes is now known.
Human DNA contains 3.2 billion base pairs and approximately 23,000 genes.
Many organisms have even larger genomes.
Genes that code for proteins make up only 3-5% of the human genome.
The regions between genes, historically considered "junk" DNA, play an important role in generating small RNA molecules involved in gene regulation.
Intergenic regions also have evolutionary significance and may provide useful hints on the evolution of our species.

Sequencing the bases of the Human Genome

The Human Genome Project was completed in 2003.
The project aimed to determine the sequence of the 3.2 billion base pairs in the human genome.
The project involved both university and private laboratories around the world.
Innovative technologies were developed to sequence segments of DNA.
DNA sequencers were constantly improving over the project's 13-year span.
Modern automated sequencers can analyze and sequence up to 120 million base pairs of DNA in a 24-hour period.

Variations In Base Sequence

Scientists studying the human genome found that many small regions of DNA vary among individuals.
Differences can occur in a single base within a gene or within an intergenic sequence.
Some individuals have additional copies of some genes.
Many of these differences have no ill effects.
Some differences may increase or decrease an individual's susceptibility to disease.

Genome Comparisons

Researchers are comparing the human genome with genomes of other species for clues to our evolutionary origins.
The genomes of all vertebrates are similar.
Genes of chimpanzees and humans are over 90% alike.
The human genome is an 85% match with that of a mouse.
We share a number of genes with much simpler organisms, including bacteria.
Genome comparisons will likely reveal never-previously expected evolutionary relationships between organisms.
Genome comparison studies provide insight into our evolutionary heritage.
Comparing the genome of modern-day humans with those of some of our more recent ancestors, such as the Neandertals and Denisovans, we are developing a better understanding of how our species has evolved over time.
Several studies have compared the genes on chromosome 22 in humans and chimpanzees.
Among the many genes that differed in sequence were several of particular interest: a gene for proper speech development, several for hearing, and several for smell.
The gene necessary for proper speech development is thought to have played an important role in human evolution.
Changes in genes affecting hearing may have facilitated the use of language for communication between people.
Changes in smell genes may have affected dietary changes or sexual selection.
Many of the other genes that were located and studied are known to cause human diseases if abnormal.
Comparing genomes is a way of finding genes associated with human diseases.

Variations in DNA sequence.

Proteomics and Bioinformatics

The human genome has approximately 23,000 genes that are translated into over 200,000 different proteins due to alternative mRNA splicing.
The collection of all proteins produced by an organism's genome is called a proteome.
Proteomics explores the structure and function of cellular proteins and how they interact to contribute to the production of traits.
Proteomics is crucial in the development of new drugs for the treatment of disease because drugs tend to be proteins or small molecules that affect the behavior of proteins.
Computer modeling of the three-dimensional shapes of proteins is an important part of proteomics.
Bioinformatics is the application of computer technologies to the study of the genome and proteome.
Genomics and proteomics produce raw data, and these fields depend on computer analysis to find significant patterns in the data.
Scientists hope to find cause-and-effect relationships between an individual's overall genetic makeup and resulting genetic disorders through bioinformatics.
More than half of the human genome consists of uncharacterized sequences that contain no genes and have no known function.
Bioinformatics might be used to find the function of these regions by correlating any sequence changes with resulting phenotypes or to discover that some sequences are an evolutionary relic that once coded for a protein that we no longer need.