Copyright © 2009 Pearson Education, Inc.
PowerPoint Lectures for
Introduction to Biotechnology, Second Edition
William J.Thieman and Michael A.Palladino
Lectures by Lara Dowland
Chapter 2
An Introduction to Genes and
Genomes
Prof. Dr. Ekrem Gürel
Copyright © 2009 Pearson Education, Inc.
Chapter Contents
• 2.1 A Review of Cell Structure
• 2.2 The Molecule of Life
• 2.3 Chromosome Structure, DNA Replication, and
Genomes
• 2.4 RNA and Protein Synthesis
• 2.5 Mutations: Causes and Consequences
Copyright © 2009 Pearson Education, Inc.
2.1 A Review of Cell Structure
• Plasma Membrane – double-layer structure of
lipids and proteins that surrounds the outer surface
of cells
• Cytoplasm – inner contents of a cell between the
nucleus and plasma membrane
• Organelles – structures in the cell that perform
specific functions
Copyright © 2009 Pearson Education, Inc.
• Prokaryotic Cells (include bacteria)
– No nucleus and no organelles
2.1 A Review of Cell Structure
Copyright © 2009 Pearson Education, Inc.
2.1 A Review of Cell Structure
• Eukaryotic cells (plant cells, animal cells)
– Have a nucleus and many organelles
– Organelles
• Nucleus
• Mitochondria
• Endoplasmic reticulum
• Golgi apparatus
Copyright © 2009 Pearson Education, Inc.
2.1 A Review of Cell Structure
Copyright © 2009 Pearson Education, Inc.
2.1 A Review of Cell Structure
• Comparison of Prokaryotic and Eukaryotic Cells
Copyright © 2009 Pearson Education, Inc.
2.2 The Molecule of Life
• Evidence that DNA is the Inherited Genetic Material
– 1869 Friedrich Miescher: “nuclein”
• Could not be broken down by proteases
• Had acidic properties: “nucleic acids”
– 1928 Frederick Griffith
• Two strains of Streptococcus pneumoniae
– Virulent smooth strain (S cells) and harmless rough
strain (R cells)
• Demonstrated transformation – the uptake of DNA by
bacterial cells
Copyright © 2009 Pearson Education, Inc.
2.2 The Molecule of Life
Copyright © 2009 Pearson Education, Inc.
2.2 The Molecule of Life
• Evidence that DNA Is the Inherited Genetic Material
– 1944 Oswald Avery, Colin MacLeod, and Maclyn
McCarty
• Purified DNA from large batches of Streptococcus
pneumoniae
• Experiment proved that DNA was the transforming factor in
the Griffith experiments
Copyright © 2009 Pearson Education, Inc.
2.2 The Molecule of Life
• DNA Structure
– Building block of DNA is the nucleotide
– Each nucleotide is composed of
• Pentose (5-carbon) sugar called deoxyribose
• Phosphate molecule
• A nitrogenous base
– The nitrogenous bases are the interchangeable
component of a nucleotide
• Each nucleotide contains one base
– Adenine (A), thymine (T), guanine (G) or cytosine (C)
Copyright © 2009 Pearson Education, Inc.
2.2 The Molecule of Life
Copyright © 2009 Pearson Education, Inc.
2.2 The Molecule of Life
• DNA Structure
– James Watson and Francis Crick revealed the definitive
structure of DNA
– “The Molecular Structure of Nucleic Acids: A Structure for
Deoxyribose Nucleic Acid” published in Nature on April
25, 1953
Copyright © 2009 Pearson Education, Inc.
2.2 The Molecule of Life
• DNA Structure
– Nucleotides are joined together to form long strands of
DNA and each DNA molecule consists of two strands
that join together and wrap around each other to form a
double helix
– Nucleotides in a strand are held together by
phosphodiester bonds
– Each strand has a polarity – a 5 end and a 3 end
Copyright © 2009 Pearson Education, Inc.
2.2 The Molecule of Life
• DNA Structure
– The two strands of a DNA molecule are held together by
hydrogen bonds
• Formed between complementary base pairs
• Adenine (A) pairs with thymine (T)
• Guanine (G) pairs with cytosine (C)
– The two strands are antiparallel because their polarity
is reversed relative to each other
Copyright © 2009 Pearson Education, Inc.
2.2 The Molecule of Life
Copyright © 2009 Pearson Education, Inc.
2.3 Chromosome Structure, DNA
Replication, and Genomes
• Chromosome Structure
– Chromosomes – highly coiled and tightly condensed
package of DNA and proteins
• Occurs only during DNA replication
– Chromatin – strings of DNA and DNA-binding proteins
called histones
• State of DNA inside the nucleus when the cell is NOT
dividing
Copyright © 2009 Pearson Education, Inc.
2.3 Chromosome Structure, DNA
Replication, and Genomes
• Most human cells have two sets (pairs) of 23
chromosomes, or 46 chromosomes total
– Called homologous pairs
– Autosomes – chromosomes 1-22
– Sex chromosomes – chromosome pair # 23
• X and Y chromosomes
• Gametes (sex cells) contain a single set of 23
chromosomes (haploid number, n)
Copyright © 2009 Pearson Education, Inc.
2.3 Chromosome Structure, DNA
Replication, and Genomes
• Chromosome consists of two thin, rodlike
structures of DNA called sister chromatids
– Exact replicas of each other copied during DNA
replication
– During cell division, each sister chromatid is
separated
Copyright © 2009 Pearson Education, Inc.
2.3 Chromosome Structure, DNA
Replication, and Genomes
• DNA Replication
– Cells divide by a process called mitosis
• Sex cells divide by a slightly different process called
meiosis
– Mitosis
• One cell divides to form two daughter cells, each with an
identical copy of the parent cell DNA
• In order to accomplish this, the DNA of the parent cell must
be copied prior to mitosis
Copyright © 2009 Pearson Education, Inc.
2.3 Chromosome Structure, DNA
Replication, and Genomes
• Semiconservative Replication
– Replication occurs in such a manner that, after
replication, each helix contains one original (parental)
DNA strand and one newly synthesized DNA strand
Copyright © 2009 Pearson Education, Inc.
2.3 Chromosome Structure, DNA
Replication, and Genomes
Copyright © 2009 Pearson Education, Inc.
2.3 Chromosome Structure, DNA
Replication, and Genomes
Steps in DNA Replication
1. Unwinding the DNA
– Helicase enzyme breaks the hydrogen bonds holding the two
DNA strands together; “unzips” DNA
– DNA binding proteins hold the strands apart
– Separation of strands occurs in regions called origins of
replication
2. Adding short segments of RNA
– Primase enzyme adds RNA primers
– RNA primers start the replication process
Copyright © 2009 Pearson Education, Inc.
2.3 Chromosome Structure, DNA
Replication, and Genomes
Steps in DNA Replication
3. Copying the DNA
– DNA polymerase enzyme binds to the
RNA primers
– Uses nucleotides to synthesize complementary strands
of DNA
– Always works in one direction – 5’ to 3’ direction
Copyright © 2009 Pearson Education, Inc.
2.3 Chromosome Structure, DNA
Replication, and Genomes
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
• Transcription – genes are copied (transcribed)
from DNA code to RNA code
• Translation – RNA code is read into a protein
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
• Transcription
– Occurs only in genes
– RNA polymerase unwinds DNA helix and copies one
strand of DNA into RNA
• Binds to a promotor region
• Copies DNA in a 5’ to 3’ direction into RNA
• Uses nucleotides
– Adenine, uracil, guanine, and cytosine
– A-U, C-G
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
• Transcription
– At end of gene, RNA polymerase encounters the
termination sequence
• RNA polymerase and newly formed strand of RNA are
released from DNA molecule
– RNA strand is called a messenger RNA (mRNA)
– Multiple copies of mRNA are transcribed from each gene
during transcription
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
• mRNA Processing
– Initial mRNA produced is the primary transcript
• Immature and not fully functional
– A series of modifications before primary transcripts are
ready for protein synthesis
• RNA splicing
• Polyadenylation
• Addition of a 5’ cap
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
• How Is mRNA read?
– Genetic code – universal language of genetics used by
virtually all living organisms
• Works in three nucleotide units of mRNA called codons
• Each codon codes for a single amino acid
• One amino acid may be coded for by more than one codon
• Start codon
• Stop codons
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
• Translation
– Occurs in the cytoplasm
– Function of each type of RNA
• mRNA – exact copy of the gene; carries the genetic code
from nucleus to the cytoplasm
• rRNA – component of ribosomes, the organelles
responsible for protein synthesis
• tRNA – transports amino acids to ribosome
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
Translation
1. Initiation – small ribosome subunit binds to 5’ end of
mRNA
– Moves along the mRNA until the start codon is found
2. Elongation – tRNAs, carrying the correct amino acid,
enter the ribosome, one at a time, as the mRNA code
is read
3. Termination – ribosome encounters the stop codon
– Newly formed protein is released
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
• Basics of Gene Expression Control
– Gene expression refers to the production of mRNA by a
cell
• All cells of an organism contain the same genome,
so how and why are skin cells different from brain
cells or liver cells?
– Because cells can regulate or control the genes they
express
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
• Basics of Gene Expression Control
– Gene regulation is how genes can be turned on and off
in response to different signals
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
• Basics of Gene Expression Control
– Transcriptional regulation – controlling the amount of
mRNA transcribed from a particular gene
• Certain sequences found in the promotor region
– TATA box and CAAT box
• RNA polymerase cannot bind to promotor region without
presence of transcription factors
• Enhancer sequences bind to regulatory proteins called
activators
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
• Basics of Gene Expression Control
– Micro RNA (miRNA) regulate gene expression by
“silencing” gene expression through blocking translation
of mRNA or by causing degradation of mRNA
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
• Basics of Gene Expression Control
– Bacteria use operons to regulate gene expression
• Organization of bacterial genes
• Clusters of several related genes located together and
controlled by a single promotor
• Operator – region within promotor
– Can use operons to regulate gene expression in
response to their nutrient requirements
• lac operon
Copyright © 2009 Pearson Education, Inc.
2.4 RNA and Protein Synthesis
Copyright © 2009 Pearson Education, Inc.
2.5 Mutations: Causes and Consequences
• Mutation – change in the nucleotide sequence of DNA
– Major cause of genetic diversity
– Can also be detrimental
• Types of Mutations
– Point mutations
• Silent mutations
• Missense mutations
• Nonsense mutations
• Frameshift mutations
Copyright © 2009 Pearson Education, Inc.
2.5 Mutations: Causes and Consequences
Copyright © 2009 Pearson Education, Inc.
2.5 Mutations: Causes and Consequences
• Gene mutations can be inherited or acquired
– Inherited mutations are those passed on to offspring
through gametes
– Acquired mutations occur in the genome of somatic cells
• Are not passed along to offspring
Copyright © 2009 Pearson Education, Inc.
2.5 Mutations: Causes and Consequences
• Mutations are a major cause of genetic diversity
– Human genomes are approximately 99.9% identical
• 0.1% differences in DNA between individuals, or one base
out of every thousand
– Roughly 3 million differences between different
individuals
• Most have no obvious effects; other mutations strongly
influence cell functions, behavior, and susceptibility to
genetic diseases

02_Lecture_Presentation.ppt on genes by prof lraymond

  • 1.
    Copyright © 2009Pearson Education, Inc. PowerPoint Lectures for Introduction to Biotechnology, Second Edition William J.Thieman and Michael A.Palladino Lectures by Lara Dowland Chapter 2 An Introduction to Genes and Genomes Prof. Dr. Ekrem Gürel
  • 2.
    Copyright © 2009Pearson Education, Inc. Chapter Contents • 2.1 A Review of Cell Structure • 2.2 The Molecule of Life • 2.3 Chromosome Structure, DNA Replication, and Genomes • 2.4 RNA and Protein Synthesis • 2.5 Mutations: Causes and Consequences
  • 3.
    Copyright © 2009Pearson Education, Inc. 2.1 A Review of Cell Structure • Plasma Membrane – double-layer structure of lipids and proteins that surrounds the outer surface of cells • Cytoplasm – inner contents of a cell between the nucleus and plasma membrane • Organelles – structures in the cell that perform specific functions
  • 4.
    Copyright © 2009Pearson Education, Inc. • Prokaryotic Cells (include bacteria) – No nucleus and no organelles 2.1 A Review of Cell Structure
  • 5.
    Copyright © 2009Pearson Education, Inc. 2.1 A Review of Cell Structure • Eukaryotic cells (plant cells, animal cells) – Have a nucleus and many organelles – Organelles • Nucleus • Mitochondria • Endoplasmic reticulum • Golgi apparatus
  • 6.
    Copyright © 2009Pearson Education, Inc. 2.1 A Review of Cell Structure
  • 7.
    Copyright © 2009Pearson Education, Inc. 2.1 A Review of Cell Structure • Comparison of Prokaryotic and Eukaryotic Cells
  • 8.
    Copyright © 2009Pearson Education, Inc. 2.2 The Molecule of Life • Evidence that DNA is the Inherited Genetic Material – 1869 Friedrich Miescher: “nuclein” • Could not be broken down by proteases • Had acidic properties: “nucleic acids” – 1928 Frederick Griffith • Two strains of Streptococcus pneumoniae – Virulent smooth strain (S cells) and harmless rough strain (R cells) • Demonstrated transformation – the uptake of DNA by bacterial cells
  • 9.
    Copyright © 2009Pearson Education, Inc. 2.2 The Molecule of Life
  • 10.
    Copyright © 2009Pearson Education, Inc. 2.2 The Molecule of Life • Evidence that DNA Is the Inherited Genetic Material – 1944 Oswald Avery, Colin MacLeod, and Maclyn McCarty • Purified DNA from large batches of Streptococcus pneumoniae • Experiment proved that DNA was the transforming factor in the Griffith experiments
  • 11.
    Copyright © 2009Pearson Education, Inc. 2.2 The Molecule of Life • DNA Structure – Building block of DNA is the nucleotide – Each nucleotide is composed of • Pentose (5-carbon) sugar called deoxyribose • Phosphate molecule • A nitrogenous base – The nitrogenous bases are the interchangeable component of a nucleotide • Each nucleotide contains one base – Adenine (A), thymine (T), guanine (G) or cytosine (C)
  • 12.
    Copyright © 2009Pearson Education, Inc. 2.2 The Molecule of Life
  • 13.
    Copyright © 2009Pearson Education, Inc. 2.2 The Molecule of Life • DNA Structure – James Watson and Francis Crick revealed the definitive structure of DNA – “The Molecular Structure of Nucleic Acids: A Structure for Deoxyribose Nucleic Acid” published in Nature on April 25, 1953
  • 14.
    Copyright © 2009Pearson Education, Inc. 2.2 The Molecule of Life • DNA Structure – Nucleotides are joined together to form long strands of DNA and each DNA molecule consists of two strands that join together and wrap around each other to form a double helix – Nucleotides in a strand are held together by phosphodiester bonds – Each strand has a polarity – a 5 end and a 3 end
  • 15.
    Copyright © 2009Pearson Education, Inc. 2.2 The Molecule of Life • DNA Structure – The two strands of a DNA molecule are held together by hydrogen bonds • Formed between complementary base pairs • Adenine (A) pairs with thymine (T) • Guanine (G) pairs with cytosine (C) – The two strands are antiparallel because their polarity is reversed relative to each other
  • 16.
    Copyright © 2009Pearson Education, Inc. 2.2 The Molecule of Life
  • 17.
    Copyright © 2009Pearson Education, Inc. 2.3 Chromosome Structure, DNA Replication, and Genomes • Chromosome Structure – Chromosomes – highly coiled and tightly condensed package of DNA and proteins • Occurs only during DNA replication – Chromatin – strings of DNA and DNA-binding proteins called histones • State of DNA inside the nucleus when the cell is NOT dividing
  • 18.
    Copyright © 2009Pearson Education, Inc. 2.3 Chromosome Structure, DNA Replication, and Genomes • Most human cells have two sets (pairs) of 23 chromosomes, or 46 chromosomes total – Called homologous pairs – Autosomes – chromosomes 1-22 – Sex chromosomes – chromosome pair # 23 • X and Y chromosomes • Gametes (sex cells) contain a single set of 23 chromosomes (haploid number, n)
  • 19.
    Copyright © 2009Pearson Education, Inc. 2.3 Chromosome Structure, DNA Replication, and Genomes • Chromosome consists of two thin, rodlike structures of DNA called sister chromatids – Exact replicas of each other copied during DNA replication – During cell division, each sister chromatid is separated
  • 20.
    Copyright © 2009Pearson Education, Inc. 2.3 Chromosome Structure, DNA Replication, and Genomes • DNA Replication – Cells divide by a process called mitosis • Sex cells divide by a slightly different process called meiosis – Mitosis • One cell divides to form two daughter cells, each with an identical copy of the parent cell DNA • In order to accomplish this, the DNA of the parent cell must be copied prior to mitosis
  • 21.
    Copyright © 2009Pearson Education, Inc. 2.3 Chromosome Structure, DNA Replication, and Genomes • Semiconservative Replication – Replication occurs in such a manner that, after replication, each helix contains one original (parental) DNA strand and one newly synthesized DNA strand
  • 22.
    Copyright © 2009Pearson Education, Inc. 2.3 Chromosome Structure, DNA Replication, and Genomes
  • 23.
    Copyright © 2009Pearson Education, Inc. 2.3 Chromosome Structure, DNA Replication, and Genomes Steps in DNA Replication 1. Unwinding the DNA – Helicase enzyme breaks the hydrogen bonds holding the two DNA strands together; “unzips” DNA – DNA binding proteins hold the strands apart – Separation of strands occurs in regions called origins of replication 2. Adding short segments of RNA – Primase enzyme adds RNA primers – RNA primers start the replication process
  • 24.
    Copyright © 2009Pearson Education, Inc. 2.3 Chromosome Structure, DNA Replication, and Genomes Steps in DNA Replication 3. Copying the DNA – DNA polymerase enzyme binds to the RNA primers – Uses nucleotides to synthesize complementary strands of DNA – Always works in one direction – 5’ to 3’ direction
  • 25.
    Copyright © 2009Pearson Education, Inc. 2.3 Chromosome Structure, DNA Replication, and Genomes
  • 26.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis • Transcription – genes are copied (transcribed) from DNA code to RNA code • Translation – RNA code is read into a protein
  • 27.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis
  • 28.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis • Transcription – Occurs only in genes – RNA polymerase unwinds DNA helix and copies one strand of DNA into RNA • Binds to a promotor region • Copies DNA in a 5’ to 3’ direction into RNA • Uses nucleotides – Adenine, uracil, guanine, and cytosine – A-U, C-G
  • 29.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis • Transcription – At end of gene, RNA polymerase encounters the termination sequence • RNA polymerase and newly formed strand of RNA are released from DNA molecule – RNA strand is called a messenger RNA (mRNA) – Multiple copies of mRNA are transcribed from each gene during transcription
  • 30.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis
  • 31.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis • mRNA Processing – Initial mRNA produced is the primary transcript • Immature and not fully functional – A series of modifications before primary transcripts are ready for protein synthesis • RNA splicing • Polyadenylation • Addition of a 5’ cap
  • 32.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis • How Is mRNA read? – Genetic code – universal language of genetics used by virtually all living organisms • Works in three nucleotide units of mRNA called codons • Each codon codes for a single amino acid • One amino acid may be coded for by more than one codon • Start codon • Stop codons
  • 33.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis
  • 34.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis • Translation – Occurs in the cytoplasm – Function of each type of RNA • mRNA – exact copy of the gene; carries the genetic code from nucleus to the cytoplasm • rRNA – component of ribosomes, the organelles responsible for protein synthesis • tRNA – transports amino acids to ribosome
  • 35.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis Translation 1. Initiation – small ribosome subunit binds to 5’ end of mRNA – Moves along the mRNA until the start codon is found 2. Elongation – tRNAs, carrying the correct amino acid, enter the ribosome, one at a time, as the mRNA code is read 3. Termination – ribosome encounters the stop codon – Newly formed protein is released
  • 36.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis
  • 37.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis • Basics of Gene Expression Control – Gene expression refers to the production of mRNA by a cell • All cells of an organism contain the same genome, so how and why are skin cells different from brain cells or liver cells? – Because cells can regulate or control the genes they express
  • 38.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis • Basics of Gene Expression Control – Gene regulation is how genes can be turned on and off in response to different signals
  • 39.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis
  • 40.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis • Basics of Gene Expression Control – Transcriptional regulation – controlling the amount of mRNA transcribed from a particular gene • Certain sequences found in the promotor region – TATA box and CAAT box • RNA polymerase cannot bind to promotor region without presence of transcription factors • Enhancer sequences bind to regulatory proteins called activators
  • 41.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis • Basics of Gene Expression Control – Micro RNA (miRNA) regulate gene expression by “silencing” gene expression through blocking translation of mRNA or by causing degradation of mRNA
  • 42.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis • Basics of Gene Expression Control – Bacteria use operons to regulate gene expression • Organization of bacterial genes • Clusters of several related genes located together and controlled by a single promotor • Operator – region within promotor – Can use operons to regulate gene expression in response to their nutrient requirements • lac operon
  • 43.
    Copyright © 2009Pearson Education, Inc. 2.4 RNA and Protein Synthesis
  • 44.
    Copyright © 2009Pearson Education, Inc. 2.5 Mutations: Causes and Consequences • Mutation – change in the nucleotide sequence of DNA – Major cause of genetic diversity – Can also be detrimental • Types of Mutations – Point mutations • Silent mutations • Missense mutations • Nonsense mutations • Frameshift mutations
  • 45.
    Copyright © 2009Pearson Education, Inc. 2.5 Mutations: Causes and Consequences
  • 46.
    Copyright © 2009Pearson Education, Inc. 2.5 Mutations: Causes and Consequences • Gene mutations can be inherited or acquired – Inherited mutations are those passed on to offspring through gametes – Acquired mutations occur in the genome of somatic cells • Are not passed along to offspring
  • 47.
    Copyright © 2009Pearson Education, Inc. 2.5 Mutations: Causes and Consequences • Mutations are a major cause of genetic diversity – Human genomes are approximately 99.9% identical • 0.1% differences in DNA between individuals, or one base out of every thousand – Roughly 3 million differences between different individuals • Most have no obvious effects; other mutations strongly influence cell functions, behavior, and susceptibility to genetic diseases