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PowerPoint Lectures for Introduction to Biotechnology, Second Edition

William J.Thieman and Michael A.Palladino

Chapter 2
An Introduction to Genes and Genomes
Lectures by Lara Dowland

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

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2.1 A Review of Cell Structure


Prokaryotic Cells (include bacteria)
No nucleus and no organelles

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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

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2.1 A Review of Cell Structure

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2.1 A Review of Cell Structure


Comparison of Prokaryotic and Eukaryotic Cells

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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

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2.2 The Molecule of Life

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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

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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)

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2.2 The Molecule of Life

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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

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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

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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

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2.2 The Molecule of Life

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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

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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)

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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

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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

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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

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2.3 Chromosome Structure, DNA Replication, and Genomes

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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
Primase enzyme adds RNA primers RNA primers start the replication process

2. Adding short segments of RNA


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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

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2.3 Chromosome Structure, DNA Replication, and Genomes

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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

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2.4 RNA and Protein Synthesis

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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 promoter region Copies DNA in a 5 to 3 direction into RNA Uses nucleotides Adenine, uracil, guanine, and cytosine A-U, C-G

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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

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2.4 RNA and Protein Synthesis

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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

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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

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2.4 RNA and Protein Synthesis

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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

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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

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2.4 RNA and Protein Synthesis

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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

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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

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2.4 RNA and Protein Synthesis

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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

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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

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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

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2.4 RNA and Protein Synthesis

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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

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2.5 Mutations: Causes and Consequences

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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

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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

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