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Chapter 4 Cellular
Metabolism

CELLS AND THE FLOW OF ENERGY

• Energy is the ability to do work.

• Living things need to acquire energy; this is a
characteristic of life.
• Cells use acquired energy to:
• Maintain their organization
• Carry out reactions that allow cells to develop,
grow, and reproduce

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FORMS OF ENERGY

• There are two basic forms of energy.

• Kinetic energy is the energy of motion.
• Potential energy is stored energy.
• Food eaten has potential energy because it can be
converted into kinetic energy.
• Potential energy in foods is chemical energy.
• Organisms can convert chemical energy into a
form of kinetic energy called mechanical energy
for motion.

TWO LAWS OF THERMODYNAMICS

• The flow of energy in ecosystems occurs in one

direction; energy does not cycle.
• The two laws of thermodynamics explain this
phenomenon.

• First Law: Energy cannot be created or destroyed,

but it can be changed from one form to another.

• Second Law: Energy cannot be changed from one

form to another without loss of usable energy.

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FLOW OF ENERGY

• Energy exists in several different forms.

• When energy transformations occur, energy is
neither created nor destroyed but there is always
loss of usable energy, usually as heat.
• For this reason, living things depend on an outside
source of energy.
• The ultimate source of energy for ecosystems is the
sun, and this energy is passed from plants to
animals.

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CELLS AND ENTROPY

• The term entropy is used to indicate the relative

state of disorganization.
• Cells need a constant supply of energy to
maintain their internal organization.
• Complex molecules like glucose tend to break
apart into their building blocks, in this case
carbon dioxide and water.
• This is because glucose is more organized, and
thus less stable, than its breakdown products.
• The result is a loss of potential energy and an
increase in entropy.

CELLS AND ENTROPY

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METABOLIC REACTIONS AND

ENERGY TRANSFORMATIONS

• Metabolism is the sum of all the chemical

reactions that occur in a cell.
• Reactants are substances that participate
in a reaction; products are substances
that form as a result of a reaction.
• A reaction will occur spontaneously if it
increases entropy.
• Biologists use the term “free energy”
instead of entropy for cells.

• Free energy, G, is the amount of energy to

do work after a reaction has occurred.

• ΔG (change in free energy) is calculated by

subtracting the free energy of reactants
from that of products.

• A negative ΔG means the products have

less free energy than the reactants, and the
reaction will occur spontaneously.

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• Exergonic reactions have a negative ΔG and energy is

released.

• Endergonic reactions have a positive ΔG and occur

only if there is an input of energy.

• Energy released from exergonic reactions is used to

drive endergonic reactions inside cells.

• ATP is the energy carrier between exergonic and

endergonic reactions.

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ATP: ENERGY FOR CELLS

• ATP (adenosine triphosphate) is the energy

currency of cells.
• ATP is constantly regenerated from ADP
(adenosine diphosphate) after energy is
expended by the cell.
• Use of ATP by the cell has advantages:

1. It can be used in many types of reactions.

2. When ATP → ADP + P, energy released is sufficient
for cellular needs and little energy is wasted.

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3. ATP is coupled to endergonic reactions in such a

way that it minimizes energy loss.

• ATP is a nucleotide made of adenine and ribose

and three phosphate groups.
• ATP is called a “high-energy” compound because
a phosphate group is easily removed.

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THE ATP CYCLE

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COUPLED REACTIONS

• In coupled reactions, energy released by an

exergonic reaction drives an endergonic reaction.

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COUPLED REACTIONS

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FUNCTION OF ATP

• Cells make use of ATP for:

• Chemical work – ATP supplies energy to
synthesize macromolecules, and therefore
the organism
• Transport work – ATP supplies energy
needed to pump substances across the
plasma membrane
• Mechanical work – ATP supplies energy for
cellular movements

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Two types of metabolic

reactions

Anabolism Catabolism
• larger molecules • larger molecules
are made are broken down
• requires energy • releases energy

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ANABOLISM

Anabolism provides the substances needed for

cellular growth and repair
Dehydration synthesis
• type of anabolic process
• used to make polysaccharides, triglycerides,
and proteins
• produces water

4-3

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ANABOLISM

4-4

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CATABOLISM

Catabolism breaks down larger molecules into smaller ones

Hydrolysis
• a catabolic process
• used to decompose carbohydrates, lipids, and
proteins
• water is used
• reverse of dehydration synthesis

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CATABOLISM

4-6

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METABOLIC PATHWAYS AND

ENZYMES
• Cellular reactions are usually part of a metabolic
pathway, a series of linked reactions, illustrated as
follows:
• E1 E2 E3 E4 E5 E6 A → B →
C → D → E →F → G
• Here, the letters A-F are reactants or substrates, B-G
are the products in the various reactions, and E1-E6
are enzymes.

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• An enzyme is a protein molecule that functions as

an organic catalyst to speed a chemical reaction.
• An enzyme brings together particular molecules
and causes them to react.
• The reactants in an enzymatic reaction are called
the substrates for that enzyme.

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ENZYME-SUBSTRATE COMPLEXES

• Every reaction in a cell requires a specific

enzyme.
• Enzymes are named for their substrates:

Substrate Enzyme
• Lipid Lipase
• Urea Urease
• Maltose Maltase
• Ribonucleic acid Ribonuclease

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• Only one small part of an enzyme, called the active site,

complexes with the substrate(s).
• The active site may undergo a slight change in shape,
called induced fit, in order to accommodate the
substrate(s).
• The enzyme and substrate form an enzyme-substrate
complex during the reaction.
• The enzyme is not changed by the reaction, and it is
free to act again.

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CONTROL OF METABOLIC REACTIONS

Enzymes
• control rates of metabolic reactions
• lower activation energy needed to start reactions
• globular proteins with specific shapes
• not consumed in chemical reactions
• substrate specific
• shape of active site determines substrate

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ENZYMATIC REACTION

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INDUCED FIT MODEL

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FACTORS AFFECTING ENZYMATIC

SPEED
• Enzymatic reactions proceed with great speed
provided there is enough substrate to fill active sites
most of the time.
• Enzyme activity increases as substrate
concentration increases because there are more
collisions between substrate molecules and the
enzyme.

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TEMPERATURE AND PH

• As the temperature rises, enzyme activity increases

because more collisions occur between enzyme
and substrate.
• If the temperature is too high, enzyme activity levels
out and then declines rapidly because the enzyme
is denatured.
• Each enzyme has an optimal pH at which the rate
of reaction is highest.

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CHAPTER SUMMARY

• Two laws of thermodynamics state that energy

cannot be created or destroyed, and energy
transformations result in a loss of energy, usually as
heat.

• As a result of these laws, we know the entropy of

the universe is ever increasing, and that it takes
energy to maintain the organization of living things.

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CELLULAR RESPIRATION

• The overall equation for cellular respiration is

opposite that of photosynthesis:
C6H12O6 + 6O2 → 6CO2 + 6H2O + Energy

• In this reaction, glucose is oxidized and oxygen is

reduced to become water.

• The complete oxidation of a mol of glucose

releases 686 kcal of energy that is used to synthesize
ATP.

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• Metabolism refers to all the chemical reactions in

the cell.
• Only reactions with a negative free energy occur
spontaneously.
• Endergonic reactions are thus coupled with
exergonic reactions.
• Energy is stored in cells in ATP molecules.
• Metabolic pathways are a series of enzyme-
catalyzed reactions.

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• Each reaction requires a specific enzyme.

• Substrate concentration, temperature, pH,
and enzyme concentration affect the rates
of reactions.
• Most metabolic pathways are regulated by
feedback inhibition.
• Cellular respiration involves oxidation-
reduction reactions and accounts for the
flow of energy through all living things.

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CELLULAR RESPIRATION
Occurs in three series of reactions
1. Glycolysis
2. Citric acid cycle
3. Electron transport chain
Produces
• carbon dioxide
• water
• ATP (chemical energy)
• heat
Includes
• anaerobic reactions (without O2) - produce little ATP
• aerobic reactions (requires O2) - produce most ATP
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OVERVIEW OF CELLULAR
RESPIRATION
• Cellular respiration is the step-wise release of energy
from carbohydrates and other molecules; energy
from these reactions is used to synthesize ATP
molecules.

• This is an aerobic process that requires oxygen (O2)

and gives off carbon dioxide (CO2), and involves
the complete breakdown of glucose to carbon
dioxide and water.

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• The oxidation of glucose is an exergonic reaction

(releases energy) which drives ATP synthesis, which is
an endergonic reaction (energy is required).

• The overall equation for cellular respiration shows the

coupling of glucose breakdown to ATP buildup.

• The breakdown of one glucose molecule results in a

maximum of 36 to 38 ATP molecules, representing
about 40% of the potential energy within the glucose
molecule.

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ATP MOLECULES

• Each ATP molecule has three parts:

• an adenine molecule
• a ribose molecule
• three phosphate molecules in a chain
•third phosphate attached by high-energy bond
•when the bond is broken, energy is transferred
• when the bond is broken, ATP becomes ADP
• ADP becomes ATP through phosphorylation
• phosphorylation requires energy released from cellular
respiration

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CELLULAR RESPIRATION

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PHASES OF COMPLETE GLUCOSE

BREAKDOWN
• The oxidation of glucose by removal of hydrogen
atoms involves four phases:

• Glycolysis – the breakdown of glucose to two

molecules of pyruvate in the cytoplasm with no
oxygen needed; yields 2 ATP
• Transition reaction – pyruvate is oxidized to a 2-
carbon acetyl group carried by CoA, and CO2 is
removed; occurs twice per glucose molecule

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• Citric acid cycle – a cyclical series of oxidation

reactions that give off CO2 and produce one
ATP per cycle; occurs twice per glucose
molecule
• Electron transport system – a series of carriers
that accept electrons removed from glucose
and pass them from one carrier to the next
until the final receptor, O2 is reached; water is
produced; energy is released and used to
synthesize 32 to 34 ATP
• If oxygen is not available, fermentation occurs
in the cytoplasm instead of proceeding to
cellular respiration.

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OUTSIDE THE MITOCHONDRIA:

GLYCOLYSIS
• Glycolysis occurs in the cytoplasm and is the
breakdown of glucose to two pyruvate molecules.

• Glycolysis is universally found in all organisms and

likely evolved before the citric acid cycle and
electron transport system.

• Glycolysis does not require oxygen.

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GLYCOLYSIS

• series of ten reactions

• breaks down glucose into 2 pyruvic acids
• occurs in cytosol
• anaerobic phase of cellular respiration
• yields two ATP molecules per glucose

Summarized by three main events

1. phosphorylation
2. splitting
3. production of NADH and ATP

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ENERGY-INVESTMENT STEPS

• As glycolysis begins, two ATP are used to activate

glucose, a 6-carbon molecule that splits into two C3
molecules known as PGAL.
• PGAL carries a phosphate group from ATP.
• From this point on, each C3 molecule undergoes
the same series of reactions.

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GLYCOLYSIS
Event 1 -
Phosphorylation
• two phosphates
added to glucose
• requires ATP
Event 2 – Splitting
(cleavage)
• 6-carbon glucose
split into two 3-carbon
molecules

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ENERGY-HARVESTING STEPS

• Oxidation of PGAL now occurs by the removal of

electrons that are accompanied by hydrogen ions,
both picked up by the coenzyme NAD+:

2 NAD+ + 4H → 2 NADH + 2 H+

• The oxidation of PGAL and subsequent substrates

results in four high-energy phosphate groups used
to synthesize ATP in substrate-level phosphorylation.

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GLYCOLYSIS

Event 3 – Production of NADH and ATP

• hydrogen atoms are released
• hydrogen atoms bind to NAD+ to
produce NADH
• NADH delivers hydrogen atoms to
electron transport chain if oxygen is
available
• ADP is phosphorylated to become
ATP
• two molecules of pyruvic acid are
produced

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GLYCOLYSIS SUMMARY

• Inputs: • Outputs:
• Glucose • 2 pyruvate
• 2 NAD+ • 2 NADH
• 2 ATP • 2 ADP
• 4 ADP + 2 P • 2 ATP (net gain)

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ANAEROBIC REACTIONS

If oxygen is not available

• electron transport
chain cannot accept
NADH
• pyruvic acid is
converted to lactic
acid
• glycolysis is inhibited
• ATP production
declines

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AEROBIC REACTIONS

If oxygen is available –
• pyruvic acid is
used to produce
acetyl CoA
• citric acid cycle
begins
• electron transport
chain functions
• carbon dioxide
and water are
formed
• 36 molecules of
ATP produced per 4-17
glucose molecule
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INSIDE THE MITOCHONDRIA

• A mitochondrion is a cellular organelle that has a

double membrane, with an intermembrane space
between the two layers.
• Cristae are folds of inner membrane that jut out into
the matrix, the innermost compartment, which is
filled with a gel-like fluid.
• The transition reaction and citic acid cycle occur in
the matrix; the electron transport system is located
in the cristae.

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TRANSITION REACTION

• The transition reaction connects glycolysis to

the citric acid cycle, and is thus the
transition between these two pathways.
• Pyruvate is converted to a C2 acetyl group
attached to coenzyme A (CoA), and CO2 is
released.
• During this oxidation reaction, NAD+ is
converted to NADH + H+; the transition
reaction occurs twice per glucose
molecule.

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CITRIC ACID CYCLE

• The citric acid cycle is a cyclical metabolic

pathway located in the matrix of the
mitochondria.
• At the start of the citric acid cycle, CoA
carries the C2 acetyl group to join a C4
molecule, and C6 citrate results.
• Each acetyl group received from the
transition reaction is oxidized to 2 CO2
molecules.

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• During the cycle, oxidation occurs when NAD+

accepts electrons in three sites and FAD accepts
electrons once.
• Substrate-level phosphorylation results in a gain
of one ATP per every turn of the cycle; it turns
twice per glucose.
• During the citric acid cycle, the six carbon atoms
in glucose become CO2.
• The transition reaction produces two CO2, and
the citric acid cycle produces four CO2 per
molecule of glucose.
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CITRIC ACID CYCLE

• begins when acetyl CoA

combines with oxaloacetic
acid to produce citric acid
• citric acid is changed into
oxaloacetic acid through a
series of reactions
• cycle repeats as long as
pyruvic acid and oxygen are
available

• for each citric acid

molecule:
• one ATP is produced
• eight hydrogen atoms
are transferred to NAD+
and FAD
• two CO2 produced
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CITRIC ACID CYCLE

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CITRIC ACID CYCLE INPUTS AND

OUTPUTS PER GLUCOSE MOLECULE

• Inputs: • Outputs:
• 2 acetyl groups • 4 CO2
• 6 NAD+ • 6 NADH
• 2 FAD • 2 FADH2
• 2 ADP + 2 P • 2 ATP

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ELECTRON TRANSPORT SYSTEM

• The electron transport system located in the

cristae of mitochondria is a series of protein
carriers, that pass electrons from one to the
other.
• Electrons carried by NADH and FADH2 enter
the electron transport system.
• As a pair of electrons is passed from carrier
to carrier, energy is released and is used to
form ATP molecules by oxidative
phosphorylation.

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• Oxygen receives energy-spent electrons at the end of

the electron transport system.
• Next, oxygen combines with hydrogen, and water
forms:
• ½ O2 + 2 e- + 2 H+ → H2O
• When NADH carries electrons to the first carrier,
enough energy is released by the time electrons are
accepted by O2 to produce three ATP; two ATP are
produced when FADH2 delivers electrons to the
carriers.

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OVERVIEW OF THE ELECTRON

TRANSPORT SYSTEM

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ORGANIZATION OF CRISTAE

• The electron transport system is located in the

cristae of the mitochondria and consists of three
protein complexes and two mobile carriers.

• The mobile carriers transport electrons between the

complexes, which also contain electron carriers.

• The carriers use the energy released by electrons as

they move down the carriers to pump H+ from the
matrix into the intermembrane space of the
mitochondrion.

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• A very strong electrochemical gradient is

established with few H+ in the matrix and
many in the intermembrane space.

• The cristae also contain an ATP synthase

complex through which hydrogen ions flow
down their gradient from the
intermembrane space into the matrix.

• The flow of three H+ through an ATP synthase

complex causes a conformational change,
which causes the ATP synthase to synthesize
ATP from ADP + P.

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• Mitochondria produce ATP by chemiosmosis, so

called because ATP production is tied to an
electrochemical gradient, namely an H+ gradient.
• Once formed, ATP molecules are transported out of
the mitochondrial matrix.

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ORGANIZATION OF CRISTAE

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ELECTRON TRANSPORT CHAIN

• NADH and FADH2 carry electrons to the ETC

• ETC series of electron carriers located in cristae of
mitochondria
• energy from electrons transferred to ATP synthase
• ATP synthase catalyzes the phosphorylation of ADP to ATP
• water is formed

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ENERGY YIELD FROM GLUCOSE

METABOLISM
• Per glucose molecule, there is a net gain of two ATP
from glycolysis, which occurs in the cytoplasm by
substrate-level phosphorylation.

• The citric acid cycle, occurring in the matrix of

mitochondria, adds two more ATP, also by
substrate-level phosphorylation.

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• Most ATP is produced by the electron transport system

and chemiosmosis.

• Per glucose molecule, ten NADH and two FADH2 take

electrons to the electron transport system; three ATP are
formed per NADH and two ATP per FADH2.

• Electrons carried by NADH produced during glycolysis

are shuttled to the electron transport chain by an
organic molecule.

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ACCOUNTING OF ENERGY YIELD PER

GLUCOSE MOLECULE BREAKDOWN

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SUMMARY OF CELLULAR
RESPIRATION

4-20

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SUMMARY OF CATABOLISM OF
PROTEINS, CARBOHYDRATES, AND
FATS

4-21

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CARBOHYDRATE STORAGE

Excess glucose stored as

• glycogen (primarily by liver and muscle cells)
• fat
• converted to amino acids

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NUCLEIC ACIDS AND

PROTEIN SYNTHESIS

Genetic information – instructs cells how to construct

proteins; stored in DNA
Gene – segment of DNA that codes for one protein
Genome – complete set of genes
Genetic Code – method used to translate a sequence of
nucleotides of DNA into a sequence of amino acids

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DNA STRUCTURE AND REPLICATION

• In the mid-1900s, scientists knew that chromosomes,

made up of DNA (deoxyribonucleic acid) and
proteins, contained genetic information.

• However, they did not know whether the DNA or

the proteins was the actual genetic material.

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STRUCTURE OF DNA

• The structure of DNA was determined by

James Watson and Francis Crick in the early
1950s.
• DNA is a polynucleotide; nucleotides are
composed of a phosphate, a sugar, and a
nitrogen-containing base.
• DNA has the sugar deoxyribose and four
different bases: adenine (A), thymine (T),
guanine (G), and cytosine (C).

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ONE PAIR OF BASES

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• Watson and Crick showed that DNA is a double helix

in which A is paired with T and G is paired with C.
• This is called complementary base pairing because a
purine is always paired with a pyrimidine.

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• When the DNA double helix unwinds, it resembles a

ladder.

• The sides of the ladder are the sugar-phosphate

backbones, and the rungs of the ladder are the
complementary paired bases.

• The two DNA strands are anti-parallel – they run in

opposite directions.

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DNA DOUBLE HELIX

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REPLICATION OF DNA

• DNA replication occurs during chromosome

duplication; an exact copy of the DNA is produced
with the aid of DNA polymerase.

• Hydrogen bonds between bases break and enzymes

“unzip” the molecule.

• Each old strand of nucleotides serves as a template

for each new strand.

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• New nucleotides move into complementary

positions are joined by DNA polymerase.

• The process is semiconservative because each new

double helix is composed of an old strand of
nucleotides from the parent molecule and one
newly-formed strand.

• Some cancer treatments are aimed at stopping

DNA replication in rapidly-dividing cancer cells.

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LADDER CONFIGURATION AND

DNA REPLICATION

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GENE EXPRESSION

• A gene is a segment of DNA that specifies the

amino acid sequence of a protein.

• Gene expression occurs when gene activity leads to

a protein product in the cell.

• A gene does not directly control protein synthesis;

instead, it passes its genetic information on to RNA,
which is more directly involved in protein synthesis.

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RNA

• RNA (ribonucleic acid) is a single-stranded nucleic

acid in which A pairs with U (uracil) while G pairs
with C.

• Three types of RNA are involved in gene expression:

messenger RNA (mRNA) carries genetic information
to the ribosomes, ribosomal RNA (rRNA) is found in
the ribosomes, and transfer RNA (tRNA) transfers
amino acids to the ribosomes, where the protein
product is synthesized.

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STRUCTURE OF RNA

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• Two processes are involved in the synthesis of

proteins in the cell:

• Transcription makes an RNA molecule

complementary to a portion of DNA.

• Translation occurs when the sequence of bases of

mRNA directs the sequence of amino acids in a
polypeptide.

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THE GENETIC CODE

• DNA specifies the synthesis of proteins because it

contains a triplet code: every three bases stand for
one amino acid.

• Each three-letter unit of an mRNA molecule is called

a codon.

• Most amino acids have more than one codon; there

are 20 amino acids with a possible 64 different
triplets.

• The code is nearly universal among living organisms.

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MESSENGER RNA CODONS

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CENTRAL CONCEPT

• The central concept of genetics involves the DNA-

to-protein sequence involving transcription and
translation.
• DNA has a sequence of bases that is transcribed
into a sequence of bases in mRNA.
• Every three bases is a codon that stands for a
particular amino acid.

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TRANSCRIPTION

• During transcription in the nucleus, a segment of

DNA unwinds and unzips, and the DNA serves as a
template for mRNA formation.
• RNA polymerase joins the RNA nucleotides so that
the codons in mRNA are complementary to the
triplet code in DNA.

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TRANSCRIPTION AND MRNA SYNTHESIS

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PROCESSING OF MRNA

• DNA contains exons and introns.

• Before mRNA leaves the nucleus, it is processed and
the introns are excised so that only the exons are
expressed.
• The splicing of mRNA is done by ribozymes, organic
catalysts composed of RNA, not protein.
• Primary mRNA is processed into mature mRNA.

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FUNCTION OF INTRONS

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TRANSLATION

• Translation is the second step by which gene

expression leads to protein synthesis.
• During translation, the sequence of codons in
mRNA specifies the order of amino acids in a
protein.
• Translation requires several enzymes and two other
types of RNA: transfer RNA and ribosomal RNA.

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TRANSFER RNA

• During translation, transfer RNA (tRNA) molecules

attach to their own particular amino acid and
travel to a ribosome.
• Through complementary base pairing between
anticodons of tRNA and codons of mRNA, the
sequence of tRNAs and their amino acids form the
sequence of the polypeptide.

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TRANSFER RNA: AMINO ACID

CARRIER

111

RIBOSOMAL RNA

• Ribosomal RNA, also called structural RNA, is made

in the nucleolus.
• Proteins made in the cytoplasm move into the
nucleus and join with ribosomal RNA to form the
subunits of ribosomes.
• A large subunit and small subunit of a ribosome
leave the nucleus and join in the cytoplasm to form
a ribosome just prior to protein synthesis.

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• A ribosome has a binding site for mRNA as well

as binding sites for two tRNA molecules at a
time.
• As the ribosome moves down the mRNA
molecule, new tRNAs arrive, and a polypeptide
forms and grows longer.
• Translation terminates once the polypeptide is
fully formed; the ribosome separates into two
subunits and falls off the mRNA.
• Several ribosomes may attach and translate the
same mRNA, therefore the name polyribosome.

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POLYRIBOSOME STRUCTURE AND

FUNCTION

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TRANSLATION REQUIRES THREE STEPS

• During translation, the codons of an mRNA base-

pair with tRNA anticodons.
• Protein translation requires these steps:
1) Chain initiation
2) Chain elongation
3) Chain termination.

• Enzymes are required for each step, and the first

two steps require energy.

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CHAIN INITIATION

• During chain initiation, a small ribosomal subunit, the

mRNA, an initiator tRNA, and a large ribosomal unit
bind together.
• First, a small ribosomal subunit attaches to the
mRNA near the start codon.
• The anticodon of tRNA, called the initiator RNA,
pairs with this codon.
• Then the large ribosomal subunit joins.

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INITIATION

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CHAIN ELONGATION

• During chain elongation, the initiator tRNA passes its

amino acid to a tRNA-amino acid complex that has
come to the second binding site.
• The ribosome moves forward and the tRNA at the
second binding site is now at the first site, a
sequence called translocation.
• The previous tRNA leaves the ribosome and picks up
another amino acid before returning.

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ELONGATION

119

CHAIN TERMINATION

• Chain termination occurs when a stop-codon

sequence is reached.
• The polypeptide is enzymatically cleaved from the
last tRNA by a release factor, and the ribosome falls
away from the mRNA molecule.
• A newly synthesized polypeptide may function
along or become part of a protein.

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TERMINATION

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REVIEW OF GENE EXPRESSION

• DNA in the nucleus contains a triplet code; each

group of three bases stands for one amino acid.
• During transcription, an mRNA copy of the DNA
template is made.
• The mRNA is processed before leaving the nucleus.
• The mRNA joins with a ribosome, where tRNA carries
the amino acids into position during translation.

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GENE MUTATIONS

• A gene mutation is a change in the sequence of

bases within a gene.

• Frameshift Mutations
• Frameshift mutations involve the addition or
removal of a base during the formation of mRNA;
these change the genetic message by shifting the
“reading frame.”

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POINT MUTATIONS

• The change of just one nucleotide causing a codon

change can cause the wrong amino acid to be
inserted in a polypeptide; this is a point mutation.
• In a silent mutation, the change in the codon results
in the same amino acid.

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• If a codon is changed to a stop codon, the resulting

protein may be too short to function; this is a
nonsense mutation.
• If a point mutation involves the substitution of a
different amino acid, the result may be a protein
that cannot reach its final shape; this is a missense
mutation.
• An example is Hbs which causes sickle-cell disease.

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SICKLE-CELL DISEASE IN HUMANS

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CAUSE AND REPAIR OF MUTATIONS

• Mutations can be spontaneous or caused by

environmental influences called mutagens.
• Mutagens include radiation (X-rays, UV radiation),
and organic chemicals (in cigarette smoke and
pesticides).
• DNA polymerase proof reads the new strand against
the old strand and detects mismatched pairs,
reducing mistakes to one in a billion nucleotide pairs
replicated.

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TRANSPOSONS: JUMPING GENES

• Transposons are specific DNA sequences that move

from place to place within and between
chromosomes.
• These so-called jumping genes can cause a
mutation to occur by altering gene expression.
• It is likely all organisms, including humans, have
transposons.

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CANCER: A FAILURE OF GENETIC

CONTROL
• Cancer is a genetic disorder resulting in a
tumor, an abnormal mass of cells.
• Carcinogenesis, the development of
cancer, is a gradual process.
• Cancer cells lack differentiation, form
tumors, undergo angiogenesis and
metastasize.
• Cancer cells fail to undergo apoptosis, or
programmed cell death.

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STRUCTURE OF DNA

• two polynucleotide
chains
• hydrogen bonds hold
nitrogenous bases
together
• bases pair specifically
(A-T and C-G)
• forms a helix
• DNA wrapped about
histones forms
chromosomes
4-25

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RNA MOLECULES
Messenger RNA (mRNA) -
• delivers genetic information
from nucleus to the cytoplasm

• single polynucleotide chain

• formed beside a strand of DNA

• RNA nucleotides are

complementary to DNA
nucleotides (exception – no
thymine in RNA; replaced with
uracil)

• making of mRNA is
4-26
transcription

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RNA MOLECULES

Transfer RNA (tRNA) -

• carries amino acids to mRNA
• carries anticodon to mRNA
• translates a codon of mRNA into an amino acid

Ribosomal RNA (rRNA) –

• provides structure and enzyme activity for ribosomes

4-27

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PROTEIN SYNTHESIS

4-28

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PROTEIN SYNTHESIS

4-29

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DNA REPLICATION

• hydrogen bonds break

between bases
• double strands unwind
and pull apart
• new nucleotides pair
with exposed bases
• controlled by DNA
polymerase

4-30

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MUTATIONS

Mutations – change in genetic

information
Result when
• extra bases are added or
deleted
• bases are changed
May or may not change the
protein

Repair enzymes correct

mutations 4-31

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CLINICAL APPLICATION

Phenylketonuria
PKU

• enzyme that breaks down the amino acid phenylalanine

is missing
• build up of phenylalanine causes mental retardation
• treated by diets very low in phenylalanine

4-32

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