12/7/2020

The Flow of Genetic Information

 The information content of genes is in the specific

sequences of nucleotides
Chapter 17  The DNA inherited by an organism leads to
specific traits by dictating the synthesis of proteins

Expression of  Proteins are the links between genotype and

phenotype
Genes  Gene expression, the process by which DNA
directs protein synthesis, includes two stages:
transcription and translation

Lecture Presentations by
Nicole Tunbridge and
© 2018 Pearson Education Ltd.
Kathleen Fitzpatrick © 2018 Pearson Education Ltd.

Figure 17.1 Figure 17.1a

A single faulty gene result in the dramatic appearance of

these albino Deer?

An albino raccoon

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 12/7/2020

Concept 17.1: Genes specify proteins via Evidence from the Study of Metabolic Defects
transcription and translation
 How was the fundamental relationship between  In 1902, British physician Archibald Garrod first
genes and proteins discovered? suggested that genes dictate phenotypes through
enzymes that catalyze specific chemical reactions
 He thought symptoms of an inherited disease reflect
an inability to synthesize a certain enzyme
 Cells synthesize and degrade molecules in a series
of steps, a metabolic pathway

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The Products of Gene Expression:

– Assignment – A Developing Story
 Not all proteins are enzymes, so researchers later
Nutritional Mutants in Neurospora revised the hypothesis: one gene–one protein
 George Beadle and Edward Tatum exposed bread  Many proteins are composed of several
mold to X-rays, creating mutants that were unable to polypeptides, each of which has its own gene
survive on minimal media  Therefore, Beadle and Tatum’s hypothesis is now
 The results of the experiments provided support for restated as the one gene–one polypeptide
the one gene–one enzyme hypothesis hypothesis
 The hypothesis states that the function of a gene is  It is common to refer to gene products as proteins
to dictate production of a specific enzyme rather than polypeptides

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Basic Principles of Transcription and

Translation
 RNA is the bridge between genes and the proteins  In prokaryotes, translation of mRNA can begin
for which they code before transcription has finished
 Transcription is the synthesis of RNA using  In a eukaryotic cell, the nuclear envelope separates
information in DNA transcription from translation
 Transcription produces messenger RNA (mRNA)  Eukaryotic RNA transcripts are modified through
 Translation is the synthesis of a polypeptide, using RNA processing to yield the finished mRNA
information in the mRNA
 Ribosomes are the sites of translation

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Figure 17.4 Figure 17.4a_1

Nuclear
envelope

DNA
TRANSCRIPTION
DNA
TRANSCRIPTION
Pre-mRNA
RNA PROCESSING
CYTOPLASM mRNA
NUCLEUS mRNA

DNA
TRANSCRIPTION CYTOPLASM

CYTOPLASM mRNA TRANSLATION Ribosome

Ribosome
TRANSLATION
Polypeptide
Polypeptide
(a) Bacterial cell
(a) Bacterial cell (b) Eukaryotic cell

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Figure 17.4a_2 Figure 17.4b_1

Nuclear
envelope

DNA
TRANSCRIPTION
DNA
TRANSCRIPTION
Pre-mRNA

CYTOPLASM mRNA
NUCLEUS
Ribosome
TRANSLATION
CYTOPLASM

Polypeptide

(a) Bacterial cell

(b) Eukaryotic cell

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Figure 17.4b_2 Figure 17.4b_3

Nuclear Nuclear
envelope envelope

DNA DNA
TRANSCRIPTION TRANSCRIPTION

Pre-mRNA Pre-mRNA
RNA PROCESSING RNA PROCESSING

NUCLEUS mRNA NUCLEUS mRNA

CYTOPLASM CYTOPLASM

TRANSLATION Ribosome

Polypeptide

(b) Eukaryotic cell (b) Eukaryotic cell

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Figure 17.UN01

 A primary transcript is the initial RNA transcript

from any gene prior to processing
 The central dogma is the concept that cells are
governed by a cellular chain of command:
DNA → RNA → protein DNA RNA Protein

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The Genetic Code Codons: Triplets of Nucleotides

 How are the instructions for assembling amino acids  The flow of information from gene to protein is based
into proteins encoded into DNA? on a triplet code: a series of nonoverlapping, three-
 There are 20 amino acids, but there are only four nucleotide words
nucleotide bases in DNA  The words of a gene are transcribed into
 How many nucleotides correspond to an complementary nonoverlapping three-nucleotide
amino acid? words of mRNA
 These words are then translated into a chain of
amino acids, forming a polypeptide

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 12/7/2020

Figure 17.5 Figure 17.5a

DNA
DNA
molecule template 5′
strand 3′
Gene 1 A C C A A A C C G A G T

Gene 2
T G G T T T G G C T C A 3′
5′
Gene 3
TRANSCRIPTION
DNA
template 5′
3′
strand A C C A A A C C G A G T
mRNA U G G U U U G G C U C A
5′ 3′
T G G T T T G G C T C A 3′
5′

TRANSCRIPTION Codon
TRANSLATION
mRNA U G G U U U G G C U C A
5′ 3′
Codon
TRANSLATION Protein Trp Phe Gly Ser
Protein Trp Phe Gly Ser

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Amino acid
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Amino acid

 One of the two DNA strands, the template strand,  During translation, the mRNA base triplets, called
provides a template for ordering the sequence of codons, are read in the 5′ → 3′ direction
complementary nucleotides in an RNA transcript  The nontemplate strand is called the coding strand
 The template strand is always the same strand because the nucleotides of this strand are identical
for a given gene to the codons, except that T is present in the DNA in
 The strand used as the template is determined by place of U in the RNA
the orientation of the enzyme that transcribes the  Each codon specifies the amino acid (one of 20)
gene to be placed at the corresponding position along
 This in turn, depends on the DNA sequences a polypeptide
associated with the gene

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Figure 17.6
Cracking the Code Second mRNA base
U C A G
UUU Phe UCU UAU
Tyr UGU Cys U
UUC (F) UCC (Y) UGC (C) C
U Ser UAC
 All 64 codons were deciphered in the early 1960s UUA Leu UCA (S) UAA Stop UGA Stop A
UUG (L) UCG UAG Stop UGG Trp (W) G

Third mRNA base (3′ end of codon)

 Of the 64 triplets, 61 code for amino acids; 3 triplets

First mRNA base (5′ end of codon)

CUU U
are “stop” signals to end translation CCU CAU His
(H)
CGU
CUC Leu CCC Pro CAC CGC Arg C
C
 The genetic code is redundant (more than one CUA (L) CCA (P) CAA
Gln CGA
(R) A
(Q) CGG G
codon may specify a particular amino acid) but CUG CCG CAG

not ambiguous; no codon specifies more than AUU

Ile
ACU AAU Asn AGU
(N) AGC
Ser U
AUC ACC (S) C
Thr AAC
one amino acid A
AUA
(I)
ACA (T) AAA A
Lys AGA Arg
(K) AGG (R)
 Codons must be read in the correct reading frame AUG Met (M)
or start
ACG AAG G

(correct groupings) in order for the specified GUU GCU GAU Asp GGU U
GUC Val GCC GAC (D) GGC Gly C
polypeptide to be produced G (V)
Ala
(A) (G)
GUA GCA GAA Glu GGA A
GUG GCG GAG (E) GGG G
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Evolution of the Genetic Code Concept 17.2: Transcription is the DNA-directed

synthesis of RNA: a closer look
 Not included  Transcription is the first stage of gene expression

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Figure 17.8_1
Molecular Components of Transcription Promoter Transcription unit

5′ 3′
3′ 5′
Start point DNA
 RNA synthesis is catalyzed by RNA polymerase, 1 Initiation
RNA polymerase
which pries the DNA strands apart and joins together Unwound DNA
Nontemplate strand of DNA
the RNA nucleotides 5′ 3′
3′ 5′
Template strand of DNA
 The RNA is complementary to the DNA template RNA
transcript
strand
 RNA polymerase does not need any primer
 RNA synthesis follows the same base-pairing rules
as DNA, except that uracil substitutes for thymine

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Figure 17.8_2 Figure 17.8_3

Promoter Transcription unit Promoter Transcription unit

5′ 3′ 5′ 3′
3′ 5′ 3′ 5′
Start point DNA Start point DNA
RNA polymerase RNA polymerase
1 Initiation 1 Initiation
Unwound DNA Unwound DNA
Nontemplate strand of DNA Nontemplate strand of DNA
5′ 3′ 5′ 3′
3′ 5′ 3′ 5′
Template strand of DNA Template strand of DNA
RNA RNA
transcript transcript
2 Elongation 2 Elongation
Rewound Rewound
5′ DNA 3′ 5′ DNA 3′
3′ 3′
3′ 5′ 3′ 5′
5′ 5′
RNA Direction of RNA Direction of
transcript transcription transcript transcription
(“downstream”) 3 Termination (“downstream”)
5′ 3′
3′ 5′
5′ 3′
Completed RNA transcript

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Animation: Transcription

 The DNA sequence where RNA polymerase

attaches is called the promoter
 In bacteria, the sequence signaling the end of
transcription is called the terminator
 The stretch of DNA that is transcribed is called a
transcription unit

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Synthesis of an RNA Transcript RNA Polymerase Binding and Initiation of

Transcription
 The three stages of transcription:  Promoters signal the transcription start point and
 Initiation usually extend several dozen nucleotide pairs
upstream of the start point
 Elongation
 Transcription factors mediate the binding of RNA
 Termination
polymerase and the initiation of transcription
 The completed assembly of transcription factors and
RNA polymerase II bound to a promoter is called a
transcription initiation complex
 A promoter called a TATA box is crucial in forming
the initiation complex in eukaryotes

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Figure 17.9

DNA
Promoter Nontemplate strand Elongation of the RNA Strand
5′ T A T A AAA 3′
3′ ATAT T T T 5′ 1 A eukaryotic
promoter
TATA box Start point Template
strand
 As RNA polymerase moves along the DNA, it
Transcription untwists the double helix, 10 to 20 bases at a time
factors
 Transcription progresses at a rate of 40 nucleotides
5′ 3′ per second in eukaryotes
2 Several
3′ 5′
transcription
factors bind
 A gene can be transcribed simultaneously by several
to DNA. RNA polymerases
RNA polymerase II
Transcription factors
 Nucleotides are added to the 3′ end of the
growing RNA molecule
5′ 3′ 3′ 3 Transcription
3′ 5′ 5′
initiation
RNA transcript complex
forms.
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Figure 17.10

Nontemplate
Termination of Transcription
strand of DNA
RNA nucleotides
RNA  The mechanisms of termination are different in
polymerase
bacteria and eukaryotes
C C A A
T  In bacteria, the polymerase stops transcription at the
3′ 5′
3′ end end of the terminator and the mRNA can be
U
translated without further modification
A U C C A
 In eukaryotes, RNA polymerase II transcribes the
5′ 3′
T A
G G T T
polyadenylation signal sequence; the RNA transcript
is released 10–35 nucleotides past this
5′ Direction of transcription polyadenylation sequence
Template
strand of DNA
Newly made
RNA
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Concept 17.3: Eukaryotic cells modify RNA after Alteration of mRNA Ends
transcription
 Enzymes in the eukaryotic nucleus modify pre-  Each end of a pre-mRNA molecule is modified in a
mRNA (RNA processing) before the genetic particular way
messages are dispatched to the cytoplasm  The 5′ end receives a modified nucleotide 5′ cap
 During RNA processing, both ends of the primary  The 3′ end gets a poly-A tail
transcript are altered
 These modifications share several functions
 Also, in most cases, certain interior sections of the
 They seem to facilitate the export of mRNA to the
molecule are cut out and the remaining parts spliced
cytoplasm
together
 They protect mRNA from hydrolytic enzymes
 They help ribosomes attach to the 5′ end

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Figure 17.11
Split Genes and RNA Splicing

 Most eukaryotic genes and their RNA transcripts

have long noncoding stretches of nucleotides that lie
A modified guanine 50–250 adenine between coding regions
nucleotide added to nucleotides added
the 5′ end to the 3′ end  These noncoding regions are called intervening
Region that includes Polyadenylation
protein-coding segments signal sequences, or introns
5′ 3′
G P P P AAUAAA AAA···AAA  The other regions are called exons because they
Start Stop
5′ Cap 5′ UTR codon codon 3′ UTR Poly-A tail are eventually expressed, usually translated into
amino acid sequences
 RNA splicing removes introns and joins exons,
creating an mRNA molecule with a continuous
coding sequence
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Figure 17.12

 In some cases, RNA splicing is carried out by

Pre-mRNA
5′ Cap
spliceosomes
Intron Intron 3′
Poly-A tail
 Spliceosomes consist of a variety of proteins and
1–30 31–104 105–146 several small RNAs that recognize the splice sites
Introns cut out and
exons spliced together  The RNAs of the spliceosome also catalyze the
5′ Cap mRNA
Poly-A tail
splicing reaction
1–146
5′ UTR 3′ UTR
Coding
segment

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Figure 17.13
Ribozymes
Spliceosome Small RNAs

 Ribozymes are catalytic RNA molecules that

5′
function as enzymes and can splice RNA
Pre-mRNA
 The discovery of ribozymes rendered obsolete the
Exon 1 Exon 2 belief that all biological catalysts were proteins
Intron

Spliceosome
components
mRNA
5′ Cut-out
Exon 1 Exon 2 intron

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The Functional and Evolutionary Importance

of Introns
 Three properties of RNA enable it to function as an  Not included
enzyme
 It can form a three-dimensional structure because of
its ability to base-pair with itself
 Some bases in RNA contain functional groups that
may participate in catalysis
 RNA may hydrogen-bond with other nucleic acid
molecules

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Concept 17.4: Translation is the RNA-directed Molecular Components of Translation

synthesis of a polypeptide: a closer look
 Genetic information flows from mRNA to protein  A cell translates an mRNA message into protein with
through the process of translation the help of transfer RNA (tRNA)
 tRNAs transfer amino acids to the growing
polypeptide in a ribosome
 Translation is a complex process in terms of its
biochemistry and mechanics

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Figure 17.15
The Structure and Function of Transfer RNA

Polypeptide
Amino  Each tRNA molecule enables translation of a given
acids
mRNA codon into a certain amino acid
tRNA with
amino acid  Each carries a specific amino acid on one end
attached
Ribosome  Each has an anticodon on the other end; the
anticodon base-pairs with a complementary codon on
Gly
mRNA
tRNA

Anticodon
A A A
U G G U U U G G C

5′ Codons
3′
mRNA
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 A tRNA molecule consists of a single RNA strand  Because of hydrogen bonds, tRNA actually twists
that is only about 80 nucleotides long and folds into a three-dimensional molecule
 Flattened into one plane to reveal its base pairing, a  tRNA is roughly L-shaped with the 5' and 3' ends
tRNA molecule looks like a cloverleaf both located near one end of the structure
 The protruding 3' end acts as an attachment site for
an amino acid

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Figure 17.16 Figure 17.16a

3′
A
3′ Amino acid C
Amino acid A
attachment C
attachment
C
C site A 5′
site A 5′ C G
C G Amino acid G C
G C
attachment site C G
C G 5′ U G
U G
U A 3′ U A
A U A U
U C A U U C A U
* C A C AG U
A * C U C
A G * * C A C A G U A G *
G * A * C U C
G *
G U G U * G Hydrogen
C
* *
C G A G G U G U * C G A G G
C A G G C *
U
*GA
* bonds *
U
C
*
A
G
G
G C
Hydrogen *GA
G
U
C
A bonds G
G
C
C
Hydrogen
*
* G
U A bonds
A
A C * G
* U A A G * A
A
A
G 3′ 5′ A C
Anticodon Anticodon * U
Anticodon A G
A
(a) Two-dimensional (b) Three-dimensional (c) Symbol used
structure structure in this book Anticodon
(a) Two-dimensional structure
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Figure 17.16b

Amino acid Video: Stick and Ribbon Rendering of a tRNA

attachment site
5′
3′

Hydrogen
bonds

A A G
3′ 5′
Anticodon Anticodon

(b) Three-dimensional (c) Symbol used

structure in this book
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Figure 17.17_1
Tyrosine (Tyr)
1 Amino acid (amino acid)
and tRNA
Tyrosyl-tRNA
enter active
synthetase
site.
 Accurate translation requires two steps
 First: a correct match between a tRNA and an amino Tyr-tRNA
acid, done by the enzyme aminoacyl-tRNA
synthetase
A U A
 Second: a correct match between the tRNA anticodon
and an mRNA codon Complementary
tRNA anticodon
 Flexible pairing at the third base of a codon is called
wobble and allows some tRNAs to bind to more
than one codon

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Figure 17.17_2 Figure 17.17_3

Tyrosine (Tyr) Tyrosine (Tyr)
1 Amino acid (amino acid) 1 Amino acid (amino acid)
and tRNA and tRNA
Tyrosyl-tRNA Tyrosyl-tRNA
enter active enter active
synthetase synthetase
site. site.

Tyr-tRNA Tyr-tRNA
Aminoacyl-tRNA Aminoacyl-tRNA
synthetase synthetase
A U A A U A
ATP ATP

Complementary AMP + 2 P i tRNA Complementary AMP + 2 P i tRNA

tRNA anticodon tRNA anticodon
3 Aminoacyl
2 Using ATP, Amino tRNA 2 Using ATP, Amino
synthetase acid released. synthetase acid
catalyzes catalyzes
covalent covalent
bonding. bonding.

Computer model Computer model

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Figure 17.17a
Aminoacyl-tRNA The Structure and Function of Ribosomes
synthetase

 Ribosomes facilitate specific coupling of tRNA

anticodons with mRNA codons in protein synthesis
tRNA  The two ribosomal subunits (large and small) are
made of proteins and ribosomal RNA (rRNA)
 Bacterial and eukaryotic ribosomes are somewhat
Amino similar but have significant differences
acid
 Some antibiotic drugs specifically target bacterial
ribosomes without harming eukaryotic ribosomes

Computer model
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Figure 17.18
Growing
polypeptide Exit tunnel
for growing
polypeptide

 A ribosome has three binding sites for tRNA Large

subunit
EP
 The P site holds the tRNA that carries the growing tRNA
A

polypeptide chain molecules Small

subunit

 The A site holds the tRNA that carries the next amino 5′
mRNA 3′
acid to be added to the chain (a) Computer model of functioning ribosome

 The E site is the exit site, where discharged tRNAs P site (peptidyl-tRNA Amino
end Growing polypeptide
leave the ribosome binding site)
Carboxyl Next amino acid
Exit tunnel
end to be added to
A site (aminoacyl- polypeptide chain
E site tRNA binding site)
(exit site) E P A E tRNA
Large mRNA 3′
subunit
mRNA
binding site Small Codons
5′
subunit

(b) Schematic model showing binding sites (c) Schematic model with mRNA and tRNA
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Figure 17.18a Figure 17.18b

Growing
polypeptide Exit tunnel
for growing P site (peptidyl-tRNA
polypeptide binding site)
Exit tunnel

A site (aminoacyl-
Large
E site tRNA binding site)
subunit (exit site)
E P E P A
A Large
subunit
tRNA
Small mRNA
molecules binding site Small
subunit
subunit

5′
mRNA 3′ (b) Schematic model showing binding sites

(a) Computer model of functioning ribosome

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Figure 17.18c
Building a Polypeptide
Amino end Growing polypeptide

Carboxyl  The three stages of translation:

end Next amino acid  Initiation
to be added to
polypeptide chain  Elongation
 Termination
E tRNA
mRNA  All three stages require protein “factors” that aid in
3′
the translation process
 Energy is required for some steps, too
5′ Codons

(c) Schematic model with mRNA and tRNA

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Figure 17.19
Ribosome Association and Initiation of
Translation
 The start codon (AUG) signals the start of translation
3′ U A C 5′ Large
P site
 First, a small ribosomal subunit binds with mRNA 5′ A U G 3′ ribosomal
subunit
and a special initiator tRNA Pi
+
Initiator tRNA GTP GDP
 Then the small subunit moves along the mRNA until E A
mRNA
it reaches the start codon 5′ 5′
3′ 3′
 Proteins called initiation factors bring in the large Start codon
Small
ribosomal
subunit that completes the translation initiation mRNA binding site subunit Translation initiation complex
complex
1 Small ribosomal subunit binds 2 Large ribosomal subunit
to mRNA. completes the initiation complex.

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Elongation of the Polypeptide Chain

 During elongation, amino acids are added one  Translation proceeds along the mRNA in a
by one to the C-terminus of the growing chain 5′ → 3′ direction
 Each addition involves proteins called elongation  The ribosome and mRNA move relative to each
factors other, codon by codon
 Elongation occurs in three steps: codon recognition,  The elongation cycles takes less than a tenth of a
peptide bond formation, and translocation second in bacteria
 Energy expenditure occurs in the first and third steps

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Figure 17.20_1 Figure 17.20_2

Carboxyl end of Carboxyl end of
polypeptide polypeptide
Amino end Amino end
of polypeptide of polypeptide
1 Codon recognition 1 Codon recognition
E 3′ E 3′
mRNA mRNA
P A P A
5′ site site 5′ site site
GTP GTP
GDP + P i GDP + P i

E E

P A P A

2 Peptide bond
formation

P A

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Figure 17.20_3
Carboxyl end of
polypeptide
Termination of Translation
Amino end
of polypeptide
1 Codon recognition
E 3′  Elongation continues until a stop codon in the mRNA
Ribosome ready for
mRNA
P A reaches the A site of the ribosome
next aminoacyl tRNA 5′ site site
GTP  The A site accepts a protein called a release factor
GDP + P i

 The release factor causes the addition of a water

E E
molecule instead of an amino acid
P A
 This reaction releases the polypeptide, and the
P A

GDP + P i
2 Peptide bond
translation assembly comes apart
3 Translocation GTP
formation

P A

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Figure 17.21_1 Figure 17.21_2

Release Release
Free
factor factor
polypeptide

3′ 3′ 3′

5′ 5′ 5′

Stop codon Stop codon

(UAG, UAA, or UGA) (UAG, UAA, or UGA)
1 Ribosome reaches a stop 1 Ribosome reaches a stop 2 Release factor promotes
codon on mRNA. codon on mRNA. hydrolysis.

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Figure 17.21_3
Completing and Targeting the Functional
Protein
 Often translation is not sufficient to make a functional
Release
Free
protein
factor
polypeptide
 Polypeptide chains are modified after translation or
3′ 3′
5′ targeted to specific sites in the cell
3′
5′ 5′ 2 GTP

2 GDP + 2 P i
Stop codon
(UAG, UAA, or UGA)
1 Ribosome reaches a stop 2 Release factor promotes 3 Ribosomal subunits
codon on mRNA. hydrolysis. and other components
dissociate.

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Protein Folding and Post-Translational Targeting Polypeptides to Specific Locations

Modifications
 During its synthesis, a polypeptide chain begins to  Two populations of ribosomes are evident in cells:
coil and fold spontaneously into a specific shape—a free ribosomes (in the cytosol) and bound ribosomes
three-dimensional molecule with secondary and (attached to the ER)
tertiary structure  Free ribosomes mostly synthesize proteins that
 A gene determines primary structure, and primary function in the cytosol
structure in turn determines shape  Bound ribosomes make proteins of the
 Post-translational modifications may be required endomembrane system and proteins that are
before the protein can begin doing its particular job secreted from the cell
in the cell  Ribosomes are identical and can switch from free to
bound

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 Polypeptide synthesis always begins in the cytosol  A signal-recognition particle (SRP) binds to the
 Synthesis finishes in the cytosol unless the signal peptide
polypeptide signals the ribosome to attach to the ER  The SRP escorts the ribosome to a receptor protein
 Polypeptides destined for the ER or for secretion are built into the ER membrane
marked by a signal peptide

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Figure 17.22
Making Multiple Polypeptides in Bacteria and
1 2 3 4 5 6
Polypeptide SRP SRP SRP Signal- Completed
Eukaryotes
synthesis binds to binds to detaches cleaving polypeptide
begins. signal receptor and enzyme cuts folds into  Multiple ribosomes can translate a single mRNA
peptide. protein. polypeptide off signal final
synthesis peptide. conformation. simultaneously, forming a polyribosome (or
resumes.
polysome)
Ribosome
mRNA  Polyribosomes enable a cell to make many copies of
a polypeptide very quickly
Signal ER
peptide membrane
SRP Signal
peptide Protein
removed
CYTOSOL SRP receptor
protein
ER LUMEN
Translocation complex

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Figure 17.23 Figure 17.23a

Growing
polypeptides
Completed
Incoming polypeptide
ribosomal
subunits

Start of End of
mRNA mRNA Ribosomes
(5′ end) (3′ end) mRNA
(a) Several ribosomes simultaneously translating
one mRNA molecule

Ribosomes
0.1 µm
mRNA
(b) A large polyribosome in a bacterial cell (TEM)

0.1 µm
(b) A large polyribosome in a bacterial cell (TEM)
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Figure 17.24

RNA polymerase

 A bacterial cell ensures a streamlined process by DNA

mRNA
coupling transcription and translation
Polyribosome
 In this case the newly made protein can quickly 0.25 µm

diffuse to its site of function RNA Direction of

polymerase transcription
DNA

Polyribosome
Polypeptide
(amino end)
Ribosome

mRNA (5′ end)

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Figure 17.24a

 In eukaryotes, the nuclear envelope separates the

processes of transcription and translation
RNA polymerase  RNA undergoes processing before leaving the
nucleus
DNA
mRNA

Polyribosome
0.25 µm

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Figure 17.25 Figure 17.25a

DNA
TRANSCRIPTION
DNA
3′ TRANSCRIPTION
RNA
5′ RNA
polymerase
3′
transcript
RNA PROCESSING Exon
RNA transcript 5′
(pre-mRNA) RNA
Intron RNA polymerase
Aminoacyl-tRNA
transcript
NUCLEUS
synthetase
Exon
Amino RNA RNA transcript
AMINO ACID
CYTOPLASM
acid
ACTIVATION PROCESSING (pre-mRNA)
tRNA
Intron Aminoacyl-tRNA
mRNA
synthetase
5′ Cap 3′ NUCLEUS
A
P Aminoacyl
E
Ribosomal (charged) Amino
subunits tRNA
acid AMINO ACID
CYTOPLASM ACTIVATION
5′ Cap tRNA
TRANSLATION
E A
mRNA
AAA Anticodon
UGGUU UAU G
5′ Cap Aminoacyl
Codon
Ribosome
(charged) tRNA

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Figure 17.25b
Concept 17.5: Mutations of one or a few
nucleotides can affect protein structure and
mRNA Growing
polypeptide
function
5′ Cap 3′
A
Aminoacyl  Mutations are changes in the genetic information of
E P
Ribosomal
subunits
(charged)
tRNA
a cell
 Point mutations are changes in just one nucleotide
5′ Cap
pair of a gene
TRANSLATION
E A
 The change of a single nucleotide in a DNA template
Anticodon
A A A
U G G U U U A U G
strand can lead to the production of an abnormal
Codon protein
Ribosome

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Figure 17.26

 If a mutation has an adverse effect on the phenotype Wild-type β-globin Sickle-cell β-globin

of the organism, the condition is referred to as a

Wild-type β-globin DNA Mutant β-globin DNA
genetic disorder or hereditary disease 3′ C T C 5′ 3′ C A C 5′
5′ G A G 3′ 5′ G T G 3′

mRNA mRNA
5′ G A G 3′ 5′ G U G 3′

Normal hemoglobin Sickle-cell hemoglobin

Glu Val

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Types of Small-Scale Mutations Substitutions

 Point mutations within a gene can be divided into  A nucleotide-pair substitution replaces one
two general categories: nucleotide and its partner with another pair of
nucleotides
 Single nucleotide-pair substitutions
 Silent mutations have no effect on the amino acid
produced by a codon because of redundancy in the
 Nucleotide-pair insertions or deletions genetic code
 Missense mutations still code for an amino acid, but
not the correct amino acid
 Nonsense mutations change an amino acid codon
into a stop codon; most lead to a nonfunctional protein
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Figure 17.27a
Insertions and Deletions
Wild type
DNA template strand 3′ T A C T T C A A A C C G A T T 5′  Insertions and deletions are additions or losses of
5′ A T G A A G T T T G G C T A A 3′
nucleotide pairs in a gene
mRNA 5′ A U G A A G U U U G G C U A A 3′
Protein Met Lys Phe Gly
Stop  These mutations have a disastrous effect on the
Amino end resulting protein more often than substitutions do
Carboxyl end

Nucleotide-pair substitution: silent  Insertion or deletion of nucleotides may alter the

A instead of G reading frame, producing a frameshift mutation
3′ T A C T T C A A A C C A A T T 5′
5′ A T G A A G T T T G G T T A A 3′
U instead of C
5′ A U G A A G U U U G G U U A A 3′
Met Lys Phe Gly
Stop

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Figure 17.27b
New Mutations and Mutagens
Wild type
DNA template strand 3′ T A C T T C A A A C C G A T T 5′  Spontaneous mutations can occur during errors in
5′ A T G A A G T T T G G C T A A 3′
DNA replication, recombination, or repair
mRNA 5′ A U G A A G U U U G G C U A A 3′
Protein Met Lys Phe Gly
Stop  Mutagens are physical or chemical agents that can
Amino end cause mutations
Carboxyl end

Nucleotide-pair substitution: missense  Chemical mutagens fall into a variety of categories

T instead of C
 Most carcinogens (cancer-causing chemicals) are
3′ T A C T T C A A A T C G A T T 5′
5′ A T G A A G T T T A G C T A A 3′ mutagens, and most mutagens are carcinogenic
A instead of G
5′ A U G A A G U U U A G C U A A 3′
Met Lys Phe Ser
Stop

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 12/7/2020

What Is a Gene? Revisiting the Question

 The idea of the gene has evolved through the history  A gene can be defined as a region of DNA that can
of genetics be expressed to produce a final functional product
 We have considered a gene as that is either a polypeptide or an RNA molecule
 a discrete unit of inheritance
 a region of specific nucleotide sequence in
a chromosome
 a DNA sequence that codes for a specific polypeptide
chain

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Figure 17.27 Figure 17.27c

Wild type
DNA template strand 3′ T A C T T C A A A C C G A T T 5′
5′ A T G A A G T T T G G C T A A 3′
mRNA 5′ A U G A A G U U U G G C U A A 3′ Wild type
Protein Met Lys Phe Gly
Stop
Amino end T A C T T C A A A C C G A T T 5′
Carboxyl end DNA template strand 3′
(a) Nucleotide-pair substitution (b) Nucleotide-pair insertion or deletion 5′ A T G A A G T T T G G C T A A 3′
A instead of G Extra A
3′ T A C T T C A A A C C A A T T 5′ 3′ T A C A T T C A A A C C G A T T 5′
mRNA 5′ A U G A A G U U U G G C U A A 3′
5′ A T G A A G T T T G G T T A A 3′ 5′ A T G T A A G T T T G G C T A A 3′
Extra U
Protein Met Lys Phe Gly
Stop
U instead of C
5′ A U G A A G U U U G G U U A A 3′ 5′ A U G U A A G U U U G G C U A A 3′ Amino end
Met Lys Phe Gly Met
Stop
Carboxyl end
Stop
Silent Frameshift (1 nucleotide-pair insertion)
T instead of C A missing Nucleotide-pair substitution: nonsense
3′ T A C T T C A A A T C G A T T 5′ 3′ T A C T T C A A C C G A T T 5′
5′ A T G A A G T T T A G C T A A 3′ 5′ A T G A A G T T G G C T A A 3′ A instead of T
A instead of G U missing
5′ A U G A A G U U U A G C U A A 3′ 5′ A U G A A G U U G G C U A A 3′
3′ T A C A T C A A A C C G A T T 5′
Met Lys Phe Ser
Stop Met Lys Leu Ala 5′ A T G T A G T T T G G C T A A 3′
Missense Frameshift (1 nucleotide-pair deletion)
U instead of A
A instead of T T T C missing
3′ T A C A T C A A A C C G A T T 5′ 3′ T A C A A A C C G A T T 5′
5′ A U G U A G U U U G G U U A A 3′
5′ A T G T A G T T T G G C T A A 3′ 5′ A T G T T T G G C T A A 3′
Met
U instead of A A A G missing Stop
5′ A U G U A G U U U G G U U A A 3′ 5′ A U G U U U G G C U A A 3′
Met Met Phe Gly
Stop Stop
Nonsense 3 nucleotide-pair deletion
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 12/7/2020

Figure 17.27d Figure 17.27e

Wild type Wild type

DNA template strand 3′ T A C T T C A A A C C G A T T 5′ DNA template strand 3′ T A C T T C A A A C C G A T T 5′
5′ A T G A A G T T T G G C T A A 3′ 5′ A T G A A G T T T G G C T A A 3′
mRNA 5′ A U G A A G U U U G G C U A A 3′ mRNA 5′ A U G A A G U U U G G C U A A 3′
Protein Met Lys Phe Gly
Stop Protein Met Lys Phe Gly
Stop
Amino end Amino end
Carboxyl end Carboxyl end
Nucleotide-pair insertion: frameshift causing immediate nonsense Nucleotide-pair deletion: frameshift causing extensive missense
Extra A A missing
3′ T A C A T T C A A A C C G A T T 5′ 3′ T A C T T C A A C C G A T T 5′
5′ A T G T A A G T T T G G C T A A 3′ 5′ A T G A A G T T G G C T A A 3′
Extra U U missing
5′ A U G U A A G U U U G G U U A A 3′ 5′ A U G A A G U U G G G U A A 3′
Met Lys
Stop Met Leu Ala

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Figure 17.27f

Wild type
DNA template strand 3′ T A C T T C A A A C C G A T T 5′
5′ A T G A A G T T T G G C T A A 3′
mRNA 5′ A U G A A G U U U G G C U A A 3′
Protein Met Lys Phe Gly
Stop
Amino end
Carboxyl end
3 nucleotide-pair deletion: no frameshift, but one amino acid missing
T T C missing
3′ T A C A A A C C G A T T 5′
5′ A T G T T T G G C T A A 3′
A A G missing
5′ A U G U U U G G G U A A 3′
Met Phe Gly
Stop

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