BISSMILLAH AHRAHMAN AR-

RAHEEM.
NUCLEIC ACIDS :
 Introduction:
 Frederic Miesher in 1869, isolated an acidic
compound from the nuclear material of
SALMON sperms, and named it as
NUCLIEN which is now called NUCLEIC
ACID.
 Jones in 1920 proved the fact there are two
types of nucleic acids, i.e., Deoxy ribo
nucleic acid (DNA) and Ribonucleic acid
(RNA).
 In 1935 J. D. Watson and F. H. C Crick, on the
basis of information's available not only
proposed the “Double helical” structure of
DNA but also suggested what Crick
termed “central dogma of molecular
genetics”, which states that genetic
information flows from DNA to RNA to
 The Double Helix (1953)

Public Domain image

© Dr Kalju Kahn USBC Chemistry and Biochemistry
 Central Dogma


 DNA  RNA  amino acids 

proteins
 CENTRAL DOGME :
1. 1.Replication:The copying of the DNA to
form identical daughter molecules.
2. 2. Transcription :The process by which
the genetic message in DNA is
transcribed in the form of m RNA
to be carried to the ribosome
 3.Translation: The process by
which the message is decode by the
ribosome's, where m RNA is used as
a template in directing the specific
amino acids sequence during protein
biosynthesis.

Nucleic acids
 Two types;
 DNA
 RNA
 The building
blocks of
nucleic acids
are called
NUCLEOTIDES
 Nucleic Acids

 Chemical Composition



 Elements: C, H, O, N, and P.



 There are 2 types of nucleic acids,
deoxyribonucleic acid (DNA) and
ribonucleic acid (RNA).
 Nucleotide
 Nucleotides : monomers of nucleic
acids .
 All nucleic acids consist of many
nucleotides bonded together.
 Nucleic acids are polynucleotide.
 Their building blocks are nucleotides


 Monomers

 nucleotides, are made up of three parts:

 (a) Phosphate (phosphoric acid)
 (b) N-base (Nitrogenous base)
 (c) Sugar ~ ribose or deoxyribose
 NUCLEOTIDE STRUCTURE

PHOSPATE SUGAR BASE

Ribose or PURINES PYRIMIDINES
Deoxyribose
Adenine (A) Cytocine (C)
Guanine(G) Thymine (T)
Uracil (U)

NUCLEOTIDE
© 2007 Paul Billiet ODWS
 RIBOSE DEOXYRIBOSE

CH2OH CH2OH
O OH O OH

C C C C

H H H H H H H H

C C C C

OH OH OH H
© 2007 Paul Billiet ODWS
 BASES
 Purines: adenine, guanine (double ring)
 Pyrimidine: thymine, cytosine (single
rings)

 Purines & Pyrimidines

Adenine Thymine

Guanine Cytosine

© 2007 Paul Billiet ODWS

The bases always pair up in the same way
A purine with a pyrimidine

Adenine forms a bond with Thymine

Adenine Thymine

and Cytosine bonds with Guanine

Cytosine Guanine
 DNA Structure
 Sugar= Deoxyribose
 Specific Base Pairing
 Adenine-Thymine
 Guanine-Cytosine
 Forms a double Helix Structure
 RNA structure
 Sugar= Ribose
 Thymine gets
replaced by
Uracil
 Single stranded
 Structural (and functional)
Comparison of DNA & RNA

DNA RNA

Structure/s Double helix Linear,

hape
# of or
2 single
1 strand
Sugar
strands α-helix
Deoxyribose Ribose
N-bases A, T, G, C A, U, G, C
 Functions
 DNA is used to store genetic information
 It is replicated before cell division
 DNA is very important so it is stored in
the nucleus.
 It never leaves the nucleus
 Your DNA stores the code for your
proteins, which exhibit your “traits”
 The DNA gets converted to RNA in order
to move out into the cytoplasm

 Functions
 In the cytoplasm it meets up with the
ribosome, where it can synthesize
proteins
 Stores genetic information.
 Maintains growth and repair.


 Controls all cellular activities.



 Contains protein codes.



 Ensures each daughter cell & gamete

receives exact genetic information.

 1.GENE SEQUENCING TECHNIQUE (Gel
Electrophoresis)
 2. GENETICALLY ENGINEERED PRODUCTS
 Insulin for diabetes
 Factor IX for curing hemophilia B
 -Macrophage colony-stimulating factor (GM-
CSFGRANULOCYTE) for stimulating the bone
marrow after a bone marrow transplant
 Tissue plasminogen activator (TPA) for dissolving
blood clots
 Angiostatin and Endostatin for trials as anti-cancer
drugs.
 3. HUMAN GENOME PROJECT
 4. GENE THERAPY particularly AMNIOCENTESIS
AND MUCH MORE!!!
NUCLEIC ACIDS (DNA)
 Nucleic Acid:

 Nucleic acids are non-prorein nirogeneous

bases made up of Monomeric units
called nucleotides.
 These are molecules through which
organisms are described through their
continuation.
 TYPES OF NUCLEIC ACIDS:
 DNA
 RNA
 DNA :
 Abbreviation of deoxyribonucleic acid.
 It is a polymer of Deoxyribo nucleotide.
 This thread like structure is a combination
of large number of nucleotide units
joined together.
 This Polynucleotide contains genetic
information that gives rise to chemical
and physical properties of organisms.

 Location and Isolation:
 LOCATION:
 It can be found in chromosomes
(specifically nucleus), mitochondria and
chloroplast of the cell.
 It is present in every living organism
because it contains genetic material.
 ISOLATION:
 From viruses, bacteria, thymus gland,
spleen, blood, hair, skin, etc
 Size of DNA:
 Size shows great variation.
 Only 1.7µm long in simple structure of
simian virus with 5 or 6 genes. and can
also extend to 2M in Human DNA.
 The size of human DNA inside the
chromosome is just 200 nm.
Structure of DNA:
DNA is a very large molecule made up
of a long chain of sub-units

The sub-units are called nucleotides

Each nucleotide is made up of

a pentose sugar called deoxyribose

a phosphate group -PO4 and

Nitrogenous bases
 Deoxyribose
Deoxyribose is


almost the same

as RNA but lacks
one oxygen atom

 Phosphate Group :
 Negatively charged Phosphate group is
present to whole positively charged
protein molecule.
O

O P O

O
 Structure of the DNA-
continued
 c. Nitrogenous base: There are four
different bases which are divided into
two groups.
 i) Pyrimidines: These are single rings
each with six sides. They are Cytosine
and Thymine .
 ii) Purines: These are double rings
comprising a six-sided and a five-sided
ring. They are Adenine and Guanine.
 Adenine always pairs with
 Thymine, with the help of
 two hydrogen bonds
 and Guanine always pairs with
 Cytosine with the help of
 three hydrogen bonds.
 This makes the two chains complimentary
to each other.

The bases
The most common organic bases are

Adenine (A)

Thymine (T)

Cytosine (C)

Guanine (G)
Nucleotides

The deoxyribose, the phosphate and one of the bases

Combine to form a nucleotide

PO4

adenine

deoxyribose
Joined nucleotides
A molecule of DNA (polymer) is
PO4 formed by millions of nucleotides
joined together by phospodiester
bonds into a long chain by
condensation reactions.
PO4

PO4

PO4

sugar-phosphate + bases
backbone
In fact, the DNA usually consists of a double
strand of nucleotides

The sugar-phosphate chains are on the outside

and the strands are held together by hydrogen bonds
between the bases
2-stranded DNA
PO4
PO4

PO4
PO4

PO4 PO4

PO4
PO4

PO4
PO4

PO4
PO4

PO4
PO4

PO4
PO4
Bonding 1

The bases always pair up in the same way

A purine with a pyrimidine

Adenine forms a bond with Thymine

Adenine Thymine

and Cytosine bonds with Guanine

Cytosine Guanine
Bonding 2

PO4
PO4
adenine thymine

PO4
PO4
cytosine guanine

PO4
PO4

PO4
PO4
Pairing up
PO4
PO4

PO4
PO4

PO4 PO4

PO4
PO4

PO4
PO4

PO4
PO4

PO4
PO4

PO4
PO4
The paired strands are coiled into a spiral called
A DOUBLE HELIX
THE DOUBLE
HELIX
bases

sugar-phosphate
chain
 Types of DNA :
 Two types;
 Circular DNA
 Non-Circular DNA
 CIRCULAR DNA :
 In Eukaryotes: The ends of DNA are
cohesive,so they join forming a circular
DNA.eg.mitochondria,chloroplast,tec.
 In Prokaryotes: mostly it is in the form of
PLASMID whose replication donot
depends on genomic DNA.eg.bacteria.
 NON-CIRCULAR DNA:
 The two anti parallel strands of DNA twist
around each other to form helical
structure of double helix.
 FUNCTIONS OF DNA
DNA has 2 major functions:


1. Replication in dividing cells, allowing



accurate copying of DNA for cell division.



2. Carrying the information for protein



synthesis in all cells.

REPLICATON OF DNA:
 Steps of DNA Replication
1) DNA must unwind and break the hydrogen
bonds
2) Each strand is used as a template

(blueprint)
3) Two new strands of DNA are formed from

the original strand by the enzyme DNA

Polymerase
 During replication, an enzyme called
helicase “unzips” the DNA molecule along
the base pairing, straight down the
middle.
 Another enzyme, called DNA polymerase,

moves along the bases on each of the

unzipped halves and connects
complementary nucleotides.
 What do we mean by complementary
nucleotides?
 Original strand
New strand DNA polymerase

DNA polymerase
Growth

Growth

Nitrogenous bases
Replication fork Replication fork

New strand
Original strand
 Because of Chargaff’s rule, only the correct,
complementary bases will fit, so chances are good
that the DNA polymerase will make a perfect copy.
 Mistakes happen! Mutation!









 Is this frog likely to survive long in the wild?

 Transcription- how RNA is
made
 Just as DNA polymerase makes new DNA, a similar enzyme
called RNA polymerase makes new RNA.

 RNA polymerase temporarily separates the strands of a small
section of the DNA molecule.
 This exposes some of the bases of the DNA molecule.

 Along onestrand, the RNA polymerase binds complementary
RNA nucleotides to the exposed DNA bases.
 An exposed thymine on the DNA strand hooks up with an
RNA nucleotide with an adenine; an exposed cytosine
on the DNA hooks up with an RNA nucleotide with a
guanine base; an exposed adenine DNA base will hook
up with URACIL!
 As the RNA polymerase moves along, it makes a strand of
messenger RNA (mRNA).
 It is called messenger RNA because it carries DNA’s
message out of the nucleus and into the cytoplasm.
 mRNA is SINGLE STRANDED!
 When the RNA polymerase is done reading the gene in the
DNA, it leaves.
 The separated DNA strands reconnect, ready to be read again
when necessary.
 mRNA moves out of the nucleus and finds a ribosome
 On the ribosome, amino acids are assembled to form proteins in
the process called translation.
HISTORY OF DNA :
Nucleotide

Hydrogen
bonds

Sugar-phosphate
backbone
Key
Adenine (A)
Thymine (T)
Cytosine (C)
Guanine (G)
 Griffith’s Experiment
 Was trying to develop a vaccination for
the pneumococcus bacteria. 
 Vaccine- a prepared substance from
killed or weakened disease causing
agents used to prevent future
infections
 He was working with two strains of
bacteria. 
 Rough - bacteria had a rough
appearance in culture, non-virulent
(doesn't kill)
 Smooth - bacteria had a  smooth
appearance in culture, virulent (kills)

 Heat-killed, disease-
causing bacteria
(smooth colonies)

Heat-killed, disease-
Disease-causing Harmless bacteria causing bacteria
bacteria (smooth (rough colonies (smooth colonies) Control Harmless bacteria
colonies)
(no growth) (rough colonies)

Lives
Dies of pneumonia Lives Dies of pneumonia
Live, disease-causing
bacteria (smooth colonies)
 DNA as hereditary material
 The Genetic Material is DNA – Alfred
Hershey and Martha Chase, 1952
 Previously, scientists thought that proteins

were the hereditary molecule

 Hershey and Chase worked with viruses that

infect bacteria called bacteriophages

 Through a series of experiments, they were
able to show that DNA, not protein, is the
hereditary molecule.

Martha Chase ( left ) & Alfred
Hershey ( right )
Virus Structure

DNA is located
in the head.

The outside and tail

of the virus is
made out of
protein.
Virus ATTACKS!!
Bacteriophages ATTACK!!
 Hershey – Chase
Experiment – DNA in
Viruses

Phage infects Radioactivity inside

bacterium bacterium
Bacteriophage with
phosphorus-32 in
DNA

Phage infects
Bacteriophage with bacterium No radioactivity inside
sulfur-35 in protein bacterium
coat
 Hershey & Chase
Experiment
 Concluded that the DNA of viruses is
injected into the bacterial cells, while
the viral proteins remain outside
 The injected DNA molecules cause the
bacterial cells to produce more viruses
 DNA is the hereditary material – not
proteins.
 Wilkins and Rosalind
Franklin
 M.H.F. Wilkins and Rosalind Franklin,
early 50’s
 Wilkins and Franklin studied the structure of
DNA crystals using X-rays.
 They found that the crystals contain
regularly repeating subunits.
 The X pattern produced by DNA suggested
that DNA contains structures with
dimensions of 2 nm, 0.34 nm, and 3.4 nm.
The dark structures at the top and bottom
indicate that some structure was
repeated, suggesting a helix.

Rosalind Franklin
X-ray diffraction image of DNA
 Watson and Crick
 James Watson and Francis H.C. Crick,
1953
 Watson and Crick used Chargaff's base data
and Franklin’s X-ray diffraction data to
construct a model of DNA.
 The model showed that DNA is a double helix
with sugar-phosphate backbones on the
outside and the paired nucleotide bases on
the inside, in a structure that fit the spacing
estimates from the X-ray diffraction data.
 Chargaff's rules showed that A = T and G = C,
so there was complementary base pairing of
a purine with a pyrimidine, giving the correct
width for the helix.
 The paired bases can occur in any order, giving
an overwhelming diversity of sequences.

Watson & Crick with their model of DNA
 Chargaff’s rules:
 Base pairing rule is A-T and G-C
 Thymine is replaced by Uracil in RNA
 Bases are bonded to each other by
Hydrogen bonds
 Discovered because of the relative
percent of each base; (notice that A-T is
similar and C-G are similar)
Erwin Chargaff
Backbone alternates
with phosphate and
sugar (deoxyribose)
with the nucleotides
formingthe rungs or
steps of the ladder
 The backbone of it all…
TEMPLATE STRAND

 A C G G T A
T G C C A T

The backbone is made of alternating

sugars and phosphates.
- Remember: Sugar ALWAYS attaches to
the Nitrogen base
 So Remember:


DNA 
 Chromatin 
Chromosomes
 Nucleosome
Chromosome
DNA
double
helix
Coils

Supercoils

Histones
 FUNCTIONS OF DNA :
-Stores genetic information.
-Maintains growth and repair.

-Controls all cellular activities.

-Contains protein codes.

-Ensures each daughter cell & gamete receives exact

genetic information.
RIBONUCLEIC ACID
 INTRODUCTION :
 Ribonucleic acid usually called as RNA,
is a biologically important type of
molecule that consists of a long chain
of nucleotide units.


 It is a single stranded chain of nucleotides

that contains genetic information and it
functions for the synthesis of proteins
and also to transfer genetic information
from one generation to the next.

 HISTORY OF RNA :
 Nucleic acids were discovered in 1868 by
Friedrich Miescher, who called the
material 'nuclein' since it was found in
the Nucleus.

 Nuclein was shown to have acidic
properties, hence it became called
nucleic acid


 The role of RNA in protein synthesis was
suspected already in 1939.

  Severo Ochoa won the 1959 Nobel Prize in
Medicine after he discovered how RNA is
synthesized.

 Carl Woese realized RNA can be catalytic in
1967 and proposed that the earliest forms of
life relied on RNA both to carry genetic
information and to catalyze biochemical
reactions—an RNA world.


 In 1990 it was found that introduced genes can

silence homologous endogenous genes in
plants, now known to be a result of RNA
interference.

 In same year, the discovery of gene regulatory
  Found in the nucleus and
cytoplasm.
STRUCTURE OF RNA :
 Linear, single strand of
nucleotides.
 Contains the sugar,
ribose.
 N-bases include adenine,
uracil, cytosine and
guanine.
 Backbone is of ribose
sugar-phosphate.
 RNA is a large molecule made up of a
long chain of sub - units
The sub-units are called nucleotides

Each nucleotide is made up of

a pentose sugar called ribose

a phosphate group -PO4 and

a nitrogenous base

*RNA structure: single-strand

molecule
Note: Backbone consists of alternating
P-S-P-S-P- etc…
 Ribose
Ribose is a sugar,


like glucose, but

with only five
carbon atoms in its
molecule

The bases
The most common organic bases are

Adenine (A)

Uracil (U)

Cytosine (C)

Guanine (G)
Nucleotides

The deoxyribose, the phosphate and one of the bases

Combine to form a nucleotide

PO4

adenine

ribose
Joined nucleotides
A molecule of RNA is formed
PO4 by millions of nucleotides
joined together into a long
chain .

PO4

PO4

PO4

sugar-phosphate + bases
backbone
REPLACEMENT OF URACIL
 The base
thymine is
replaced by
 Uracil
(pyrimidine) in
RNA.

 Uracil bonds
with adenine.

Types of RNA :
Ø There are three types of RNA in a cell.
Ø Ribosomal RNA (rRNA)
Ø Messenger RNA (mRNA)
Ø Transfer RNA ( tRNA)
Ø
 Their main function is to make proteins after taking
instructions from the DNA.
 They are temporarily present in the cell.
Ø
Ø
 RNA

can be

Messenger RNA Ribosomal RNA Transfer RNA

also called which functions to also called which functions to also called

Bring
Combine
mRNA Carry instructions rRNA tRNA amino acids to
with proteins
ribosome

from to to make up

DNA Ribosome Ribosomes

 Messenger RNA :

 Also known as mRNA.

 Messenger RNA is a single long chain of
nucleotides
 It is a molecule of RNA encoding a chemical
"blueprint" for a protein product.
 mRNA istranscribed from a DNA template, and
carries coding information to the sites of 
protein synthesis: the ribosomes.
 WORKING OF MRNA :
  In mRNA as in DNA, genetic information is
encoded in the sequence of nucleotides arranged
into codons consisting of three bases each.
 Each codon encodes for a specific amino acid,
except the stop codons that terminate protein
synthesis.
 RIBOSOMAL RNA :
 It is also known as rRna.


 Ribosomal RNA is the central

component of the ribosome, the protein
manufacturing machinery of all
living cells.
 Ribosomal RNA - continued


 Ribosomal RNA has two units,

 one large and
 the other small.

Ribosomal RNA . Large subunit

(rRNA)
Small subunit
 The function of the rRNA is to provide a mechanism
for decoding mRNA into amino acids and to
interact with the tRNAs during translation.


 The tRNA then brings the necessary amino acids

corresponding to the appropriate mRNA codon.

 Working
 mRNA is sandwiched between the small and large
subunits and the ribosome catalyzes the formation
of a peptide bond between the 2 amino acids that
are contained in the rRNA.
 The ribosome also has 3 binding sites called A, P,
and E.
 TheA site in the ribosome binds to an aminoacyl-
tRNA (a tRNA bound to an amino acid).
 The amino (NH2) group of the aminoacyl-
tRNA, which contains the new amino acid,
attacks the ester linkage of peptidyl-tRNA
(contained within the P site), which
contains the last amino acid of the
growing chain, forming a new peptide
bond.
 The tRNA that was holding on the last amino
acid is moved to the E site, and what used
to be the aminoacyl-tRNA is now the
peptidyl-tRNA.
 A single mRNA can be translated
simultaneously by multiple ribosomes.
 TRANSFER RNA :
 Transfer RNA (abbreviated tRNA) is a
small RNA molecule (usually about 74-
95 nucleotides) that transfers a specific
active amino acid to a growing
polypeptide chain at the ribosomal site
of protein synthesis during translation.
 act as adapter between nucleotides
codons and amino acids. They pick up
free amino acids in cytoplasm and
carry them into the ribosomes where
polypeptide chain is elongated.
 Transfer RNA
 Each tRNA carries an amino
acid
 As each codon of the mRNA
molecule moves through
the ribosome, the
corresponding amino acid
is brought into the
ribosome by the tRNA.
 Each tRNA molecule has
three unpaired bases
(anticodons)which are
complimentary to mRNA
codons
 There are 20 different tRNAs, for the
different aminoacids.

 Differences between DNA and
RNA
RNA


DNA



 Structure:  Structure:
 Double stranded  Single-stranded
 Sugar: Deoxyribose  Sugar: Ribose
Bases: Bases:

 Adenine  Adenine

 Guanine  Guanine

 Cytosine  Cytosine

 Thymine  Uracil
Translation- the Ultimate
Goal!
Going from mRNA to the final product
Why are proteins needed?
 Immune system
 Muscles move bones
 Cell membranes
 Enzymes
 For repair of broken cells
 Growth of organisms
 Decoding the Information in
DNA
 How does DNA (a twisted latter of atoms)
control everything in a cell and
ultimately an organism?
 DNA controls the manufacture of all cellular
proteins including enzymes
 A gene is a region of DNA that contains the
instructions for the manufacture of on
particular polypeptide chain (chain of
amino acids)
 DNA is a set of blueprints
 or code from making proteins
 How do you get from
DNA to Proteins?

TRANSCRIPTION – the synthesis of RNA under the direction of DNA

TRANSLATION – the actual synthesis of a protein,

which occurs under the direction of mRNA
 Where does this happen?
 Where is the DNA?


 Protein synthesis –
the manufacture of
proteins


Where are
proteins made in
the cell?
Translation : Protein Synthesis
 mRNA combines with a ribosome and
tRNA and makes a protein


 Remember:
 mRNA carries the codon (three base
sequence that codes for an amino acid)
 tRNA carries the anticodon which pairs up
with the codon
 tRNA brings the correct amino acid by
reading the genetic code
 tRNA ( transfer RNA )
 tRNA carries (or transfers) the correct
amino acid to the codon on the
mRNA.
 tRNA has an ANTICODON that can
attach to mRNA’s codon.
 Translation

m RN

A GUA UCU GUU ACC GUA

•m RNA c a rrie s t h e s a m e m e s s a g e a s
DNA b u t re writ t e n wit h d iffe re n t
n it ro g e n b a s e s .
•Th is m e s s a g e c o d e s fo r a s p e c ific
s e q u e n c e o f a m in o a c id s
•Re vie w..Am in o a c id s a re t h e b u ild in g
b lo c ks o f…
•PROTEINS
 Translation

m RN

A GUA UCU GUU ACC GUA

•Co d o n : a s e q u e n c e o f 3 n it ro g e n
b a s e s o n m RNA t h a t c o d e fo r 1 a m in o
a c id
•It ’s a TRIPLET c o d e
•Exa m p le : Th is s t ra n d o f m RNA h a s 5
c o d o n s , s o it wo u ld c o d e fo r 5 a m in o
a c id s .
 Translation

m RN

A GUA UCU GUU ACC GUA

•Th e s e c o d o n s a re u n ive rs a l fo r e ve ry
b a c t e ria , p la n t a n d a n im a l o n e a rt h

•Th e re a re 6 4 c o d o n s wh ic h c o d e fo r
a ll 2 0 a m in o a c id s o n e a rt h .
 Translation

m RN A
 GUA UCU GUU ACC GUA

Ribosome

•Th e m RNA m o le c u le t ra ve ls t o t h e
rib o s o m e s wh e re t h e m RNA c o d e s a re
“re a d ” b y t h e rib o s o m e s
•Rib o s o m e s h o ld t h e m RNA s o a n o t h e r
t yp e o f RNA, t ra n s fe r RNA (t RNA) c a n
a t t a c h t o t h e m RNA
 Translation

m RN

A GUA UCU GUU ACC GUA
CA U A G ARibosome
 Translation

m RN A
 GUA UCU GUU ACC GUA
CA U A G A CA A
 Codons
match up
with
anticodons
to create a
protein
 Protein formation
 Amino acids link
together to
form a protein
 The new protein
could become
cell part, an
enzyme, a
hormone etc.
 SO:
 Say the mRNA strand reads:
 mRNA (codon) AUG–GAC–CAG-UGA
 tRNA (anticodon) UAC-CUG-GUC-ACU

 tRNA would bring the amino acids:
 Methionine-Aspartic acid-Glutamine-stop
 1)mRNA is transcribed in the
nucleus and leaves the nucleus to
the cytoplasm


2) mRNA attaches to the ribosome

3)The codon on the mRNA is read

by the anticodon on the tRNA

4) tRNA brings the amino acid as it

reads mRNA
5) The amino acids are joined

together to form a polypeptide

(protein)
6) When a stop codon is reached

(UAA, UAG, UGA) protein

synthesis stops
What if things go wrong?
 MUTATION!!!
 If transcription or translation were to copy
the wrong sequence, the incorrect
amino acid could be added
 This would change the overall protein
structure and could make the protein
ineffective
 Sickle cell anemia is caused by a single
amino acid difference in the
hemoglobin protein sequence
 Gene Mutations
 Point Mutations – only occur at a single
point in the DNA sequence – only
changes a few amino acids


 Frameshift Mutations – shift the entire

“reading frame” – change ALL the
amino acids
 Mutations
 Substitution – one base replaces another


 Insertion – an extra base is inserted



 Deletion – loss of a single letter (makes

entire base disappear!)
 Chromosomal Mutations
 Change in the number or structure of
chromosomes


 Ex. – Deletion, Duplication, Inversion, and

Translocation
 Deletion

Duplication

Inversion

Translocation