Heredity: Inheritance

and Variation
Science 10
 Lesson Outline

DNA and its Structure

The Protein Synthesis

Mutation
 Learning Objectives

Describe the structure of the DNA molecule;

Explain the process of DNA replication, and protein
synthesis; and,
Explain how mutations may cause changes to the
structure and function of a protein.
 THE DISCOVERY

Johann Friedrich
Miescher
Identified DNA in 1869 from white
blood cells..
Avery, MacLeod and
McCarty
In 1944, Avery, MacLeod and
McCarty showed that DNA carries
genetic information, but its structure
was still unknown.
 THE DISCOVERY

Rosalind Franklin and

Maurice Wilkins
They used X-ray diffraction
to reveal the shape of DNA in the
early 1950s.
James Watson and
Francis Crick
Used Franklin's images and other data
to propose the double helix model of
DNA in 1953.
 DNA AND ITS STRUCTURE

DNA
• Deoxyribonucleic acid
• Contains the instructions needed for
an organism to develop, live, and
reproduce.
Nucleotides
• Building blocks of nucleic acids.
• Composed of phosphate group, a sugar
group and a nitrogen base.
 NITROGENOUS BASE

• Nitrogen containing molecule that

has the same chemical properties as a
base.

Four Types of Nitrogen Bases

• Adenine (A)
• Thymine (T)
• Guanine (G)
• Cytosine (C)
 NITROGENOUS BASE

Base Pairs

Adenine (A) bonds with thymine (T).

Cytosine (C) bonds with guanine (G).

 Did You Know?
The sequence or order of the bases in a
specific DNA strand is related to the
expression of specific traits and
qualities.

For example, the sequence GTC ATT

might be responsible for curly brown
hair, while GTC AAT might be
responsible for straight black hair.
 PHOSPHATE GROUP

• Comprised of central phosphorus

attached to oxygen.
 SUGAR GROUP

• Consists of 5- carbon deoxyribose

sugars attached to the phosphate
groups.
• Backbone of DNA.

type of sugar that forms part of the DNA

molecule, the genetic material of all living thing.
 DOUBLE HELIX

• twisted-ladder structure of
deoxyribonucleic acid (DNA)
 GENOME

• A complete set of some 20, 000 to 25,

000 genes.
• Human genome contains about 3
billion bases.

CHROMOSOME

• Threadlike structures made of protein

and a single molecule of DNA that
serve to carry the genomic
information from cell to cell.
 FUNCTIONS OF DNA

Storing and transmitting hereditary information in the f

orm of gene sequences
.

Producing proteins, the regulation, metabolism, and rep

roduction of the cell
 THE PROTEIN SYNTHESIS

• Process of making proteins from the genetic

instructions in DNA.

• Consists of two processes — transcription

and translation.

• Takes place within the nucleus and

ribosomes of a cell and is regulated by DNA
and RNA.
TRANSCRIPTION
In the nucleus of eukaryotes a strand of
messenger RNA (mRNA) is synthesized by
using the genetic information found on a strand
DNA as a template. The double-stranded
molecule of DNA separates along the hydrogen
bonds. An enzyme called RNA polymerase adds
in corresponding base pairs (A-U and G-C).
TRANSLATION This process occurs in the cytoplasm where
messenger RNA (mRNA) molecule on a
ribosome is decoded to produce a sequence of
amino acids for protein synthesis. mRNA is read
by the ribosome in groups of three letters
(codons). Each 3-letter portion of mRNA
(codon) codes for a specific amino acid. These
codes match up to the anticodons on the bottom
of the tRNA molecules. The corresponding
tRNA molecule brings in the correct amino acid
(20 amino acids) (building block of proteins).
The ribosome joins the amino acids together to
make a protein.
 DECODE
some DNA "secret" messages

STEP 1: "Build" the mRNA molecule, matching the RNA nucleotides to the
DNA nucleotides properly, letter by letter. (For purposes of simplicity, it will
be assumed that this mRNA is bacterial; there are no introns to cut out!)
STEP 2: Figure out the tRNA triplets (codons) that would fit the mRNA
triplets (letter by letter).
STEP 3: Look up each tRNA codon in the tRNA Dictionary (below), and find
the corresponding symbol and amino acid abbreviation for that codon. Record
that one-letter symbol (and its amino acid) below each codon. "Spc" =
"space". If you have done this correctly, the symbols should spell out a
meaningful message in English.
Remember, C always pairs with G, G always pairs with C, A pairs with T
or T pairs with A (in DNA). In RNA, C always pairs with G, G always
pairs with C, A pairs with U or U pairs with A. Clues: C & G are curved
letters; A & T are angular; U is used in RNA in place of T.
• Ribonucleic acid (RNA)- is a nucleic acid present in all living cells
that has structural similarities to DNA.

• Messenger ribonucleic acid (mRNA)- is a type of single-stranded

RNA involved in protein synthesis.

• Transfer ribonucleic acid (tRNA)

 CODING FOR PROTEINS

• Information in DNA is
initially read and
transcribed into a
messenger molecule.

• Translated into a
language that the body
can understand.
 GENETIC CODE

Definition Majority of genes are encoded with exactly the same

code and often referred as the canonical or standard
genetic code.
Set of rules by which
information encoded in DNA
or RNA sequences is CODON
translated into amino acid • Any of 64 different sequences of three adjacent
sequences by living cells. nucleotides in DNA that either encodes information for
the production of a specific amino acid or serves as a
stop signal to terminate translation (protein synthesis).
 NITROGENOUS
NUCLEOTIDE BASIS

Aromatic Ring
Purine Bases
• adenine (A) and guanine (B)
• larger and consist of two aromatic rings

Pyrimidine Bases
• cytosine (C) and thymine (T)
• smaller and consist of only one aromatic ring.
GENETIC CODE
AMINO ACIDS

Definition

fundamental molecule that

serves as the building block
for proteins.
 DNA REPLICATION

DNA replication is the process by which the genome’s

DNA is copied in cells. Before a cell divides, it must fir
st copy (or replicate) its entire genome so that each res
ulting daughter cell ends up with its own complete gen
ome
MODELS OF DNA REPLICATION
 MODELS OF DNA
REPLICATION

Semiconservative
replication
This means that every double
helix in the new generation
of an organism consists of
one complete “old” strand
and one complete “new”
strand wrapped around each
other.
Conservative
Proposes that the old DNA is used as a template
only and is not incorporated into the new double-
helix.
Dispersive
osits a final product in which each double helix of
DNA is a mixture of fragments of old and new DNA.
 MUTATION

Random “copying errors”

along a genome’s long
spelling sequence of base
pairs.
 SOMATIC
MUTATIONS
GERMINAL/ Genetic alteration acquired
GERM LINE by a cell that can be passed to
MUTATION the progeny of the mutated
cell in the course of cell
Mutation occur in the cells division. Somatic mutations
are frequently caused by
that produce the gametes.
environmental factors, such as
exposure to ultraviolet
radiation or to certain
chemicals.
Diagram of Y chromosome
CLASSIFICATION OF MUTATIONS BY
THEIR EFFECTS ON THE DNA
MOLECULE
• SUBSTITUTION/ TRANSITION
-Base is replaced by one of the other three bases.

In Transversion, a purine is substituted for a pyrimidine. or

a pyrimidine is substituted for a purine.

Sickle-cell anemia
Sickle-cell anemia or sickle cell disease
(SCD) Genetic disease of the red blood
cells (RBCs).
It is a point mutation where A
(adenine) is replaced by a T
(thymine).

SYMPTOMS:
• excessive fatigue or irritability, from anemia
• fussiness, in babies
• bedwetting, from associated kidney problems
• jaundice, which is yellowing of the eyes and
skin
• swelling and pain in hands and feet
• frequent infections
• pain in the chest, back, arms, or legs
Sickle-cell anemia or sickle cell disease
(SCD)
 CLASSIFICATION OF MUTATIONS BY
THEIR EFFECTS ON THE DNA
MOLECULE
2. DELETION
- block of one or more DNA pairs is lost
 Cystic Fibrosis (CF)

genetic (inherited) disease that causes

sticky, thick mucus to build up in
organs, including the lungs and the
pancreas.

SYMPTOMS:
• Failure to thrive (inability to gain weight despite having
a good appetite and taking in enough calories).
• Loose or oily stools.
• Trouble breathing.
• Recurrent wheezing.
• Frequent lung infections (recurrent pneumonia or
bronchitis).
• Recurrent sinus infections.
• A nagging cough.
• Slow growth.
Cystic Fibrosis (CF)
 CLASSIFICATION OF MUTATIONS BY
THEIR EFFECTS ON THE DNA
MOLECULE
3. INSERTION
- block of one or more DNA pairs is added
 Huntington's disease

is a rare, inherited disease that causes

the progressive breakdown
(degeneration) of nerve cells in the
brain.
 Huntington's disease

Treatment
No treatments can alter the course of Huntington's disease.
However, medications can lessen some symptoms of
movement and psychiatric disorders. And multiple
interventions can help a person adapt to changes in abilities
for a certain amount of time.

Medications for movement disorders

• Drugs to control movement
• Antipsychotic drugs
• Other medications
 CLASSIFICATION OF MUTATIONS BY
THEIR EFFECTS ON THE DNA
MOLECULE
4. INVERSION
- 180° rotation of piece of DNA
Opitz-Kaveggia syndrome (FG syndrome)

Signs and symptoms FG syndrome is a genetic condition

In addition to the facial and genital that affects many parts of the body and
abnormalities associated with Opitz occurs almost exclusively in males.
syndrome, such as widely-spaced
eyes, cleft lip/palate and hypospadias,
other symptoms may include:
• Difficulty with speech and eating
• Difficulty swallowing and
breathing
Opitz-Kaveggia syndrome (FG
syndrome)

• Speech and feeding therapy

• Tracheostomy or mandibular distraction to treat difficulty breathing
• Regular heart monitoring if heart malformations are present
• Surgery to treat any of the following:
⚬ Laryngotracheoesophageal malformations
⚬ Cleft lip/palate
⚬ Heart defects
• Reflux medications to prevent risk of aspiration
• Educational support if intelligence is affected
• Neuropsychological support
 CLASSIFICATION OF MUTATIONS BY
THEIR EFFECTS ON THE DNA
MOLECULE
5. Reciprocal Translocation
- parts of non- homologous chromosomes change
place
 Chronic myeloid leukemia (CML)
Also known as chronic myelogenous
leukemia, is a type of blood cancer
that primarily affects the bone marrow
and white blood cells.

Symptoms:
⚬ Fatigue and weakness
⚬ Shortness of breath
⚬ Fever and night sweats
⚬ Unexplained weight loss
⚬ Easy bruising and bleeding
Chronic myeloid leukemia (CML)

Treatment
• Targeted therapy
- uses medicines that attack specific chemicals in the cancer cells.
• Bone marrow transplant
- also called a stem cell transplant, is the only treatment that can cure chronic
myelogenous leukemia.
• Chemotherapy
- uses strong medicines to kill cancer cells.
• Clinical trials
-studies of new treatments.
 TYPES OF POINT
MUTATIONS
• Silent Mutation
• Nonsense Mutation
• Missense Mutation
 CLASSIFICATION OF MUTATIONS BY
THEIR EFFECTS ON THE DNA
MOLECULE
6. Frameshift Mutation
- deletion or insertion of a number of bases that is
not multiple of 3.
 Tay-Sachs disease

Symptoms
Rare genetic disorder passed from
parents to child caused by the absence
There are three forms of Tay-Sachs
of an enzyme that helps break down
disease: infantile, juvenile, and late
fatty substances.
onset/adult.
 Tay-Sachs disease

There is no cure for Tay-Sachs disease, and no treatments are currently proved to slow
the progression of the disease.

Supportive treatments include:

• Medication (ex. anti-seizure medications or antibiotics for infection)
• Respiratory care
• Nutrition and hydration
• Physical therapy
• Occupational therapy
• Speech and language therapy
 GENETIC MUTATIONS THAT YOU NEVER KNEW
EXISTED

• Marfan Syndrome
People with Marfan Syndrome
tend to have long and thin arms and
legs.
 GENETIC MUTATIONS THAT YOU NEVER KNEW
EXISTED

2. Mermaid Syndrome
a rare congenital deformity in
which the legs are fused together,
giving them the appearance of a
mermaid’s tail.
 GENETIC MUTATIONS THAT YOU NEVER KNEW
EXISTED

3. SCID
This disease is also known as
Boy in the Bubble Disease. It’s a
disorder in which individuals are
born without any effective immune
system.
 GENETIC MUTATIONS THAT YOU NEVER KNEW
EXISTED

4. Lesch–Nyhan Syndrome

This results in an
overproduction of uric acid, a waste
product of normal chemical
processes that are found in blood
and urine.
 GENETIC MUTATIONS THAT YOU NEVER KNEW
EXISTED

5. Epidermodysplasia verruciformis

A very rare disorder that

makes people prone to widespread
human papillomavirus (HPV)
infection. This infection can cause
scaly macules and papules to grow
on the hands, feet, and even face.
 GENETIC MUTATIONS THAT YOU NEVER KNEW
EXISTED

6. Hypertrichosis
People with hypertrichosis
have excessive hair on the
shoulders, face, and ears.
ANIMAL MUTATIONS
 WHAT CAN HAPPEN?
Some mutations do not cause any noticeable changes, while
others can lead to genetic disorders or diseases.

Mutations can even give an organism an advantage in its

environment, leading to new traits or abilities (species
evolution).