Lesson 3.

4 – Heredity and Variation Each strand is consisting of:

Heredity: Inheritance and Variation

DNA (Deoxyribonucleic Acid)

• It carries genetic information of an

organism.
• It plays a vital role in the transfer of
genetic materials from parents to
offspring.
• In human body, DNA is found in the
nucleus, small amount found in the
mitochondrion.
• Codes for genes, which are
segments of the DNA molecule that
transmits hereditary information.
• Each gene contains instructions for
making proteins in the cell. DNA
Structure:
controls protein synthesis.
• Controls protein synthesis, the
process by which proteins are formed
from amino acids.
Deoxyribonucleic Acid

• Basic structure of DNA is a sugar-

phosphate backbone with 4 variable
nitrogenous bases.
• This structure is called a nucleotide.
The Nitrogenous Base
They are divided into two groups:
Pyrimidines and Purines
1. Pyrimidines (made of one 6-
• Portions of DNA are called genes. member ring)
• DNA is tightly wound into • Thymine
chromosomes and located in the • Cytosine
nucleus of cells. 2. Purines (made of a 6-member ring,
• DNA cannot leave the nucleus. fused to a 5-member ring)
• DNA is DOUBLE STRANDED (2 • Adenine
sides) • Guanine
The rings are not only made of
carbon.
Deoxyribonucleic Acid Ribonucleic Acid (RNA)

• Nucleotides are linked together by

covalent bonds called
phosphodiester linkage.
DNA Double Helix and Hydrogen Bonding

• RNA is SINGLE STRANDED and

does not have to stay in the nucleus!
• RNA is not found in chromosomes
because it does not carry the genetic
code, however it can read the DNA
code and take the information out of
the nucleus.
• RNA’s main job is to build proteins!
RNA Structure

Salient features of the Double-helix structure

of DNA:

• It is made of two polynucleotide

chains, where the backbone is
constituted by sugar-phosphate, and
the bases project inside.
• The two chains have antiparallel
polarity. It means, if one chain has the
polarity 5’ 3’, the other has 3’ 5’.
 • The building blocks of RNA are make a specific amino acid sequence
Nucleotides, just like DNA. specified by the mRNA.
• A Nucleotide in RNA is still made of 3
important things:
1. 6 - Carbon Sugar - Ribose
(instead of Deoxyribose)
2. Phosphate
3. Nitrogen base
• there are 4 nitrogen bases in RNA, A,
G, C, and U that pair together)

Three Main Types of RNA

1. Messenger RNA (mRNA) –
transcribes the genetic information
from the DNA into a form that can be DNA REPLICATION
read and used to make proteins, and
it carries genetic information from the • This is a complex process that takes
nucleus to the cytoplasm of the cell. place during cell division,
(interphase, S phase) whereby DNA
makes copies (duplicates) before the
cell divides through mitosis and
meiosis.
• DNA replication is a
semiconservative process where a
parental strand (template) is used to
2. Ribosomal RNA (rRNA) – is the synthesize a new complementary
structural component of ribosomes. It daughter strand using several protein
directs the translation of mRNA into elements which include enzymes and
proteins. RNA molecules.
• DNA replication process uses DNA
polymerase as the main enzyme for
catalyzing the joining of
deoxyribonucleoside 5′-
triphosphates (dNTPs) forming a
growing chain of DNA.
• Other proteins are also involved for
initiation of the process and copying
of DNA, along with proofreading
3. Transfer RNA (tRNA) – transports capabilities to ensure the replication
specific amino acids to the ribosomes process takes place accurately.
that correspond to each 3 – • Therefore, DNA replication is a
nucleotide codon of rRNA. The amino process that produces identical
acids in the ribosomes are then helices of DNA from a single strand of
joined together in proper order to the DNA molecule.
 • DNA replication is an essential DNA Replication Enzymes and Proteins
mechanism in enhancing cell growth,
1. DNA Helicase Enzyme
repair, and reproduction of an
organism.

• This is the enzyme that is involved in

unwinding the double-helical
structure of DNA allowing DNA
Mechanism of DNA Replication replication to commence.
• It uses energy that is released during
DNA replication takes place in three major ATP hydrolysis, to break the
steps. hydrogen bond between the DNA
1. Opening of the double-stranded bases and separate the strands.
helical structure of DNA and • This forms two replication forks on
separation of the strands. each separated strand opening up in
2. Priming of the template strands. opposite directions.
3. Assembly of the newly formed DNA • The helicase enzyme accurately
segments. unwinds the strands while
• During the separation of DNA, the maintaining the topography on the
two strands uncoil at a specific site DNA molecule.
known as the origin. With the 2. DNA Polymerase
involvement of several enzymes and
proteins, they prepare (prime) the
strands for duplication.
• At the end of the process, DNA
polymerase enzyme starts to
organize the assembly of the new
DNA strands.
• These are the general steps of DNA
replication for all cells, but they may
vary specifically, depending on the
organism and cell type.
• Enzymes play a major role in DNA • DNA polymerases are enzymes used
replication because they catalyze for the synthesis of DNA by adding
several important stages of the entire nucleotide one by one to the growing
process. DNA chain. The enzyme incorporates
• DNA replication is one of the most complementary amino acids to the
essential mechanisms of a cell’s template strand.
function and therefore intensive • DNA polymerase is found in both
research has been done to prokaryotic and eukaryotic cells.
understand its processes.
 They both contain several different • This is the enzyme that solves the
DNA polymerases responsible for problem of the topological stress
different functions in DNA replication caused during unwinding.
and DNA repair mechanisms. • They cut one or both strands of the
3. DNA Primase Enzyme DNA allowing the strand to move
around each other to release tension
before it rejoins the ends.
• And therefore, the enzyme catalysts
the reversible breakage it causes by
joining the broken strands.
• Topoisomerase is also known as
DNA gyrase.
• This is a type of RNA polymerase
enzyme that is used to synthesize or DNA Replication: Steps / Stages
generate RNA primers, which are
I. Initiation
short RNA molecules that act as
templates for the initiation of DNA • This is the stage where DNA
replication. replication is initiated.
4. DNA Ligase Enzyme • DNA synthesis is initiated within the
template strand at a specific coding
region site known as origins.
• The origin sites are targeted by the
initiator proteins, which recruit
additional proteins that help in the
replication process to form a
replication complex around the DNA
origin.
• There are several origin sites on
• This is the enzyme that joins DNA which DNA replication is initiated and
fragments together by forming they are all known as replication
phosphodiester bonds between forks.
nucleotides. • The formed replication complex
Exonuclease contains the DNA helicase enzyme
- These are a group of enzymes whose function is to unwind the
that remove nucleotide bases double helix, exposing the two
from the end of a DNA chain. strands, which act as templates for
5. Topoisomerase replication.
• The mechanism of DNA helicase
enzyme is by hydrolyzing the ATP
that is used to form the bonds
between the nucleobases, thus
breaking the bond that holds the two
strands.
• Additionally, during initiation DNA
primase enzyme synthesizes small
RNA primers that kick-start the
function of DNA polymerase.
 • DNA polymerase enzyme functions • One of the templates reads in the 3′
by growing the new DNA daughter to 5′ direction, and therefore, the DNA
strand. polymerase synthesizes the new
strand in the 5′ to 3′ direction, which
Replication Fork and its Functions
is known as the leading strand.
• Along the template strand, DNA
primase synthesizes a short RNA
primer at the beginning of the
template in the 5′ to 3′ direction,
which initiates the DNA polymerase
to continue synthesizing new
nucleotides, extending the new DNA
strand.
• The other template (5′ to 3′) is
elongated in an antiparallel direction,
by the addition of short RNA primers
which are filled with other joining
fragments, forming the newly formed
• The replication fork is the site of lagging strand. These short
active DNA synthesis, where the DNA fragments are known as the Okazaki
helix unwinds and single strands of fragments.
the DNA replicates. • The synthesis of the lagging strand is
• The replication fork is formed during discontinuous since the newly formed
DNA strand unwinding by the strand is disjointed.
helicase enzyme which exposes the • The RNA nucleotides from the short
origin of replication. RNA primers must be removed and
replaced by DNA nucleotides, which
are then joined by the DNA ligase
enzyme.
Leading Strand

• The leading strand is the new DNA

strand that is continuously
synthesized by the DNA polymerase
enzyme.
II. Elongation • It is the simplest strand that is
synthesized during replication.
• This is the phase where the DNA
polymerase grows the new DNA • The synthesis starts after the DNA
daughter strand by attaching to the strand has unzipped and separated.
original unzipped template strand This generates a short piece of RNA
and the initiating short RNA primer. known as a primer, by the DNA
primase enzyme.
• The DNA polymerase is able to
synthesize a new strand that matches • The primer binds to the 3′ end (start)
the template, by extending the primer of the strand, thus initiating the
via the addition of free nucleotides to synthesize of the new strand (leading
the 3′ end. strand).
 • The synthesis of the leading strand is forming short double-stranded DNA
a continuous process. sections.
III. Termination
Lagging Strand
• After the synthesis and extension of
• This is the template strand (5′ to 3′) both the continuous and discontinued
that is synthesized in a discontinuous stands, an enzyme known as
manner by RNA primers. exonuclease removes all RNA
• During the synthesis of the leading primers from the original strands.
strand, it exposes small, short • The primers are replaced with the
strands, or templates that are then right nucleotide bases.
used for the synthesis of the Okazaki • While removing the primers, another
fragments. type of exonuclease proofread the
• The Okazaki fragments synthesize new stands, checking, removing, and
the lagging strand by the activity of replacing any errors formed during
DNA polymerase which adds the synthesis.
pieces of DNA (the Okazaki • DNA ligase enzyme joins the Okazaki
fragments) to the strand between the fragments to form a single unified
primers. strand.
• The formation of the lagging strand is • The ends of the parent strand consist
a discontinuous process because the of a repetition of DNA sequences
newly formed strand (lagging strand) known as telomeres which act as
is the fragmentation of short DNA protective caps at the ends of
strands. chromosomes preventing the fusion
of nearby chromosomes.
• The telomeres are synthesized by a
special type of DNA polymerase
enzyme known as telomerase.
• It catalyzes the telomere sequences
at the end of the DNA.
• On completion, the parent and
complementary strand coil into a
double helical shape, producing two
Okazaki Fragment
DNA molecules each passing one
strand from the parent molecule and
one new strand.

• Okazaki fragments are short, newly

synthesized DNA fragments that are
formed on the lagging template
strand during DNA replication.
• They are complementary to the
lagging template strand, together
 Mutations Causes of Mutations

• Mutations can also be caused by

environmental foes. Tobacco,
ultraviolet light and other chemicals
(Hydroxylamine Base analogs, etc.)
alkylating agents are all potential
enemies of DNA.
• These agents cause the DNA to
break down. This is not necessarily
unnatural — even in the most isolated
and pristine environments, DNA
breaks down.
• A mutation is the permanent
alteration of the nucleotide sequence Types of Mutation
of the genome of an organism, virus,
or extra chromosomal DNA or other 1. CHROMOSOMAL MUTATION
genetic elements. • DELETION
• Mutations result from errors during • DUPLICATION
DNA replication or other types of • INVERSION
damage to DNA. • TRANSLOCATION
2. GENE MUTATION
Causes of Mutations • POINT MUTATION
• FRAMESHIFT MUTATION
CHROMOSOMAL MUTATION

The Two Main Causes of Mutation:

• Mistakes in Cell Replication

• A chromosome aberration, or
• Environmental Factors
mutation is a missing, extra, or
Mistakes in Cell Replication irregular portion of chromosomal
DNA. It can be from a typical number
• During replication of DNA, double of chromosomes or a structural
strands of DNA are separated. Each abnormality in one or more
strand is then copied to become chromosomes.
another double strand. About 1 out of
every. Types of Chromosomal Mutation
• 100,000,000 times, a mistake occurs 1. Numerical disorders
during copying, which can lead to a • This is called aneuploidy (an
mutation. abnormal number of chromosomes)
and occurs when an individual either
is missing a chromosome from a pair
(monosomy) or has more than two
 chromosomes of a pair (trisomy, 2) Duplication
tetrasomy etc.).
• In humans, an example of a condition
caused by a numerical anomaly is
Down Syndrome, also known as
Trisomy 21.
2. Structural Abnormalities
When the chromosome's structure is
altered, this can take several forms:
DELETION, DUPLICATION,
INVERSION, TRANSLOCATION

• Duplication occurs when gene

sequences have been repeated
several to many times.
• One example of a disease caused by
duplication is the Charcot-Marie-
Tooth disease. This genetic disorder
1) Deletion
is a result of the duplication of a large
region on the short arm of
chromosome 17.
3) Inversion

• Deletion involves the loss of a piece

of chromosome or a break of the DNA
molecule.
• An example of disorders that results
from deletion id cri-du-chat
syndrome. It is a disorder known as
chromosome 5p deletion
syndrome. The cry of affected
infants is similar to that of cat’s cry
due to problems with their voice box
and nervous system.
• Inversion occurs when a part of the • Mutations range in size; they can
DNA segment within the affect anywhere from a single DNA
chromosome changes in direction. building block (base pair) to a large
• Hemophilia A, bleeding disorder segment of a chromosome that
caused by factor VIII deficiency, is a includes multiple genes.
result of the rearrangement 1. Point Mutation
(inversion) of a section of the long
arm of the X chromosome.
4) Translocation

• Translocation happens when a • A point mutation is a type of

piece of one chromosome moves to a mutation that causes a single
nonhomologous reciprocal nucleotide base substitution,
chromosome. insertion, or deletion of the genetic
material, DNA or RNA.
GENE MUTATION
Causes of Point Mutations

• Point mutation is a random SNP

(single-nucleotide polymorphism)
mutation in the DNA.
• A single point mutation can change
the whole DNA sequence.
• Point mutations may arise from
spontaneous mutations that occur
during DNA replication. The rate of
mutation may be increased by
mutagens.
2. Frameshift Mutation

• A gene mutation is a permanent

alteration in the DNA sequence that
makes up a gene, such that the
sequence differs from what is found
in most people.
• A frameshift mutation (also called a PROTEIN SYNTHESIS
framing error or a reading frame shift)
is a genetic mutation caused by
indels (insertions or deletions) of a
number of nucleotides in a DNA
sequence that is not divisible by
three.

PROTEIN

• The process of protein synthesis

occurs when DNA produces an RNA
template which then directs the
amino acids to be introduced into the
growing protein chain in the proper
sequence. A specific transfer-RNA
(tRNA) attaches to each specific
amino acid and brings the amino acid
• Proteins are the final product in the to the RNA for incorporation.
central dogma of molecular biology.
• They are called the building blocks of PROCESSES IN PROTEIN
life because they have diverse TRANSCRIPTION
functions in the body.
1. Transcription
• Proteins aid in transporting
molecules around the body.
• Proteins act as enzymes.
• Proteins act as passageway of
molecules and substances into and
out of the cell.
 • Transcription is the first part of the GENETIC CODE
central dogma of molecular biology:
DNA → RNA.
• It is the transfer of genetic
instructions in DNA to mRNA.
• During transcription, a strand of
mRNA is made to complement a
strand of DNA.
Steps of Transcription

• Initiation is the beginning of

transcription. It occurs when the
enzyme RNA polymerase binds to a
region of a gene called the promoter.
This signals the DNA to unwind so the
enzyme can “read” the bases in one • It is the language of instructions in
of the DNA strands. The enzyme is mRNA.
ready to make a strand of mRNA with • It is the code for each piece of genetic
a complementary sequence of bases. information in DNA (which specifies in
• Elongation is the addition of one amino acid) which is transcribed
nucleotides to the mRNA strand. to mRNA to be decoded during
• Termination is the ending of translation.
transcription. The mRNA strand is
complete, and it detaches from DNA.
2. Translation

• Translation is the second part of the

central dogma of molecular biology:
RNA → Protein. CODON AND ANTICODON
• It is the process in which the genetic
code in mRNA is read to make a • A triplet code (codon) is a code in
protein. which a sequence of three
• After mRNA leaves the nucleus, it nucleotides in DNA and later in RNA
moves to a ribosome, which consists specifies one amino acid.
of rRNA and proteins. The ribosome • Anticodon is the triplet code on tRNA
reads the sequence of codons in which recognizes and complements
mRNA, and molecules of tRNA bring the codon on mRNA during
amino acids to the ribosome in the translation.
correct sequence. - A start codon (code for
methionine) initiates all
polypeptide synthesis.
 - A terminator (stop) codon Lesson 5: Evolution
terminates the elongation of
polypeptide chain. Evolution

ESSENTIAL AND NON-ESSENTIAL

AMINO ACID

• Is an inherited change in the traits of

organism over time.
• It is a process wherein new species
came from preexisting species.
Lamarck’s Theories of Evolution

Jean-Baptiste de Lamarck, a French

biologist who first suggested that organisms
undergo evolution.

• He proposed that all organisms

evolve in response to their
environment.
• He also studied fossils and
organisms, which led him to
 formulate theories regarding Darwin’s Theory of Natural Selection
evolution.
• His theory explained why organisms
change over time.
1. Theory of Need

Charles Darwin, an English Naturalist,

contributed the widely accepted theory of
evolution by means of natural selection.

• His theory of natural selection

provided the foundation for
“Organisms change because they need to understanding the diversity of
and as a response to the environment, species on Earth.
making their traits more adaptable.” • Species refers to a group of
organisms that have similar features
• The traits that the organisms manifest and characteristics and can produce
are products of their altered fertile offspring in a specific
behaviors. environment.
2. Theory of Use and Disuse
Major Ideas of the Concept of Natural
“Organisms developed characteristics by Selection
the use and disuse.”
1. Variation of Organism
• Lamarck explained that organisms
can reshape their traits depending on
the importance of those traits to them.
• An organism will develop a trait that
is useful to it, and it will lose a trait that
is useless.
3. Theory of Acquired Traits
“An organism can develop acquired traits
as adaptations, and these traits acquired • Organisms vary in their physical,
in its lifetime could be passed on to its functional, and behavioral
offspring.” characteristics.
• No two individuals are the same.
• Variation is important in natural
selection because it allows a specific
kind of species to survive more than
other members.
• Variations of organisms are passed adaptable traits for future
on to the next generation. generations.
2. Survival of the Fittest 4. Natural Selection

• Competition is a struggle for

existence. • Environmental conditions affect the
• All organisms will struggle for living survival of organisms.
space and food in the natural world. • Only those organisms that can adapt
• Because of this struggle for survival, to new environmental conditions will
organisms are compelled to change survive and reproduce in greater
to fit into the environment. numbers than those without the
• Failure to do so will result in extinction capacity to adapt.
– a process wherein all individuals of 5. Process of Speciation
a given species cease to exist.
3. Adaptation to the Environment

• When new species come to

existence, speciation occurs.
• This process happens when
• Organism who can adapt to their favorable traits are gradually
environment would most likely accumulated by the new species and
survive and produce an offspring with the unfavorable traits disappear.
adaptable traits.
• Adaptation is the process of being
better suited to the environment.
• The fittest organisms would avoid
extinction and have the ability to
reproduce healthy offspring, which
will guarantee transmission of
 PALEONTOLOGY • It starts when water infiltrates the
remains buried underneath and
• It is a scientific study of prehistoric
inorganic compounds are dissolved
life, which includes the identity, origin,
replacing minerals in bones and other
environment, and evolution of
hardened tissues.
organisms.
• Accumulation of sediments exerts
• Fossils are considered as direct
pressure on the burial site of the
evidence of ancient life.
organism.
• Using fossil records, Paleontologist 2. Freezing
can identify organisms that flourished
millions of years ago and reconstruct
the environment they inhabited.
INDIRECT EVIDENCE OF FOSSILS
A. Body Fossils
- These includes the discovered
bones, teeth, shells, and other
hard materials of once living • It occurs when organism’s remains
organisms. get frozen.
B. Trace Fossils • Examples of the effects of freezing
- These includes imprints of are the remains of woolly mammoths
leaves, stems, burrows, tracks, and rhinoceroses during the ice age.
footprints, coprolites (fossilized 3. Desiccation
feces).
FOSSIL EVIDENCE
Fossilization
a gradual process that starts when volcanic
ash or sediments cover an organism or its
traces. Fossils can also be formed by:
A. Petrification
B. Freezing
C. Desiccation
D. Carbonization • It occurs when the remains dry up for
How Fossils are formed: a long period of time.
• Example of the effect of desiccation
1. Petrification/Petrifaction is the remains of giant ground sloths
in desert or dry areas.
4. Carbonization
 • It occurs when the only remaining • It is the study of how organisms
component of an organism is carbon develop from fertilization to birth.
– the most common component in • The development of embryos,
plant fossils. similarities in the DNA of protein
• Example of this is Amber, a fossilized organisms, and protein compositions
sap of ancient pine trees that may offer additional sets of indirect
contain fossil insects or other small evidence of evolutionary relationship.
animals trapped in the sticky sap. • Embryos of different species have
similarities, especially in the later
STRATIGRAPHY
stages of development for more
It is the study of rock layers, wherein scientist closely related animals indicating
compare large and microscopic fossils related ties.
located on different rock layers to assign
STRUCTURAL EVIDENCE
relative ages of rocks.
1. Homologous Structures
• Index Fossils
- It is used to determine the relative
age of the rocks.
- Examples of index fossils are
ammonites, trilobites and corals.
• Radiometric Dating
- It is used to determine the actual
age of the rocks.
- Scientists are determining
radioactive isotopes presents in
the sedimentary rocks.
- Radioisotopes decay into
• These are body structures of different
nonradioactive elements at a
organisms that have similar
constant rate.
arrangements and patterns in
- The rate of radioactive decay is
embryonic development.
measured by half-life.
• Several kinds of organisms have
• Half-life
homologous limbs.
- It is the length of the time required
for half of the radioisotopes to • These limbs have common internal
decay. bone structures but are adapted for
different functions.
EMBRYOLOGICAL EVIDENCE 2. Analogous Structures
Embryology
• They have similar appearance and
function, but they differ in origin.
• Examples are the wings of birds,
bats, and insects for flying.
• These types of wings look similar and
perform the same function, but they
possess different internal structures.
• Vestigial Organs are body parts
without specific functions and
resemble the structure of their
presumed ancestors.
BIOLOGICAL EVIDENCE
Nucleotide and Protein Sequence

• The sequence of nucleotides making

up DNA is also evidence of evolution.
• The theory of evolution shows that if
species evolved over time, their
genes must also have evolved.
• In this theory of evolution, genes
accumulate modifications in their
nucleotide sequence.
• Closely related species will have
genes that show more similarities in
the nucleotide and protein sequence
than those of distantly related
species.