Genetics and Evolution
CHAPTER FIVE
Introduction
Genetics
A field of biology/ forms one of the central pillars of biology
Show how traits are passed from parents to their offspring.
Heredity: the passing of traits from parents to offspring
makes offspring look like their parents
influences the appearance and behavior of the offspring
The environment also influence genes expression
Variation: difference b/n individuals and species
Components of genetics
DNA
Molecules hold all the genetic information for a cell or an
organisms
Cells need to perform tasks such as grow, survive and
reproduce.
RNA
Gene : traits they code for
section of a DNA molecule that tells a cell to perform one
specific task.
Chromosomes
Genetic variation: molecular mechanisms reshuffle,
duplicate, and alter genes in a way that produces.
raw material for evolution.
Mendelian genetics and patterns of
inheritance
Gregor Mendel:
the way in which traits are passed from one generation
to the next
sometimes skip generations
first explained by experimenting with pea plant breeding
developed three principles of inheritance described the
transmission of genetic traits
insight greatly expanded the understanding of genetic
inheritance, led to the development of new
experimental methods
Conti...
Traits are passed down in families in different patterns
Illustrate by Pedigrees, following specific characteristics
For example, a family in which a grandmother (generation I) has passed
down a characteristic through the family tree.
= Dominant,
Because it is observable in every generation
Every individual who carries the genetic code for this X-cs will show
evidence of the X-cs
= Recessive,
X-cs may disappear in one generation, only to reappear in a subsequent one.
History of Genetics
Mendelian inheritance:
A type of biological inheritance follows principles
Proposed by Gregor Mendel in 1865 and 1866.
Re-discovered in 1900 and popularized by William Bateson
Boveri-Sutton chromosome theory of inheritance in1902 and
1903
Integration: Mendel's theories with Boveri-Sutton theory by Thomas
Hunt Morgan in 1915: Become core of classical genetics.
Ronald Fisher’s book: theory of natural selection in 1930: putting
mathematical footing of evolution → for population genetics
Conti...
Formulated idea after conducted hybridization
experiments
Pea plants (Pisum sativum).
He induced two generalizations later become,
Mendel's Principles of Heredity or Mendelian
inheritance.
Crossing only with plants, were true-breeding.
Gregor Johann Mendel
Only measured discrete (binary) characteristics, such
1856 - 1863
as color,
Expressed his results numerically and
Subjected them to statistical analysis.
Conti...
Using the consistent pattern of results of the crosses, Mendel
derived the following four principles of inheritance in 1866
Principles of Inheritance
1. Characters are pairs. i.e , they are discrete (purple vs. white, tall
vs. dwarf).
Mendel's law of segregation
2. Genetic X-cs have alternate forms, /alleles/ each inherited from
one of two parents.
Study questions
Why Mendel selected pea (Pisum sativum) plant for his
experiment ?
What is genotype and phenotype?
Discuss the 3 law’s of mendelian inheritance
Law dominance
Law of segregation
Law of independent assortment
Molecular genetics and inheritance
DNA (deoxyribonucleic acid)
Made of --- Nucleotides
Anti-parallel
Why the DNA strands run anti-parallel and exist as a double
helix?
Conti...
Chromosome
DNA
Histone: core of a chromosome
• DNA wrapped is the loosely
organized form
• a set of globular (30) proteins
Condensed Individual
chromosomes easily distinguished
COC: genes are inactive for
transcription
Un COC allows the genes to be
active.
During cell division,
chromatin loops will have
duplicated,
compacted or “condensed”
form a chromosome
DNA
Molecules hold all the genetic information for almost all organisms.
It provides cells with the information they need to perform tasks that
allow an organism to grow, respond and reproduce.
Made up two strands of polynucleotides joined together and twisted
into a double helix and the strands are anti-parallel to each other.
There are four types of nucleotides:- Adenine (A), Guanine (G),
Cytosine (C), Thymine (T) (in DNA, or Uracil (U) in RNA)
All nucleotides: a phosphate group, a pentose sugar (deoxyribose in
DNA and ribose sugar in RNA) and one of four nitrogen bases
Conti...
Conti...
Bonds: b/n sugar in one nucleotide and the phosphate group in the next
Base: does not take in this linking of the nucleotides in a strand.
Sugar- phosphate: backbone of DNA strand (3‘OH – 5’P end)
Base pairing- rule: nucleotides in both strand are paired with
Adenine – Thymine(uracil in RNA)
Cytosine – Guanine
DNA: a very stable molecule at normal temperature.
H- bonds hold the two strands together in position through the bases.
DNA stability: ensuring the genetic code in the DNA molecule – does not become
corrupted.
DNA replication and cell division
DNA replication:
Ability of DNA to make copy of itself
The basis for reproduction and inheritance.
DNA: exists within chromosome (in the nucleus), a 'soup' of free DNA
nucleotides, enzymes and other proteins .
DNA structure: double helix and must replicate semi-
conservatively.
Each strand acts as template for the synthesis of new strands
New formed DNA: contains one old strand and one new strand
Both new DNA: identical to each other and to the original molecule.
Conti...
Enzymes are involved in DNA replications are:
DNA helicase , Topoisomerase, RPA in eukaryotes or SSBP
in prokayotes Primase, DNA Ligase, Telomerase
DNA polymerase:
follow the helicase activity, synthesis of a new strand.
assembles free DNA nucleotides into new strands(5’ – 3’ end)
new strands is complementary to its template strand/ base-
pairing rule/
Result: Two-identical DNA molecules. Semiconservative theory.
Conti...
DNA replication process
Initiation
Initially, initiator proteins bind to DNA sequences
At a replication origin, forms initiator protein–DNA complex.
DNA helicase break H-bonds and create ‘Y’ shape: replication fork.
Elongation
o DNA polymerase requires a free 3' hydroxyl group
o Primase synthesize a short RNA primer with free 3' hydroxyl group
o DNA replication is always in 5' to 3' direction.
Termination
DNA replication terminates when replication forks meet
Conti...
Leading strand
Synthesized in the same direction as the growing replication fork
Synthesized on 3’ to 5’ template
Continuous basis. Uses only one RNA primer
Lagging strand
Synthesis in opposite to the direction of the growing replication
fork
Synthesized on 5’ to 3’ template).
Discontinuous, short segments: Okazaki fragments. Each
fragment use RNA primer
Cell division
The process by which a parent cell divides into two or more daughter cells.
Regardless of organism, are preceded by a single round of DNA replication
In eukaryotes, mitosis: a vegetative division(somatic),
each daughter cell is genetically identical to the parent cell.
Meiosis: a reproductive cell division,
number of chromosomes in the daughter cells is reduced by half to produce haploid
gametes
four haploid daughter cells
Homologous chromosomes:
separated in the first division, and sister chromatids in the second division.
Conti...
Prokaryotes (bacteria)
A vegetative cell division known as binary fission
Their genetic material is segregated equally into two daughter cells.
Most common
Budding: A new organism develops from an outgrowth or bud due to cell division
at one site
Unicellular organisms : such as amoeba, one cell division is equivalent to
reproduction
Conti...
1.
Cell type
2.
No. of
division
3.
Time
duration
4.
No. of
daughter
cells
5.
Formed
cells
6.=
Recombina
Mother
tion
=
Protein synthesis
Code for protein synthesis is specified by DNA and has to be sent
to ribosome
Events during protein synthesis
i. Transcription
DNA code for protein is rewritten in a molecule of messenger RNA
(mRNA)
ii. MRNA travels from nucleus to ribosome
iii. Free amino acids are transported from cytoplasm to ribosome by
transfer RNA (tRNA)
iv. Translation: Ribosome: mRNA code → AA /a protein
Genetic code
A set of rules show how codons in mRNA specify amino acids
Held in the DNA molecule,
Nucleotides sequence, made a gene code
a triplet /sequence of three bases/, that carries a code for a
protein.
1. there are 4 bases, 43 → 64 possible triplet codes /amino acids/
only 20 amino acids are used to make all different proteins.
What is the purpose of the other 44 codes ?
Degeneracy: genetic code is degenerate: multiple codons can
specify the same amino acid.
Conti...
2. Strands of a DNA
Sense strand or coding stand and non-coding or antisense strand.
3. Most amino acids have more than one code, except methionine
and tryptophan
Arginine: CGT, CGC, CGA, CGG, AGA and AGG
4. Three triplets (TAA, TAG, and TGA) do not code for amino acids
stop codes signify the end of the coding sequence
start codon = AUG – initiate ,, ,, ,,
DNA code is :
5. Degenerate code –non-overlapping codes i.e., each triplet is
distinct from all others
6. Universal code: codons have similar meaning in human, redwood
tree, bacterium or in any organism
E.g. TAT- tyrosine , ACC – threonine, GGG-glycine
Genetic codes
N.B. It is not just the base that matter but the sequence, e.g. ATT
codes of different amino acid from TTA
Transcription
Components needed for “Transcription”
DNA template with promoter and terminator regions
Transcription factors (TFs) – starter
Free nucleotides
RNA polymerase
Termination factors – terminator
The transcription process includes:
Initiation Elongation Termination
Produces mRNA post-transcriptional modification
Major steps: Transcription
Transcription factors (TFs) bind to a promoter sequence of
TerminatioElongatio Initiatio
the gene to be activated
TFs are proteins that bind to a regulatory sequence of DNA
near to the gene they influence
n
RNA polymerase binds to the DNA/TF-complex
RNA polymerase become activated and transcribes the
antisense strand of the DNA by joining the free nucleotides (5’-3’
direction)
n
o RNA polymerase reaches termination site (DNA with
termination factor)
o mRNA and RNA polymerase released
n
The gene is now being expressed.
Produces mRNA post-transcriptional modification
Cont...
Translation
Components needed for “Translation” comes together
Energy = GTP/not ATP
Ribosome
mRNA (messenger-RNA)
tRNA (transfer-RNA) with amino-acids
Has anticodon triple nucleotide complementary to codon
Conti...
2) tRNA carries the 2nd amino-acid
1) tRNA carries the first amino
to the ribosome
acid (???) to the ribosome. Peptide bond formed b/n
amino-acid in the P and A-
site
Conti...
3) After peptide bond formed 4) Ribosome moves along mRNA until
tRNA is in the P site
tRNA is released to find amino acid
Process continues down mRNA
Conti...
6) When the ribosome get a stop
5) Ribosome continues down mRNA
codon, the polypeptide chain (the
Peptide chain elongatesprotein) will be released
UAG, UAA, UGA
Conti...
7) The last tRNA is released and ribosome disassembles (tRNA,
mRNA, and ribosome can be reused)
The polypeptide chain form a new protein
Read
How the protein synthesis
is different in prokaryotic
cell???
The human body does not
store excess amino acids
like fat and glycogen for
later use. Where does the
20 amino-acids comes
from???
o What about plants?
Amino acid synthesis
Most amino-acids are synthesized from keto-acids
The keto-acids receive amino-group (transaminated) from an
amino-acid to synthesize different amino-acid
Transamination: the process of transferring the amino group of an
amino acid to a keto-acid, to generate a new amino-acid.
Control of gene expression
Cells control the synthesis of protein so as to regulate the physiology
of the cell and body.
Regulation of transcription is the most common in gene control
Genes are switched on and off by "transcription factors
(TFs)“
Post-transcriptional regulation
Short interfering RNA (siRNA)
Interfere/silence the mRNA once it has been transcribed from
DNA
Are unusual-very short, only 21-23 nucleotides
Double stranded
Regulation of translation
Ribosomal subunits
RNA binding proteins
Mutation
Any change in the genome of an organism
from a single nucleotide chromosome set of chromosome
Occur spontaneously (accidentally) during DNA replication or cell
division
Are rare events
Each human cell contains 6x109 base pairs
One mutation occur per 50*106 base pairs ~ each new cell has an
average of 120 mutations. However,
Most mutations detected & repaired
95% of our DNA is non-coding, most unlikely to affect genes
Rate of mutations can be increased by:-
Carcinogenic chemicals – e.g. tobacco (nitrosamines, polycyclic
aromatic hydrocarbons …)
High energy – e.g. UV, x- ray
Types of mutation
1. Point mutation: - changes that involves a single base
o Substitution: one base is replaced by other base
o Addition: an extra base is added
o Deletion: a base is missed out during DNA replication
2. Chromosomal mutation: - change involves part or whole chr.
A. Structural mutation: - any change in the part/segment of a
chromosome
o Deletion: - loss of a segment of chromosome. Eg. Gidu syndrome- deletion
of Chr.5 segment
o Addition: - gain of a segment of chromosome
o Inversion: - a segment inversely oriented in relation to the standard
chromosome.
o Translocation: - a segment transferred form original location to new location
on same or different chromosome.
o Duplication: - a segment copied more than once on a chromosome
Conti...
B. Numerical mutation: - any change in the number of
chromosomes of a cell/organism
o Aneuploidy: a cell/organism gain or loss one or more
chromosome/s. Eg. In human:
2n+1 = trisomy/47 chromosomes, e.g. Down’s syndrome
2n-1 = monosomy/45 chromosomes, e.g. Turner syndrome
2n-2 = nullisomy /44 chromosomes
Conti...
o Euploidy/polyploidy: - a cell/organism has one complete
set of extra-chromosome variation in number of
chromosomes sets
Eg. triploid, tetraploid, hexaploid, etc.
Consequence of gene mutation
95% of our DNA is non-coding, most unlikely to affect genes
Mutations on somatic (non-sex) cell cannot be inherited but may result
in:
Harmless
Damage the cell
Kill the cell
Make cell cancerous- which might kill the person
Two types of gene regulating cell division and prevent tumor formation
Proto-oncogenes: - genes which control cell division
if mutate, become oncogenes, stimulate uncontrolled cell division
Tumor-suppressor genes: recognize uncontrolled cell division and
suppress cell division
If mutate, uncontrolled cell division continues
Genetic Engineering (GE)
GE is a process of altering the genome of an organism
by incorporating extra (foreign) gene from different
organisms
The organism is termed genetically modified organism
(GMO), transgenic organism or genetically engineered
organism.
GE: involves a group of techniques used to cut up and
join genetic materials together, especially DNA from
different biological species, and to introduce the
resulting hybrid DNA into an organism in order to form
new combinations of heritable genetic material.
Applications of GE
Insulin: 1st drug: rDNA
Antibiotics
Washing enzyme
Enzyme for food processing
Human growth hormone
Bovine somatotrophin in cattle
High milk and muscle development
Conti...
In plants
To absorb more CO2 - global warming
Disease or drought resistance
Improve crop yield and quality
Golden rice produce beta-carotene
• Human body converts it into vitamin A that prevent night
blindness
In animals
High yield of protein, high growth rate
Genetically modified salmon and Tilapia fish grow bigger and faster
Specific products eg. insulin
Detection of water pollution
Glofish glow in the dark b/c they have had bioluminescent gene from
jelly fish
Other potential areas
Disease prevention: detection of defected genes
Vaccines-Hepatitis B
Treatment of infectious diseases – implanting antibodies
ABO blood group
In 1901
Karl Land Steiner discovered the blood types, A, B, and O
Type AB discovered later.
RBCs will contain proteins of type A, or B, or both, or neither.
Antibodies in the plasma will attack any foreign type.
Alleles of types IA and IB are dominant over type i.
Rh factor (D antigen)
Second most important blood group system
First discovered in Rhesus monkeys
Inherited independently from the ABO blood type
Rh Sensitization: How Rh- mother give birth a Rh+ baby?
What are the possible medical scenario? Please read more?
Introduction to Evolution
? Why all organisms on earth have some common aspect?
? Why some species are simple and other are complex?
? What is the origin of life on earth?
? Why some organisms disappeared, some small in number and
other flourish on earth?
Evolution
The gradual change of organisms on the earth over long period of
time, with new forms replacing old ones.
Brings change in genetic composition of a population over
successive generations
Caused by mutation, recombination and hybridization, and
enforced by natural selection.
As evolution progress:
Create variation between individuals that increase the
biodiversity of the planet
Evolution diverge populations of the same species to from new
species that leads to the origin of new species.
Evolution converge populations of different species to become
one species.
Larger and more complex organisms replaced the smaller
Some species extinct and some succeed
Theories on the origin of life on
‘Earth’
Describes how the various forms of life on earth (including
humans) emerged and developed
There are five main theories on the origin of life on Earth
1. Special creationism
2. Spontaneous generation
3. Eternity of life
4. Cosmozoan theory
5. Biochemical origin
Conti...
1. Special creationism
Every life on earth were created by a Supreme Being (God)
at once with six days
Linked to religion and mainly focused on spiritual matters
that cannot be seen, touched or measured.
Types of creationism theory
Gap creation:
There was a large gap of time between the formation of the
earth and the creation of life on earth
Conti...
Progressive creationism: accepts the Big Bangs as the
origin of the universe
It accepts the fossil record of a series of creation for all
organisms but all organisms were created as unique creation.
Evolutionary creationism (Theistic evolution):
God ‘invented’ evolution and uses some form of an active
part in the ongoing process of life to create new organisms.
Intelligent design:
Life were formed due to a combination of natural forces and
the intervention of God
Conti...
2. Spontaneous generation theory
Life can develop 'spontaneously' from non-living objects
E.g. people believed that rotting meat turned into flies
3. Eternity of life
The universe has always existed and that there has always
been life in the universe
There is no beginning and no end to life on earth and so life
is neither created nor generated from non-living matters
4. Cosmozoan Theory
States that life on the earth originally came from elsewhere in
the universe (possibly from another planet)
E.g. Meteorites brought bacterial spores, germs to the earth
Conti...
5. Biochemical / Abiogenesis theory
Life on earth originated from chemicals as a result of several biochemical
reactions producing organic molecules, which combined to form cells.
Proposed by: Alexander Oparin (1924) and John Haldane (1929)
They suggested:
The primitive atmosphere of the earth was a reducing– no free O2
There was an appropriate supply of energy, such as lightening or ultraviolet
light
This would provide the energy for reactions that would synthesize a wide
range of organic compounds (amino acids, sugars and fatty acids)
Conti...
Aleksander Oparin: suggested
The primitive atmosphere of the earth contained NH3, H2, H2O
and CH4
At high temperature (above boiling point), these gases could
have undergone a series of chemical reactions and might
have formed colloidal aggregates or coacervates (collections of
droplets that composed of molecules of different types)
These coacervates were able to absorb and assimilate
organic compounds (amino acids, DNA and others) and
leading to the first true cells
Conti...
John Haldane: Proposed
The chemical reactions of these gases were occurred in the
primitive sea by solar energy
The sea became a ‘hot dilute soup’ of organic monomers and
small polymers
Stanley Miller (1953): verified the biochemical theory
He applied electrical sparks repeatedly through a mixture of
gases (NH3, H2O, H2 and CH4, and no O2) connected with a flask
of heated water
Miller left the equipment for longer periods of time.
Conti...
Results formation of complex organic molecules includes:
Amino acids - to form proteins
Pentose sugar - to form nucleic acids
Hexose sugar - need for respiration and formation of
starch and cellulose
Hydrogen cyanide (HCN)- starting point for synthesis of
nitrogen bases in the nucleotides
This experiment gave strong evidence to support the
Oparin-Haldane hypothesis (the biochemical / abiogenesis
theory)
Conti...
Around 4B years ago, the first life/cell appeared on earth
Prokaryotes –
the first originated organism on earth were prokaryotic
heterotrophs, and they were anaerobes as oxygen was absent
on earth at that time.
They would have fed on organic chemicals (soup)- formed
spontaneously in the sea chemohetrotrophs
Then, they evolved to chemoautotrophs that are believed to be
the first autotrophic organisms to inhabit Earth.
1. Archaebacteria: first appeared
They can survive under harsh environments
Includes: thermophilic bacteria, sulphobacteria, methanobacteria
and halophilic bacteria.
Conti...
2. Eubacteria: then followed
True bacteria, i.e. ordinary bacteria and cyanobacteria (blue-
green algae)
3.5B years ago, the first photo-autotrophs Cyanobacteria (blue-
green algae) evolved.
Cyanobacteria had been producing O2 by photosynthesis.
There photosynthetic pigment is phycocyanin (like chlorophyll in
plants) that gives them their blue green appearance.
Due to the start of photosynthesis, O2 was released as a by-
product and this changes the earth’s atmosphere from the
reducing to oxidizing (O2 containing atmosphere).
Eukaryotic –
Finally, eubacteria evolved to protistas, then protistas evolved
to fungi, plants, and animals (nearly all are aerobic)
Theories of Evolution
1. Lamarck Theory of evolution / Theory of
transformation / Lamarckism
In 1809, Lamarck published ‘Zoologique’ has two parts
a) Use and disuse:
o A structure or process in an organism that are used
continuous will become enlarged or more developed USE
e.g. the neck of Giraffe
o And, a structure or process in an organism that are not
used will become reduced or less developed DISUSE
e.g. the wing of Penguins
b) Acquired traits
Traits changed (acquired during an organism’s lifetime)
could be passed to its offspring
E.g. Giraffes that had acquired long necks would have
offspring with long necks.
Conti...
2. Charles Darwin and Natural Selection:
In 1858, Charles Darwin and Alfred Wallace jointly published a
scientific paper that proposed species were modified by natural
selection
Darwin studied:
The finches found on the different islands and noted there
were many similarities b/n them but have some obvious
differences.
Some finches had evolved into insect eaters (pointed peak),
other in to seedeaters (crushing peak).
Darwin noticed that:
An “ancestral finch” had colonized the islands from mainland.
Then, it was able to adapt to different conditions on the
islands and evolve into different species.
Conti...
Darwin summarized two main
ideas
All species tend to produce more
offspring than can possibly
survive.
There is a variation among
Darwin deduct that:
offsprings.
There will be a “struggle for existence” b/n members of a
species because they are over-reproduced and resources are
limited
Some members of a species will be better adapted than
others to the environment because there is a variation in the
offspring
Based on this two deductions, Darwin proposed:
Members of a species, which are best adapted to their
environment, will survive and reproduce in greater number than
Conti...
The modern theory of natural selection that was
proposed by Darwin and Wallace that stated 3 points:
i. Overproduction of offspring (fecundity) – the number of
offspring produced by species is greater than the number that
can survive, reproduce and live to maturity.
ii. Struggle for existence – resources (e.g. food, space, light,
etc.) are limited in the living environment, would lead to
struggle for existence. Individuals best fitted to new
conditions of life survive and the least fitted will perish/die
first. This is termed as survival of the fittest.
iii. Variations – the individuals in the species are not identical,
but show variations in their characteristics. These variations
result in changes, which would ultimately lead to evolution.
Natural selection means simply, ‘Nature selects the variations
that are most suitable for adaptation and reproduction’.
Conti...
3. Neo–Darwinism Theory:
Genes and genes action are the driving force of evolution
in the theory of Natural Selection.
A modification of Darwin’s original theory that consider
genetics and ethology (animal behavior)
Mutations are important in introducing variation into
population because it could produce new allele.
An allele determines the character the organism in its
environment.
Any mutation could produce an allele which confers an
advantage, neutral (no effect) or disadvantage.
Conti...
If the new allele is advantageous, the following will happen: -
i. Individuals with the advantageous allele will survive to
reproduce in greater number than individuals with other alleles
ii. Advantageous alleles pass to their offspring in greater numbers
than other alleles
iii. The frequency of the advantageous allele will be higher in the
gene pool of existing and next generation of a population
Gene pool is the collection of genes with all the alleles
present in a population or a species.
The accumulation of changes in genes might evolve a
population into a new species.
Evidence of Evolution
There are five main types of evidence for evolution:
1. Paleontology (fossil study): this include 2 groups:
category I (bones, tooth, hair and skin) and category II (foot
print, coprolite/fossilized faeces). Two ways of Fossil
dating:
o Relative dating: based on layer of sedimentary rock
/strata. Fossil with few layer represent it lives earlier
and vise versa.
o Absolute dating: i.e. radioactive dating
E.g. a. Carbon dating: calculated based on C14 decay
into non- radioactive nitrogen (N14). b) Potassium
dating: K40 decay into argon atoms (A40).
2. Comparative embryology: is the comparison of embryo
development across species. Similarity in development
pattern suggest common ancestry and vise versa.
Conti...
3. Comparative anatomy – based on structural similarity of
organisms. There are two types:
Homologous structure: structures with similar physical
feature that evolved from a common ancestor.
E.g. Four limbs of human, mice, cat, …
Analogous structure: structures with different physical
feature that has different evolutionary relation but similar
function.
E.g. wing of mosquito and bird
4. Comparative biochemistry/ molecular biology: comparing
DNA and protein of organisms. Similar nucleotide sequence
between DNA or amino-acid sequence between proteins suggests
common ancestry and vise versa.
5. Plant and animal breeding: organisms that are capable of
producing fertile offspring can be considered as same species.