Genetics and

Evolution:
Evolution of Genetic
systems
Presented by
Muhammad Mueez; Ayesha Irfan; Afifa
Maryum; Rimsha Qaisar; Turaab Haider

Department of Allied Health Sciences

University of Health Sciences, Lahore
27th september, 2023
• Table of contents
Beginning of Uniqueness and
01 Life 05 Evolution of life

02 06 Genome
Origin of Genome and
Evolution
First Biochemical Acquiring the
03 System 07 Genes
First DNA Evolution of Non
04 08
Genome Significance Of
coding Genome
09 Evolutionary
Introduction
Evolutionary genetics is the
study of how genetic variation
leads to evolutionary change. It
includes topics such as the
evolution of genome structure,
the genetic basis of speciation
and adaptation, and genetic
change in response to selection
within populations.
 Begininng of
 Birth of The Universe -14 billion
Life
years ago – Big bang.
 Our galaxy came into existence 4.6
billion years ago
 The early Earth was covered with
water and it was in this vast
planetary ocean
 The first biochemical systems
appeared, some 3.5 billion years
ago
 Cellular life was a relatively late
stage in biochemical evolution,
being preceded by self-replicating
polynucleotides that were the
progenitors of the first genomes.
Origin of genome
o The oxygen content of the
atmosphere remained very low
until photosynthesis evolved,
methane and ammonia were
most abundant.
o Electrical discharges in a
methane-ammonia mixture
result in chemical synthesis of a
range of amino acids
The First Biochemical Systems

• Polymerization of the building blocks

into biomolecules might have occurred
• In the Oceans
• Waters in the clouds (condensation)
• Solid surface ( On clay particles )
• Hyperthermal vents
• Exact mechanism not known.
●Progress was initially stalled by the apparent
requirement that polynucleotides and
polypeptides must work in harness in order to
produce a self-reproducing biochemical
system.
●In the mid-1980s when it was discovered that
RNA can have catalytic activity. Ribozymes
have following properties
●Self cleavages
●Other mRNA cleavages
●Synthesis of peptide bonds
●The discovery of these catalytic properties
solved the polynucleotide-polypeptide dilemma
by showing that the first biochemical
systems could have been centered entirely on
The First DNA Genomes
 The first major change was probably the development
of protein enzymes replaced, most of the catalytic
activities of ribozymes

 The RNA protogenomes became coding molecules

whose main function was to specify the construction
of the catalytic proteins

 First DNA genomes comprised many separate

molecules, each specifying a single protein and each
therefore equivalent to a single gene
The First DNA Genomes
Uniqueness of Life
 Initial stages in biochemical evolution occurred many
times in parallel in the oceans or atmosphere of the
early Earth.
 Life arose on more than one occasion, even though
all present-day organisms appear to derive from a
single origin.
 This single origin is indicated by the remarkable
similarity between the basic molecular biological and
biochemical mechanisms in bacterial, archaeal and
eukaryotic cells. i.e. Genetic Code is not universal but
virtually similar in all species.
 Fossil record gave reasonably convincing evidence that
by 3.5 billion Evolution of Life
years ago biochemical systems had
evolved into cells similar in appearance to modern
bacteria.
 Made of double-stranded DNA and consisted of a small
number of chromosomes, possibly just one, each
containing many linked genes.
 we see the first evidence for eukaryotic cells - structures
resembling single-celled algae - about 1.4 billion years
ago, and the first multicellular algae by 0.9 billion years
ago. Multicellular animals appeared around 640 million
years ago.
 The first terrestrial insects, animals and plants were
established by 350 million years ago, the dinosaurs had
been and gone by the end of the Cretaceous, 65 million
years ago, and the first hominoids appeared a mere 4.5
million years ago.
 Evolution and Genome
●Morphological evolution was accompanied by genome
evolution
● As we move up the evolutionary tree we see
increasingly complex genomes. One indication of this
complexity is gene number, which varies from less
than 1000 in some bacteria to 30 000–40 000 in
vertebrates such as humans.
●Increase in gene number has not occurred in a
gradual fashion instead two sudden bursts when
gene numbers increased dramatically
●The first of these expansions occurred when eukaryotes
appeared about 1.4 billion years ago.
●The second expansion is associated with the first
vertebrates
 Acquiring the
Genes
There are two ways in which
new genes could be acquired
by a genome:

1. By duplicating some or all of

the existing genes in the
genome
2. By acquiring genes from
other species
Duplication
s
The duplication of existing genes is almost certainly
the most important process for the generation of new
genes during genome evolution. There are several
ways in which it could occur:
 By duplication of the entire genome;
 By duplication of a single chromosome or part of a
chromosome;
 By duplication of a single gene or group of genes.
 Duplication of individual human chromosomes
The most rapid means of increasing gene number is
by duplicating the entire genome( During miosis)
Example: Globin gene, trypsin and chymotrypsin
gene
 Gene duplication is not always followed by
Mutations
Mutations due to lack of DNA Repair mechanisms,
Less efficiency, Spontaneous mutations, radiations
 Point mutations
 Frame shift
 Duplications/ Deletions
The mutations that accumulate within a gene copy do
not lead to inactivation of the gene, but instead result
in a new gene function that is useful to the organism.
the commonest inactivating mutations are
frameshifts and nonsense mutations that occur within
the coding region of the gene, with mutations of the
initiation codon and TATA box being less frequent.
 Acquisition of New
Genes from other
Species
Bacterial and archaeal genome sequences suggests that
lateral gene transfer has been a major event in the
evolution of prokaryotic genomes.
 It can be through
Infection
Transformation
Plasmids
Conjugation
Jumping genes(Transposons)
 In Animals, instead of lateral gene transfer, these
similarities are thought to result from conservation during
millions of years of parallel evolution. Retroviruses are
Evolution in Non-coding Genome
some parts of the non-coding DNA, for example the
regulatory regions upstream of genes, have
important functions, but as far as most of the non-
coding DNA is concerned, all we can say is that it
evolves in an apparently random fashion
Transposable Elements
 Transposons has the ability to initiate recombination
events that lead to genome rearrangements,
between same or different chromosomes.
Some time it can be beneficial leading to
development of new characters or even new species.
While in some events it lead to deletion of character
or even extinction of species.
The origins of introns
 Introns were first discovered in the 1970s their origins have been
debated. The problems surround the origins of the GU-AG introns, the
ones that are found in large numbers in eukaryotic nuclear genomes.

“Introns early” and “introns late”

 A number of proposals for the origins of GU-AG introns have been put
forward but the debate is generally considered to be between two
opposing hypotheses:
 Introns early states that introns are very ancient and are gradually
being lost from eukaryotic genomes.
 Introns late states that introns evolved relatively recently and are
gradually accumulating in eukaryotic genomes.
 The current
evidence disproves
neither hypothesis
When a larger number of species was
examined the positions of the introns in
this gene became less easy to interpret: it
appeared that introns had been lost in
some lineages but gained in others.

This scenario fits both ‘introns early’ and

‘introns late’ as both allow for the loss,
gain or repositioning of introns by
recombination events occurring in
individual lineages.
 Significance of Evolation of
Genome
 Understanding Biodiversity
 Explaining Adaptations
 Human Evolution
 Medicine
 Conservation of sequences and pattern
 Phylogenetic
Thank
You 