•INTRODUCTION:

 In simpler terms, Evolutionary Genetics is the study to understand how genetic

variation leads to evolutionary change.
 Evolutionary Genetics attempts to account for evolution in terms of changes in
gene and genotype frequencies within populations and the processes
that convert the variation with populations into more or less
permanent variation between species.
 The central challenge of Evolutionary Genetics is to describe how the
evolutionary forces shape the patterns of biodiversity.
 Evolutionary Genetics majorly deals with;
a.Evolution of genome structure
b.The genetic basis of speciation and adaptation
c. Genetic change in response to selection within populations
•There are several theories describing the possible causes for
evolution. FOUR theories to be understood are as follows;
1.Lamarckism
2.Darwinism
3.Mutation theory
4.Neo Darwinism/Synthetic Theory
Lamarkism
 The first general theory of evolution was outlined in 1802
and reported in 1809 by a Frenchman, Jean Baptiste de
Lamarck (1744-1829).

 Lamarck proposed the theory of „inheritance of acquired

characters ‟ or also popularly known as Lamarckism„

 The important point in Lamarckism is that, the

environment affects the shape and organization of animals
•THEO RY O F INHERITANCE O F ACQUIRED CHARACTERISTICS

1)Internal Vital Force: Living organisms and their component parts tend to increase
continually in size.
2)Use and Disuse of Organs: If an organ is used constantly, it tends to become
enlarged, whereas lack of use results in degeneration.
3)Effect of Environment and New Needs: Production of a new organ results from a
new need and from the new movements which this need starts and maintains.
4)Inheritance of Acquired Characters: Modification produced by the above principles
during the lifetime of an individual will be inherited by its offspring, with the
result that changes are cumulative over a period of time.
•Examples:
a. Long neck of giraffe
b. Disappearance of limbs in snakes
c. Webbed feet of ducks
d. Cave Dwellers
•EVIDENCES JUSTIFYING LAMARCKISM
1. Effect of Change of Environment: Radish is a two-year crop in cold countries but
completes its growth in one year in tropical areas.
2. Effect of Chemicals: Change in the secretion of hormones results in the change of
different parts of the body.
3. Regeneration of organ reported in animals.

•CRITICISM OF LAMARCKISM
1. There is no vital force extracted in organisms, which increases their body parts
2. The environment can affect the animal, but it is doubtful that new needs develop new
structures or organs.
3. The use and disuse of the organs is correct up to some extent only.
4. Mendel‟s Laws of Inheritance and Weismann ‟s Theory of Continuity of Germplasm (1892)

•The inheritance of acquired characters is disputed. Therefore, Lamarck ‟s concept - The

inheritance of acquired characters was discarded.
•KEY POINTS OF LAMARCKISM
 Frequent or continuous use develops and enlarges any organ.
 While by permanent disuse it weakens until it finally disappears all acquisitions or
losses wrought through influence of the environment.
 Hence, through use and disuse, are preserved by reproduction
. DARWINISM
 Charles Darwin was a British naturalist,
proposed the theory of biological evolution
by natural selection.
 The theory of evolution by natural selection,
first formulated in Darwin's book "On the
Origin of Species" in 1859.
 Darwin defined evolution as "descent
with modification," the idea that species
change over time, give rise to new species and
share a common ancestor.
 The ship HMS Beagle (1831 -1836) - theory
of
Darwin’s finches.
 Darwin clearly saw the importance of selection on a prime evolutionary force in the natural
world. He cited many examples of adaptation through selection.
 Darwin found that competition listed among all living things envisioned that struggle for
existence might be means by which the well adapted individuals survive and ill adjusted are
eliminated.

•The Main Points of Darwin’s Theory of Evolution

•1. OVER PRODUCTION:
 Every species in the absence of environmental checks tend to increase.
 Most species produce far more offspring than are needed to maintain the
population.
 Species populations remain more or less constant (“stable”) because a small fraction
of offspring live long enough to reproduce.
 In a given geographical area, if a population of a particular species doubles in one year and if
there is no check on its increasing population. It will quadruple in the next year and so on.
 A great reproductive potential of various species could be observed in nature.
 In case, if all the offsprings of any species remained alive and reproduced. They will soon
crowd all the other species on this planet.
2. COMPETITION ( Struggle for existence)
 The increase in birth rate of offsprings leads to struggle for survival, Competition for food, space and mates.
 Living space and food are limited, so offspring from each generation must compete among themselves in order to
live.
 This competition could continue as act of kill or to be killed.
 Only a small fraction can possibly survive long enough to reproduce.

3. VARIATION
 Variation is the characteristic of animals and plants. There are many ways in which an organism can differ.
 Characteristics in individuals in any species are not exactly alike.
 Ex: Differences for Homo sapiens (humans) can be exact size or shape of body, strength in running, or
resistance to disease.
 These differences are considered to be the variations within a species.

•NOTE: Darwin and Wallace did not understand the cause of variation. They assumed it was innate property of living
things. Now, we are aware that inherited variations are resulted from mutation or recombination.

4. ADAPTATION (Survival of Fittest)

 An adaptation is an inherited trait that increases an organisms‟ chance of survival and reproduction in a
given environment.
 The consequent elimination of unfit makes it easier for survival of rest of the population.
 The idea of Survival of Fittest is the core of the theory of Natural Selection.
4. SELECTION
 Darwin realized that perceptual selection existed in nature in the form of Natural selection.
 Natural selection is a continuous process in a gigantic scale of screening for all the living
matter.
 Nature/environment selects living organisms with better suited inherited traits to survive
and reproduce.
 Offspring inherit these better traits, and as a whole the population improves for that
particular environment
 Natural selection depends on the environment, acts on existing heritable variation.

5. SPECIATION
 Over many generations, favorable adaptations (in a particular environment) gradually
accumulate in species.
 The selected organisms will give rise next generation. In this way, the variation s
successfully transmitted to the succeeding generation.
 The operation of Natural selection over many genes might produce descends which differ
from their ancestors.
 Eventually, accumulated changes become so great; the result is a new species.
 In this way, two or more species may arise from single ancestral stock
• The simplified evolutionary mechanism as proposed by Darwin.
• Reproduction will tend to leave more offspring than their peers,
causing the traits to increase in frequency over generations.
• Resources are limited in nature
• Organisms with heritable selective traits are favored for survival.
• Causes populations to become adapted, or increasingly
well-suited, to their environments over time.
• Changes that allow an organism to better adapt to its environment
will be selected.
• Organisms change over time as a result of changes in heritable
physical or behavioral traits resulting in speciation.
MUTATION
 A Dutch botanist, HUGO DE VRIES worked on the plant,
evening primrose.
 Oenothera lamarckiana
 According to Hugo De Vries, New species are not formed by
continuous variations, but by sudden appearance of
variations, which he named as mutations.
•Hugo de Vries experiment on Oenothera lamarckiana
 O. Lamarckian (evening primrose) was self-pollinated and its seeds were allowed to
grow, majority of F1 plants were similar to the parents, but a few were different
plants.
 The different plants were also self-pollinated and when their seeds were sown, the
majority of the plants were similar to the parents while a few were still more different
plants and this continued generation after generation.
 These plants appeared to be new species; Hugo de Vries suggested from his
experiments that new types of inherited characteristics may appear suddenly without
any previous indication of their presence in the race.
 A new type much longer than the original type was obtained “O. gigas”
 He concluded that, evolution is a discontinuous and jerky process, occurs by
mutation.
•According to Hugo De Vries,
 Hugo de Vries states that, Mutations are heritable and persist in successive generations.
 Mutations are random and directionless while Darwin‟s variations are small and directional.
 According to Darwin evolution is gradual while Hugo de Vries believed that mutation caused species
formation and hence known as saltation (single step large mutation).

•SALIENT FEATURES OF MUTATION THEORY

1. Mutations or discontinuous variations are the raw material of evolution.
2. Mutations appear all of a sudden. They become operational immediately.
3. The same type of mutations can appear in a number of individuals of a species.
4. Mutations are inheritable.
5. Mutations appear in all conceivable directions.
6. Useful mutations are selected by nature. Lethal mutations are eliminated.
However, useless and less harmful ones can persist in the progeny.
7. Accumulation of variations produces new species. Sometimes a new species is produced
from a single mutation.
8. Evolution is a jerky and discontinuous process.
A4. NEO-DARWINISM / SYNTHETIC
THEORY OF NATURAL SELECTION
 Darwin‟s theory of natural selection was accepted.
 The strong supporters of Darwinism were Wallace, Huxley, Haeckel, and Weismann.
 Darwin‟s theory lacked an input of modern concepts of genetics and the
mechanisms how characters appear and persist in a population.
 In the light of recent researches the theory was modified. Several
experimental evidences have gone in favor of Darwinism.
 Based on those facts and statistical data a synthetic theory of evolution
was proposed.
 This is modified theory of Darwinism. This is called Neo-Darwinism.
 The Synthetic theory emerged by the synthesis of the original idea given by
Charles Darwin and addition of new knowledge of genetics, population dynamics,
statistics, and heredity to the theory
•According to Neo-Darwinism the following factors operate for the formation of new species.
1. Variations
2. Mutations
3. Natural selection
4. Genetic drift
5. Isolation of species.

•Over production, struggle for existence and universal occurrence of variation will take place as
usual. But in the synthetic theory the formation of variations and mutations were discussed with
experimental evidence for evolution which Darwin was unable to explain
1. VARIATIONS:
 During Darwin‟s time little was known about genetic variations (During Meiosis and
crossing over synapsis will take place, resulting in regrouping of genes. Because of
which genetic variation will appear in offsprings)
 The exchange of chromosomal segments between two chromosomes will result in
aberrations, will become heritable variations.
 The sets of chromosomes will increases or decrease. This is called ploidy. Because of
this polyploidy heritable variations will arise they will be carried to number of
generations.
 This may result in the origin of new species.

2. MUTATIONS:
 Any change in the nucleotide sequence of DNA and if one pair of nucleotides is
replaced mutations will arise. These mutations are called point mutations.
 These are caused spontaneously in nature. They can also be brought by induction of
mutagens (Mustard gas, x-rays, gamma rays, electric shocks, temperature shocks).
 These mutations are rare, sudden and heritable. They may be harmful or beneficial.
Because of these sudden mutations new species are formed.
3. NATURAL SELECTION:
 Natural selection includes aft forces both physical and biotic factors and determine how and in what
direction an organism is to change.
 Natural selection has no favoritism. But it is obvious that the organisms which are suited for
environmental conditions will survive over power in the force of competition. Because of this
better survivors are retained in the nature.

4. GENETIC DRIFT:
 Genetic drift is a mechanism of evolution in which allele frequencies of a population
change over generations due to chance (sampling error).
 Genetic drift occurs in all populations of non-infinite size, but its effects are strongest
in small populations.
 Genetic drift may result in the loss of some alleles (including beneficial ones) and
the fixation, or rise to 100%100%100, percent frequency, of other alleles.
 Genetic drift can have major effects when a population is sharply reduced in size by
a natural disaster (bottleneck effect) or when a small group splits off from the main
population to found a colony (founder effect).
 Unlike natural selection, genetic drift does not depend on an allele’s beneficial
or harmful effects. Instead, drift changes allele frequencies purely by chance, as
random subsets of individuals (and the gametes of those individuals) are sampled to
produce the next generation
 •A5. EVOLUTION AT MOLECULAR LEVEL: NUCLEOTIDE SEQUENCE MOLECULAR
EVOLUTION
 Molecular evolution is a basic process of changes in DNA & RNA nucleotide sequence
• by substitution of 1 nucleotide to another during evolutionary time.
 Molecular evolution is commonly reported by point mutation i.e., base substitution. The base
substitution is extremely slow process, takes millions of years for base change and its selection.
 Genome sequencing is used for reconstructing the phylogenetic tree to understand the
evolutionary history. It is also used for molecular evolutionary studies in
formulating/estimating the rate of evolution.

•RATE OF MOLECULAR EVOLUTION

 We have to compare the sample DNA nucleotide sequence to common ancestor DNA i.e., to
compare 2 sequences that have decent from the common ancestor.
 If any sequence of length (N) differ from each other at „n‟ site, then the proportions of difference 𝑛
is referred as the Degree of Divergence (haemming distance)
•MOLECULAR EVOLUTIONMUTATIONS
•Mutation in nucleotide evolution can be off 2 types;
1.Synonymous mutation: Synonymous mutation is the mutation that changes
nucleotide sequence, but results in production of same amino acid, due to
degeneracy property of genetic code. Therefore, Structure or function protein
remains unaltered.
2.Non-synonymous mutation: Non-synonymous mutation is the mutation that
• changes nucleotide sequence, such that nucleotide sequence codes different
amino acid. Thus, alters the protein structure and function.

 Therefore, it‟s important to account the number of synonymous and non-

synonymous base substitution.
 Rate of nucleotide evolution in coding will be different from non-coding region.
 Therefore, we must check which region in genome sequence is used for
evolutionary studies.
• PHYLOGENETIC TREE
• Phylogenetic tree or evolutionary tree is also called DENDROGRAM. It is a
graphical diagram showing the evolutionary relationships of the group of
organisms which originated from common ancestral form (i.e., the history of an
organism lineages as they change through the time). It implies that different
species have aroused from common ancestors, which are connected by
passage of genes along the branches of the phylogenetic tree

• A phylogenetic tree (evolutionary tree) is the graphical

representation of the evolutionary history of biological
sequences and allows us to visualize the evolutionary
relationships between them..
These trees are displayed as two-
dimensional diagrams, with branching
lines representing the evolutionary
history and relatedness of different
groups of organisms. The endpoints of
the branches represent present-day
species or sequences and are referred
to as taxa or operational taxonomic
units (OTUs). The connecting point
where two branches come together is
called a node, and it represents an
inferred common ancestor of the
organisms or sequences connected to
the branches. The point where the tree
divides into two parts at the bottom is
known as the root node, and it
represents the common ancestor of all
the members of the tree
On the basis of the presence or absence of a
common root
• Rooted trees are trees that have a specified root node,
which represents the common ancestor of all the
organisms in the tree.
• Unrooted trees do not have a specified root node and
show only the branching pattern of the evolutionary
relationships among taxa or OTUs, without any
information about their common ancestor.
On the basis of topology
• Cladogram is a type of phylogenetic tree that displays
only the branching pattern of evolutionary relationships
among organisms. Cladograms are unscaled, which
means that the branch lengths do not reflect the
amount of evolutionary divergence between taxa or
operational taxonomic units (OTUs).
• Phylogram is a type of phylogenetic tree that
represents the evolutionary relationships among
organisms by showing both the branching pattern and
the amount of evolutionary divergence. Phylograms are
scaled, which means that the branch lengths are
proportional to the amount of evolutionary divergence.