Unit 4: Evolution

Unit 4: Evolution
4.1. Definition
Evolution is the gradual change of organisms on the earth over long periods,
with new forms replacing old ones.
Evolution is a change in genetic composition of a
population over successive generations which may be
caused by:
• Meiosis
• Hybridization
• Natural selection or
• Mutation
– The theory of evolution describes how the various forms of
life on earth emerge and evolve.
– This leads to a sequence of events by which a population
diverges from other population of the same species and may
lead to the origin of a new species
 Theories of the origin of life
– The origin of life means …the emergence of heritable and
evolvable self-reproduction.
– Two opposing theories that existed a long time were..
i. Intelligent design
• life developed due to a combination of natural forces and the
intervention of a supernatural being.
ii. Creationism
• D/t forms of life on Earth were created by a supreme being.
– The big bang theory of the origin of universe gave new
ideas about the topic of biological evolution.
• It hypothesized: complex life-forms on Earth including human
arose over a period of time from simple bacteria like tiny cells
by a process of self-organization.
 Some theories about the origin of life.
1. Special creationism …
– formation of life on earth may be due to supernatural or
divine forces.
– This always linked to religion; focuses on spiritual matters.
– Less concerned with empirical observable facts and testable
hypotheses.
Scientific thinking
– It describes natural world around us using a means of
observation and empirical testing using instrument.
– No attempt to give opinions about morality or purpose.
– It relies on provable events.
2. Spontaneous generation (abiogenesis)
– some types of organisms could come into being almost
instantly from non-living material.
– Aristotle (384-322) articulates the theory.
– It was once believed that life could come from non-living
things such as:
• Mice from corn
• Flies from bovine manure
• Maggots from rotting meat
• Fish from the mud of previously dry lakes.
Francesco Redi (1668)
– Italian scientist designed a scientific experiment to test the
spontaneous creation of maggot by placing fresh meat in
jars.
– Redi successfully demonstrated that the maggot come from
fly eggs and thereby helped to disprove spontaneous
generation.
 Cont…
John Needham (1713-1781)
– In 1748 the English priest reported his experiments on spontaneous
generation.
– In his experiment he boiled mutton broth (meat of sheep) and then
tightly stoppered the flasks.
– Eventually many of the flasks become cloudy and contained
microorganisms
– He thought organic matter contained a vital force that could confer
the properties of life on non-living matter.
Lazzaro Spallanzani (1729-1799)
– Italian priest and naturalist,improved on Needham‟s experimental
design.
– By first sealing glass flasks that contained water and seeds.
– If sealed flasks were placed in boiling water for ¾ of an hour, no
growth took place as long as the flasks remained sealed.
– He proposed that air carried germs to the culture medium, but also
commented that the external air might be required for growth of
animals.
– The supporters of spontaneous generation maintained that heating
the air in sealed flasks destroyed its ability to support life.
 Cont…
Louis Pasteur
– French scientist showed that broth (wine) went sour if mos were allowed to enter.
– He made a series of flasks with long, twisted necks (“swan-neck” flasks) in which
he boiled broth to sterilize it
– His design allowed air inside the flasks to be exchanged with air from the outside,
but prevented the introduction of any airborne microorganisms, which would get
caught in the twists and bends of the flasks‟ necks.
– If a life force besides the airborne microorganisms were responsible for microbial
growth within the sterilized flasks, it would have access to broth, whereas the
microorganisms would not.
– He correctly predicted that sterilized broth in his swan-neck flasks would remain
sterile as long as the swan necks remained intact.
– However, should the necks be broken, microorganisms would be introduced,
contaminating the flasks and allowing microbial growth within the broth.
– Pasteur‟s set of experiment irrefutably disproved the theory of spontaneous
generation and also articulated “Omne vivum ex vivo” (“life only comes from
life”)
– But what about the first ever cell? Unless we believe that life is
eternal, with no beginning and no end, there had to be a first cell.
It could not have come from a pre-existing cell because it was
the first.
 Cont…
3. Eternity of life
– No beginning and no end to life on earth.
– Neither special creation nor does spontaneous generation.
– Life is an inherent property of the universe and it has always
existed as has the universe.
– Many eminent scientists including Albert Einstein believed in
this.
4. Cosmozoan theory, Panspermia or Spore broth theory
– States that life has reached this planet from other cosmological
structure such as meteorites in the form of highly resistant
spores. This theory was proposed by Richter (1865).
– Protoplasm reached the earth in the form of spore or germs or
other simple particles from some unknown part of the universe
with the cosmic dust (small particles of solid matter found in
outer space, often collected in clouds) and subsequently
evolved into various forms of life
 cosmozoan..
– Richter put forward the … idea that life has always
existed in the Universe where it has propagated itself
from one place to another by means of „cozmozoa‟
(germs of the cosmos).
– 2 other eminent scientists of the time Lord Kelvin and
Herman von Helmholtz – also took the same view.
– In 1908, the Swedish physical chemist Svante
Arrhenius put forward a new version of the
cosmozoan theory, and gave it the name panspermia.
– Arrhenius‟ contribution a new mechanism by which
life could have been transported between planets; he
proposed that bacterial spores were propelled through
an inter-planetary space by radiation pressure.
 5. Biochemical origin
– life on earth originated …as a result of a number of
biochemical reactions producing organic molecules
which associated to form cell.
– Aleksandr Oparin, Russian biologist(1924) and John
Haldane, an English biologist (1929) who independently
put forward almost identical ideas.
– Both believed that organic molecules could be formed from
abiogenic materials in the presence of an energy source such
as Uv radiation and the primitive atmosphere is reducing
(have very low amount of oxygen) and contained ammonia
and water vapour among other gases.
– Both also suspected the first life-forms appeared in the
warm, primitive ocean and were heterotrophic (obtain food
from compound exist in the early earth rather than
autotrophs).
 5. Biochemical origin
– They proposed that: …
• Common gases in the early earth atmosphere combined to
form simple organic chemical.
• These simple organic chemicals combined to form more
complex molecule.
• Then separated from the surrounding medium acquired some
of the characters of living organisms.
• They become able to absorb nutrients, to grow, to divide
(reproduce) and so on.
– Later Miller had apparently approved the Oparin-Haldane
model by mixing the basic elements to produce simple organic
compounds and then combining these to produce the building
blocks of proteins and nucleic acid.
 Cont…
Autotrophs
– produce organic molecules from inorganic material.
– Organisms which create sugars, proteins, lipids, and other materials for life.
– They form the basis for all food chains.
Prokaryotes.
– The first organisms appeared about 4 billion years ago.
– It was assumed that they gave rise to three distinct lines of evolution leading
to:
•Archaebacteria prokaryotes including thermophilic
sulphobacteria, methanobacteria and halophilic bacteria.
•Eubacteria _ prokaryotes; ordinary bacteria and
Cynobacteria (blue-green bacteria and sometimes known as
blue-green algae).
•Eukaryotes_ eventually evolving into protoctistans, fungi,
plants and animals (nearly all are aerobic).
 Cont…
– One great change that affected the evolution of early life forms
was the shift from the reducing atmosphere to an
atmosphere containing oxygen.
– It took place about 2.4 billion years ago.
– The two major types of autotrophs:.
Chemoautotrophs
– energy from a chemical reaction and CO2 as a source of carbon.
– Prokaryotes belonging to Archaea or bacterial domains.
– Chemolithoautotrophs that use ferrous iron, hydrogen sulfide,
elemental sulfur or ammonia as energy source and CO2 as their
carbon source.
Photoautotrophs
– use light energy and inorganic carbon to produce organic
material.
 4.1.2. Theories of evolution
Lamarckism …
– The theory developed by the French biologist Jean-
Baptiste De lamarck(1744-1829).
– organisms passed on to subsequent generations traits
acquired during their lifetime.
– Theory of acquired character or Use and disuse of organ.
– He was explained this theory by using a giraffe
He postulated
A. New Needs
• Change in environment factors like light, temperature, medium,
food, air etc or migration leads to origin of new needs in living
organisms.
• To fulfil these new needs, living organisms have to exert special
efforts like changes in habits or behavior.
 Cont…
B. Use and disuse of organ
– This new habit involves the greater use of certain organ to meet
certain needs, and the disuse or lesser use of certain organs
which are of no use in new conditions.
C. Inheritance of acquired characters
– Favorable acquired characters are inheritable and are transmitted
to offspring.
– Progeny born fit to face the changed environmental conditions
and the chances of their survival are increased.
D. Speciation
– Lamarck believed that in every generation, new characters are
acquired and transmitted to next generation.
– So that new characters accumulate generation after generation.
– After a number of generations, a new species is formed.
 Cont….
Significance of Lamarckism
– It was first comprehensive/ inclusive/ covering many
eventualities theory of biological evolution.
– It nicely explains the existence of vestigial organs in
animals due to their continuous disuse.
• Vestigial organ is organ in animal no longer in use
• Used for studying relatedness among organisms.
– It explains the dev‟t of strong jaw muscles and claws
in the carnivores due to their continued extra use.
– It stimulated other biologists to look for organic
mechanism.
 Cont….
In summary of Lamarckism
→Change in the environment (diminish of grass on land)
→Creates a need for change
→ Desire to change
→ internal vital forces in cells that helps to change
→ creates modification in organs used (neck of giraffe)
→ more used organ become specialized and disused get
reduced (use and disuse)
→this acquired character in an organism life time passed
to progeny(next generation).
 Darwinism (Theory of natural Selection)
• Proposed by Charles Darwin (1809-1882), an
English naturalist.
– He went on a voyage on H.M.S Beagle and
explored South America, the Galapagos Islands
(in Pacific Ocean) and other Islands and made
drawing and collected specimen .
– He was highly influenced by two essays written
• by Alfred Russell Wallace and Charles Lyell.
– Darwin studied the finches on different islands
and noted that there were many similarities b/n
them, as well as obvious differences.
 Darwinism (Theory of natural Selection)
– He concluded that insect eater an „ancestral
finch‟ had colonized the island from the main
land.
– In the absence of predator in the area, they were
able to adapt to different condition on the island
and eventually evolved into different species.
• Some evolved into:
insect eaters (with pointed beaks),
other had evolved into seed eaters with beaks
capable of crushing the seeds.
Cont….
 Basic Postulates of Darwinism
…
• Geometric increases =Fecundity
– All species tend to produce more offspring than can possibly survive.
– However availability of food supply is limited to support this.
• Struggle for existence
– there is an everlasting competition b/n organisms at all levels of life.
• Variation under nature
– No two individuals of a species are exactly similar and they have
some differences.
– These difference are called variations and without this evolution is not
possible
– Variation give rise to new characters and heredity passes them on to
the next generation (inheritance of useful variation).
• Natural selection or survival of the fittest
– Due to struggle for existence and useful heritable variations only those
individuals that survive, show high selective value
– in the course of time they develop various adaptive modifications to
suit the changed condition of life.
– Such selection was called natural selection by Darwin.
 Cont….
Origin of species
– the best fitted and suitable individuals survived and
adjust to the nature.
– As environment is ever changing, further changes
occur in organisms.
– On this way new species appear
Neo-Darwinism theory
– It is modern theory of evolution.
– combines Darwin‟s theory and modern genetics,
especially with regard to variation in populations as a
result of genetic mutations.
– Charles Darwin knew very little of genetics.
 Cont….
– Mendel had not carried out his ground-breaking work on
inheritance at the time Darwin published his book On the
origin of species
– However, we can now incorporate our knowledge of
genes and gene action into the theory of natural selection
to give a better understanding of what drives evolution.
– Genes determine features.
– When we think about how a population might evolve
into a new species, we need to think the gene pool of the
population.
Postulates of Neo-Darwinism are:
– Genetic variability
– Natural selection
– Reproductive Isolation
 4.1.3. The evidence for evolution
[Link]. Comparative anatomy/Morphological
– The strongest form of evidence for evolution.
– the structural similarities of organisms..
– It assumes that organisms with similar anatomical
features are closely related evolutionarily.
Homologous structure
– the same basic anatomy and a common evolutionary
origin but having a different function.
– They indicate an evolutionary relationship and a
common ancestor of the species.
– Example__ forelimb of mammals
– Forelimbs of Human, Whales, Cat and Bats.
Cont….
 Cont…
• Each possesses the same number of bones,
arranged in almost the same way.
• But they have different external features that
function in different ways as:
– Arm for manipulation in humans
– Leg for running in cats
– Flipper for swimming in whale
– Wing for flying in bats.
They show divergent evolution
 Cont…
• By comparing the anatomy of these limbs, scientists have
determined that the basic pattern called pentadactyle
limb (limb with five digits) must have evolved just once
and that all organisms with this kind of limb were
descended from that original type, which they share a
common ancestor.
• Comparative anatomy need to be used carefully as
evidence b/c sometimes organisms have structures
that function in very similar way.
• organisms with homologous structures should be in the
same groups/phyla.
• If the origin is different it is not homologous.
 Cont…
Analogous structures are:
– structures that function in very similar ways.
– but, morphologically and developmentally very
different.
– They cannot indicate that two species share a
common ancestor.
Example:
• Wing of birds, bats and mosquito
• Bird wing has bones inside and is covered
with feather while the mosquito wing has
neither of these.
Cont…
 [Link]. Embryology
Comparative embryology ….
– Studies the way in which the embryos of
vertebrates develop.
– All early embryos of vertebrates are the same
(have embryonic tail which is not developed into a
tail in all species- in humans reduced into
coccyx/tail bone).
– Mammal‟s pharynx has gill slits (it is not a gill but
it connects throat to the outside) in embryonic stage
which contribute to the development of gills. in
fish and larval amphibians.
– This development shows similarities which support
a common ancestry.
Cont…
 [Link]. Palaeontology (Paleontology)
• Paleontology is the study of fossil
• Fossil: the preserved remains or impressions of once-living
organisms.
 Formed when certain remains of organisms or plants get
embedded in the soil or water and are preserved for many
hundreds of years.
• They appear either as skeletal remains, footprints, moulds
or intact structures /not containing any missing part/ as
found in the snow
• It is very important evidence to prove the theory of
evolution and common ancestry.
– We can group fossils into two categories
Category 1:
– The remains of dead animals or plants or the imprint
left from the remains.
 Cont…
• It can be the actual organism or part of an organism,
• Including: bones, teeth, skin impressions, hair,
feather and the hardened shell of ancient
invertebrates (such as trilobites or an ammonite), an
impression of an animals or plants, even if the actual
parts are missing
Example:
– A spider preserved in amber
– Amber is fossilized resin from trees.
– This spider probably become stuck inside the
sticky resin and could not escape
 Cont…
– As the amber became fossilized the spider was
protected from microorganisms and the air which
would have led to its decomposition.

Figure 4.16 A spider preserved in amber.

 Cont…
– In many fossils like this, the soft parts of the body
have been lost, but the exoskeleton is perfectly
preserved.
– In some cases, however, the entire body remains.
Category 2:
– Something that was made by animals while it
was living and that it has hardened into stone
since then; these are called trace fossils and
include:
– Footprints, burrows, coprolite (animal faeces).
 Dating Fossil
– Sedimentary rocks are laid down in layer (strata)
which help to deduce how the organisms have changed
overtime.
• This is called stratigraphy=study of rock strata.
– The oldest strata found at the lower layer.
– The thickness of each stratum is a measure of the time
period during which the stratum was formed.
– Some minerals in rocks and organic matter can contain
radioactive isotopes.
• Radioactive emits energy in the form of stream of
particles owing the decay of its unstable atoms.
• Isotopes are elements with the same atomic number
but different neutron.
 Radiometric dating
– Method of determining age by measuring the abundance
of parent and daughter isotopes.
– The amount of time it takes for half of the parent isotopes
to decay into daughter isotopes is known as the half-life
of the radioactive isotopes.
– Fossil age can be determined using two ways:
1. Absolute dating
– The number of years that have elapsed since the event
occurred or specific time when that event occurred.
2. Relative dating
– Determines the age by analyzing rocks and structures
placed into chronological order, establishing the age of
something as older as or younger than other.
 Cont…
• At time zero, the sample is composed entirely of the radioisotope.
• After one half-life, only 50% of the original radioisotopes remain.
• During each succeeding half-life, half of the remaining radioisotopes is
converted to decay products.
• Scientists actually date the rocks by using one of two techniques.
 Radiocarbon dating or
 Potassium argon dating
• Both rely on the principle that radioactive atoms decay into other atoms over
time.
– Radioactive atom carbon (C14) decay into non radioactive nitrogen atom
(N)- half life time is 5730 years.
– Radioactive potassium atom (K40) into argon atom (A40)- it takes 1.3
million years.
• It is suitable for dating rock millions of years.
• Each has half-life time.
• During this period half of the radioactive atom decay. 100%___50%___25%---
-12.5%
[Link].Comparative Biochemistry
– Organisms that share very similar molecules and biochemical
pathways are closely related.
– DNA and protein (Cytochrome C, haemoglobin) used for this analysis.
– Closely related species are believed to have the most similar DNA and
protein.
– Eg: 98% of our DNA is the same as chimpanzees which confirms that
chimpanzees are the closest relatives of humans `(look Figure 4.21 )
4.1.4. Natural selection: Definition, Types & Examples
– Natural selection is the 'driving force‟ behind evolution.
– It is the process that brings about changes (over time) in populations
that can eventually, lead to different populations of the same species to
become different species.
– Species which are best adapted to their environment:
– Will survive and reproduce in greater numbers than others that are less
well adapted.
– They will pass on their advantageous alleles to their offspring and, in
successive generations.
– The frequency of these alleles will increase in their gene pool.
 Speciation
– Speciation is the formation of new species.
Species
– is a group of similar organisms with a similar
biochemistry, physiology and evolutionary history
that can interbreed to produce fertile offspring.
– all humans are members of the same species, but
belongs to a different species from the chimpanzee.
– So how can there be different types of natural selection?
– All types of natural selection work in the same manner,
but their influence on a population is different.
 Cont…
The different types of natural selection include:
A. Directional selection
– Individuals at one extreme could have a disadvantage
whereas those at the other extreme have an advantage.
For example
– Thicker fur (longer hair) in foxes is an advantage in a cold
climate.
– Thinner fur in foxes is an advantage in a hot climate.
– If the environment were to change so that it became
significantly colder, there would be a selection pressure in
favour of the foxes with long fur and against those with
short fur.
– Over time, selection operates against the disadvantaged
extreme.
– The frequency of the alleles causing longer fur will increase.
 Cont…
B. Stabilizing selection
– Seen in a stable environment.
– both ends are the least well adapted.
– Selection operates against both these extremes
– reduces the variability in the population
– makes the population more uniformly adapted.
C. Disruptive selection
– Is the converse of stabilizing selection.
– both extremes of a range have some advantage.
– the frequency of those individuals at the extremes of
the range will increase over time
– those in the middle of the range will decrease over
time.
 Cont…
Disruptive selection is part of the explanation of the
evolution of Darwin‟s finches.
A finch with an „average‟ length beak may not be able to
obtain insects out of cracks in the bark of trees as well
as one with a longer beak.
It may also not be able to crush seeds as well as one
with a shorter, more powerful beak.
Over time, those with the thinner, longer beaks and
those with the shorter, more powerful beaks will
increase in numbers, whilst those with average length
beaks will decrease in numbers.
Cont…
 Cont….
Antibiotic resistance - a modern example of natural
selection in action
– Bacteria can become resistant to antibiotics through
mutations that alter the cellular targets of antibiotics.
– The acquisition of resistance is a very rare event for
example, resistance mutations usually occur in less
than 1 in a million bacteria.
– However, resistant bacteria can continue to grow and
reproduce under antibiotic treatments that effectively
paralyse or kill their antibiotic susceptible neighbours.
(Figure 4.24) - this is Darwinian natural selection in its
simplest form.
Cont…
 Pattern of evolution
– Evolution over time can follow several different patterns.
– Factors such as environment and predation can have
different effects on the ways in which species evolve.
– There are three main types of evolution: divergent,
convergent, and parallel evolution.
1. Divergent Evolution
– The evolutionary pattern in which two species gradually
become increasingly different.
– This type of evolution often occurs when closely related
species diversify to new habitats.
– On a large scale, divergent evolution is responsible for the
creation of the current diversity of life on earth from the
first living cells.
– On a smaller scale, it is responsible for the evolution of
humans and apes from a common primate ancestor.
 Cont…
2. Convergent Evolution
– takes place when species of different ancestry begin to share
analogous traits because of a shared environment or other
selection pressure.
– For example, whales and fish have some similar characteristics
since both had to evolve methods of moving through the same
medium: water.
3. Parallel Evolution
– Occurs when two species evolve independently of each other,
maintaining the same level of similarity.
– Usually occurs between unrelated species that do not occupy
the same or similar niches in a given habitat.
Cont…
 Types of Speciation
– Natural selection provides a mechanism of
speciation.
– If two populations of a species cannot interbreed to
produce fertile offspring, then we must think of them
as different species.
– There are two main ways of speciation.
1. Allopatric speciation: occurs when a population from
an existing species become geographically isolated and
the isolated population develops into a new species.
2. Sympatric Speciation: is speciation without
becoming geographically isolated from other members
of the original species.
 Cont…
• As long as two populations are able to interbreed, they
are unlikely to evolve into distinct species.
• For two spp to develop, they must somehow go through
a period when they are prevented from interbreeding.
– Both Allopatric and Sympatric speciation involves
isolating mechanisms from interbreeding for a period of
time.
– During this period, mutations that arise in one population
cannot be passed to the other.
– As a result of this, and the different selection pressures in
different environments, genetic differences between the
two populations increase.
– Eventually, the two populations will become so different
that they will be unable to interbreed or they are
'reproductively isolated'.
 What is polyploidy and why is it important in plant evolution?
– Polyploidy occurs when an organism has more
than two sets of homologous chromosomes.
– Polyploid cells have many sets of
chromosomes per cell – sometimes 4 sets,
sometimes 8 or more.
– Some human liver cells have 92 chromosomes
per cell-they are tetraploid and have four sets of
chromosomes per cell.
• Polyploidy has been important in plant evolution
because:
• it has allowed infertile hybrids to become fertile.
 What is polyploidy…
– When different species form hybrids, they cannot
form sex cells so, cannot reproduce.
– If the chromosome number were to double, then
all chromosomes would be able to form
homologous pairs.
– Meiosis and sex-cell formation can take place
and the hybrid is now fertile.
– A new species forms when one portion of a
population can no longer breed and produce
fertile offspring with the rest of the population.
– Polyploidy will result in evolution of plants.
 Reproductive Isolation
– Any interruption in courtship, fertilization, embryo
formation, or offspring development can be a reproductive
barrier.
Reproductive isolating mechanisms:
1. Prezygotic reproductive barriers
– .Prevent fertilization.
– These includes:
i. Ecological (or habitat) isolation:
• A difference in habitat preference can separate two
populations in the same geographic area.
• For example, one species of ladybird beetle eats one type
of plant, while a closely related species eats a different
plant.
• The two species(not different spp) never occur on the same
host plant, although they interbreed freely in the laboratory.
 Cont..
• The different habitat preferences are the reproductive
barrier that keeps the gene pools of the two species
separate.
ii. Temporal isolation:
• Two species that are active at different times of day or
reach reproductive maturity at different times of year.
• i.e Similar species reproduce at different times.
iii. Behavioral isolation:
• This may prevent two closely related species from
mating.
• E.g The males of two species of tree frogs use distinct
calls to attract mates. Female frogs choose males of their own
species
 Cont…
• Likewise, sexual selection in many birds is based on intricate
mating dances
iv. Mechanical Isolation
• Any change in the shape of the gamete-delivering or receiving
structures.
• In plants, male and female do not copulate, but mechanical
barrier still apply.
v. Gametic Isolation
• Gametes of similar species are chemically incompatible.
• i. e A sperm cannot fertilize an egg cell.
Example Sea urchins release sperm and egg cells into the water.
These gametes display unique surface molecules that enable an egg
to recognize sperm of the same species.
2. Postzygotic reproductive barriers

 These prevent viable or fertile offspring formation.

 Individuals of two different species may produce a
hybrid zygote.
 postzygotic reproductive isolation may keep the
species separate by selecting against the hybrid
offspring, effectively preventing genetic exchange
between the populations.
 Collectively, these postzygotic barriers are
sometimes called hybrid incompatibility.
 Postzygotic reproductive barriers include the
following:
 Cont…
i. Hybrid in viability:
– A hybrid embryo or offspring may die before reaching
reproductive maturity, typically because the genes of its
parents are incompatible.
ii. Hybrid breakdown:
– Some species produce hybrid offspring that are fertile.
– When the hybrids reproduce, however, their offspring may
have abnormalities that reduce their fitness.
– Some second-generation hybrid offspring of the
mosquito species Aedes aegypti and Aedes mascarensis,
for example, have abnormal genitalia that make mating
difficult.
cont,d…

– The strong selective pressure against hybrid

offspring limits gene flow between the two
mosquito species.
iii. Hybrid infertility (sterility)
– Some hybrids are infertile.
– example is the mule,
– Mules are infertile because a horse's egg has one
more chromosome than a donkey's sperm cell.
– meiosis does not occur in the mule's germ cells
because the chromosomes are not homologous.
– act after fertilization.
 4.1.5. Human Evolution
Who are we and where have we come from?
– There is often a lot of very loose language used in
describing human evolution.
– You will hear people say:
• 'we evolved from apes' or '
• „We evolved from chimpanzees'.
– None of these statements are accurate.
– There has been a 'line of evolution' for millions of years
that has given rise to old world monkeys, new world
monkeys, the great apes and the different species of
humans that have lived (Figure 4.27).
Cont….
 Cont…
• But, we are Homo sapiens_ the latest of several
humans to live on the planet.
• We have two features in particular that distinguish us
from other primates. These are:
– A very large brain, and
– Bipedalism-the ability to truly walk on just two legs.
• There was a lot of debate amongst biologists as to:
– Which of these came first (Large brain or Bipedalism)? and
– also about exactly how this „evolutionary tree‟ has given
rise to the various groups although they may disagree.
• They all agreed about the idea-a line of evolution that
has branched to give the different groups of primates
(including apes and humans) that exist today has existed
in not too distant past.
The evolutionary tree of humans and the great apes
 Cont…
• Branching points in the evolutionary tree represent
ancestors.
• At these points it is assumed that an ancestral type
became divided into at least two populations which
subsequently evolved along different lines.
• For example, humans and chimpanzees both evolved
from a common ancestor that lived about 6 million
years ago (Figure 4.28).
• There were other humans before us (Homo sapiens)
and, before them, what we might call 'pre-humans'.
• However, all humans belong to the genus Homo.
 Cont…
• Fossils of many of the species along the early
part of the timeline were found in Ethiopia. The
country is therefore, the 'cradle of mankind'.
– Genus (plural genera) a group of closely related
species
– Hominin any member of the genus Homo.
– This includes: Homo sapiens, Neanderthals and
Homo erectus.
– Hominid a group of species that includes all the
species belonging to the genus Homo along with
other species such as Ardipethecus ramidus and
Australopithecus afarensis (Lucy).
 Lucy and Ardi
– Both Lucy and Ardi are important fossils in
explaining the evolution of modern humans and
chimpanzees from a common ancestor.
• Lucy
– Discovered by Donald Johanson and Tom Gray in
1974 at Hadar, Ethiopia.
– a fossil dated at about 3.2 million years.
– She was an adult female of about 25years and
belonged to the species Australopithecus afarensis.
– Her skeleton was about 40% complete,
– Her pelvis, femur (the upper leg bone) and tibia
show that she was bipedal
 cont’d…
– However, there is also evidence that Lucy was partly
arboreal (tree-dwelling).
– She was about 107 cm tall and about 28 kg in weight.
– At the time she was discovered, Lucy represented one
of the oldest fossil hominins.
– The proportions of her humerus and femur were mid-
way between those of modern humans and
chimpanzees.
– Lucy had a brain about the same size as that of a
chimpanzee, so her discovery was able to settle a
debate amongst biologists at the time- which came first,
large brain or Bipedalism?
– Clearly Bipedalism came before big brains.
Cont…
 Cont…
Ardi
– The Ardi fossil was first discovered in 1992, in the Afar
dessert in Ethiopia.
– Female who belonged to the species Ardipethecus ramidus
– She was 1.2 million years older than Lucy.
– She was also bipedal.
– At 4.4 million years old, Ardi is the nearest fossil to the
'common ancestor' of humans and chimpanzees that has so far
been found.
– This finding finally proved that the common ancestor of
humans and chimpanzees could not have resembled a
chimpanzee, as chimpanzees are not truly bipedal.
– However, there was a sign of being adapted for both bipedal
walking and arboreal life
Cont....
 How brain size changed during human evolution?
• During the course of human evolution, the brain has got
bigger.
• anatomy of fossils revealed that the cranial capacity has
increased with each new hominid species evolved (Figure
4.33).
• However, the brain has increased in size as a proportion of
body mass.
• Australopithecus brain is b/n 0.7% and 1.0% of their body
mass.
• Modern humans have a brain size between 1.8% and 2.3%
of their body mass.
• The brain of Homo sapiens uses 25% of the resting energy
requirement, compared with 8% in the great apes.
Cont…
 Cont...
• A larger brain allows humans to:
– run faster and in a more upright posture
– plan in advance to avoid attack
– develop and use tools and weapons.
• These abilities clearly depend on other physical
adaptations such as
– longer legs,
– more nimble fingers and
– a straighter spine,
But, without the larger brain to co-ordinate the
activities; the physical changes would not confer the
same advantage.
 Are we still evolving?
• Homo sapiens first appeared in Africa and have since migrated to
all other part of the world.
 Cont...
• As humans moved from Africa into different areas of the
world, they encountered different environments.
• Different selection pressures in the different environments
resulted in the different human populations evolving along
different lines.
• For example, as humans encountered colder climates, body
features that gave a survival advantage to conserve heat were
selected for.
• These included:
– a shorter, squatter body shape- reduces the SA/V and so
reduces the rate of heat loss by radiation
– an increased layer of adipose tissue under the skin to act
as insulator.
– increased hairiness; this reduces heat loss by convection.
 Cont...
• Humans have been evolving into different 'races' for thousands of years.
• The classification of these races is difficult and there is some
disagreement about their exact nature.
– African (Negroid), 100 million people from Africa and Melanesians
of the South Pacific.
– Eurasian (Caucasoid), 1000 million people with variable skin
colour ranging from white to dark brown.
– East Asian (Mongoloid), most numerous of the present-day
populations and split into three groups:
• Ethiopia plays a central role in the story of human evolution.
 4.1.6. Mutation
• Mutation is a random change in genetic information.
• It can be caused by several factors but is divided into two parts.
– Spontaneous mutation_ cause of mutation cannot be identified.
– Induced mutation_ the agent that caused the mutation can be identified.
• Substances that cause mutations are
– Radiation
– X-ray
– Ultra-violet radiation
– Nuclear radiation and certain chemical substances.
• These agents can also be called mutagenic agents or mutagens.
• Mutation is a change that can involving
– The whole chromosomes or parts of chromosomes, or
– Only a single base.
• The changes involving only a single base are called point
mutations.
 Point Mutation
– One of the bases in the DNA sequence of a gene is
altered, usually by being copied wrongly when the DNA
replicates.
– The different point mutations are:
• Substitution
• Addition
• Deletions
– These mutations:
• Occur quite randomly when the DNA is replicating.
• Each involves a change to just one base (nucleotide).
• But, the change to the gene can be dramatic and the result can
be that the protein the gene should code for is not made at all
or different protein is made.
• This type of mutation is usually less serious than a
chromosomal alteration
Description of point mutation
The genetic code
 Cont...
Substitution
– Only one base/nucleotide is replaced by another and
no other triplet is affected.
 Cont...
– As shown in the above figure guanine replaces
thymine in this substitution.
– The triplet ATT has been changed to ATG (no other
triplet is affected)
– The original, ATT, codes for the amino acid
isoleucine.
– However, the mutated, ATG, codes for methionine.
– As a result, a different protein will be synthesized,
which may or may not be significantly different
from the original.
– One different amino acid in a protein does not
always make a functional change.
 Cont...
– If a substitution of just one base in the sixth triplet of the gene
coding for one of the four polypeptides in the haemoglobin
molecule alters the triplet from GAG to GTG.
– It results in the amino acid valine replacing glutamate in the
polypeptide chain.
– The different haemoglobin molecule formed results in the
condition known as sickle-cell anaemia.
Cont...
 Addition and deletion
– In a deletion mutation, a base (one DNA nucleotide) is „missed
out‟ during replication, whereas in additions, an extra base is
added.
– Both are more significant mutations than substitutions.
– The reason for this is that they do not just alter the triplet in
which the mutation occurs.
– Because there is one fewer or one extra base, the whole
sequence after the point of the mutation is altered.
– We say that there has been a frame shift and these are frame
shift mutations.
– In frame shift mutation:
• Totally different mRNA is produced
• Non-functional protein or no protein at all. Sometimes, a whole triplet is
missed out or inserted.
• This will result in either one extra or one fewer codon in the mRNA.
• In turn, this will lead to one extra or fewer amino acid in the polypeptide
chain.
Types of point mutation
What causes point mutations and what are the consequences of gene mutations?

What causes point mutations?

• Mutations are rare events.
• each cell contains six billion base pairs that might mutate!
• Biologists estimate that mutations arise at the rate of 1 in 50 ×109
(one in fifty million) base pairs.
• This means that each new cell will have, on average, 120
mutations. But.:
• most of these mistakes (mutations) are detected and repaired,
• because 95% of our DNA is non-coding, most mutations are
unlikely to affect coding genes.
• The rate of mutation can be increased by a number of factors
including:
• carcinogenic chemicals, for example, those in tobacco smoke
• high-energy radiation, for example, ultraviolet radiation, X-rays
 What are the consequences of gene mutations?
– Mutations that occur in a normal body cell (a non-
sex cell) will have one of four possible
consequences:
• It will be completely harmless.
• It will damage the cell.
• It will kill the cell.
• It will make the cell cancerous, which might kill
the person.
– This type of mutation will not be passed on to the
next generation.
– Mutation that occurs in a sex cell, or a cell that will
divide to give rise to a sex cell, may be passed on to
the next generation.
 Cont...
• Mutations in two types of genes are very important.
• Genes called proto-oncogenes and tumour
suppressor genes play important roles in regulating
cell division and preventing the formation of a tumour.
– When proto-oncogenes mutate, they often become active
oncogenes, which stimulate the cell to divide in an
uncontrolled manner.
– Ordinarily, some growth factor would be necessary to make
the cell divide.
– Tumour suppressor genes recognise uncontrolled cell
division and act to suppress cell division.
– If these genes mutate and become inactive, a tumour will
form as uncontrolled cell division continues.
How a tumour starts
 Can mutations benefit an organism?
– Mutations produce harmful effects, but mutations
are also the raw material of evolution.
– It is the only process that creates new genes.
– Crossing over, segregation and random
assortment in meiosis together with random
fusion in fertilisation reshuffle existing genetic
material, but only mutation produces new genetic
material.
– If a mutated allele gives an organism an advantage
then Natural Selection will act so that frequency of
that allele increases with successive generations.
 Chromosomal Mutation
– Mutation involving a long segment of DNA.
– occurs when there is any change in the arrangement
or structure of the chromosomes.
– Occur most often during meiosis at crossing over in
prophase I.
– There are several different mutation types such as
duplication, deletion, inversion and translocation.
– They are much bigger events than point mutations
and usually result in the death of a cell.
– They may also affect the whole organism. For
example, if essential parts of the DNA are affected
by chromosomal mutations, a foetus may be aborted.
Types of chromosomal mutation
 Types of Chromosomal Mutations
– Most chromosomal mutations are either
chromosomal mutations I or chromosomal mutations II.
A. Chromosomal mutations I
– Alter the structure of the chromosome since they tend to
break and these pieces often form sticky ends.
– involve the processes of inversion, deletion,
duplication/amplification or translocation
Inversion
– its segments are reversed from end to end.
– A piece of the chromosome is removed then reattached but
in the opposite direction than it was originally.
– When this does not include the center or the centromere of
the chromosome, it is called paracentric inversion.
– When the inversion does include the centromere, it is
pericentric.
 Deletion
– Also known as partial monosomies, these
occur when a piece of a chromosome
accidentally gets removed or deleted.
– There can be cases
• One piece deleted at the end (terminal
deletion),
• Two deletions-one deleted within the
chromosome, and one on the end
(interstitial deletion).
• Micro deletions also occur when the deletions
in the chromosomes are too small to be
detected.
 Cont…
Duplication/Amplifications
– An extra copy of a segment or the entire
chromosome is present in the nucleus.
– These are also known as partial trisomies.
– Often an organism that usually has two
copies of a chromosome will have three in
the case of duplication.
– This can happen anywhere along the
chromosome whether in the middle or on
the ends.
 Translocation
– Translocation chromosomal mutation follows the route of
biological translocation.
– This happens when a segment of a chromosome breaks off and
then relocates to a completely different chromosome.
– This creates fusion chromosomes as one type of chromosome
fuses with another.
• Reciprocal translocation occurs when pieces of chromosomes
“swap” places.
• Robertsonian translocation occurs when a segment of a chromosome
is attached to another chromosome, causing an elongation of it.
– These can be balanced or unbalance.
• Balanced where the chromosome is fully functional with no missing
genetic information.
• Unbalanced_ with important missing pieces and cannot function as
normal (unbalanced).
– The translocation of chromosome 21 onto the 14th
chromosome causes the common genetic mutation of Down
syndrome.
 Cont…
B. Chromosomal Mutations II
– It consists of aneuploidy and polyploidy.
– The general category of these is called
heteroploidy since they cause a mutation by
changing the number of chromosomes present in
the cell.
Aneuploidy
• This mutation either causes the loss or addition of a
chromosome by the contortion of the chromosome set.
• Non-disjunction during meiosis or mitosis usually
results in this mutation.
Polyploidy
• This mutation causes the creation of two sets of
genomes within an organism.
• It is not usually common naturally however, it can be
observed in some plants.
• It usually causes effects like giantism and the reduction
of fertility.
 3. The Advantages of chromosomal Mutation

• In some cases, chromosomal mutations can

benefit the organisms
Survival
• Some mutations can help the organisms to survive
better than others.
• For example
– Lactose tolerant becomes more advantageous over
the others.
– There are cases around the world where
chromosomal mutations have resulted in immunity
to HIV, resistance to malaria and physical
advantages such as the height mutation in
Ecuadorian tribes.
 Cont...

Diversity
– Allowing humans
to become more
diverse in their
appearance.
– Hair colour, eye
colour beauty
spots and other
features caused
by these genetic
mutations all
promote variation
among human
race.
4. The disadvantage of chromosomal mutation
– On the other hand, chromosomal mutations can be dangerous
and even detrimental to the life of living organisms.
Genetic Disorder
– These are specific disorders or disabilities caused by mutations
within the organism's DNA.
– These can be small genetic issues that may barely affect the
individual or larger issues that may bring major concerns to the
individual.
– A chromosomal disorders list can be seen below:
• Trisomy 21: Down syndrome
• Trisomy 18
• Trisomy 13
• Klinefelter Syndrome
• XYY Syndrome
• Turner Syndrome
• Triple X Syndrome
 Trisomy 21: Down syndrome
Trisomy
– A medical term for having an extra copy of a
chromosome.
– Down syndrome is also referred to as trisomy
21.
 Cont…
• Some common physical features of Down syndrome
– A flattened face, especially the bridge of the nose.
– Almond-shaped eyes that slant up
– Short neck
– Small ear
– A tongue that tends to stick out of the mouth
– Tiny white spots on the iris of the eye.
– Small hands and feet
– Small pinky fingers that sometimes curve towards the
thumb.
Cont…
 Trisomy 18: Edwards Syndrome
• It is a disorder in which babies are born with 3 copies of
chromosome 18 instead of 2.
• For an unknown reason, this condition occurs at the time
of conception and all cells in the body will have this
structure.
• Life expectancy for children with Edwards syndrome is
short due to several life-threating complications of the
condition.
 Trisomy 13: Patau Syndrome
• It is severe chromosomal condition with multiple
malformations due to an additional copy of all or part of
chromosome 13.
• The cause for this additional copy is unknown.
• Physical features- small head, cleft lip …….
Klinefelter’s Syndrome(XXY syndrome)
– It is a condition where boys and men are born
with an extra X chromosome.
– The additional X chromosome occurs as a
result of eiither the mother’s egg or father’s
sperm having the extra X chromosome.
– After conception the chromosome pattern is
XXY rather than XY.
– Many boys and men with XXY syndrome will
not be significantly affected and can live
normal, healthy lives.
– In others infertility and slightly increased risk
of developing other health problems.
 XYY Syndrome
• Extra copy of the Y chromosome in each of an
individual’s cells.
• Read features of individual with XYY Syndrome
 Turner Syndrome
• A condition that affects only females, result when one of
the X chromosome is missing or partially missing.
• Cause a variety of medical and developmental problems,
including short height, failure of the ovaries to develop
and heart defect.
 Triple X Syndrome (trisomy X)
• A female with triple X chromosome in each
cell rather than two.
• Female with trisomy X being taller than
average height.
 4.1.7. Genetic Drift
What is genetic drift?
– It is a mechanism of evolution in which allele
frequencies of a population change over
generations due to chance events.
– Genetic drift is change due to sampling error in
selecting the alleles for the next generation from
the gene pool of the current generation.
– Allele frequencies can change due to chance
alone. This is called genetic drift.
– Genetic drift is random change in gene frequency.
– Drift is a binomial sampling error of the gene pool.
What this means is, the alleles that form the next
generation's gene pool are a sample of the alleles
from the current generation. When sampled from
a population, the frequency of alleles differs
slightly due to chance alone.
 Cont…
• Alleles can increase or decrease in frequency due to drift.
• The average expected change in allele frequency is zero,
since increasing or decreasing in frequency is equally
probable.
• A small percentage of alleles may continually change
frequency in a single direction for several generations just as
flipping a fair coin may, on occasion, result in a string of heads
or tails.
• A very few new mutant alleles can drift to fixation in this
manner.
• The variance in the rate of change of allele frequencies is
greater in small populations than in large populations. Let's
make the idea of drift more concrete by looking at an
example. As shown in Figure 4.39, we have a very small
rabbit population that's made up of 8 brown individuals
(genotype BB or Bb) and 2 white individuals (genotype bb).
 Cont…
• Initially, the frequencies of the B and b alleles are equal. What if,
purely by chance, only the 5 circled
• The allele frequencies of the five lucky rabbits are perfectly
represented in the second generation.
• Because the 5-rabbit "sample" in the previous generation had
different allele frequencies than the population as a whole, the
frequencies population as a whole, the frequencies of B and b in the
population have shifted to 0.7 and 0.3 respectively.
• From this second generation, what if only two of the BB offspring
survive and reproduce to yield the third generation? In this series of
events, by the third generation, the b allele is completely lost from
the population.
• However, the overall rate of genetic drift is independent of
population size.
• If the mutation rate is constant, large and small populations lose
alleles to drift at the same rate.
• This is because large populations will have more genes in the gene
pool but loose slowly.
• Smaller populations will have fewer alleles, but these will quickly
cycle through.
 Cont…
Hardy-Weinberg Equilibrium
– At Hardy-Weinberg Equilibrium, Allele Frequencies
Do Not Change
– The study of population genetics relies on the intimate
relationship between allele frequencies and genotype
frequencies.
– Each genotype's frequency is the number of
individuals with that genotype, divided by the total
size of the population.
– For example, if 64 of the 100 individuals in a
population are homozygous recessive, then the
frequency of that genotype is 64/100, or 0.64.
– Hardy-Weinberg equilibrium is the highly unlikely
situation in which allele frequencies and genotype
frequencies do not change from one generation to the
next.
 Cont…
• It occurs only in populations that meet the following
assumptions:
– (1) Natural selection does not occur;
– (2) Mutations do not occur, so no new alleles arise;
– (3) The population is infinitely large, or at least large
enough to eliminate random changes in allele frequencies;
– (4) Individuals mate at random; and
– (5) Individuals do not migrate into or out of the population.
• Hardy-Weinberg equilibrium is named after mathematician
Godfrey H. Hardy and physician Wilhelm Weinberg.
• They independently developed two simple equations
that represent the relationship between allele
frequencies and genotype frequencies.
• To understand their logic, begin by assuming that a
gene has only two possible alleles, with frequencies p
and q.
 Cont…
• The first equation represents the frequencies of both alleles in the
population:
• The two frequencies add up to 1 because the two alleles represent
all the possibilities in the population.
• For example, the frequency of the dark fur allele (D) is 0.6;the
frequency of the alternative allele d, which confers tan fur, is
0.4.(Tally the D and d alleles in the picture of the ferrets to verify
these numbers.)
• At Hardy-Weinberg equilibrium, we can use allele frequencies to
calculate genotype frequencies
• p2 + 2pq + q2 = 1
• In this equation, the proportion of the population with genotype
• DD equals p2(0.36 for our ferrets)
• dd equals q2 (0.16).
• Heterozygous class, multiply pq by 2 (0.48).
• Since the homozygote and the heterozygotes account for all
possible genotypes, the sum of their frequencies must add up to 1.
• At Hardy-Weinberg equilibrium, allele frequencies remain constant
from one generation to the next; evolution does not occur.”
 The genetic bottleneck effect
• The bottleneck effect is an extreme example of genetic drift that
happens when the size of a population is severely reduced.
– Events like natural disasters (earthquakes, floods, fires) can
decimate a population
– killing most individuals and leaving behind a small,
– random assortment of survivors.
• The allele frequencies prior to the natural disasters may be very
different from those of the population after the event, and some
alleles may be missing entirely.
• The smaller population will also be more susceptible to the
effects of genetic drift for generations (until its numbers return to
normal), potentially causing even more alleles to be lost.
• Imagine a bottle filled with marbles, which represent individuals
in a population.
• If a bottleneck event occurs, a small, random assortment of
individuals survives the event and passes through the bottleneck
(and into the cup), while the vast majority of the population is
killed off (remains in the bottle).
 Cont…
• The genetic composition of the random survivors (Figure
4.40) is now the genetic composition of the entire
population.
• A population bottleneck yields a limited and random
assortment of individuals.
• This small population will now be under the influence of
genetic drift for several generations.
 Cont…
The founder effect
– The founder effect is another extreme example of genetic
drift that occurs when a small group of individuals breaks
off from a larger population to establish a colony (Figure
4.41).
– The new colony is isolated from the original population,
and the founding individuals may not represent the full
genetic diversity of the original population.
– That is, alleles in the founding population may be present
at different frequencies than in the original population, and
some alleles may be missing altogether.
– The small size of the new colonies means that they will
experience strong genetic drift for generations.
– The founder effect is similar in concept to the bottleneck
effect, but it occurs via a different mechanism(colonization
rather than catastrophe).
Cont…
4.1.8. Gene flow (immigration and emigration)
– Gene flow also called migration-is any movement of
individuals, and/or the genetic material they carry from one
population to another.
– Gene flow includes lots of different kinds of events, such as
pollen being blown to a new destination or people moving
to new cities or countries.
– If gene versions are carried to a population where those gene
versions previously did not exist, gene flow can be a very
important source of genetic variation.
– Gene flow is any movement of individuals, and/or the
genetic material they carry, from one population to another.
– Migration: the permanent movement of genes into or out of
a population, causing a change in allele frequency.
Gene flow (immigration and emigration
– Immigration is when new organisms join a population, changing allele
frequencies.
– Emigration is when members of a population leave, taking with them
their genes.
– These phenomena change the overall balance of the gene pool of the
populations.
– Gene transfer is the flow of alleles from one species to another.
Horizontal gene transfer is especially common in bacteria.
 4.1.9. Causes of species extinction

• Evidence suggests that anthropogenic effects and

natural disaster played significant role for the direct and
indirect causes of species extinction.