Genes and Evolution

Genes and evolution
nucleic acids
nucleic acids: chromosomes
Genes and evolution 1

Double stranded helical DNA is wrapped around proteins called histones. This complex of
DNA and histones is called a nucleosome.
Sets of nucleosomes are referred to as chromatin.
This chromatin coils and folds into

chromosomes, in humans there are 23 chromosomes.
changing allele frequencies: overview
Combinations of proteins contribute to certain traits of an organism

→Things like height, eye colour and blood type.
Variations in traits across a population are due to differences in genes. These variations in
the same genes are called alleles. Genes that have variations are said to be polymorphic.
The combinations of alleles present in an individual’s genome (all the genetic material)
constitute their genotype, the set of all alleles in an organism. The alleles can be
dominant or recessive, meaning that different combinations of the genes will result in
different traits.
The genotype and the environment together determine the phenotype type. That is the set
of all observable traits of on organism.

changing allele frequencies
The allele frequency is a value that represents how common a particle allele is in the
gene pool of a population. A high value means that that allele is very common in a
population.
The allele frequency can be changed in various ways including…

Mutations that cause new alleles to arise.
Environmental pressures that can make certain alleles more beneficial for organisms.
changing allele frequencies: Mutation
Genetic variation between genes, causing new alleles to arise, are caused by mutations.
Mutations are changes in DNA (nucleotide sequence).
Mutations can occur

→Naturally as a result of DNA replication
→ Artificially as a result of exposure to a mutagen
(a substance that causes mutations).
Mutations can be neutral, beneficial or harmful in their effect on the survival of an

organism. Mutations may occur on a small scale, singular nucleotides, or on a larger
scale ,affecting whole sections of chromosomes.
changing allele frequencies: Mutation
Mutations in somatic cells (cells other than those involved in reproduction) can only
affect that organism. Sometimes called somatic mutations.

Mutations in germline cells (cells that area a part of reproduction, like gametes) can
affect the progeny of the organism. Sometimes called germline mutations. This can be
how new alleles enter the gene pool.
changing allele frequencies: Mutations
DNA consists of a sequence of nitrogenous bases that are read in groups of three, called
triplets (codons in RNA).
Mutations that involve the addition,

subtraction or changing of a single
nucleotide in a sequence are called
point mutations.
changing allele frequencies: Mutations
Substitution mutations are point mutations that involves a nucleotide in a DNA

sequence being changed for another. These can be further classified as…
Silent mutations: a mutations that does not alter the amino acid when the codons are
translated.

Missense mutations: a mutations that results in a different amino acid when codons are
translated.
Nonsense mutations: a mutations that results in a stop codon forming causing the
premature termination of translation.
changing allele frequencies: Frameshift Mutations
Frameshift mutations are another type

of point mutations that involve that the
insertion or deletion of a nucleotide in a
DNA sequence.
These mutations have a large effect on

the gene as they can ‘push’ the entire
triplet sequence forwards or backwards.
This may change many amino acids all
at once leading to a large change in the
functionality of the protein.
changing allele frequencies: Point mutations

changing allele frequencies: Block Mutations
Where point mutations affect

nucleotide sequence, block mutations
are those that affect large sections of a
chromosome (disruption of many
genes).
They can arise from processes in

meiosis (crossing over and
recombination) or from exposure to a
mutagens.
Like point mutations there many

different types.
changing allele frequencies: Block Mutations

Duplication mutations involve genes
being duplicated during DNA
replication. This results in multiple
copies of the same genes being present
on the chromosome, which increases
gene expression.
Deletion mutations involve genes

being deleted or removed from a
chromosome. This means no gene
expression can occur. This is often
fatal.
Inversion mutations occur when a

chromosome section or entire genes
breaks off, flips 180° and is reattached
to another section of the chromosome.
Translocation mutations occur when

entire chromosomes break apart and are
reattached to different chromosome
sections forming usually entirely new
chromosomes.
Insertion mutations occur when a section of the chromosome breaks off and is
reattached to another chromosome.

A variety of teeth types and shapes

process of evolution: introduction:
Evolution is the change in the genetic material of an organisms overtime.
It may start with changes in the allele frequency of genes within a population.
It may end with a population, over many generations, developing major changes in their
genetics and perhaps evolving into a new species.
process of evolution: what is a species?
A species is defined as a group of organisms that can mate and reproduce viable
offspring. Offspring are deemed viable if the offspring can further reproduce their own
offspring.
This definition is referred to as the biological species concept (BSC).
process of evolution: what is a species?
Some organisms may be able to reproduce, but, as their offspring cannot then they are
still classified as different species.

process of evolution: what is a species ?
There are some issues with the BSC. For example…

→The definition does not work for organisms that reproduce asexually, such as bacteria
→There is evidence of organisms of different species breeding and producing viable
offspring, such as Homo sapiens and Homo neanderthals
→Some similar species have interbred in captivity but never in nature
→Some hybrid organisms can be fertile, such as the case of particular plant species
The BSC is a good definition for species some most organisms but not all. This is a good
example of evolving scientific understanding.
the genome is the set of all genes within an organism, the gene pool is the set of all
genes within a population
The number of different alleles will change over time within the gene pool due natural
and artificial factors
These genes control traits and determine the genotype and phenotype diversity within the
population.

Species can also be thought of in terms of their gene pools.
In this way a species’ gene pool is

completely isolated and no new genes
can enter the gene pool. As no different
species can interbreed with a
population of a different species, no
new genes can get passed into the gene
pool.
They are said to be genetically isolated.

Populations can become isolated in
different ways.
process of evolution: Changes in allele frequency
The alleles in the gene pool can change. If organisms from another population come and
interbreed with an existing population, then new alleles can be passed onto progeny and
enter the gene pool. This is called gene flow.

The allele frequency of genes may also change to random events (deaths, organisms not
reproducing, natural events). This change in allele frequency is called genetic drift.
Genetic drift affects smaller population more so than larger populations.
As the population has dramatically

reduced so to does the genetic diversity.
This can reduce the fitness of the
overall population as many
advantageous alleles may be lost.
Another type of genetic drift is the bottleneck effect. This effect involves natural events
(floods, fires, earthquakes) causing a dramatic reduction in a population.
Another type of genetic drift is the founder effect. This effect involves a small subset of a
population beginning a new population in a separate area.
This likely leads to a lower genetic diversity in the new population as there are less genes
existing in the smaller founding population.
process of evolution: selective breeding
Selective breeding or artificial selection refers to the process whereby the ‘mates’ within
a breeding pair are chosen by humans. This allows certain traits, and subsequent alleles,

to be chosen for, increasing their frequency in a gene pool.
Alternatively certain genes may be selected against, and organisms possessing those
alleles may be excluded from breeding.
process of evolution: isolating mechanisms
Isolating mechanisms are conditions that prevent organisms in a population from

interbreeding with organisms from other populations.
Prezygotic mechanisms are those that stop a zygotes from forming. Some examples of
these prezygotic isolating mechanisms include…
→ Geographical: where a physical barrier like a mountain range or ocean separates two
populations.
→ Temporal: the breeding times/seasons of two populations do not overlap preventing
interbreeding.
→ Behavioural: the populations do not interbreed because their mating behaviours are not
reflected by other populations.
→ Structural/morphological: the populations reproductive organs cannot physically
facilitate intercourse.
Postzygotic isolating mechanisms are those that occur after a successful zygote has been
created. These mechanisms prevent the zygote from forming fertile offspring.

This often occurs because of hybrid infertility, where the number of chromosomes (2n) is
uneven leading to unsuccessful zygote development.
For example…
→ Mules = male donkey + female horse
→ Hinny = female donkey + male horse
→ Zonys = zebra + donkey
→ Liger / Tigons = Lion + tiger
Sexual selection refers to organisms

choosing a mate based upon certain
behavioural traits of that organisms
of a species. For example
Female bowerbirds choose a mate

based upon how impressive their
bower (nesting spot is)
Male seals will fight for the right

to mate with a large group of seals.
Only the fittest and healthiest seals
win and earn the right to
reproduce.
Many male birds use dances and

impressive physical features
https://www.youtube.com/watch?
v=rX40mBb8bkU
process of evolution: Natural Selection
Natural selection describes the process in which organisms survive and reproduce
because of advantageous phenotypes. These organisms are more biologically fit as they
are well adapted to their environment, meaning they are likely to survive and reproduce.
Organisms that are less biologically fit are selected against, meaning they are less likely
to survive and pass on their traits to future populations. Alleles that encode these less

advantageous traits become less common in the population’s gene pool overtime as
natural selection occurs.
process of evolution: speciation
Natural selection is the basis of evolution and speciation as the genetics within a
population change overtime.
Speciation is the evolution process in

which a new species arises from a
common ancestral species.
Allopatric speciation is a kind of

speciation that occurs in populations
that have been separated by a
geographic barrier. The barrier prevents
interbreeding between the population
and other organisms of the same
species. This leads to each species
experiencing different selection
pressures.
Process of evolution : Variation
It’s important to understand before speciation occurs that organisms in a population

never look exactly the same.
There is always natural variation. This refers to the fact that multiple alleles exist,
leading to slight differences in phenotypes and traits observed in a population. Variation
may be heritable, that is it can be passed onto offspring.

process of evolution: Selection pressures:
Once a population is isolated from others of the same species they will then begin to be
exposed to different selection pressures. Selection pressures are aspects of an
environment that affects an organisms ability to survive and reproduce. The availability
of food, abundance of predators and environmental conditions (eg. temperature) all affect
an organisms chance of survival. Selection pressures are what drive natural selection.
process of evolution: Natural selection

Alleles that encode for advantageous
traits are selected for by selection
pressures (like predation). The trait
increases chance of surviving and
reproducing.
Over successive generations the trait

becomes more common as more
organism survive and pass it onto their
offspring. The allele frequency of that
allele increases.
This process of selection pressures

increasing the survivability of more
well adapted organisms is natural
selection in action.
process of evolution speciation
The isolation of differing species in allopatric speciation begins with a geographic

barriers (mountain range, river ect.). These barriers prevent the populations from
interbreeding, thus the now separated populations are said to be reproductively isolated
(no interbreeding can occur).
These changes in allele frequencies caused by different selection pressures may

eventually lead to larger genetic changes and morphological changes. This takes many
generations to occur.
Eventually after these genetic and morphological changes have occurred the two
populations may no longer be able to interbreed with each other. At this point they can be
classified as a new species.

process of evolution: speciation
To summarise, allopatric speciation is the evolution of a new species from a common

ancestor through geographical isolation.
It requires…
→ A population of interbreeding organisms that vary in heritable traits.
→ A geographical barrier that isolates a subset of the population. The population is
reproductively isolated.
→ Differing selection factors make different traits advantageous and make certain
organisms in the population more biologically fit.
→ Over generations of the organisms the allele frequencies steadily change.
→ Large genetic and morphological change between the species that prevents the two
populations of interbreeding.
Process of evolution: Allopatric finches
Darwin’s finches are a classic biological examples of this mechanism for evolution. An
ancestral finch is thought to have come from central or south America to the Galapagos

archipelago (group of islands). Due to the differing environments of the islands each of the
subsequent finches began experiencing different selection pressures. Specifically due to
differences in the foods available on each island in the archipelago each finch beak phenotype
was selected differently in each finch population.
Process of evolution: Symparic palms
Sympatric speciation involves the evolution of new species from a parent population
within he same geographical location. It often occurs when other selection pressures or
genetic abnormalities affect the new individuals within a population.
Howea palms are an example of this. Located on Lord Howe Island off the coast of
Tasmania, these palms (Howea forsteriana) are thought to have speciated from the parent
population (Howea belmoreana) after growing in volcanic soil which is more alkaline
(basic).
pH differences within the soil on the island began selecting for certain physiological
differences between the populations. This led to changes in flowering times within the
plants, which is a form of prezygotic reproductive isolation, which is then hypothesized
to have led to speciation.

process of evolution: Charles Darwin

Evolution of a new species through
natural selection leading is referred to
as Darwinian theory. Darwin published
this theory in 1859 in a book called
“On the Origin of Species”.
His work was in part based on his

observations from a trip (on the HMS
Beagle) to the Galapagos islands.
process of evolution:
Evolution that involves new species evolving from a parent population is called
divergent evolution.
The term adaptive radiation is used to describe the rapid evolution of new species in an
environment. This occurs when a sudden wide change occurs in the environment.
Darwin’s finches are an example of this. As small groups of the finches spread through
the islands (founder effect) they rapidly adapted to the diverse food sources. This led to
the adaptive radiation of many new finch species.

Evidence for evolution: Representing relatedness

Phylogenetic trees are representations
of the evolutionary relationships
between species and their common
ancestors.
The trees represent the evolutionary

relationships of different species.
Branches suggest that species diverged
from a common ancestor. Shortened
branches may suggest a species is
extinct.
The more closely related a species is to another the closer they will be and the more
recently they will share a common ancestor.
Evidence for evolution: Representing relatedness
to create phylogenetic tree, you must first assess the common traits amongst the species
that you are going to organise
The most common trait shared between the species is forms the first dividing branch of
the tree.
The groups of organisms (or taxa) are then sequentially separated based on if they
share morphological, developmental, or genetic traits. The further away species are on
the tree, the less related they are.

Evidence for evolution: The lumpers
Before advancements in
technology, evolutionary biologists
used morphology (body structures and
shapes) to classify organisms. They
also used this as a basis of relatedness
(how related two species were).
Organisms that were similar in

their morphology were more likely to
be related (share a common ancestor)
than those that did not.
Evidence for evolution: Divergent evolution
The process of evolution (allopatric speciation driven by natural selection) that has
been described so far is an example of divergent evolution. That is, the evolution of two
new species from a common ancestor species. This evolution leads to homologous
structures.
Evidence for evolution: Divergent evolution

• Homologous structures are anatomical body parts that have many different purposes,
but similar structures as they arises from organisms with a common ancestor.
Evidence for evolution: Convergent evolution
Convergent evolution refers to the evolution of development of similar features

(analogous features) in unrelated species due to similar selection pressures. If two
unrelated species experience similar selection pressures than over time the frequencies of
alleles controlling similar traits will increase. Leading to the species appearing more
similar.
Evidence for evolution: convergent evolution
• The evolution of analogous structures is caused by less related organisms experiencing

shared selection pressures overtime (convergent evolution). These structures have the same
function.

Evidence for evolution: Types of evolution:
Evidence for evolution: Relatedness

It is easy to see how species of a genus
are related due to their shared
similarities. Similarities
between organisms arise due to their
inherent ‘relatedness’.
Species can be organized into

relatedness by systematically analysing
their similarities, in terms of their
genetics, development, biogeography
and morphology.
Evidence for evolution : Morphology
One way in which to describe

relatedness between species is looking
at their morphology, that is their form
and structure. This analysis is called
comparative morphology or
comparative anatomy.
Species typically have some

overall similarity between them in
terms of their structure. This
occurs to them evolving from the
same common ancestor. Closely
related organisms will likely share
homologous structures, indicating
the short time since they
diverged from a recent ancestor.
Evidence for evolution morphology

Where homologous structures show similarities between species that have diverged
recently, analogous structures show similarities between those more distantly related
species that have converged.
Analogous structures are those bones, organs or systems that show relatedness in
unrelated species that have evolved under similar selection pressures. Analogous
structures tell us that the more distantly related species evolved under the similar
selection pressures.
Evidence for evolution Morphology
Some species possess features that have little or no function at all. These structures are
called vestigial structures.
These occur when organisms retain

features that were advantageous for an
ancestor but not them, though there
is no pressure selecting against them.
In humans, vestigial structures include the coccyx (remnant of a tail), the wisdom
teeth (remnant of ancestors with large jaws) and ear muscles (remnants of ancestors who
could move their ears).
Evidence of evolution: Earth’s History

Evidence of evolution and changes in
Earth’s biodiversity may also be seen
within the Earth itself. The history of
the earth, in terms of both
appearances of species and the events,
can be analysed by looking the
sedimentary layers of rock.
The premise of this dating technique is

that older rock layers will have
deposited first and will be on
the bottom of a layered section of the
earth. Younger layers will be higher in
the layers.
These layers are called strata.
Evidence for evolution
Fossils are the preserved remains,

traces or impressions of an organisms.
The law of fossil succession uses this

idea of stratigraphy to say that fossils
found in lower strata must be older than
those found higher.
The fossil record refers to the total

number of organisms that have been
discovered. This contributes to the
understanding of what organisms
existed and when throughout history.
evidence for evolution fossilization
The process in which fossils form is called fossilization. The chance of becoming
fossilized after death is small.

Soft-bodied organisms are less likely to fossilize as they are often too soft to leave
imprints within their enjoinments. Hard and shelled organisms and those with skeletons
are more likely to fossilize after death.
Organisms in aquatic environments are more likely to become fossils as they are more
like to be buried under the running water. This will likely lead to sediments being
deposited over them over time.
Evidence for evolution: Dating fossils
Unlike your relatives love life,

understanding how to date a fossil is
quite important in terms
of understanding its evolutionary
relationships..
Relative dating is the qualitative

dating that occurs using stratigraphy.
This means is two fossils
are discovered, the one that was buried
deeper within the earth is deemed older.
Ancestral species would be expected to
be found lower in the strata than
more modern relatives.
Evidence for evolution: Index fossils

Index fossils refer to fossils of organisms that are widespread across a region or the
world. The index fossil species are typically short lived during specific times.
Their presence is useful as scientist can use them to quickly relatively define the age of
an organism.
Evidence for evolution: Transitional fossils
Transitional fossils are the remains of species of organisms that are thought to have
existed ‘between’ ancestral and modern species. They often show traits or looks as
though they are halfway between the ancestor and the modern species.
They provide insight into the environments and pressures that these population
experienced and provide unique insight into the species evolution.
On the right are fossils remains of the modern whale (d) and its terrestrial ancestor (a).
(b) and (c) could be considered transitional fossils.

Evidence for evolution: Dating fossils
Absolute dating is a quantitate dating measure that can be used to give a more exact
estimate of the age of the fossil.
Absolute dating might use radioactive isotopes with known half-lives (radiometric
dating). By analysing the ratio of elements in the fossil you can determine how
many half lives a fossil has existed for.
For example, if a fossil originally had 10g of Carbon-14 in it, and it is discovered to now
only have 2.5 grams we can roughly work out the age of the fossil.
10/ 2=5 , 5/2=2.5 thus it has undergone two half-lives.
If the half-life of Carbon-14 is

5730 years, then the fossil will
be around 11,460 years old.

Evidence for evolution: Geologic time
scales
• Continental changes within the
earth happened over long periods of
time. These time scales are important
in putting evolutionary events
into perspective. The time scales that make
up the Earth’s history are split up into
many sections. Below is a short summary
of some key dates in the evolution of life
on this planet.
Evidence for evolution: Molecular homology

Molecular homology is an approach
to classifying organism and
understanding relatedness based on the
similarities in molecules present
between different species.
Organisms that are more closely related will have more similarities in their DNA,
RNA, protein then organisms that are more distantly related. More closely
related organisms share a more recent common ancestor.
Evidence for evolution: Geologic time scales

• Continental changes within the earth happened over long periods of time. These time scales
are important in putting evolutionary events into perspective. The time scales that make
up the Earth’s history are split up into many sections. Below is a short summary of some key
dates in the evolution of life on this planet.

Evidence for evolution: Molecular homology
When species begin to diverge, they will accumulate mutations and differences in
their nucleotide sequence of shared genes over time. Sequences that are highly
similar between species are referred to as conserved sequences.
More closely related species or new species that have recently diverged, should
have very similar DNA / RNA sequences to their common ancestors.

human evolution
Defining humans: primate characteristics
Homo sapiens Latin for our species,

translating to ‘wise man’. They are
mammalian chordates.
Homo sapiens belong to the

mammalian class and are classified
mammals. These organisms all share
the following
A single lower jawbone
Three small bones in their middle ear

aiding their hearing
Some amount of hair or fur
Mammary glands that enable their to

produce breast milk for their offspring
Defining humans: Primate characteristics
Homo sapiens belong to the primate order as they have
3D colour and front facing binocular vision
Many touch receptors in their fingers and hands aiding in touch

Prehensile hands and feet with five opposable digits to help grasp
A large cranial volume for their body mass
Flexible spines, hips and shoulders aiding in complex movement
Defining humans: Hominoid characteristics
Hominoids are superfamily within the primate order that encompass the great and lesser
apes.
Hominids are a part of the Hominidae family, these include humans, gorillas and
chimpanzees (humans and great apes).
Gibbons are lesser apes (smaller, don’t make nests and less sexual
dimorphism). Monkeys, in general, is any of nearly 200 species of tailed primates, except
for lemurs, tarsiers and lorises.
Defining humans: Hominoid characteristics
The key characteristics of hominoids include
Larger and complex brains
Shorter spines to assist in sitting and standing upright
Lack of a tail helping them sit upright
Distinctive molar teeth in lower jaw with 5 cup shape
Longer arms than legs (except in Homo sapiens), shoulder blades that sit further back
and shoulder joints that allow arms to swing behind their head

Name of group (
Shared characteristics Examples of organisms
Classification group)
whales, dog, cats and bars as

- mammary glands, -some fur, - warm blood, -
Mammals (class) well as farm animals such as
they give birth to live young
sheep, pigs and horses,
- 3D colour vision, - a large number of

sensitive touch receptors in their fingertips to
Primates (order) help primates use their hands to gather baboons, gorillas, lemurs
information, - a large cranium relative to body
weight.
- increased cranium size. - longer arms than

legs ( except homo sapiens), - broader rib great apes ( chimpanzees,
Hominoid (family)
cage, and pelvis, - lack of tail enabling them to gorillas and humans
sit up right
- communication and formation of complex all members of the genus

Hominin (tribe) social groups, - bipedalism, (walk direct on Homo ( which we are the
our hind legs for sustained periods of time) only living members
Defining Humans: Hominin History
Hominins are human-like animals that are characterized as walking upright. They are
the ancestors of modern man. The genus homo includes all ancestors of modern humans
and other species that are closely related. The key characteristic is our ability to walk on

our hind legs, otherwise known as bipedalism. This is the key characteristic that
separates us from our hominoid, primate and mammal ancestors.
Defining Humans: Homo History
Homo sapiens have been around for

approximately 200 000 years, with
genetic and fossil evidence suggesting
our species began in Africa (the oldest
fossils of our species were found
in Omo Kibish in Ethiopia).
There are many different species within

the homo genus.
defining Humans: Physical characteristics
Homo sapiens specially have the following shared traits when compared to other
hominins
Are bipedal (walk on two feet)
Are typically leaner and more agile than our Homo predecessors
Have a narrower and deeper pelvis than our ancestors
Have a large cranium with the back of the skulls being rounded
Smaller brow ridge and face, with squarer eye sockets
Shorter jaws with protruding chin

Smaller teeth , particularly incisor and canine
Have a more central foramen magnum
Defining humans:
Physical differences
General differences between hominin species include…
Earlier Hominins were shorter and had longer limbs. These were good for surviving in
tropical regions to help with body cooling. We evolved more ‘stocky’ build to adapt
to more cooler climates
The ratio of limb size (arm-leg) has also gotten smaller. Australopithecus had arms
much closer to the length of their legs, whereas we have much shorter arms. This is
characteristic of so-called ‘knuckle walkers’ or our less bipedal and more
quadruped ancestors.

Defining Humans : What’s Trending
Defining humans: Stand up straight and listen!
Bipedalism refers to the movement of an organism on two hind limbs or

legs. Bipedalism has many advantages over other forms of locomotion (four
limbed movement).

It frees up front limbs for use (climbing, fighting, using tools)
Allows for higher line of sight, allowing organisms to see further
Upward stance reduces exposer to sunlight, enabling easier thermoregulation
Generally more efficient than previous four limb movement, allowing bipeds to
conserve energy
Trends in primate and hominin fossils that show our gradual move to bipedalism include
The development of an S-shaped spine from straighter spine, this lowers the centre of
gravity and makes upright movement more efficient
The pelvis bones have become shorter and more bowl-like over time. This provides the
body on top of it more support as the bipedal motion means more force is applied on top
of the pelvis. The pelvis also become more narrow and round in the birth canal to
accommodate for the enlarged heads of the homo Sapien offspring.
Leg bones have become longer to aid in taking longer strides. This is more energy
efficient and lessens the strain the body's muscles.
Arm bones became shorter as now need for longer arms that allow us to swing between
the tree lessened. This led to an overall reduction in the arm to leg ratio (mathematical
comparison of the length of each limb). Additionally, these arms didn’t need to be longer
as they were not being ‘walked’ on like our knuckle-walking ancestors. This freed our
arms up to use tools and carry offspring.

Another piece of evidence showing the
move from four legs to two is the
movement of the foramen magnum.
The foramen magnum is the hole in the
base of the skull that connects to the
spinal cord.
This hole has gradually moved forward

into the middle of the skull, as the
spinal cord moves below and support
the head.
Defining Humans: Use Your Head

Many changes in the human skull have
occurred overtime. These correspond to
changes in our diet and an enlarging
cranium. A larger cranium, means a larger
brain, which may mean higher
order intelligence.
The human skull has
a high forehead and dome shape
reduced brow ridge
Squarer eye sockets
Larger cranial volume
lacks a sagittal crest
flatter features and more projecting

chin
These shapes differ in other hominids and primates. The general trends observed include:
Increased cranial volume
Increased rounding of the back of the skull (less nuchal crest)
Reduction in the sagittal crest
Flatter faces and smaller brow ridges
Squarer eye sockets
More projecting chin

There is much debate on what exactly caused the increase in cranial volume within
hominins.
One more popular explanation as to what may have driven these changes is that changes
in diet, mainly consuming more fruits animal products, and the use of fire enabling
cooking, enabled increased brain growth as the nutrients our ancestors received then
increased in diversity and quality.
With an increase in volume so to did the complexity of our brains. The cerebrum of
hominins specifically evolved to become much more folded, increasing the number of
active neurons and connections between brain cells and parts of the brain. This enabled
the species to develop more complex thought, emotions, problem solving, planning and
decision making.

Defining Humans: The fossil record
The fossil record has played an important role in enabling us to learn about Homo sapien
evolution. The size/shape and geographical distribution of these bones has allowed us to learn
about how our species evolved and how it spread across the world.
Despite the array of fossils within the record there are still many questions to be answered
about our evolution. It’s important to consider the facts and the limitations of relying solely
on the fossil record when seeking to answer these questions.

Defining Humans: Neanderthals
Who are the Neanderthals? Did we breed with them?
Homo neanderthalensis or the Neanderthals

appeared around 400 000 years ago and
went extinct 25 000 years ago. They lived
in Europe and parts of Asia. They are our
closest Homo relatives. They had larger
craniums than humans but a less developed
larynx. They showed evidence of culture, in
the form of ritualistic burials. They used fire
and shelter.

Neanderthals were so closely related, and thought to have interbred with Homo sapiens.
Approximately 1-4% of the mtDNA of non-African Homo sapiens is shared with
Neanderthals. This suggests interbreeding occurring between the species after Homo
sapiens left Africa.
Fossil evidence of Neanderthals and Homo sapiens tells us a story of two distinct species
living across Europe and Asia and the same time. But it is genetic evidence,
specially mtDNA analysis, that has led to the discovery that the two species were likely to
have interbred.
Defining Humans: Out of Africa
The Out of Africa theory states that Homo erectus left Africa and isolated populations
evolved into other homo species (neanderthalensis and heidelbergensis). Homo sapiens
themselves evolved in Africa and then migrated out of Africa and across the world.
Fossil evidence that supports this includes that the oldest fossils of homo sapiens have been
found in Africa.

Defining humans: Multiregional
evolution
The multiregional theory states

that Homo erectus groups migrated out
of and across Africa extensively into
Asia and Europe for around 1.8 million
years. Despite isolation there was
sufficient interbreeding to allow the
archaic homo groups to concurrently
evolve into modern day Homo sapiens.
This evolution occurred across the
world.
Fossil evidence for this theory is that many modern humans share similarities with
extinct homo species in the same region.
Complete the table below in your notebooks
Theory Evidence for Evidence against
Fossil evidence that

supports this
includes that the - why dont all homo sapiens
Out of Africa hypothesis
oldest fossils of have the same features
homo sapiens have
been found in Africa
fossil evidence for

this theory is that
many modern
- how did we all evolve to when
Multiregional hypothesis humans share similar
we are all isolated
similarities with
extinct homo species
in the same region


Genes and Evolution

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Genes and evolution

nucleic acids: chromosomes

Genes and evolution 1

Sets of nucleosomes are referred to as chromatin.

This chromatin coils and folds into

changing allele frequencies: overview

Combinations of proteins contribute to certain traits of an organism

Genes and evolution 2

The allele frequency can be changed in various ways including…

changing allele frequencies: Mutation

Mutations can occur

Mutations can be neutral, beneficial or harmful in their effect on the survival of an

changing allele frequencies: Mutation

Genes and evolution 3

changing allele frequencies: Mutations

Mutations that involve the addition,

changing allele frequencies: Mutations

Substitution mutations are point mutations that involves a nucleotide in a DNA

Genes and evolution 4

changing allele frequencies: Frameshift Mutations

Frameshift mutations are another type

These mutations have a large effect on

changing allele frequencies: Point mutations

Genes and evolution 5

Where point mutations affect

They can arise from processes in

Like point mutations there many

changing allele frequencies: Block Mutations

Genes and evolution 6

Deletion mutations involve genes

Inversion mutations occur when a

Translocation mutations occur when

Genes and evolution 7

Genes and evolution 8

Evolution is the change in the genetic material of an organisms overtime.

process of evolution: what is a species?

This definition is referred to as the biological species concept (BSC).

process of evolution: what is a species?

Genes and evolution 9

There are some issues with the BSC. For example…

process of evolution: what is a species ?

Genes and evolution 10

Species can also be thought of in terms of their gene pools.

In this way a species’ gene pool is

They are said to be genetically isolated.

process of evolution: Changes in allele frequency

process of evolution: Changes in allele frequency

Genes and evolution 11

Genetic drift affects smaller population more so than larger populations.

process of evolution: Changes in allele frequency

As the population has dramatically

process of evolution: Changes in allele frequency

process of evolution: selective breeding

Genes and evolution 12

process of evolution: isolating mechanisms

Isolating mechanisms are conditions that prevent organisms in a population from

process of evolution: isolating mechanisms

Genes and evolution 13

process of evolution: isolating mechanisms