Chapter 16

Population Genetics
OBJECTIVES:
• Relate the study of genetics to that of
population genetics and discuss factors that
can affect gene-pool equilibrium
• Explain the Hardy-Weinberg model
• Discuss evolution through natural selection
• Explain genetic drift and contrast its
effects on large and small populations.
• Discuss the role of quantitative traits in
microevolution.
 Population Genetics
Recall: variation among individuals
allows populations to adapt to new
environmental conditions or to be
selectively bred for desirable
traits.
 2 Types of Evolution
• Microevolution: change within a
species. Occurs over dozens or
hundreds of generations*
• Macroevolution: Much longer time
period. Results in a new species
A More Precise Definition
Microevolution is a change in the
genetic composition of
populations.

Studied by population geneticists.

 Gene pool
All alleles in a population of
organisms.
 Allele frequency
Percentage of a particular allele in
one population.
Ex: In a population of pea plants
that are all homozygous for purple
flowers, allele freq. for purple
flowers is 100%
A change in an allele frequency is an
indication of evolutionary change.
Allele Frequencies within Beetle
Population
 Polymorphic Populations
• Have 2 or more alleles for a
particular trait.

• Ex: humans are polymorphic for blood

type.
• Ex: apple trees are polymorphic for
fruit color.
 Hidden Genetic Variations
• Mutation in non-coding regions of
DNA
• Silent mutations code for the same
amino acid
• Unseen polymorphisms
 The Hardy-Weinberg Model
An idealized mathematical model of gene
pools.
•Mathematician Godfrey H. Hardy
•Physicist Wilhelm Weinberg
Use allele freq. to calculate genotype freq.

Allele frequency p and q,

p + q = 1
In the next generation:
p2 + 2pq + q2 = 1

Homozygous p: p2
Heterozygous: 2pq
Homozygous q: q2
Hardy-Weinberg Equilibrium
Allele and genotype frequency will stay
constant in the absence of disturbing
influences.

p2 + 2pq + q2 = 1
 Hardy-Weinberg Model
Makes some assumptions about the
population. No “disturbing influences.”
• random mating
• no mutation (the alleles don't change)
• no migration or emigration
• infinitely large population size
• no selective pressure for or against
any traits.
Hardy-Weinberg Equilibrium
Predictions of the model
1. Predicts allelic and genotypic
frequencies
2. Genetic variation remains in the
population (unless selective
pressures)
Good news for Darwin! (Assumed
blending inheritance.)
 Genetic equilibrium: a constant
state of allele frequency
The following conditions must be met in order that
genetic equilibrium not be disrupted.
1) No natural selection
2) Random mating
3) No migration
4) No mutation
5) Large population size

Note: does not occur in nature.

So, why use Hardy-Weinberg model?
 Quick Quiz
1. Would a change in allele frequencies
be more likely to produce
microevolution or macroevolution?
2. What is the difference between
gene pools and allele frequencies?
3. Why does the concept of gene pools
apply to populations but not to
species?
A Normal Distribution
results from
Stabilizing Selection:
Natural selection that
favors average
individuals in a
population.
Normal Distribution

IQ
 Directional Selection in
Peacocks
Females only mate with males with the
largest tails. Over time, tails have gotten
continually larger due to this selective
pressure.
Peppered Moths: color variations
 1850: allele
frequency was 95%
light, 5% dark
1900: allele
frequency 95%
dark, 5% light
Disruptive Selection:
Natural selection
that favors either
extreme trait.
 Disruptive Selection in Snails

Limpets with light-colored shells blend in

with light rocks and sand. Dark shells blend
in with dark rocks.
Limpets with medium-colored shells are easily
seen on both rocks and eaten by birds.
Disruptive Selection in Spiders

• When spiders are small, they are not

as easily seen by predators.
• When spiders are large, they are
often too big to be eaten.
• Spiders in the middle are the most
vulnerable to predators.
Other Factors Affecting Gene
Pools
• Gene Flow: Migration to a new
population, organism may bring new
alleles with it.
• Mutation: If beneficial, will be
favored by natural selection and
gradually increase in frequency
• Genetic Drift: Spontaneous changes
in allele frequencies. Small
populations only.
 Other Factors Affecting Gene
Pools
• Inbreeding: Gradual increase of
homozygotes. Ex: California Condor
• Population bottleneck: Population size
reduced for a few generations. Inbreeding
results. Ex: Buffalo in the 1800’s.
• Inbreeding increases frequency of harmful
recessive alleles. Leads to Inbreeding
Depression: reduced fertility and survival.
 Did you know…
The average human is estimated to
have 7 alleles that would be lethal if
they were homozygous? In inbred
populations, inheriting 2 of these
alleles is more likely.
(BSCS Biology: A Molecular Approach)
 Population Genetics

CONCEPT REVIEW:

• Evolution results from a disruption in genetic equilibrium.

• The normal distribution of variations in a population can

be changed by natural selection, gene flow, mutations,
and genetic drift
 Chapter 18
Diversity and Variation
Outcomes
• Explain homology and give examples of
homologous structure
• Describe how the general characteristics
of the 5 kingdoms differ.
 The 5 (or 6) Kingdoms
• Archaebacteria
Bacteria/monera
• Eubacteria
• Protista
• Fungi
• Plantae
• Animalia
Bacteria
• Prokaryotes
• First organisms to evolve
 Protista

• Earliest eukaryotes.
• Usually single celled.
• No organ systems
• Nucleus developed
• Mitochondria, flagellates, and plastids
became incorporated.
• Ex: amoeba, paramecium, algae
Fungi

• Usually multicellular (except yeast)

• Eukaryotic
• Heterotrophs
• Evolved from fungus-like protists
(slime molds)
• Ex: mushroom, mold, yeast
Plantae

• Multicellular, with complex body

systems (roots, stem, leaves)
• Autotrophs
• Eukaryotes
• Evolved from photosynthetic bacteria
• Ex: Flowering plants, Conifer, Mosses,
Ferns
Animalia

• Multicellular with complex systems

• Heterotrophic
• Eukaryotic
• Ex: Fish, Amphibian, Reptile, Bird,
Mammal
There are still lobe-finned fish today called
mudskippers. 34 species have been
identified. Unlike those we evolved from,
most of today’s species have only 2
appendages (front lobe-fins)
Fish to Amphibians
Reptiles to Birds
Reptiles to Birds
Evolution
of
Mammals
 Eventually, some
mammals
returned to the
water.

• Today’s whales
had an ancestor
similar to a wolf.
 Chapter 19
Changes in Species
Outcomes:
• Cite evidence from fossils, ecology, and
homologies that support the theory of
evolution
• Discuss the genetic and molecular
evidence for evolution
• Discuss isolation mechanisms that can
cause speciation
• Describe the patterns in evolution such as
punctuated equilibrium
Fossils
as evidence of evolution
Fossils are the preserved remains or imprints
of ancient organisms.
Fossils: the only evidence we have that
tells us directly about life in the past.

This extinct dragonfly had a wingspan of 3 feet!

Life first appeared on earth more than 3
billion years ago.

Fossils of algae and diatoms

Millions of now extinct creatures lived on
earth before humans came along.
Some fossils are the actual preserved
remains of the organism
 Soft-Tissue Fossils
Ice in the Arctic has preserved some
fossils for 1,000s of years.
In 1999 a wooly mammoth was
discovered intact.
Can it be revived by crossing with an
elephant? Different #s of
chromosomes (58 and 56), but 95%
similar DNA.
Scientists have found 250,000 species of
extinct orgnisms
Estimate that only 1 in 10,000 have been
found.
Evolution of the Horse
In these pictures, there
appears to be a straight
line progression from the
first horse ancetor to the
modern horse species.
Such a progression implies
an evolutionary goal, since
there is a trend toward
larger body size and fewer
toes.
Evolution of the Horse
However, evolution rarely
follows a straight line to a
goal.
Remember,
There are no goals in
evolution !
 Evidence for Evolution:

Body Structures
1) homologous
2) vestigial
3) analogous
Homologous Structures: Traits that are
similar in different species because they share
a common ancestor.

Note how the bones have adapted to different niches

This is evidence of a common ancestor.
Vestigal Structures: No longer used.

The Human “Tailbone”

This is evidence that humans
evolved from an ancestor that
had a tail.
Vestigal Organ: human appendix

appendix
 A whale has a
pelvic bone too,
and tiny leg
bones.
Analogous Structures: structures that
are similar in function but are not inherited
from a common ancestor.

NOTE: Analogous structures indicate that organisms

are not related.
Embryology is also used as Evidence of Evolution:
Similar development of the embryo is evidence of a
common ancestor

All three embryos have “gill pouches” in

the folds of the neck. All three have
tails.
 Perhaps the clearest
biochemical evidence
of the common origin
of living things is the
genetic code. The
same nitrogen bases
of adenine, thymine,
guanine, and cytosine
exist in every form of
life.
In addition, the genetic code itself –
the codons for the amino acids – is
almost universal.
 The genetic code is the same in every known organism.
Every organism uses the same base codes for amino acids
 Degree of Relatedness
Can be determined by
• Amino acid sequence
• Homologous proteins
• Nucleotide sequence
• Homologous genes.
 More Genetic Evidence:
Pseudogenes
Gene duplication: produces multiple copies of
DNA sequences.
Pseudogenes: gene copies that don’t function,
so aren’t subject to natural selection.
Mutations occur unchecked.
According to natural selection, these non-
coding sections should accumulate mutations
faster than functional genes – and they do!
 Amino Acid Sequence
• Can be used to determine relatedness
 How fast do
evolutionary changes
take place?
Based upon Darwin’s theory
it has long been believed
that evolutionary changes
were slow and gradual:
Gradualism.

1972: scientists Stephen

Jay Gould and Niles
Eldridge advanced a
different explanation about
the rate of evolution called
Punctuated Equilibrium
•Punctuated Equilibrium:
populations remain
genetically stable for
long periods of time,
interrupted by brief
periods of rapid change. stasis
•sudden changes in the
environment
•increased mutation rate.
Speciation is the evolution of one
or more species from a single
common ancestor species.
Patterns of
Evolution
 How do species remain
separate?

(1) Potential mates do not meet. Grizzly and Polar

bears.
(2) Potential mates meet but do not breed. Nocturnal
and diurnal birds. Leopard frog populations that
breed during different months.
(3) Potential mates meet and breed, but do not
produce viable offspring.
Divergent Evolution:

Occurs when isolated populations of a species evolve

independently.
 Grizzly Bear Polar Bear

Divergent evolution is responsible for

polar bears. A northern population
of grizzly bears became isolated
from others of the species and
adapted to the Arctic regions.
 Coevolution:

Interactions with other

organisms effect
evolution.
Coevolution is responsible
for mimicry one of the
most fascinating topics in
biological evolution.
 Coevolution
The pronuba moth and the
yucca flower

Depend on one
another for
reproduction.
 Coevolution
The Orchid Fly
 Coevolution: Cactus and
Galapagos Tortoise

Saddleback shell
 Cleaner Wrasse

Sabre Toothed Blennie

Adaptive Radiation: Many diversely related species
from one common ancestor
 Polyploidy in Plants
If plants inherit an extra chromosome from
parents, they are said to be polyploidy.
Often, these plants can only mate with other
polyploids, or use asexual reproduction.
Convergent Evolution:

Unrelated species display

similar features. No
common ancestor.
How does this happen?
Convergent Evolution
Disruptive markings make it hard for
predators to single out a victim.
 Similar niches usually contain similar
evolutionary pressures (selective
pressures).
If ancient niches were similar to modern
niches then organisms today could
resemble organisms now long extinct.
 Similar niches found on different
continents can produce organisms that
are fairly similar.
Modern dolphins and prehistoric ichthyeosaurs
(marine reptiles) look very similar due to the
types of niche they inhabited.
Analogous structures can be caused by niches.
Similar niches create similar body forms.
. .

.
.
.
Note how similar niches
created long necks in
both sauropods and
giraffes.
.

. .
Similar foods
(similar niches)
create similar
teeth in
.
herbivores.
Similar foods
(similar niches)
create similar
teeth in
carnivores.
 Quick Quiz
1. What are isolating mechanisms, how
do they operate?
2. What is polyploidy? What is its
connection to speciation?
3. Explain the statement: “Populations
evolve, not individuals within a
population.”
 Origin of Species
Concept Review:
• New species can develop when populations become separated
and isolated.
• Similar traits can develop in unrelated species occupying
comparable niches.
• Interactions with other organisms affect evolution.
• Many diverse species can evolve from one ancestral species.
 Chapter 17
The Origin of Life
Objectives:
• Describe the origin of the universe and
probable conditions on early Earth
• Evaluate hypotheses about the origin of
life and identify the probable
characteristics of early life-forms
• Distinguish between chemical and
biological evolution
• Describe the fossil record for
prokaryotes and eukaryotes.
 The Origin of Life

•Can’t be observed
•Inferences
•Probably needed energy, C, H,
O, N, and lots of time.
 The Big Bang
The Expanding Universe
• Edwin Hubble, 1920. The Hubble
Telescope was named for him.
• Wavelengths of light can be
measured, spread out as objects move
farther away
• The rate of expansion is known, used
to calculate the time when universe
was tiny.
 The Big Bang
• 15 billion years ago
• Universe was condensed into a tiny
“singularity”
• An infinitely hot, dense mass.
• When it exploded, The Big Bang,
hurled energy and mass into space.
• What was there before the Big Bang?
 Early Earth
• 4.6 Billion years ago
• Meteorites and the oldest rocks from
the Moon confirm this
 History of the Earth
Era Million Years Ago First evidence of
Cenozoic 7-5 Human-like apes
65 Primates
Mesozoic 140 Flowering Plants
220 Mammals
235 Dinosaurs
Paleozoic 300 Reptiles
360 Amphibians
400 Land Animals
430 Land Plants
520 Vertebrates
Precambrian 2100 Eukaryotes
2500 Free O2 in atmosphere by prok.
3500 Prokaryotes
 The Early Atmosphere
• Gasses from volcanoes: N2, CO2, H2O,
H2, CO, probably methane (CH4)
• No O2
• No ozone layer – intense radiation,
extreme temperature changes.
 The First Living Things
• Anaerobic Organisms
• 1 billion years later, some
photosynthetic organisms began
releasing free oxygen.
 How did those living things
come to be?
3 possible explanations:
1. Life originated on some other planet,
then traveled to Earth through space.
2. Life originated by unknown means on
Earth
3. Life evolved from nonliving substances
through interaction with their
environment.
2 of these cannot be tested, only one can
be stated as a hypothesis. Which one?
 Chemical Evolution
Life evolved from nonliving substances
• Small, inorganic molecules were heated
via cosmic radiation, volcanoes,
radioactivity and lightning.
• Gasses in the atmosphere react,
forming organic compounds
• Compounds accumulate in oceans,
forming a hot soup
• Life evolved by chemical reactions and
transformations in the organic soup
 Chemical Evolution
The oceans became “soup” of organic
compounds
The Heterotroph Hypothesis
The first living things were probably
heterotrophs that fed on organic
compounds in the ocean.
With no competition, autotrophs would
not have an advantage over
heterotrophs
 The Heterotroph Hypothesis
(or Oparin-Haldane hypothesis)
3 Requirements
1. There had to be a supply of organic
molecules, produced by nonbiological
processes.
2. Some processes had to assemble
those small molecules into polymers
such as nucleic acids and proteins.
3. Other processes had to organize
the polymers into a system that
could replicate itself
 Evidence for the Heterotroph
Hypothesis
Stanley Miller’s experiment in 1950. Early
Earth conditions were simulated in an
airtight apparatus.
• Water vapor
• Lightning
• CH4, NH3, H2O, H2
After circulating for a week, new
compounds were found in the water,
including some amino acids.
More recent experiments have produced the 5 bases of DNA
and RNA too.
 Other Sources of Organic
Molecules
• Meteorites from space – amino acids
have been discovered
• Volcanic vents – release gases at
high temperatures
Remember 1st requirement: There had
to be a supply of organic molecules,
produced by nonbiological processes.
 The rest of the hypothesis:
#2. Some processes had to assemble those small
molecules into polymers such as nucleic acids
and proteins.
Clay – repeating crystalline structure that could
attract then connect monomers
#3. Other processes had to organize the polymers
into a system that could replicate itself
RNA – Can form spontaneously. Can reproduce
itself. Probably came before DNA
 Biological Evolution
• When did chemical evolution become biological
evolution?
• When organic molecules became living things
• Self reproduction, mutation that can be
inherited, and natural selection = life
• Cells? Today all living things are made of cells.
• It is unknown when/how cell membranes
developed.
• The first living things may have had membranes,
or not. They may have been DNA, RNA,
proteins…who knows?
 Prokaryotic Fossils
3.5 Billion years old. Single-celled
prokaryotes.
Suggest life was already diverse and
thriving.
Probably methanogens:
Use CO2 to oxidize
hydrogen
 Fossils of Eukaryotes
• 2.1 Billion years old
• Lynn Margulis of UMass, Amherst
developed the endosymbiont hypothesis:
Chloroplasts and mitochondria were once
free-living prokaryotes. Photosynthesis
and respiration of the small cells have
benefited the host cells.
• Mitochondria probably evolved from
aerobic, heterotrophic purple bacteria.
• Plastids probably evolved from
autotrophic cyanobacteria.
 Endosymbiont Hypothesis

The evidence: Both have their own DNA and

ribosomes, which are similar to other bacteria.
Also both have a double membrane; their outer
membranes may have evolved from vacuoles when
host cells took them in.
Evolution of Eukaryotes
 Quick Quiz
1. Why is it believed that methanogens
might have been the first
organisms?
2. How might mitochondria and plastids
have originated?
3. What evidence supports the idea
that mitochondria and plastids
originated from free-living
prokaryotes?
 Chapter 20
Human Evolution
Outcomes:
• Describe how modern humans differ
from other primates
• Evaluate the techniques used to study
evolutionary relationships in humans
• Compare early hominids with Homo
erectus and Homo sapiens
• Give reasons for the difference in
the gene pools of modern human
populations.
 What are Primates?
• Opposable Thumbs
• Fingers and toes have nails, not claws
• Flexible shoulder and hip joints
• Binocular, 3-D vision for accurate
depth perception
• Color vision
 Humans vs. Other Primates
• Bipedal: Hands are free
• Have a hippocampus: brain region for
memory and learning. Absent in most
primates (not chimps and gorillas)
• More fine motor control in hands
• Language, well developed vocal chords
 Molecular Similarities
Human vs. Chimpanzee
Protein Number of amino acids Amino-acid difference
Hemoglobin 579 1

Myoglobin 153 1

Cytochrome C 104 0

Serum Albumin 580 7

 Molecular Similarities Among
Primates
Species Difference in Estimated time
compared DNA sequence since
(%) divergence
Chimpanzee vs. 0.7 3 million years
Bonobo
Human vs. 1.6 7 million years
Chimpanzee
Human vs. 2.3 10 million years
Gorilla
Gorilla vs. 2.3 10 million years
Chimpanzee
 Early Hominids
• Lived in Africa
• Genera in Hominid family: Homo and
Australopithecus (larger teeth,
smaller brains).
The Hominids
Hominids – The Human-like
Primates
 Comparing Skeletons
Skeletal fossils – clues to how organism
moves, eats, behaves.
Footprint fossils – How organism
moved, how heavy it was.
Who was Lucy?
 Comparing Skeletons
Skeletal fossils – clues to how organism
moves, eats, behaves.
Footprint fossils – How organism
moved, how heavy it was.
Who was Lucy?

Australopithecus afarensis
found in Ethiopia, 1974
The First
Humans
Hominids
 “Hence, both in space
and time, we seem to be
brought somewhat near
to that great fact -
that mystery of
mysteries - the first
appearance of new beings
on this earth.”
Charles Darwin