Chapter 12

Diversity within species and population

genetics
.

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What we will learn at the end of this chapter

Recognize how the concepts of species, gene pool, and population

are related.
Explain the difference between the biological species concept and the
morphological species concept.
State why all organisms of a species are not the same.
Distinguish between gene pool and genetic diversity.
List three methods used to distinguish species from one another.
Know the factors that can cause differences in genetic diversity of
different populations of the same species.
Explain how each of the following affects the genetic diversity within
populations: mutation, sexual reproduction, population size, and
migration.
Describe three processes that could result in different populations of
the same species having different gene combinations.
.

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Learn the processes used to produce specific varieties of

domesticated plants and animals.
Relate cloning and hybridization to asexual and sexual reproduction.
Explain how hybrid plants and animals are produced.
Describe how genetic engineering differs from the development of
intraspecific hybrids and clones.
Describe the value and potential danger of the practice of monoculture.
Recognize that population genetics principles apply to human
populations.
Describe why certain diseases are more common in some groups of people
than in others.
Describe how a lack of understanding about population genetics contributed
to the eugenics movements.
Discuss the ethics matters in relation to human population genetics

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Why study Population genetics ?

To map populations genetic profiles

To identify key genetic markers and help prevent diseases
To apply this knowledge for solving societal issues like food, preservation of
plant and animal species
To be aware of the processes that underlie variation leading to natural selectionwhy populations change over time leading to evolution of species

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Populations vs. Species

A species

is all the organisms potentially

capable of naturally breeding among
themselves and having offspring that could
successfully interbreed.
A population is a group of organisms in the
same species in the same geographical
area.

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 Species

examples-human,murine,bacterial
Population eg same Human population in BITS GOA,New
Delhi,Arctic
Bacterial population in soil of different places

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Population Genetics
and Gene Pools
Population

genetics is the study of the kinds

of genes (alleles) within a population.

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Also accounts for the numbers of alleles in a

population
Predicts and observes how those numbers will
change over time
This data is used to classify organisms and study
evolutionary change.

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Population Genetics
and Gene Pools

In a population

Each individual has a set of alleles.

Diploid organisms have 2 alleles at

most.

The population may contain more

different alleles than any one
individual.
The human population has 3 alleles
for blood type.
All of the alleles in a population
make up the gene pool.

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Example -blood groups

diversity of alleles

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Genes, Populations,
and Gene Pools

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Another example-sub
populations of mice
3

alleles
Allele1
C+- gray colour
C brown colour
cwhite colour

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 Allele

2
Tail T-long t- short
Allele 3
Size- S large , s- small

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The proportion of alleles

differs based on
subpopulations
In

I all are brown while the other 3 they are

mixed
In II none are brown
Allele 2
In Population III all are long tailed while in
population IV 50% are short tailed
Allele 3-population III 50% are small while in I
and II all are large
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Analogous examples
Dark

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and light moths allele frequency

Difference in types of bacteria found in extreme
conditions and tropics-what could be
difference?
In cell walls ,heat sensitivity of enzymes
Human race -skin colour differences in
populations example of what kind of
inheritance?? Polygenic
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Biological Species Concept

According

to the biological species concept,

species is a group of organisms

That share a common gene pool

That are reproductively isolated from other
populations
They

do not exchange genetic information.

Local

populations of a single species may

have slightly different allele combinations.

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Gene and Allele Frequencies

Differences

in gene frequencies reflect

genetic differences between populations.
Allele frequency is a measure of how often
an allele is found in a population.

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Expressed as a decimal or percentage

# of times an allele appears in a population/the
total number of alleles in the population

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Allele Frequencies Differ

in the Human Population

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Allele Frequencies,
Dominance, and
Recessiveness

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Allele frequencies are

unrelated to whether the
allele is dominant or
recessive.
There are many instances
where a recessive allele is
more frequent in a
population.
Blue eyes and light hair are
recessive traits that are
more frequent in European
regions.
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Example of ABO
What

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Determines Blood Type?

ABO blood types are determined by a cell surface marker that

identifies the cell as belonging to "self" or to that individual. These
cell surface markers are characterized by a protein or lipid that has
an extension of a particular arrangement of sugars.
Figure 1 shows the arrangement of sugars that determines each of
the A, B, and O blood types.
Note that each is identical, except that types A and B have an
additional sugar: N-acetylgalactosamine for A, and galactose for B.

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Blood group types

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Relevance

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These sugar arrangements are part of an antigen capable of stimulating an

immune response that produces antibodies to identify and destroy foreign
antigens.
People with blood type A produce antibody B when exposed to antigen B,
and those with blood type B produce antibody A when exposed to antigen A.
Blood type AB, however, produces no antibodies because both antigens
present on the cells are recognized as "self."
Blood type O produces antibodies A and B, because neither antigen A nor B
is present on the cells of type O individuals
Though the O allele is recessive it is high in terms of frequency

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Table of frequency of O allele

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The O blood type (usually resulting from the absence of both

A and B alleles) is very common around the world.
About 63% of humans share it. Type O is particularly high in
frequency among the indigenous populations of Central and
South America, where it approaches 100%. It also is
relatively high among Australian Aborigines and in Western
Europe (especially in populations with Celtic ancestors).
The lowest frequency of O is found in Eastern Europe and
Central Asia, where B is common

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O Allele prevalence in the

world

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Implications
The

ancestor O allele lacked the gene for the

enzyme but A and B developed late in the
course of evolution to confer an advantage
over the earlier allele-studies are ongoing to
prove this-or 0 allele could be a mutant of early
human populations whose numbers were small

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Advantages of O allele

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The O allele can provide a selective advantage since it also produces

both anti-A and anti-B antibodies
In particular, it has been suggested that the O allele protects against
severe malaria .
At the same time, it can be more sensitive to Helicobacter pylori
infections and to severe forms of cholera
The complex pattern of putative selective agents favouring or acting
against different alleles could explain the maintenance of the high ABO
polymorphism as evidenced by the signal of balancing selection detected
on the gene

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Research
Genetic

characterization of the ABO blood

group in Neandertals
Carles Lalueza-Fox1*, Elena Gigli1, Marco
de la Rasilla2, Javier Fortea2, Antonio
Rosas3, Jaume Bertranpetit1 and
Johannes Krause4
PAPER:BMC Evolutionary Biology 2008, 8:342
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Results
This

study tried to analyse samples of a

Neathanderal man to confirm which blood
group alleles were dominant and a O group
allele was found in the same.

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Subspecies, Breeds,
Varieties, Strains, and Races
These

all describe different forms of

organisms that are all members of the
same species.

Dogs have different breeds.

Plants have different varieties.
Bacteria have different strains.
Humans have different races.

All
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of these are types of subspecies.

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Subspecies of American
Robins
(a) Turdus migratorius migratorius

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(b) Turdus migratorius confirmis

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How Genetic Diversity

Comes About

Genetic diversity describes genetic differences

among members of a population.

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High genetic diversity implies that many different alleles

exist in a population.
Low genetic diversity implies that all of the individuals in the
population have the same alleles.

A gene pool with greater diversity is likely to contain

combinations of alleles that will allow the individuals
to adapt to a changing environment.

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1 Mutations
Mutations

are changes in the base sequence

of DNA.
Mutations are the source of new alleles.

All alleles originated with mutations.

Most mutations are harmful.
Occasionally a mutation will change a gene so that
the protein works differently or better.
Example:

Insecticide resistance in mosquitoes

O allele formation

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2 Sexual Reproduction

Sexual reproduction generates new genetic

combinations.

May not necessarily change the frequency of alleles

in a population

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New combinations of alleles in individuals

However, the new combination of alleles in an individual may

create a combination of traits that allows the individual to
survive and reproduce more successfully than other
individuals.

Example: Corn plants that inherit resistance to corn

blight and resistance to insects
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 Another

example related to wheat doubling

of chromosomes lead to taller wheat
A genetic accident of nature that lead to
better crops
Today with genetic engineering we are
triggering the changes

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Source
http://www.wheatbp.net/WheatBP/Document

s/DOC_Evolution.php

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3 Migration

The migration is the movement of individuals into and

out of populations.

Artificial migration is used in zoos to generate genetic

diversity.

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Results in alleles being added or subtracted from a population

May change allele frequencies in the population
Examples:

Inbreeding has reduced genetic diversity in small zoo

populations.
Zoos are exchanging animals for breeding to introduce new
alleles into their populations.
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 Example

ferret,California condors,Asiatic

Lion
Problems with this approach
Low genetic diversity due to poor mimicry of
natural migration patterns

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 Link

http://economictimes.indiatimes.com/environ
ment/flora-fauna/100-lion-cubs-raise-girscute-quotient/articleshow/23842796.cms

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Preservation of Asiatic Lion

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Gir, the world's only remaining home of wild Asiatic

lions, sees about 80 to 85 new cubs every year
In 2008, International Union for Conservation of Nature
(IUCN) had removed Gir lions from the critically
endangered list and put them in the comparatively
healthier endangered list
The Supreme Court has ordered Gujarat much
against its wishes to part with a few of its lions for
their relocation to Kuno-Palpur sanctuary in Madhya
Pradesh, in the long-term interests of the lions' survival.
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4 The Importance of
Population Size
Population

diversity.

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size is directly related to genetic

The smaller the population, the less genetic

diversity a population can contain.
Mutations, migrations, and death can have
dramatic effects on the genetic make-up of a
population.
Frequently, random events will significantly
change the gene pool.
This is called genetic drift.
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Example of Genetic Drift

Notice that in the original
population, the red frogs were
eliminated and failed to breed.
Therefore, their genes were not
passed on to the next generation.
As a result, the frequencies of
the genes change in the gene
pool.

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Why Genetically Distinct

Populations Exist
Many

species have wide geographic

distribution with reasonable distinct
subspecies.
This occurs for several reasons.

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1Adaptation to Local
Environmental Conditions
Genetic

diversity allows populations to adapt

to their specific environments.

Some individuals will have combinations of alleles

that allow them to survive and successfully
reproduce in hostile conditions.
Death

and migration remove or reduce the alleles that

do not contribute to survival.

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Example: Lizards in the desert have lighter

coloration than those that live in other
environments.
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12-43

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2 Founder Effect
The

founder effect is a type of genetic drift

that occurs when a new population is
established by a few colonizing individuals.

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The small colonizing group may have different

allele frequencies than the original population.
When the colonizing individuals mate and multiply,
their allele frequencies will tend to persist, making
the new population different from the parent
population.
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3 Genetic Bottleneck

Genetic bottleneck is another form of

genetic drift.
Occurs when there is a dramatic reduction
in population size

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Usually due to some chance event like a

natural disaster examples eruption of Mt
Vesuvius,end of Dinosaurs
Could be due to over-hunting by humans

The remaining members of the population

will mate and pass on their alleles, limiting
their genetic diversity.
Many endangered species are undergoing
genetic bottlenecks.

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4 Barriers to Movement
When

migration is limited, populations

become geographically and reproductively
isolated.

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Perpetuates the effects of genetic drift caused by

founder effect and bottleneck
Limits genetic diversity and generates subspecies

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