BIO105 (Genetics)

Department of Biological Sciences

College of Science and Mathematics

Mindanao State University- Iligan Institute of Technology

Iligan City, Philippines

by:

Christine Cherry E. Solon, Ph.D.

Strictly for educational purposes only. Do not upload to any site nor
distribute to those who are not enrolled in this course. The images
herein are used to make understanding of the concepts easier.
Not for sale.
BIO105 Module 4 1|Page
REFERENCES:

Klug, W.S., M. R. Cummings, C. A. Spencer and M. A. Palladino. (2012).

Concepts of Genetics. 10th ed. Pearson Education, Inc.

Russell, P.J. (2010). iGenetics A Molecular Approach. 3 rd edition.

Pearson Education, Inc.

Verma, P.S. and V.K. Agarwal. (2004). Cell Biology, Genetics, Molecular
Biology, Evolution and Ecology. Multicolour Edition. S. Chand &
Company, Ltd.

[Link]
isolation

USING THIS MODULE

Read carefully this section. It provides you an overview of the
overall approach used for the development and implementation of
learning and teaching activities.

All sessions are self-directed, which requires you to take full control of the
learning process. You need to take initiative, with or without the
assistance of your teacher, to complete all learning and assessment
activities. You have to develop and sustain your motivation to succeed in
this course.

To become successful in your learning, you need to do the following:

1. Read the learning outcomes for each session. They articulate the
knowledge you need to acquire and skills to develop.
2. Assess your prior knowledge by identifying which learning outcomes
you already know, and which learning outcomes you need to focus
on.
3. Develop your learning goals based on the results in #2. Keep those
learning outcomes in mind while you engage in the learning
activities.

BIO105 Module 4 2|Page

 4. After completing all learning activities, reflect which learning
outcomes/ learning goals you have achieved by accomplishing the
ROYL. A software will be utilized to check for plagiarism so copying
and pasting is prohibited. At the end of the ROYL (or activity with
questions), always include a list of refences. Copied-pasted answers
will not be credited. Answer directly to the point. Long answers do
not necessarily mean more points.

Housekeeping Rules:
1. You need to study all reading materials and complete all activities.
2. Be mindful of the schedule of activities. If circumstance/s will not
allow you to take the quiz/exam, inform your teacher within 24 hrs
through email to your teacher or through another option of
communication given by your teacher.
3. For any inquiry/clarification related to the topics, post the question
in Google Classroom. There may be changes regarding this. Just
wait for announcements from your teacher. For concerns which are
not related to the course topics but which you feel can affect your
performance, send a message directly to your teacher. Questions
will be answered right away if they are asked during the agreed real-
time online consultation. If questions are asked at other times,
answers might be delayed but you will really get answers. Inquiries
done during the weekend will be answered on Monday.
4. Extension for submission would only be allowed if the reason is valid.
What is valid? Power interruption, internet connectivity problem,
real emergencies.
5. Each topic will be good for a certain duration and that will serve as
your guide in managing your schedule so that you can finish
everything within the allowable time. Schedule is posted in Google
classroom/MOLE.
6. The files for submission can be downloaded from Google
classroom/MOLE and answers will be entered therein. Example:
Completion of a table where the format is already given in the
module. Be sure to use the proper file name, as instructed. Observe
proper etiquette in the submission of output through e-mail. Outputs
should be submitted to your teacher via e-mail. Follow basic e-mail
etiquette and include this basic information:
BIO105 Module 4 3|Page
 Subject: filename like APK4, ROYL4 or Ex9
Write a short message just to save your teachers time in replying
since automatic options are only given if there is a message in the e-
mail.
And MAKE SURE that you really ATTACH the file that you are
submitting. If you will not get acknowledgment of your submission,
it is your duty to check or follow-up from your teacher if your
submission was really received.
7. Follow all instructions given above. Comprehension is part of your
grade for communication

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 MODULE 4: Specialized Topics

INTRODUCTION
In this module, we will be looking into the role of genes in development,
quantitative inheritance and genetics in populations. These are
complicated topics so we will just go over the basics, just for you to be
able to appreciate the role of genes in every aspect of our lives.

LEARNING OUTCOMES:
At the end of this module, you should be able to:
1. explain how most cells can have the same genetic content and yet have
different functions in the body especially during development.
2. differentiate nuclear from extrachromosomal inheritance and solve
problems illustrating the latter.
3. predict the transmission of phenotypes associated with maternal effect
genes.
4. interpret results of crosses showing cytoplasmic inheritance.
5. describe the Hardy-Weinberg law and explain the conditions that must
be met for it to hold true.
6. apply the Hardy-Weinberg Law in analyzing population genetics for
gene frequency, sex linkage, equilibrium, and heterozygote frequency.
7. predict gene frequencies in populations when one allele is favored over
another.
8. predict effect of continuous inbreeding or outbreeding in a population
after several generations.
9. examine the factors that caused speciation.

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Activating Prior Knowledge (Individual)
Reflect on the 8 learning outcomes above. To complete the Table
below, use the downloadable file (in document format) that is
posted in our MOLE classroom. Name and save the file using this
format: your family name (section) – APK4. E-mail the completed
document to your professor.
Any questions/clarifications
Learning
What do you know? in relation to learning
Outcomes
outcomes
1
2
3
4
5
6
7
8
9

Before we proceed to the meat of this topic, it is but proper to review on

what you know about cell structure and function. Reflect on the following
questions:
1. How can different types of cells develop from the same genome?
2. How does extranuclear inheritance differ from chromosomal
inheritance via the nucleus?
3. Is it possible to predict the composition of a population in terms of
genotypes and gene frequencies using data gathered within a few
generations?

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Reading Material
Since this module is a combination of 3 topics, our preparation
for this is the structure of the gene, regulation of gene
expression, epigenetic regulation, nuclear inheritance as a point
of reference for comparison purposes, gene interactions, probabilities,
mutations and other basic knowledge on Mendelian and non-Mendelian
genetics. If you have grasped these concepts presented in the previous
modules, then you will breeze through these topics.

GENES IN DEVELOPMENT
The process of development is an orderly and systematic one and its
success is due to the timed functioning of certain genes. Meaning, there
is a schedule for when genes are turned on and turned off.

Differential Gene Expression

3 postulates of Differential Gene Expression:
1. Every cell nucleus contains the complete genome established in the
fertilized egg. In molecular terms, the DNAs of all differentiated cells
are identical.
2. The unused genes in differentiated cells are not destroyed or mutated,
and they retain the potential for being expressed.
3. Only a small percentage of the genome is expressed in each cell, and a
portion of the RNA synthesized in the cell is specific for that cell type.

Differentiation: the process by which an individual cell acquires a

specialized function. It requires a change in the pattern of gene
expression in a cell.

Figure 1 shows how cells differentiate. The zygote or fertilized egg

contains everything that a cell needs for it to develop into any kind of cell
(totipotent). A few mitotic divisions later, each cell comprising the embryo
is still totipotent but as development progresses, the potential to become
any cell decreases. Blastocyst cells now contain pluripotent cells. True,

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they can still become many types of cells but no longer all the types of cells
in the body like in the early stage of development. Soon after blastocyst
stage, the cells become more directed to specific developmental
pathways. They become tissue-specific.

Fig. 1. Mammalian cell

differentiation
process.

Mesenchymal stem cells give rise to all the connective tissues of the body.
If we follow their developmental path, we can see how they “commit” to a
certain fate after the process of proliferation (mitotic divisions). Once
committed, they follow those specific developmental pathways (fig. 2).
Once they have differentiated, they will mature and become their destined
type of cell and become part of that specific tissue.

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Fig. 2. How mesenchymal cells give rise to connective tissue cells.

Fertilization combines the chromosomes of the male and female parent;

thus, a zygote contains the combined genomes of the parents. Each cell
in the body of the organism that develops from that zygote has exactly the
same genome (fig. 3) BUT… different sets of genes are active (turned ON)
in different types of cells.

Fig. 3. Differential gene expression among cells from the same organism.
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GENOME: the complete set of genes or genetic material present in a cell
or organism.

GENE AMPLIFICATION: selective increase in the number of copies of a

gene coding for a specific protein without a proportional increase in other
genes (fig. 4); it is the multiple replication (repeated copying) of a section
of the genome. Based on what is shown in the picture, the white portion
remains the same in terms of length while the shaded portion exist in many
copies as a result.

Fig. 4. Gene amplification.

In development, this is the increase in the number of one kind of gene

during the life cycle of an individual. The gene that is increased is the one
that needs to be transcribed more and produce more products. There is
thus, a selective replication of the genes that are needed, so that the
proportion of some genes increases while the amount of DNA remains the
same. Meaning there must be some sort of adjustment as far as the cell’s
activity is concerned.

GIANT CHROMOSOMES
These are proofs of gene amplification.
1. Polytene chromosomes: in the salivary gland cells of the fruit fly
Drosophila; ~2000 m in length (fig. 5)
2. Lampbrush chromosomes: occur in the oocytes (germ cells in the
ovary) of amphibians and in some insects; extremely large synapsed
homologous chromosomes which can be seen in the diplotene stage of
meiotic prophase I; ~1500 to 2000 m in length (fig. 6)
3. Reticulocytes – immature red blood cells

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 POLYTENE CHROMOSOMES in Drosophila
are produced by endoreplication, a process
that occurs in cells of the larval salivary
glands of many Dipteran species. These
cells do not undergo mitosis, and they grow
by expanding to about 150 times their
original volume.

Fig. 5. Polytene chromosomes.

They are formed by the fusion of centromeres of all the 8 chromosomes
found in the cell.
It has the following parts (fig. 6):
1. arms - show characteristic dark bands (chromomeres) and light
bands (chromonemata). The dark bands are euchromatic
regions. The numerous chromonemata result from repeated
replication of DNA, without separation into daughter
chromosomes (mitosis is absent).
a. long arms (longest – fused sex chromosomes)
b. short arm (fused chromosome 4)
2. chromocenter

Fig. 6. Parts of polytene chromosomes.

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In certain cell types, particular regions of the chromosomes would
occasionally form different reversible puffs (chromosome puffs
or Balbiani rings) which are associated with differential gene activation.
These regions contain actively transcribing DNA involved in the synthesis
of RNA types. They increase production of mRNA for Glue Protein (fig. 7).

Fig. 7. Chromosome puffs in polytene chromosomes.

They represent the loosened up (or puffed up)
regions that are actively transcribed and
translated into Glue protein which is used by the
larvae to anchor themselves to the walls.

LAMPBRUSH CHROMOSOME consists of (fig. 8):

1. axis - consists of:
a. chromomeres (nucleosomes) (fig. 9)
b. interchromomere regions.
2. lateral loops which consist of transcriptionally active DNA (can
synthesize large amount of mRNA necessary for yolk
synthesis)

Fig. 8. Portions of lampbrush chromosomes isolated from an oocyte

nucleus of the North American newt.

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 All transcription units functioning in
lampbrush loops synthesize RNA at
a maximum rate.

Fig. 9. The axis and loops of

lampbrush chromosomes.

Reticulocytes are immature RBC without nuclei.

They are a valuable tool for biologists who study
protein translation. Reticulocytes are unusual
among cells in that they contain all of the machinery
necessary to translate proteins but lack a nucleus
(fig. 10).

Fig. 10. Reticulocytes synthesize hemoglobin.

Recall the many levels of control under regulation of gene expression:

transcriptional control, posttranscriptional control, translational control
and posttranslational control.
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NUCLEOCYTOPLASMIC INTERACTIONS

Molecular Exchanges Between Nucleus and Cytoplasm

In eukaryotes, there is a nuclear envelope which separates the

nucleoplasm from the cytoplasm. Since replication and transcription take
place within the nucleus while translation occurs in the cytoplasm, it is
clear that materials can cross this membrane. The nuclear pore complex
(fig. 11) is even more permeable than the plasma membrane.

Fig. 11. Model of the nuclear pore

complex.

Take note of the transport mechanisms involved

across the nuclear envelope. Small molecules
move both inward and outward via passive
diffusion, while the transport of proteins and
RNAs are linked to energy sources (fig. 12).

Fig. 12. Molecular traffic through nuclear pore

complexes.

Transport of proteins is elaborated in fig. 13, and of RNAs in fig. 14.

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 Fig. 13. Transport of Proteins. (a) import, (b) export. Note the
involvement of protein complexes in the transport.
Proteins travel as cargoes bound to either importin or
exportin.

Fig. 14. Transport of

snRNAs from
nucleus to
cytoplasm
where they
form complex
with proteins to
form snRNPs
that re-enter
the nucleus to
take part in
splicing.

RNAs, on the other hand, leave the nucleus to associate with proteins in
the cytoplasm then travel into the nucleus complexed with proteins.

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Control of Macromolecular Synthesis in the Nucleus by the Cytoplasm

One of the factors that can affect gene expression is the hormone.
Hormones can influence transcription directly (steroid hormone) or via
secondary messengers through signal relays (protein or peptide
hormone) (fig. 15).

Fig. 15. Regulation of gene expression by hormones.

GENES & MORPHOGENESIS

Morphogenesis is the process by which differentiated cells are organized
into a hierarchy of tissues, organs, and organ systems.

Gene effects on embryonic induction

INDUCTION: process by which one group of cells produces a signal that

determines the fate of a second group of cells

In the multicellular embryo, the cytoplasm of each cell already starts to

differ (remember from totipotent the cells are “downgraded” to
pluripotent). This means a different internal environment. The external
environment also differs and they can add to the signals to the developing
cell. In fig. 16, a piece of the dorsal lip of the blastopore (also called the
organizer region) from a frog gastrula is transplanted to another frog
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gastrula. This led to the development of 2 neural fords in the host gastrula;
one where the original blastopore lip was located and the other where the
other piece of tissue was transplanted. Fig. 17 shows induction by
interaction between cells.

Fig. 16. Induction

experiment done
on frog gastrula.

Fig. 17. Cells near each other

send out signals that
can guide how the
differentiation process
is carried out.

Gene effects on endocrine system

• mutations in key hormone-synthesis genes cause endocrine

disorders

1. The thyroid gland and parathyroid gland develop from one of the
outpocketings of the pharynx called pharyngeal pouches. The genes
involved in their development are indicated in uppercase letters in the
next figure. Studies in mice have shown that interfering with
the HOX15 gene can cause parathyroid gland aplasia (fig. 18). [aplasia
- the failure of an organ or tissue to develop or to function normally ]

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 Fig. 18. The role of HOX 15
gene and other genes
in the development of
parathyroid and
thyroid glands,
respectively.

Even if we are supposed to look at the role of genes on the endocrine

system, let us take a little detour and present the role of Hox genes.

The Hox family of genes (also called homeotic genes) is important in

controlling the anatomical identity of different parts of a body along its
anterior/posterior axis. Figure 19 shows how the regions of the body are
defined by the arrangement of genes in the DNA and how the pattern is
established in the embryo along the antero-posterior axis, which will also
be the same pattern in the adult. See the various colors and find out for
yourself.

HOMEOBOX GENES are a large family of similar genes that direct the
formation of many body structures during early embryonic development.
They determine pattern formation of higher forms of organisms like human
and mouse in fig. 20.

See how closely related humans and mice are. In humans, the homeobox
gene family contains an estimated 235 functional genes and 65
pseudogenes (structurally similar genes that do not provide instructions
for making proteins). These genes are present on every human
chromosome, and they often appear in clusters.

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 Fig. 19. Pattern
formation along
the A-P axis in
flies.

Fig. 20. Homeobox

genes in
humans and
mouse.

Back to effect of genes on the endrocrine system…

Many classes and subfamilies of homeobox genes have been described,

although the groupings are used inconsistently.

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2. In gonadal development (fig. 21), the genes for the development of the
genital ridge to either an ovary or a testis are shown. While many of the
genes are the same for
both developmental
pathways, SRY gene
only affects male
development.

Fig. 21. Genes

governing gonadal
development.

3. Genes governing pituitary gland development include those that are

involved in the production of
hormones (fig. 22).

Fig. 22. Role of genes in pituitary

gland development.

Gene effects on migrating cells

Cell migration is fundamental to the morphogenesis of embryos. During

gastrulation, cells move to establish their locations which will later be
followed by the development of specific organs. Figure 23 shows the
migration of cells related to the circulatory system and the genes involved
in the development of heart.

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Fig. 23. (a) Migration of cells can be tracked by the different colors used:
myocardial cells will form the muscular layer of the heart,
endothelial cells will form the inner lining of the heart (only based
on this picture since we are looking at circulatory system), (b)
Development of the heart and the genes that are involved (turned
on) in each stage.

Bear in mind that in order for cell migration to be successful, there are
intracellular and external signals that guide them, be it in the form of
receptors that are expressed on surfaces of destination sites or other
molecules that they get in contact with as they travel. Also involved are
microtubular networks, some adhesion proteins and other signalling
pathway components.

Gene effects on regulation of growth and metabolism

Growth and metabolism are highly dependent on the availability of raw

materials that are needed like nutrients. This will involve the highly
functional transport mechanisms of the plasma membrane.
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1. One of the hormones involved in growth is the growth hormone (GH).
From the anterior pituitary it should reach the target tissues (fig. 24).

Fig. 24. Genes involved in normal development: JAK2, FAK, Src, etc.

Organ specification and morphogenesis depend on both tissue-selective

and ubiquitous transcription factors and genes that work in interacting
networks. FGF (fibroblast growth factor) signalling centers from heart
and/or from the splanchnic mesenchyme influence lung formation from
foregut endoderm. The complexity of gene transcription during lung
morphogenesis is immediately evident from the multiple cell types that
comprise the lung, being derived from ectodermal, mesenchymal, and
endodermal compartments, all present in appropriate numbers and sites
to support respiration. Transcription factors uniquely specifying lung
formation have not been identified. A number of transcription factors and
their binding sites have been characterized and associated with the
regulation of lung specific genes (fig. 25).

Note that the location of the lung bud is posterior to where thyroid grew
out of and anterior to the liver and other digestive system structures (fig.
26).
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 Fig. 25. Transcription factors
and genes needed for
synthesis of proteins are
lung-specific. FOXA
regulates SHH required
for branching morpho-
genesis.

When genetic
information is passed on
to offspring through one
parent, which parent
does it usually come
from?

Fig. 26. The lungs start out as lung

buds arising from the
embryonic foregut. The
branches of the “stalks” will
become its ducts.

DELAYED CHROMOSOMAL AND EXTRACHROMOSOMAL

INHERITANCE

The characteristics showing delayed inheritance still conforms with the

principles of chromosomal genetics but sidetracked by the ties of a
parent. Since it is between the mother and offspring it is called
MATERNAL INHERITANCE.
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2 important features in the egg resulting to maternal inheritance:
• The orientation of the mitotic spindle axis
• The high cytoplasmic continuity between the egg and the zygote with
very little or no contribution from the sperm

Example: eye pigmentation in flour moth (experiment by Caspari in 1948)

Gene A controls color of the larval eye and skin.
A = pigmented
a = non-pigmented

Allele A is involved in the production of KYNURENIN which is involved in

pigment synthesis. When either parent is pigmented, the pigmentation in
the larval stage of offspring can vary (fig. 27). Note that the genotypes do
not match with the phenotype. In fig. 27b, the larva with an aa genotype is
pigmented.

Fig. 27. Reciprocal crosses in

flour moth where only
1 parent is pigmented
and how pigmentation
is transmitted to
offspring from the
mother regardless of
genotype of offspring.

An experiment by A.E. Boycott (1920s) focused on the shell coiling in

freshwater snail, Limnaea peregra. A cross between a dextral (right-
coiled, clockwise) female and a sinistral (left-coiled, counter clockwise)
male produces all dextral offspring while a cross between a sinistral
female and a dextral male produces all sinistral offspring (fig. 28). These
coiling patterns result from dextral cleavage and sinistral cleavage during
embryonic development.
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 Fig. 28. Inheritance of shell
coiling in water snail.

Alfred Sturtevant (1923) proposed that Boycott’s results could be

explained by a maternal effect gene. In fig. 29, dextral (D) is dominant to
sinistral (d). When a dextral (DD) female parent is crossed with a sinistral
(dd) male parent, the offspring are all dextral (Dd). The reciprocal cross,
where a sinistral (dd) female is crossed
with a dextral (DD) male parent,
produced all sinistral (Dd) offspring.
When F1 individuals from the first cross
are crossed with F1 individuals from the
second cross, all of the offspring are
dextral although the genotypes are in a
1DD: 2Dd: 1 dd. Only in the F3 generation
does segregation in the ratio of 3:1
becomes apparent, since the individuals
of the F2 generation had the genotypes
—1DD; 2Dd, 1dd, 1/4 of them, on the
average, produce eggs developing into
sinistral individuals.

Fig. 29. Maternal inheritance governing

shell coiling in freshwater snail,
Limnaea peregra.

CONCLUSION: Phenotype of offspring is determined by the genotype of

the mother.

While in normal genetics the nucleus contains genes and they are
inherited in combination by the offspring, in this type of inheritance, the
genes are still inherited even if the nucleus is removed. This suggests
that some genes are in the CYTOPLASM.

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Cytoplasmic determinants are special molecules which play a very
important role during oocyte maturation in the female's ovary. During this
period, some regions of the cytoplasm accumulate some of these
cytoplasmic determinants, whose distribution is thus very heterogenic
(fig. 30).

Fig. 30. Unequal distribution of cytoplasmic determinants in the zygote

and embryo.

Figure 31 shows the inheritance of nuclear and cytoplasmic genome. Note

that while the female gamete contributes all its genome to the zygote, the
male gamete only contributes nuclear genome in a haploid dose. Aside
from the nuclear genome, the mitochondria and chloroplasts, which are
located in the cytoplasm, also contain DNA. That is why we use the term
maternal inheritance to refer to cytoplasmic inheritance.

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Female parent Male parent
AABBCC (diploid nucleus) aabbcc (diploid nucleus)
cp, mt (cytoplasmic genome) cp, mt (cytoplasmic genome)

Fig. 31. How the parents contribute to the zygote’s genome, both from the
nucleus and cytoplasm via plastids and mitochondria.

Sperms have to “travel light” as they move to meet the oocyte so basically,
they will contribute only their nucleus because they are structurally
designed to move efficiently (fig. 32).

Fig. 32. While sperm contributes only the nucleus, the oocyte contributes
practically everything.

PLASTID INHERITANCE
The next example is the variegation in 4 o’clock plant (Mirabilis jalapa)
(Table 1, fig. 33).
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Table 1. Offspring phenotype expected from various crosses.
FEMALE MALE Phenotype of Offspring
Green, variegated or
Green Green
white
Green, variegated or Green, variegated or
Variegated
white white
Green, variegated or
White white
white

Fig. 33. Reciprocal crosses showing inheritance of leaf color favoring

the phenotype of the maternal parent in the offpsing.

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In cross 1, the female parent has white leaves and all the offspring have
white leaves and when it is the male parent that has white leaves, all the
offspring will have green leaves because the female parent has green
leaves. Cross 2 involve a variegated plant crossed with another plant with
green leaves. If the parent with the variegation is a female, the offspring
can have the 3 possible phenotypes while if the male parent is variegated,
the offspring’s phenotype will still depend on the phenotype of the female
parent.

This pattern can be explained by looking at it from the cellular level (fig. 34
& 35). Leaf variegation is due to the presence of green and white plastids.

Fig. 34. White plastids can be found in the white regions

while green plastids can be found in the green
regions of the leaf of variegated plants.

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 Fig. 35. How the types of plastids present in the
leaves govern the color pattern.

Knowing that having purely green plastids can make leaves green while
having purely white plastids can make leaves white, it is easy to imagine
how a female parent plant with white leaves can only produce offspring
with white leaves and how a female parent with green leaves can produce
offspring with green leaves. In the case of a variegated female parent, all
three possible phenotypes can be found in the offspring; white leaves if
only white plastids are inherited, green leaves if only green plastids are
inherited and variegated if both green and white plastids are inherited.
And it will not matter what the phenotype of the male parent is.

CONCLUSION: Neither the genotype of the male gametophyte nor the

nuclear genetic constitution of the fertilized egg would be involved in the
control of this variation. It is ALWAYS the maternal phenotype that
prevails.

To give us an idea on the difference of the nuclear and mitochondrial

genome, see table 2 and 3.
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Table 2. Comparison between the Human nuclear DNA and mtDNA.

Characteristic Nuclear Genome Mitochondrial genome

Size ~3.3 x 109 bp 16,569 bp
Number of DNA 23 in haploid cells; Several thousand copies
molecule per cell 46 in diploid cells per cell (polyploidy)
Number of genes 37 including subunits for
~20,000 to 30,000
encoded respiratory complexes
Gene density ~1 per 40,000 bp ~1 per 450 bp
Frequently found in
Introns Absent in humans
most genes
Percentage of
~3% ~93%
coding DNA
AUA – methionine;
The universal genetic TGA – tryptophan;
Codon usage
code AGA & AGG – stop
codons
Mendelian inheritance
Mode of inheritance for autosomes and Exclusively maternal
the X chromosomes

To elaborate on the codon usage, table 3 compares nuclear and

mitochondrial codons among organisms.

Table 3. Codon Comparison between nuclear and mtDNA.

ORGANISM CODON NUCLEAR DNA mtDNA

Mammals AGA, AGG Arginine Stop codon

Invertebrates AGA, AGG Arginine Serine

Fungi CUA Leucine Threonine

AUA Isoleucine Methionine

All of the above
UGA Stop codon tryptophan

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MITOCHONDRIAL INHERITANCE
Mitochondrial DNA (mtDNA) of zygote is derived from the oocyte. A mother
will pass it to her children but only her daughter will transmit it to her
progeny.

Homoplasmy: the presence of a uniform collection of mtDNA; either

completely normal mtDNA or completely mutant mtDNA

Heteroplasmy: the presence of some mitochondria that have a mutation

in the mtDNA and some that do not (fig. 36)

Heteroplasmy is a rare condition and is often

associated with mitochondrial disease.

Fig. 36. Homoplasmy

vs heteroplasmy.

The rate of heteroplasmy formation is a product of random segregation

between wild type and mutant DNA occurring during early embryogenesis
(fig. 37).

Fig. 37. Random segregation of wild

and mutant mtDNA.
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Another interesting fact is that conditions that are transmitted via mtDNA
vary in terms of severity based on the number of bad mitochondria a cell
receives (fig. 38).

Fig. 38. Varying severity of mitochondrial diseases.

Inheritance of mitochondria

Mutation in mitochondrial genome in the yeast, Saccharomyces

cerevisiae, produces PETITE strains (fig. 39) which can grow on media
with only non-fermentable
carbon sources (ex:
glycerol and ethanol) and
form small anaerobic
colonies (that is why
petite) when grown in the
presence of fermentable
carbon sources such as
glucose. Yeasts are single-
celled ascomycetes fungi.
In the life cycle, diploid
and haploid adult
alternates, the former
reproducing by asexual
meiospores called
ascospores, the latter by
isogametes.
Fig. 39. How the petite
strains of yeast
are produced.
BIO105 Module 4 33 | P a g e
Since this difference can be observed only when such yeast cultures are
kept in an oxygen-containing environment, it is concluded that petite
mutants have a defective aerobic respiratory mechanism (fig. 40).

Fig. 40. The respiratory chain. The mitochondrial genome in petites

cannot code for cytochrome oxidase.

In fungi, Neurospora crassa, a number of mutations of mitochondria are

inherited via the female parent. In Neurospora crassa, POKY strain
(fig. 41) has low activity of respiratory enzymes due to defective
cytochrome complement in mitochondria. Cyt a and cyt b are absent and
cyt c is excessive. As a result, a poky mutant is slow-growing.

BIO105 Module 4 34 | P a g e
 Fig. 41. Comparison of poky and normal strains in
fungus, Neurospora crassa.

These crosses show that this trait can be inherited from the mother. If the
mother is a POKY strain, all of the offspring will be POKY while if the
mother is normal (wild-type), all of the offspring will be wild-type.

P Female poky X wild-type male P Female normal X male poky

F1 All POKY F1 All NORMAL

In humans, there are several conditions that can be inherited via the
mitochondrial genome (fig. 42).

BIO105 Module 4 35 | P a g e
Fig. 42. MtDNA and Human Heritable Conditions.

Mitochondrial disorders are clinically heterogeneous group of disorders

that arise as a result of dysfunction of mitochondrial respiratory chain.
There are more than 500 point mutations and 200 deletions.
Rearrangements in mtDNA have been associated with various diseases.

CYTOPLASMIC INHERITANCE IN HUMANS

Leber’s hereditary optic neuropathy (LHON) (fig. 43)

• Mutation in Electron Transport Chain
proteins, Cytochrome Oxidase and
ATPase
• Results to partial or complete blindness
from optic nerve degradation

Fig. 43. Eye of a person with LHON.

BIO105 Module 4 36 | P a g e
Kearns-Sayre Syndrome (KSS) (fig. 44)
• Neuromuscular defects due to large deletions in mtDNA
• Accumulation of pigments in retina

Fig. 44. The phenotype of a

person with KSS.

It is easy to follow mitochondrial inheritance in pedigree charts. It is clear

that when the mother is afflicted by a condition, all the children are too.
But only each female offspring can transmit it to all her children (fig. 45 &
46).

Fig. 45. Pedigree chart showing mitochondrial inheritance.

BIO105 Module 4 37 | P a g e
Fig. 46. Pedigree charts showing mitochondrial inheritance. Note that the
transmission is from the mother to all the children and for the
succeeding generations, from every female to all her offspring.

MITOCHONDRIAL MUTATION RATE

• The rate of mutation in mtDNA is 10 to 17 times higher than nuclear
gene.
• Several possible factors that may cause this high mutation rate can
include:
➢ insufficient DNA repair system
➢ lack of proteins such as histones
➢ spontaneous error arising during DNA replication

INFECTIVE HEREDITY

As shown in their role as vectors in recombinant DNA technology,

PLASMIDS are capable of self-perpetuation and independent
transmission and may therefore be considered as genetic units fully equal
to those in the chromosomes.
BIO105 Module 4 38 | P a g e
 Fig. 47. Cytoplasmic inheritance via plasmid.

Criteria for Extrachromosomal Inheritance:

1. Maternal Inheritance: In reciprocal crosses, progenies show
characteristics of their female parent. If chromosomal differences
can be ruled out, maternal inheritance can usually imply
transmission through the cytoplasm simply because the female
gamete provides more cytoplasm to the zygote.
2. Non-Segregation: Failure to show segregation under appropriate
circumstances may indicate extrachromosomal heredity.
3. Non-Mendelian Segregation: when segregation occurs but in a
manner that is inconsistent with chromosome segregation, non-
chromosomal factors might have accounted for the phenotypic
variations.
4. Indifference to nuclear substitution: When a heritable characteristic
persists even if the nucleus is replaced by a different one, the
control of the nuclear genetic material over the characteristic may
be ruled out.
5. Infection-like transmission: When a heritable phenotype is
transmitted without nuclear transmission, it seems unlikely that
chromosomes control that phenotype.

BIO105 Module 4 39 | P a g e
 EXERCISE 7: Extrachromosomal Inheritance
LEARNING OBJECTIVES: At the end of this exercise, you are
expected to demonstrate how cytoplasmic inheritance occurs using
color-coded illustrations.
Procedure:
Download the worksheets from the MOLE classroom. Complete the
necessary information. Save your file as your family names (Section) –
Ex7 following the basic e-mail guidelines.

QUANTITATIVE INHERITANCE

1. Inheritance of Quantitative Characters

Types of Quantitative Trait:

a. continuous trait
• continuous gradation from one phenotype to the next; continuum of
phenotypes
• examples: growth rate, crop yield, weight
b. meristic trait
• phenotype falls into discrete, integral categories; discontinuous
• examples: ability to roll tongue, litter size in cats
c. threshold trait
• only 2 or a few phenotypic classes, but their inheritance is
determined by multiple genes and environment
• expression implies affected individuals has liability over the
threshold
• examples: diabetes, schizophrenia, certain cancers

Continuous traits

The examples in fig. 48 show the gradation associated with continuous

type of traits. Both extremes are on opposite ends and the average are at
the center.

BIO105 Module 4 40 | P a g e
Fig. 48. Normal distribution of phenotypes belonging to continuous traits.

Related to skin pigmentation is the color of coat in horses (fig. 49). Take
note of the color range from darkest (leftmost) to the lightest (rightmost).

Why do quantitative traits show the

continuous distribution of
phenotypes?

Fig. 49. Gradation of coat color in

horses.

In general, their values in a population

follow the NORMAL DISTRIBUTION (also
known as Gaussian distribution or bell
curve). These curves are characterized
by the mean (mid-point) and by the
variance (width). Often standard
deviation, the square root of variance, is
used as a measure of the curve’s width
(fig. 50).
Fig. 50. Other statistical values
that are important in the
analysis of continuous
traits.

BIO105 Module 4 41 | P a g e
Meristic traits include those which are of the and/or type like hairline can
be widow’s peak or straight, earlobes can be attached or free/unattached,
or those counts like number of eggs laid by the hen or size of litter in cats
(fig. 51). Mendelian traits are discontinuous traits (fig. 52).

Fig. 51. Examples of discontinuous traits.

Fig. 52. Discontinuous traits of garden peas.

BIO105 Module 4 42 | P a g e
A threshold trait has an underlying quantitative distribution, but the trait
appears only if a threshold is crossed. Only those individuals exceeding
the threshold on the liability scale will express the trait (fig. 53).

Fig. 53. Threshold traits are represented by the shaded regions.

Liability / threshold model

All of the factors which influence the development of a polygenic disorder,

whether genetic or environmental, can be considered as a single entity
known as LIABILITY (fig. 54). The liabilities of all individuals in a population
form a discontinuous variation, and
therefore CANNOT be plotted in a
Gaussian fashion, however, the curves
for these relatives will be shifted to the
right, with the extent to which they are
shifted being directly related to the
closeness of their relationship to the
affected index case.

Liability is not directly observable.

Fig. 54. Notice how mean liability can

shift to the right in related
individuals (bottom curve).
BIO105 Module 4 43 | P a g e
Consequences of Liability Model:
• The incidence of the condition is greatest among relatives of the
most severely affected patients.
• The risk is greatest among close relatives and decreases rapidly in
more distant relatives.
• If there is more than one affected close relative then the risks for
other relatives are increased.

2. Multiple Genes

Polygenic trait is one whose phenotype is influenced by more than one

gene.

Polygene – any group of non-allelic genes, each having a small quantitative

effect, that together produce a wide range of phenotypic variation;
- also called multiple factor, quantitative gene.

Number of Genes in Polygene Systems:

• There are several but not an unlimited number of genes involved in
the expression of a polygenic trait.
• The loci act in concert in an additive fashion.
• The phenotype is a result of the interaction of the genotype and the
environment.

But not all human traits that exhibit normal distribution are
polygenic.

3. Regression to the Mean (by Francis Galton) (fig. 55)

Fig. 55. Comparison of the heights

of father and son.

BIO105 Module 4 44 | P a g e
Most offspring of extreme parents are more average than their parents.
This can be explained by the following example:

Ex: PQRST = tallness genes (Blue: father; Pink: mother; Green: son)
PpQQRRsstt x PPQqRRSstt = PPQqRRSstt
PPQqRRSsTt x ppQqRrSsTt = PpQqRrSsTt

The product of which of the above crosses matches the info in the graph?
Answer: Count which has the higher number of upper-case letters.
Tallness genes, remember?

However, in this example below, colors are used to identify which are
inherited from which parent:
PPQQRrSsTt X PpQqRRSsTT = PPQqRrSsTT Relative to his p
Relative to his parents, how tall is this offspring?

Answer: Examine the genotype of the child. The upper-case letters being
the tallness genes, can be seen to be partly coming from each
parent. There are 4 blue genes (from father) and there are 3 pink
genes (from mother). So, in analysis, there are more tallness
genes from the father, who belong to the gender that is generally
taller. The tall males are usually taller than the tall females. The
fact that since there are almost half tallness genes from the
mother, the son is now expected to be shorter than the father but
taller than the mother.

4. Statistical Analysis of Quantitative Traits

Because segregating populations exhibit a continuous distribution for

quantitative traits, they cannot be analyzed using traditional Mendelian
genetic techniques. They are described by statistical parameters (fig. 56).

Fig. 56. Statistical formulas used in analyzing continuous traits.

BIO105 Module 4 45 | P a g e
Genetic Sources of Variation
• can themselves be divided into several subcategories, including:
➢ additive variance (VA)
➢ dominance variance (VD) and
➢ epistatic variance (VI).

Together, the values for each of these subcategories yield the total
amount of genetic variation (VG) responsible for a particular phenotypic
trait: V =V +V +V
G A D I

Additive variation (VA) represents the cumulative effect of individual loci;

therefore, the overall mean is equal to the summed contribution of these
loci.
Dominance variation (VD) represents interaction between alleles.
If a trait is controlled by a dominant allele, then both homozygous and
heterozygous individuals will display the same phenotypic value.

Components of Phenotypic Variance

All instances of phenotypic variance (VP) within a population are the result
of genetic sources (VG) and/or environmental sources (VE).
V =V +V
P G E

The total phenotypic variation of a population (V P) is the sum of the

variation in additive (A), dominance (D), gene-interaction (I),
environmental (E) and gene-environment interaction (GE) effects:
V =V +V +V +V +V
P A D I E GE

Meaning:
VA = Expression of a trait IS NOT controlled by the other allele at the locus.
VD = Expression of a trait IS affected by the other allele at the locus.
VI = Expression of a trait is affected by alleles at another loci.
VGE = A given genotype is superior to another in one environment
(differential local adaptation).

BIO105 Module 4 46 | P a g e
Heritability

Plant and animal breeders should know:

• how much of the phenotypic variability of a trait is due to genetic
variance
• how much is due to non-genetic environmental factors. This will give
the breeder an idea on how to improve the quality of the products.

2
broad-sense heritability: h
h == V
2
VG/V
/ VP
G P

It is even more useful to know what proportion of the phenotypic variation

is due to additive genetic effects.
The heritability (narrow-sense) of a trait is the proportion of the total
phenotypic variation that is due to heritable (additive genetic) effects:
2
h =V /V
A P

Sample Problems and how they are solved:

1. Two inbred lines of beans are intercrossed. In the F1, the variance in
bean weight is measured at 1.5. The F1 is selfed; in the F2, the variance
in bean weight is 6.1. Estimate the broad heritability of bean weight in
the F2 population of this experiment.

Solution:
variance in the F1 population must be VE because all individuals must
be of identical genotype.
V =V +V
F2 variance must be VG+E or P G E

VE = 1.5
Hence, we can estimate:
VE + VG = 6.1
Therefore, VG = 6.1 – 1.5 = 4.6

2
and broad heritability is h = V / V = 4.6/6.1 = 0.75 or 75%
G P

BIO105 Module 4 47 | P a g e
2. In an experimental population of Tribolium (flour beetles), the body
length shows a continuous distribution with a mean of 6 mm. A group of
males and females with body lengths of 9 mm are removed and
interbred. The body lengths of their offspring average 7.2 mm. From
these data, calculate the heritability in the narrow sense for body length
in this population.

Solution:
selection differential or VP: 9 − 6 = 3 mm
selection response or VA: 7.2 − 6 = 1.2 mm

Therefore, the heritability in the narrow sense is:

2
h = V / V = 1.2/3 = 0.4 or 40%
A P

Heritability (h2) is the proportion of variability that can be passed on from

parent to offspring.
h2 = 0 means that none of the phenotypic variance among individuals is
due to additive genetic differences (VA=0)
So, offspring will NOT closely resemble their parents for the trait of
interest for genetic reasons.
When h2 = 1, all the variation among individuals is due to heritable genetic
differences (VP=VA) and offspring will resemble their parents very closely.

Some HERITABILITY facts:

Its value can range from 0 (no genetic contribution) to 1 (all differences on
a trait reflect genetic variation).
It does NOT apply to individuals but to populations (reflects the fact that
all individuals in any species of living things differ in many ways among
each other.)
A heritable trait is not necessarily adaptive. Example:
heart disease

Every gene must express itself in an environment, and all

environments must act on the genotype an individual gets. (Recall that
some organisms have different genotypes but had the same phenotypes
as a result of environment.)
BIO105 Module 4 48 | P a g e
Finding no heritability for the trait is not a demonstration that genes are
irrelevant; rather, it demonstrates that, in the particular population
studied, there is no genetic variation at the relevant loci or that the
environments in which the population developed caused different
genotypes to be expressed as the same phenotype.
A high heritability does not mean that a trait is unaffected by
its environment.
In general, the heritability of a trait is different in each population and in
each set of environments; it cannot be extrapolated from one population
and set of environments to another.

Examples of non-heritable traits:

the language you speak

which particular church

you worship in

trait that results from physical damage

BIO105 Module 4 49 | P a g e
Examples of heritable traits

dimples Hip dysplasia in dogs

myopia
Mass of the brain

Twin studies
Twin studies have shed light on a lot of genetic concerns. Remember
concordance and discordance? Theoretically, any phenotypic
differences between monozygotic twins are environmental, because we
know that they share the most similar genome.
However, phenotypic differences between dizygotic twins can be due to
both environmental and genetic differences.

If the heritability is high,

• monoygotic twins will normally be very similar for a trait.
• dizygotic twins will be less similar.
If the heritability is low,
• monozygotic twins may not be much more similar than dizygotic
twins.

BIO105 Module 4 50 | P a g e
If variation for a trait is completely heritable,
• monozygotic twins should be have a correlation near 1.
• dizygotic twins should have a correlation near 0.5.

EXERCISE 8: Inheritance of Traits

LEARNING OBJECTIVES: At the end of this exercise, you are
expected to:
• differentiate quantitative from qualitative traits, and
• perform simple crosses to illustrate the inheritance of some
polygenic characters.
Procedure:
A. Create A Kid Simulation
We will examine some easily seen human traits or characteristics
that give each person their uniqueness. We will then pair up and see
what type of children we might have, assuming that we’re to
“reproduce”.
According to Mendel genetics, genes come in two “versions”: the
dominant and the recessive one. When and individual is a mixed of
both versions (called “alleles”), the dominant allele masks the
presence of the recessive one and the observable characteristic
(called phenotype) is the dominant one. However, genes not always
show the dominant/recessive behavior. One different alleles’
interaction appears when there are two versions or alleles of the
same gene and three possible genotypes, but there is no real
dominance of one allele over the other. In this case, called
incomplete dominance, a third phenotype shows when the individual
is heterozygous (hybrid). For example, hair type can be curly, wavy,
or straight. There are three phenotypes but only two alleles for that
gene (C or c). Individuals having the alleles CC will have curly hair,
individuals having the alleles Cc will have a wavy hair, and individuals
having the alleles cc will have straight hair.
1. Choose 2 members of the group to be the “parents” and use the
following information to fill in the data table below with the
genotypes of both students.
BIO105 Module 4 51 | P a g e
 TRAITS
1-Hair type: Naturally curly (CC), wavy (Cc), or straight (cc)
2-Widow’s peak: Forehead hairline forms a point (widow’s peak)
in the center. Present (Ww), absent (ww)
3-Eyebrows: Bushy (Bb) or fine (bb)
4-Color of the eyebrows: Darker (HH), lighter (hh), or same (Hh)
than/with the hair color
5-Eyelashes: Long (Ll) or short (ll)
6-Eye color: Non-blue eyes (Ee) is dominant over blue (ee). Note
that we are really oversimplifying this because eye color is
determined by several genes, at least 8, and is termed a
quantitative trait
7-Freckles: Present (Ff) or absent (ff)
8-Earlobes: Free or unattached earlobes (Uu) and attached
earlobes (uu)
9-Dimples: Present (Dd) and absent (dd)
10-Tongue rolling: This is the ability to roll the tongue into a U-
shape, quite an adaptive trait eh? Imagine impressing a potential
partner with this ability! Rolling (Rr) and Non-rolling (rr)

2. Notice that some of these traits exhibit complete dominance

(Mendelian situation, where there is one dominant and one
recessive form of the gene) and some show incomplete
dominance (where a third possible phenotype appears if the
individual is heterozygous). Select in the table the right genetic
situation for each trait (DOMINANCE / INCOMPLETE DOMINANCE)
3. If you show the dominant condition for any of these traits, then
assume you are heterozygous for that trait. (e.g. if you are a
tongue-roller, assume you have Rr in your genes). If the trait
shows incomplete dominance, write the genotype you know you
have.
4. Fill-up Table 8.1 in your answer sheet.
5. For each parent’s genotype (example= Dd) flip a coin to decide
which allele is being passed to the baby. The head of the coin
represents the dominant allele while the tail represents the
recessive allele. You will have to flip a coin 10 times for all 10 traits.
6. Flip a coin one more time in order to decide the sex of the baby!
The head represents the Male sex while the tail represents the
Female sex. Record the sex and the name of the baby in your
answer sheet.
BIO105 Module 4 52 | P a g e
 7. Use Table 8.2 provided in the answer sheet to represent the alleles
each “parent” is contributing to the baby.
8. In the same table, combine the alleles and determine the baby’s
genotype.
9. Knowing the genotype and the type of genetic interactions, obtain
the phenotype for each trait.
10. Make a drawing of the child’s face and paste it as a picture in the
space provided in your answer sheet.

B. Polygenics Penny Lab

Polygenic Gamete (Sex Cell) Formation: A man is 5 feet 7 inches tall,
has 3 heads (tall genes) and 3 tails (short genes). He will give 3
genes to his child. These 3 genes can be given randomly. He can
give 3 tall genes and no short gene, 2 tall genes and 1 short, 1 tall
gene and 2 short, 0 tall gene and 3 short. These are all the possible
combinations that he can give his child. The height of the mother will
dictate the genes that she will give to the child. The combination of
the mother's genes and the father's genes will decide the height of
the child.

Procedure:
1. Assuming both parents carry three tall genes and three short
genes, you will model the inheritance of height for N (=number of
students in the entire class) different offspring. Flip a coin six
times to determine how many tall and short genes each of you
inherit. Head represents a tall gene and tail represents a short
gene. (This is just a model. Your real height is not asked here.)
2. Make a consolidated record using the google sheets in [Link] so
that all members of the class can input their information.
Suggestion: put each of the “heights” as a column heading so that
members of the class will only need to write their names under the
appropriate column. Someone from your class should
VOLUNTEER to create the file and then share the link with the
entire class and the laboratory teacher.
Once class data is complete, record the class data in the table 8.3
in the answer sheet.
BIO105 Module 4 53 | P a g e
 3. Construct a bar graph of your class results.
Note: Use the Height table below as reference in answering
questions in the answer sheet.
Coin Situation Height
0 Tail 6 Heads 6 feet
1 Tail 5 Heads 5 feet 11 inches
2 Tails 4 Heads 5 feet 9 inches
3 Tails 3 Heads 5 feet 7 inches
4 Tails 2 Heads 5 feet 5 inches
5 Tails 1 Head 5 feet 2 inches
6 Tails 0 Head 5 feet

Remember: Heads are tall genes. Tails are short genes.

References:
Polygenic traits, karyotypes, create a kid simulation. [Link]
[Link]/lab_exe.
QUANTITATIVE TRAITS - QUALITATIVE TRAITS AND ...
[Link]
Polygenics Penny Lab. [Link].

Download the worksheets from the Google Classroom/MOLE classroom.

Complete the necessary information. Save your file as your family names
(Section) – Ex8 following the basic e-mail guidelines.

exactly like my
parents?

BIO105 Module 4 54 | P a g e
POPULATION GENETICS

POPULATION: a group of individuals of the same species that live in the

same area and interbreed (interbreeding causes production of fertile
offspring) (fig. 57)

Fig. 57. Populations.

The study of genetic variation within populations involves the examination

and modelling of changes in the frequencies of genes and alleles in
populations over space and time.

FOCUS: species or population

Each member of the population receives its alleles from other members of
the gene pool (its parents) and passes them on to other members of the
gene pool (its offspring). Population genetics is the study of
the variation in alleles and genotypes within the gene pool, and how this
variation changes from one generation to the next.
BIO105 Module 4 55 | P a g e
GENE POOL: the collection of all the alleles of all of the genes found within
a freely interbreeding population (fig. 58)

Fig. 58. A representation

of a gene pool.

1. Gene Frequencies and Equilibrium and the HW law

GENE FREQUENCY (allele frequency): the proportion of all alleles in all

individuals in the group in question which are of a particular type.

Example: 40 individuals which are AA

47 individuals which are Aa
13 individuals which are aa

GENOTYPE

AA Aa aa TOTAL

# of individuals 40 47 13 100

# of A alleles 80 47 0 127

# of a alleles 0 47 26 73

Total # of alleles 200

BIO105 Module 4 56 | P a g e
Allele frequency of A: 127/200 = 0.635
pA= 0.635
pa = 73/200 = 0.365 = 1- pA

GENOTYPE FREQUENCY: the proportion of individuals in a group with a

particular genotype.
40AA; 47Aa; 13aa = 100 Total individuals
pAA = 40/100 = 0.4
pAa = 47/100 = 0.47
paa = 13/100 = 0.13
Hardy-Weinberg Equation: used to estimate frequency of alleles in a
population
p = the frequency of the dominant allele (A)
q = the frequency of the recessive allele (a)
For a population in genetic equilibrium:
p + q = 1.0
(The sum of the frequencies of both alleles is 100%.)

(p + q)2 = 1 so
p2 + 2pq + q2 = 1

where
p2 = frequency of AA
2pq = frequency of Aa
q2 = frequency of aa

Fig. 59. Hardy–Weinberg proportions for two alleles. The horizontal axis
shows the allele frequencies p and q and the vertical axis shows
the expected genotype frequencies. Each line shows one of the
three possible genotypes. If frequency of q is high, p is expected
to be low; if q is low, p is high.

BIO105 Module 4 57 | P a g e
Sample Problems:
1. In a population of fruit flies, the allele for red eyes is dominant to the
allele for white eyes. If 50% the population is heterozygous and 25% is
homozygous for white eyes, what is the frequency of the allele for red
eyes?
A. 0.75 B. 0.5 C. 0.33 D. 0.25
2. The allele frequencies for a population displaying Hardy-Weinberg
equilibrium were found to be 0.4 dominant and 0.6 recessive. What
percentage of the population is homozygous dominant?

Assumptions of the HW model:

1. Organism is diploid.
2. Reproduction is sexual.
3. Generations are non-overlapping.
4. Mating occurs at random.
5. Population size is very large.
6. Migration is zero.
7. Mutation is zero.
8. Natural selection does not affect the gene in question.

From these assumptions, we can identify the Factors that affect in Gene
Frequencies:
a. mutation
b. selection
c. migration
d. genetic drift
e. environmental diversity
f. non-random mating patterns

MUTATION: the primary source of new alleles in a gene pool. It is a

permanent change in the DNA sequence that makes up a gene. It ranges
in size from a single DNA base to a large segment of a chromosome. It is
considered as the ultimate source of genetic variation and therefore of
evolution (fig. 60).

Mutations are the source of variation, but the process of mutation does
not itself drive evolution. The rate of change in gene frequency from the
mutation process is very low because spontaneous mutation rates are low.
The mutation rate is defined as the probability that a copy of
an allele changes to some other allelic form in one generation.

BIO105 Module 4 58 | P a g e
 Fig. 60. Mutation of the
antennae of a
beetle.

NATURAL SELECTION: the differential reproduction of genotypes (fig.

61.)

In many cases, the effects of natural

selection on a given allele
are directional. The allele either
confers a selective advantage,
and spreads throughout the gene
pool, or it confers a selective
disadvantage, and disappears from it.
In other cases, however, selection
acts to preserve multiple alleles within
the gene pool and a balanced
equilibrium is observed. This
situation, labelled balanced
polymorphism, can arise because of a
selective advantage for individuals
heterozygous for a given allele.

Fig. 61. Natural Selection favoring

brown beetles.

RELATIVE FITNESS: ability to survive in an environment long enough to

reproduce. It also refers to the fitness of a genotype (fig. 62)

BIO105 Module 4 59 | P a g e
 Fig. 62. Relative fitness. The red alleles
have the greatest value from
among the alleles in the
population.

SELECTION AND VARIABILITY:

There are 3 types of selection. Red line represents before selection and
blue line represents after selection.

Disruptive selection selects against the average individual in a population

(fig. 63).

Fig. 63. Disruptive selection.

This type of population would show phenotypes of both extremes, but have
very few individuals in the middle. Disruptive selection is the rarest of the
three types of natural selection. There is a great change in the normal bell
curve and what can be seen now is like two separate bell curves. There
are peaks at both extremes and a very deep valley in the middle.
Disruptive selection can lead to speciation, and form two or more different
species in areas of drastic environmental changes. It can be influenced
by human interaction, like in the example in fig. 64 on the population of
London’s peppered moths.

BIO105 Module 4 60 | P a g e
 Fig. 64. Different colorings in
peppered moth are
favored for survival
in a specific
environment.

In rural areas, almost all of the peppered moths were a very light color.
However, these same moths were very dark in color in industrial areas.
Very few medium-colored moths were seen in either location. It seems that
the darker colored moths survived predators in the industrial areas by
blending in to the polluted surroundings. The lighter moths were seen
easily by predators in industrial areas and were eaten. The opposite
happened in the rural areas. The medium-colored moths were easily seen
in both locations and were therefore very few of them left after disruptive
selection.

Stabilizing selection favors the intermediate variants (fig. 65).

Fig. 65. Stabilizing selection.

This is probably the most common type of natural selection. It shows that
the most common phenotype has the best adaptation but it reduces
variation by selecting against alleles that produce more extreme
phenotypes at either end of the phenotypic range. Thus, it resulted to a
narrower bell-shaped curve. Figure 66 shows the trimming of the number
of eggs in robins to maximize survival of the young.
BIO105 Module 4 61 | P a g e
 Fig. 66. Reducing the number of eggs in robins ensures more fit
offspring.

If a bird lays too few eggs, there's too great of a chance that predators will
eat all of the eggs and her genes won't be passed on to the next
generation. On the other hand, if she lays too many eggs, there's a high
chance that some won’t hatch, or she won't be able to find enough food to
feed them all, and they could all starve, which again wouldn't allow her
genes to be passed on. The same thing happens with other animals that
must care for their offspring, such as mammals. Too few offspring means
that none may make it to reproduction, but on the other hand, the mother
can't effectively care for too many offspring.

A second example is the in a population of butterflies. The extreme colors

(dark and light) are reduced and the more intermediate colors increase in
number (fig. 67). Those light-colored ones have the tendency to stand out
against a dark background and those which have dark wings tend to stand
out against light background.

Fig. 67. Stabilizing

selection in
butterflies based
on wing colors.

BIO105 Module 4 62 | P a g e
Third example is birth weight. Babies that are too light are often under-
developed and therefore have a reduced chance of survival. Babies that
are too heavy are usually larger and therefore they may be an increased
risk of complications during birth. So, an ideal weight is favored.

In directional selection, an extreme phenotype is favored over other

phenotypes, causing the allele frequency to shift over time in the direction
of that phenotype (fig. 68).

Fig. 68. Directional selection.

This type of natural selection is most common during periods of
environmental change. Directional selection favours alleles that produce
phenotypes at one extreme of a phenotypic range. Selection reduces
variation at one extreme of the range while favoring variants at the other
end. The resulting bell-shaped curve shifts in the direction of the selection.

An example is the size of horses. In the early generations, the small ones
were favored. After a long time, the intermediate sizes were favored and
much, much later, the large
horses are favored. The shift
from a time when the small
horses were the in thing to the
present sizes shows the
directional selection and the
reason is that the present
environment allows these horses
to attain their present sizes (fig.
69).

Fig. 69. Directional selection in

horses over time based
on body size.

BIO105 Module 4 63 | P a g e
Another example is the peppered moth. The shift from cleaner
environment to a highly industrialized one has made the conditions safer
for the dark-colored ones (fig. 70).

Fig. 70. Directional

selection in
peppered moths
over time based
on wing colors.

In all of these examples, the alleles responsible for the favored phenotypes
are the ones which increase while those which are selected against
decrease over time.

SELECTION AND MATING

Sexual selection occurs when individuals within one sex secure mates and
produce offspring at the expense of other individuals within the same
sex. Sexual selection is among the most powerful of all evolutionary forces
(fig. 71).

a b

Fig. 71. Sexual selection in (a) lions,

(b) frogs and (c) birds usually
favors those which are most
fit in terms of reproduction.
The gender that selects can
c recognize the qualities that
spell reproductive success.
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 POPULATION SIZE: increase
in population causes increase
in gene frequencies (fig. 72).

Fig. 72. Representation of a

population of dogs
showing its gene
pool. For every
individual added to
it, alleles (genes)
are also added.

GENETIC DRIFT occurs as the result of random fluctuations in the transfer

of alleles from one generation to the next, especially in small populations
formed, as a result of bottleneck effect and founder effect. It results to a
reduction in the variation within the population (fig. 73), and an increase in
the divergence between populations. If two populations of a given species
become genetically distinct enough that they can no longer interbreed,
they are regarded as new species (a process called speciation).

Fig. 73. The reduction and finally disappearance of the genes for
white flower as a result of genetic drift.

Another example is the green and brown beetles (fig. 74). The death of the
green beetles due to an “adverse” event (being stepped on!!!) reduced the

BIO105 Module 4 65 | P a g e
genes for the green phenotype and it is highly possible that in the
succeeding generation, those genes will no longer exist.

Fig. 74. Loss of genes for the green

beetles.

Bottleneck effect: adverse environmental conditions cause the reduction

in the population size which also implies reduction in the number of alleles
(fig. 75). So, the composition of future generations will depend on the
reproductive success of the surviving individuals. Meaning whatever
genes they carry are the ones that can exist in the future generations.

Fig. 75. How any adverse environmental condition can drastically reduce
the population, leaving only few choices of alleles.

Founder effect: geographical separation of a subset of the population.

When some organisms leave a population to establish in a new location,
they start with whatever they have, few that may only be. The next
generation starts from there (fig. 76).

BIO105 Module 4 66 | P a g e
Fig. 76. Individuals with only one type of allele start a new population in a
new location. The result is a population with low variability.

As genetic drift progresses, heterozygosity decreases. Genetic variance

within populations decreases. Genetic variance among populations
increases.
Random genetic drift can continue until one allele is fixed or lost. When an
allele is fixed, it reaches a frequency of 1 (= 100%). The allele that is lost
will have a frequency of 0 (does not exist).

Without selection, mutation or migration, eventually every allele will be

either fixed or lost. That is why in population studies, large population size
is encourage because it ensures that the results are not due to chance.

MIGRATION: movement of individuals from one population to another (fig.

77, 78); translated as gene flow (fig. 79)

Fig. 77. Migration of birds to another place adds

genes to their destination population.

BIO105 Module 4 67 | P a g e
 Fig. 78. Humans travel
and some
decide to stay
in another
location.

Both these examples show there is addition of genes to the populations

where they head to and reduction of the genes from the populations that
they left behind. If there is constant transfer of organisms from one place
to another, ultimately these can equalize gene frequency.

Looking at migration as gene flow, take note of the movement of 2

populations of deer which used to be completely separated from each
other by a mountain range. With the creation of a mountain pass over time,
the deer can now go out of their location and move to the other side.

Fig. 79. Migration of some

deer means gene
flow from one
population to
another.

BIO105 Module 4 68 | P a g e
MATING SYSTEMS

Random mating (fig. 80): mate choice is independent of phenotype and

genotype

Non-random mating changes genotype frequency but not allele

frequency:
Positive Assortment (fig. 81): mate choice is dependent on similarity of
phenotype
Negative Assortment (fig. 82): mate choice is dependent on dissimilarity
of phenotype
Inbreeding (fig. 83): mating with relatives at a
rate greater than expected by chance

Fig. 80. Random mating in beetles. Choosing a

mate from among different colors so
each one has an equal chance of being
chosen.

Fig. 81. Positive assortative mating. Choice is based on

similarity (same IQ, same race, same social
class, same color and height)

BIO105 Module 4 69 | P a g e
Another example: Plants mate with other plants with same flowering time.

Positive assortment:
• increases homozygosity (prevents HW equilibrium)
• does not affect allele frequency
• dominance dilutes its effect
• affects only those genes related to the phenotype by which mates
are chosen

Fig. 82. Negative assortative mating. It is a case of opposites attracting.

Negative Assortment/disassortative mating:

• yields an excess of heterozygotes (compared to HW)
• does not affect allele frequencies *
• dominance dilutes its effect
• Increases the rate to equilibrium of alleles among loci (because
linkage phases are disrupted by recombination in double
homozygotes).

BIO105 Module 4 70 | P a g e
Inbreeding (fig. 83) alone does not change allele frequencies, but
inbreeding does change genotype
frequencies. It can affect allele
frequencies, by changing how
selection operates.

Fig. 83. A family that results from

inbreeding (the tall man is
not a family member but
represents the height
commonly found in their
population).

Inbreeding and assortative mating are not the same. Inbreeding is the
preferential mating between relatives so these are individuals who
practically share some genes. Although it can be a mating of dissimilar
individuals, over time they can become more and more similar because
they come from the same line.
• Inbreeding can result to excess homozygotes.
• Inbred individuals usually have lower fitness than outbred individuals
(inbreeding depression)

2 possible reasons for inbreeding depression:

(1) deleterious recessive alleles
(2) overdominance

The most extreme case of inbreeding is self-fertilization which occur in

many plants and some animals. It can easily make the population
homozygous because every generation of self-fertilization can decrease
percentage of heterozygosity by 50%. The effect is thus similar to genetic
drift in small populations, which can decrease heterozygosity and
increase homozygosity. In the case of inbreeding in large populations,
however, allele frequencies stay the same and homozygosity increases,
whereas in the case of drift, allele frequency changes and homozygosity
increases. Drift causes only small departures from Hardy–Weinberg;
those caused by inbreeding can be extreme.

BIO105 Module 4 71 | P a g e
To describe the amount of inbreeding in a population, the coefficient of
inbreeding (F) can be computed. F quantifies the probability that the two
alleles of a given gene in an individual are identical because they are
descended from the same single copy of the allele in an ancestor. The
greater the value of the greater the reduction in heterozygosity relative to
that expected from the Hardy–Weinberg expectation.
• If F = 1, all individuals in the population are homozygous, and both
alleles in every individual are derived from the same ancestral copy.
• If F = 0, no individual has two alleles derived from a common
ancestral copy; genotypes are in Hardy-Weinberg proportions
because observed heterozygosity and expected heterozygosity are
equal.

Outbreeding and Hybrid Vigor

Outbreeding, the reverse case of inbreeding, means production of
offspring through mating between individuals unrelated or distantly
related by ancestral descendent. The degree of outbreeding can be
measured with coefficient of inbreeding, F = 0 or tending to 0, depending
on the genetic distance between the parents. Outbreeding is different
from random mating in that the mating is limited between some unrelated
genotypes or individuals rather than random in the population.

Organisms exhibit a variety of mechanisms that promote outbreeding.

Dioecy is the major way in animals but rare in plants. Individual plants have
either male (staminate) or female (pistillate) flowers, so this ensures that
outbreeding will always occur. Many flowering plants exhibit a modified
type of dioecy in which some individuals have flowers of one sex but others
have bisexual (perfect) flowers.

In monoecious organisms, there are various mechanisms to promote

outbreeding, such as maturation of gametes at different times in imperfect
flower plants and heteromorphic and homomorphic of perfect flower
plants.
Outbreeding can increase the genetic diversity and introduce elite alleles
into the breeding population. In other words, it can promote an increase
in phenotypic variability within a population. This generally enables plants

BIO105 Module 4 72 | P a g e
to adapt to a wider range of environmental conditions and increases the
likelihood for survival and evolutionary change.

Disadvantages of Outbreeding:
• it requires a transfer of gametes between individuals. If individuals
are far apart, or if pollinators are scarce, sexual reproduction may
not occur at all in obligately outbreeding species.

• continued inbreeding of outbreeding species leads to loss of vigour

EXERCISE 9: Genes in Population

LEARNING OBJECTIVES:
At the end of this exercise, you are expected to:
• calculate gene and genotypic frequencies in a population under
random mating; and
• demonstrate the effect of selection, migration, and genetic drift
on gene or genotypic frequencies in a population.
Once you get to this part, it is assumed that you have already studied
through the concepts on population genetics, noting that each
individual being diploid has 2 alleles which can be any of the following:
2 dominants (homozygous dominant), 1 dominant and 1 recessive
(heterozygous) or 2 recessives (homozygous recessive).
For example, in a population with 50 individuals with genotype MM,
25 individuals with genotype Mm, and 10 individuals with genotype mm. To
compute the gene frequency of the M allele, the ratio of all the M alleles in
the population to all gene M alleles (M or m) needs to be determined. Since
homozygous individuals have two copies of the same allele, the gene
frequency should be multiplied by 2. The different gene and genotypic
frequencies can be computed as follows:

BIO105 Module 4 73 | P a g e
 number of a particular allele in a population
Gene Frequency =
Total number of all the alleles of the same gene in a population

number of M alleles
𝑓M =
number of M and m alleles
( 2 x number of MM individuals)+ number of Mm individuals
= 2 x total number of individuals

(2 x 50) + 25 125
= = 170 = 0.7353 = 73.53%
2 x 85

number of m alleles
𝑓m = number of M and m alleles

( 2 x number of mm individuals)+ number of Mm individuals

= 2 x total number of individuals

(2 x 10) + 25 45
= = = 0.2647 = 26.47%
2 x 85 170

Hence, 73.53% of all the genes are M alleles while 26.47% are m alleles.
number of a particular genotype in a population
Genotype Frequency =
Total number of individuals in a population

number of MM individuals 50
𝑓MM = total number of individulas = 85 = 58.82 = 58.82%

number of Mm individuals 25
𝑓Mm = total number of individulas = 85 = 0.2941 = 29.41 %

number of mm individuals 10
𝑓mm = total number of individulas = 85 = 0.1176 = 11.76%

Thus, in the given population, 58.82% of all individuals have a genotype of

MM, 29.41% have Mm, and 11.76% have mm.

In a large population where mating is random, no effect of recurrent

mutation, no selection against any phenotype, and no migration in or out
of the population, the gene (allele) and genotypic frequencies will remain
constant. This state is called Hardy-Weinberg equilibrium. Here, the
frequency of the dominant allele is represented by 𝑝 while the frequency
of the recessive allele is represented by 𝑞. In any population, the sum of
the frequencies of the alleles of a gene is always equal to one; that is, 𝑝 +
𝑞 = 1. If a gene is in Hardy-Weinberg equilibrium in a population, the gene
frequencies in both male and female members would be equal; that is, 𝑝
female= 𝑝 male, and 𝑞 male= 𝑞 female. If this condition is satisfied, then the

BIO105 Module 4 74 | P a g e
mathematical relationship of the genotype frequencies can be derived
from a cross between males and females in the population; that is:

𝑝2 (𝑀𝑀) + 𝑝𝑞(𝑀𝑚) + 𝑝𝑞(𝑀𝑚) + 𝑞 2 (𝑚𝑚) = 1

𝑝2 + 2𝑝𝑞 + 𝑞 2 = 1

Also, at equilibrium, the frequencies of the homozygous genotypes should

be equal to the squares of the frequencies of their respective alleles
(fhomozygous dominant = f 2dominant allele) while the frequency of the heterozygote
should be twice the product of the frequencies of the dominant and
recessive allele.
The composition of a population’s gene pool can change over time
through evolution. This can occur by a variety of mechanisms such as
selection (non-random differential reproduction of genotypes), mutation
(change in one allele to another allele), migration (gene flow), non-random
mating, and genetic drift (changes in gene frequencies due to effects of
chance during mating and fertilization). The result is a gene pool that is
altered to be attuned to the needs of the population’s specific
environment.

Mutation. Mutation will change gene and genotypic frequencies. Forward

(recessive) mutation changes the M allele to the m allele while backward
(dominant) mutation changes m to M. Generally, has no effect or a harmful
effect, but beneficial or adaptive mutations are indispensable to evolution.
These mutations may occur only once (noncurrent mutation) or repeatedly
in a population (recurrent mutations).

Selection. In selection, the environment exerts a force or pressure on

certain individuals that prevent them from mating. Selection can either be
gametic or zygotic. In gametic selection, the environment hinders the
participation of gametes with specific alleles in the mating process.
Individuals may have a genotype of MM, Mm, and mm. Suppose that the
environment is selecting against the allele m, then, all gametes with allele
m will be prevented from fertilization process. As a result, only the
gametes of MM individuals, and the gametes of Mm individuals will be
involved in fertilization. In zygotic selection, the environment hinders the
participation of individuals with specific genotypes in the mating process.
Supposed that the environment is selecting against individuals with a

BIO105 Module 4 75 | P a g e
genotype mm, then only individuals with genotypes MM and Mm are
allowed to mate.

Migration. Gene flow is the movement of alleles from one population to

another. Gene flow occurs when individuals move between populations,
or when one population joins another (migration), assuming the second
population has different allele frequencies than the first.

Genetic Drift. A chance alternation of gene frequencies in a population is

known as genetic drift. Genetic drift most strongly affects small
populations. It occurs when populations are reduced to small numbers
(the bottleneck effect) or when a few individuals from a population migrate
to a new, isolated area and start a new population (the founder effect).

Procedure:
Download the file your family names (section) [Link] and complete the
required information as you read through the procedure.
A. Effect of Random Mating
1. Start with a bag with 800 beads (or any substitute like buttons or
white bean seeds) will be used to represent a “population” or a “gene
pool”, containing the dominant allele M and the recessive allele m of
an autosomal gene that is transmitted in simple Mendelian fashion.
A pair of beads will represent an individual of a particular genotype.
The following designations will be used: MM (white and white); Mm
(black and white); and mm (black and black). If another material is
used, you can label them M and m following the prescribed number.
2. At the start, there are 100 MM, 200Mm, and 100 mm, which comprise
the initial population (generation 0). But be sure that you have extra
beads (or seeds) in case you need to adjust the number of M and m
alleles.
3. Consider the following assumptions: (1) any two beads collected at a
time comprises a male-female pair; (2) all matings will equally
produce a progeny of 8 offspring each; (3) the progeny of each
mating will correspond to Mendelian expectations; and (4) a total of
400 individuals will be present every generation.
BIO105 Module 4 76 | P a g e
 Mating Types Expected Segregation of Progeny
MM x MM 8MM
MM x Mm 4MM : 4Mm
MM x mm 8Mm
Mm x Mm 2MM: 4 Mm : 2 mm
Mm x mm 4 Mm: 4 mm
mm x mm 8 mm

The 2nd column of the table above shows the offspring of each cross on
the 1st column and their corresponding number based on the
assumption of 8 offspring per mating.
4. Take 2 pairs of beads at random from the initial population. Record
their genotypes. This pair will correspond to the first mating type.
Return the beads to the population. (Returning the beads to the bag will
make sure that each member of the population has an equal chance to
be chosen in every mating.) Repeat the draw for 50 times. These
random draws simulate large population conditions and allow equal
chance of parenthood throughout a generation. Record the frequency
per mating type in Table 9.1. Determine the frequency of each genotype
in their progeny. Record this under Generation 1 in Table 9.1. {F
(mating) refers to number of mating multiplied by the number of
progeny per mating.} Refer to the table in step 3.
5. Compute the gene and genotype frequency for this generation. If
fM>0.60 and/or fm <0.40, repeat step 4.
6. Let the total number of each genotype in the first generation
comprise the new population. (It is possible that you will need to
make adjustments on the number of beads or seeds representing M
and m.) Randomly mate to give the second generation. Repeat this
experiment to have four generations. Calculate and record the gene
and genotypic frequencies for all generations. Perform the rest of the
activity by computing for the values asked for in table 9.2 in the
worksheets.

B. Effect of Complete Zygotic Selection

1. Follow the steps in Part I but do not impose any limit on the gene
frequencies and only consider these mating: MM x MM; MM x Mm;
and Mm x Mm. This demonstrates complete selection against
recessive individuals.

BIO105 Module 4 77 | P a g e
 2. Record the frequency of each mating types in Table 9.3. Determine
the frequency of each genotype among their offspring and record
this per generation in Table 9.4.

C. Effect of Migration on the Gene Frequencies in the Population.

1. Follow the steps in Part I but do not impose any limit on the gene
frequencies. Before doing random mating, add 50 MM individuals to
the population. For the succeeding generations, add 50 MM
individuals to the computed MM progeny prior to adjusting the
components of the population. This stimulates migration of
individuals into the population.
2. Record the frequency of each mating types in Table 9.5. Determine
the frequency of each genotype among their offspring and record
this per generation in Table 9.6.

D. Effect of Random Genetic Drift (in very small population)

1. Take 100 MM, 200Mm, and 100 mm as in Part I. Randomly take 40

pairs of beads and set them aside. This will be the founder generation
(Generation 0). Set aside the remainder of the original population.
Record the number of MM, Mm, and mm of the founder generation.
Determine the gene and genotypic frequencies.
2. Randomly take 2 bead pairs from the founder population. Follow
steps 3 to 5 of Part I but make only 5 draws (not 50) per generation.
Record the frequency per mating type in Table 9.7. Compute the
frequency for each genotype among their offspring for each
generation and record in Table 9.8.

RACE AND SPECIES FORMATION

RACE: geographically isolated breeding population that shares certain
characteristics in higher frequencies than other populations of that
species, but has not become reproductively isolated from other
populations of the same species (fig. 84).

BIO105 Module 4 78 | P a g e
 Fig. 84. Race.

SPECIES: members of populations that actually or potentially interbreed

in nature, not according to similarity of appearance

Reproductive Isolating Mechanisms (fig. 85)

1. prezygotic isolating mechanisms: prevent the formation of
viable zygotes
2. postzygotic isolating mechanisms: prevent hybrids from passing on
their genes

Fig. 85. Reproductive

isolating mechanisms.

BIO105 Module 4 79 | P a g e
Prezygotic Isolating Mechanisms

Ecological Isolation (fig. 86-87): The geographic ranges of two species

overlap, but their ecological needs or breeding requirements differ
enough to cause reproductive isolation.

Fig. 86. Two frogs separated by their habitat

will never meet.

Fig. 87. Crickets (a) Gryllus firmus and Gryllus

pennsylvanicus are separated by their
preference of habitats; (b)Viola arvensis
prefer soil with low K+ while Viola
tricolor prefer acidic or neutral soil.

Temporal Isolation: two species whose ranges overlap have different

periods of sexual activity or breeding seasons (fig. 88)

BIO105 Module 4 80 | P a g e
 Fig. 88. Temporal isolation in toads and field crickets.

The toads are not active at the same type although both of them breed
during the summer. The Gryllus crickets are separated by seasons.

Behavioral Isolation (fig. 89): signals to attract mates, elaborate

behaviors, courtship rituals differ between species. Eastern and Western
meadowlarks have different songs. You can search for it in the internet.
Have a short listen. No wonder the mates recognize each other. Other
examples include dance like what the blue-footed boobies do and patterns
of light flashing in fireflies. Amazing, isn’t it?

BIO105 Module 4 81 | P a g e
Fig. 89. Behavioral isolation in meadowlark proven by difference in their
songs, courtship dance in blue-footed boobies and use of
different light patterns in fireflies. All of these are used to attract
mates.

Mechanical Isolation (fig. 90): Morphological differences prevent mating/

pollination.

BIO105 Module 4 82 | P a g e
Fig. 90. Incompatibility in morphology can cause speciation. Examples are
different handedness in the coiling of shell, incompatible genitals
in frogs and different positioning of reproductive parts which
attract different pollinators.

Gametic Isolation (fig. 91): sperm and ova of the two species are
chemically (genetically)
incompatible, and will not
fuse to form a zygote. So
even if the eggs and
sperms are laid in the same
environment, eggs can
only be fertilized by the
sperms from the same
species of sea urchins.

Fig. 91. Different species

of sea urchins have
incompatible gametes.

BIO105 Module 4 83 | P a g e
Postzygotic Isolating Mechanisms

Hybrid inviability (fig. 92): the hybrid offspring is either weaker than the
parent species, or totally inviable (cannot survive to reproductive age).
This could be caused by minor or
major genetic defects. Even slightly
reduced viability can already cause
big decreases in reproduction.

Fig. 92. Hybrid inviability.

Another example is in the case of tobacco plants. Tobacco hybrids can

survive but they tend to get tumors at their vegetative parts preventing
flower formation and thus no reproduction.

Hybrid sterility (fig. 93-95): viable hybrid is produced but is unable to

reproduce due to meiotic problems. The good thing about this is that the
hybrids are often more vigorous than parents, thus many of our examples
here show work animals.

BIO105 Module 4 84 | P a g e
 a b
Fig. 93. A hinny (a) and a mule (b) have odd number of chromosomes.

Fig. 94. A dzo is a male offspring of a yak

and domestic cow (also known as
yattle and yakow). It is larger and
stronger than its parents but it is
sterile. However, the female
dzomo is fertile.

BIO105 Module 4 85 | P a g e
 Fig. 95. Zebroids are products of breeding a male zebra
and female Equidae. They never occur in nature.

Breeding between lions and tigers used to occur in nature but since their
territories do not overlap nowadays, any breeding of this kind only occurs
in captivity (fig. 96-99).
When a male lion and a
female tiger are bred
(fig. 96), ligers (fig. 97)
are produced.

Fig. 96. Parents: male

lion and
female tiger.

Although ligers carry the

behavioral traits of both
parents, males are
usually infertile.

Fig. 97. Ligers. The male

is the one on the
right.
BIO105 Module 4 86 | P a g e
The female ligers can, however, be successfully bred with either parent
producing li-liger and ti-liger.

If the parents are a male

tiger and a female lion
(fig. 98), ligons (fig. 99)
are produced.

Fig. 98. The parents: a

female lion and
a male tiger.

Fig. 99. Tigons. Males are usually sterile.

In plants, a hybrid banana Musa paradisiaca (AAB or ABB etc) (fig. 100) is
sterile. If is a product of the breeding between fertile Asian bananas, Musa
acuminata (AA) and Musa balbisiana
(BB).

Fig. 100. The sterile Musa

paradisiaca.
BIO105 Module 4 87 | P a g e
 Sterility in hybrids (fig. 101)
between indica and japonica
subspecies of Asian cultivated
rice (Oryza sativa L.) has also
been shown. Because they are
sterile, the ears of the
intraspecific hybrids do not
contain ripe seeds. This is one of
the observations in the various
selective breeding processes in
an attempt to produce a better
variety of offspring.

Fig. 101. Hybrid rice.

Hybrid breakdown (fig. 102-103):

successive generations of hybrids
suffer greatly lowered fertility and
even sterility. Eventually, they are
selected out of the population.
Although this is like the 2 previous
mechanisms, it skips a
generation.

Fig. 102. Hybrid breakdown. The

second generation can
be either inviable,
infertile or show
reduced fitness.

In rice, stunted offspring (fig. 103) can be produced.

BIO105 Module 4 88 | P a g e
 Fig. 103. Hybrid
breakdown in
rice.

So, if we follow these isolating mechanisms to its end, it would actually

lead to speciation. If the hybrids which may be reproductively superior to
parent populations, breed with each other (which is often the tendency), it
can result in what is called hybrid speciation. Speciation can occur as a
result of hybridization between two related species,
• if the hybrid receives a genome that enables it to breed with other
such hybrids but not breed with either parental species;
• if the hybrid can escape to a habitat where it does not have to
compete with either parent; is adapted to live under those new
conditions (founder population)

In plants, new, reproductively isolated species may arise instantaneously,

due to multiplication of the entire complement of chromosomes by a
process known as polyploidy. This may occur as a result of hybridization,
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combining the chromosome sets from two parent species in a hybrid
individual. If such hybrids turn out to be well adapted to environmental
conditions, hybridization is a mechanism that produces new species. Even
if hybrids are unable to undergo sexual reproduction because their
chromosomes do not sort out properly in meiosis, they may reproduce
vegetatively. The total chromosome number also may double by
combining the chromosome sets of a single species. You can review on
the advantages of polyploidy in Module 3 to fully understand why this is
done in breeding.

SUMMARY
This module examined some specialized fields of genetics. It started with
developmental genetics, emphasizing on the fact that although all cells in
an organism possess the same genome, the cells follow different
developmental pathways as determined by variations in gene expression.
We have seen also that in certain organisms like in the Drosophila
melanogaster and in amphibians, the production of certain proteins is due
to amplification of genes that code for them. It should also be emphasized
that the communication between nucleus and the cytoplasm plays a big
role in the success of these important events as there should be sharing
of materials between them.
While in module 2 we have seen how traits are controlled by genes which
are found in the chromosomes, it is also equally important to understand
that some genes are inherited via the genes contained in the cytoplasmic
organelles (mitochondria and plastids). This type of inheritance is
maternal in origin since the cytoplasm of the zygote comes from the
mother only. Also shown in module 2 was the inheritance of traits from
single genes or from gene interaction. Here in this module, we have shown
the inheritance of traits controlled by polygenes.
Another field of genetics presented here is at the level of population. This
portion introduced the concept of Hardy-Weinberg equilibrium and its
assumptions. It emphasizes the determination of gene and genotype
frequencies in populations and how the various conditions can affect their
values.
The last part is the topic on speciation and the factors that bring about
speciation. It explains how various related organisms gradually broke
apart from the common ancestors and became different species after
some time.
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 Reflecting on your Learning (Individual)
After engaging in all learning and assessment activities, reflect on
your learning. Which of the learning outcomes have you achieved?

Fill in the downloadable version of this table. Save as your family name
(section) – ROYL4 and e-mail to your professor. Be sure to follow proper
e-mail etiquette.
What are your key learnings/highlights of your
Questions
learning?
1.
2.
3.
4.
5.
6.
7.
😊 ~ End of the course ~ 😊

Congratulations!!!

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