LEARNING MATERIAL IN

BIO SCI 313/313L GENETICS

A COMPILATION OF LESSONS AND
EXERCISES
(Volume I)

Compiled by:

KARMELA I. DEL ROSARIO

Instructor I
 CATANDUANES STATE UNIVERSITY

College of Arts and Sciences

Natural Science Department

DISCLAIMER

This learning material is used in compliance with the flexible teaching and learning
approach espoused by CHED in response to the pandemic that has globally affected
educational institutions. Authors and publishers of the contents are well
acknowledged. As such, the College and its faculty do not claim ownership of all
sourced information. This learning material will solely be sued for instructional
purposes not for commercialization.

Catanduanes State University, College of Arts & Sciences

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TABLE OF CONTENTS

Page number
Title page 1
Disclaimer 2
Table of contents 3
Introduction and Course guide 4
Study guide and house rules 7

References

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INTRODUCTION AND COURSE GUIDE

Sci 313/313L Genetics is a 4 unit course (3 units lecture and 1 unit laboratory) that
deals with the principles of heredity and variation, its application in plant and animal
breeding together with the problems involved in it. It also includes biometrical
treatment of qualitative and quantitative characters of both plants and animals.

As for the laboratory session, this course deals with exercises on chromosomal basis
of inheritance, structure of genetic material and Mendelian and Non-Mendelian
inheritance.

At the end of this course, the students are expected to:

1. Illustrate the chromosomal behavior during mitosis and meiosis in somatic
and germ cells.
2. Understand the basic concepts underlying heredity and variation in Mendelian
and non-Mendelian inheritance.
3. Connect the structure of DNA to its functions and the mechanisms by which it
fulfills them.
4. Describe the molecular process of gene expression from DNA to protein.
5. Compare and contrast prokaryotic and eukaryotic gene expression.
6. Understand the sources of variation in individuals and population basic
principles in genetic manipulation of organisms or recombinant DNA
technology.
7. Understand quantitative inheritance and its applications.
8. Understand the mechanism of inheritance in humans, use of pedigrees,
understanding genetic control,
Course content (Lecture)
Topics Time allocation
I. The Science of Genetics 3 hours
A. Definition of Genetics
B. Genetics and Evolution
C. The scope of Genetics
D. Application of Genetics
II. Chromosomes: Basis of Heredity 7.5 hours
A. The cell
B. The chromosome structure
C. Cell division
D. Life cycles of some Model Genetic Organism
III. Mendelism: The Basic Principles of Inheritance 7.5 hours
A. Mendel’s Study of Heredity
B. Application of Mendel’s Principles
C. Linkage and Recombination
D. Sex Determination
E. Sex linkage

IV. The chemical basis of heredity 6 hours

A. Chemical composition of the chromosome
B. DNA and DNA as the genetic material
C. Chemical composition of the DNA
D. Organization of DNA in chromosomes
E. Replication or Synthesis of DNA

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 MIDTERM EXAMINATION 1.5 hours

V. Gene expression, regulation and development 6 hours

A. The genetic code and transcription.
B. Translation proteins
C. Regulation of gene action
D. Regulation of gene expression in prokaryotes and
eukaryotes
E. Genes in development
VI. Mutation 6 hours
A. Gene mutations
B. Rearrangement of Chromosome Structure
C. Polyploidy and Aneuploidy
D. Mutagenic agents and their action
E. Evolutionary significance of mutations

VII. Genetics of organisms and population 7.5 hours

A. Quantitative genetics and multifactorial traits
B. Analysis of quantitative characteristics
C. Population genetics, gene frequencies and
equilibrium
D. Changes in gene frequencies

VIII. Epigenetics and Genomics 7.5 hours

A. Epigenetic mechanisms
B. Environmental factors and epigenomes
C. Recombinant DNA technology
D. The Human Genome Project
FINAL EXAMINATION 1.5 hours
TOTAL 54 HOURS

Course Content (Laboratory)

Topics
I. Physical basis of heredity
A. Microscopic examination of dividing cells
B. Wire models for cell division
II. Linkage and recombination
III. Mutation
IV. Molecular basis of heredity
V. Human genetics
VI. Recombinant DNA technology

Course Requirements

1. Submission of all exercises in the module.

2. Performance of laboratory activities.
3. Preparation and submission of laboratory report.
4. Written examinations.
5. Research study.
6. Group/individual projects.

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 Evaluation

Students will be graded based on the following (Per Board Resolution No.3,4 or 4s.
2016

Mid-Term/Final Examination 30%

Quizzes/Homework/ Seatwork/Problem Sets 30%
Performance (Skills-based; Psychomotor) 40%
Total 100%

Distribution of grades
 Quizzes (10%): Short and long quizzes to be given on selected topics or units
 Home works/problem set (20%): Assignments/problem sets in selected
topics in the module should be submitted on or before the deadline.
 Performance/skills-based psychomotor (40%): Consists of research
works, case studies, article reviews, etc.
 Midterm exam (30%)

Course Policies

A. Students with reasonable absences from the class will be given consideration for
the missed quizzes/examinations upon presentation of duly signed excuse letter.
B. Students who incurred more than 20% of the required number of hours shall be
dropped from the rolls.
C. Submission of projects shall be on or before the due date agreed upon by the
students and the faculty. Late submission will earn a grade of 3.0.
D. Cheating and plagiarism are strictly prohibited. Students caught doing these acts
shall be dealt with in accordance with the provisions in the Student Handbook.
E. Cell phone use during classes is strictly prohibited.
F. Wearing of appropriate school uniform and ID shall be strictly implemented

Academic Honesty

Academic dishonesty will not be tolerated. As a registered student in this course and
at the Catanduanes State University, you are expected to be honest in all academic
works and must adhere to the commitment of academic honesty. Failure to comply
with this commitment may result in disciplinary action. If you are caught plagiarizing
or cheating on exams or assignments, an appropriate disciplinary action will be
imposed.

Grade Dispute Policy: Students have an allowance of 48 hours or two days after the
grades are posted to discuss concerns about their grades on assignments and exams. Please
contact your professor within the allowance given; otherwise, all grades are undisputedly
final.

Make-up Policy: Make-up work will be given for students who miss or fail to submit
requirements on the pre-determined date due to unavoidable circumstances (i.e. poor
internet connection, health problems, LGU imposed lockdown, etc.). Documentation
(doctor’s note, etc.) is required to substantiate your missed submissions.

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STUDY GUIDES AND HOUSE RULES

The key to successfully finish this course lies in your hands. This module was prepared
for you to learn diligently, intelligently, and independently. As you advance in your
course, the key concepts that you will learn in this subject is very important. Therefore,
meeting the content and performance standards of this course by accomplishing the
given activities are necessary. At the end of this module, you will also be able to learn
other invaluable learning skills which you will be very proud of as a responsible
independent learner. The following guides and rules will help you further to be on
track.
1. Secure a copy of this module.
2. Schedule and manage your time to read and understand every part of the module.
Read it over and over until you understand the concepts discussed.
3. Study on how you can manage to do the activities on this course in consideration
of your other modules from other courses. Be very conscious of your study
schedule.
4. Answer all the assignments/research work and exercises in this module. This will
be submitted on or before the midterm exam.
5. At the end of each unit, there is a Unit quiz which you are required to answer and
submit on a specified date. Late submissions will not be accepted.
6. DO NOT PROCRASTINATE. Remember, it is not others who will be short-changed
if you will not do your work on time.
7. Before you start doing your tasks, read and understand the assessment tools
provided. DO NOT SETTLE WITH LOW STANDARDS, target the highest standards
in doing your assigned tasks. I KNOW YOU CAN!
8. You are highly encouraged to browse and read different materials even prior to
doing your assigned tasks.
9. Due to problems with erratic internet connection, online courses will be
scheduled asynchronously. A group chat will also be created which will be utilized
to post announcements, provide immediate feedback, and track your progress.
10. Laboratory activities will be scheduled.
11. All activities, assignments, exercises, as well as quizzes should be submitted on or
before midterm examination or on the agreed deadline.
12. DO NOT PLAGIARIZE AND DO NOT PATCH WRITE. Patch writing is also a form of
plagiarism. It refers to an act of making small changes and substitutions to copied
source materials (Merriam-Webster, 2020).
13. Follow the schedule of course activities. Always remind yourself of deadlines.
Read in advance and anticipate possible conflicts between your personal schedule
and the course schedule, and make appropriate adjustments. Inform your course
professor for any “unavoidable delays” or other concerns.
14. Lastly, you are the LEARNER. Hence, you must do the module ON YOUR OWN.
Your family members at home and your friends may support you, but the
activities must be done by you. As a student of Catanduanes State University, you
must always demonstrate our core values of respect, integrity, social responsibility,
excellence and commitment.

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Icons used in this learning guide

Icons appear in the left margin to draw your attention to things that occur on a regular
basis. Here’s what each icon means:

This icon list down the learning objectives of each unit.

This icon gives the suggested time to be spent for each unit.

This icon highlights the concepts that are important to keep in

mind.

This icon points to self-assessment questions that you need to

answer. This also contains assignments and activities that
need to be accomplished and submitted.

This icon contains the unit quiz that needs to be answered and
submitted.

Professor’s Contact Information

Since face to face classes are not allowed this time of pandemic, you can reach me
through the following platforms if you have questions or you need clarifications for the
assigned tasks:

Email: [email protected]
Facebook messenger: @Karmela Idanan Del Rosario

Karmela I. Del Rosario

Instructor I
Natural Science Department
College of Arts and Sciences
Catanduanes State University

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 UNIT I: THE SCIENCE OF GENETICS

LEARNING OBJECTIVES
1. Describe the science of Genetics and its importance as a discipline.
2. Discuss the scope, fields and applications of genetics.
3. Discuss the role of genetics in plant and animal improvement.

SUGGESTED TIME FRAME: Three (3) hours

Introduction to the Science of Genetics

Genetics is a science that deals with heredity and variation in organisms, including the
genetic features and constitution of a single organism, species, or group, and with the
mechanisms by which they are effected. Genetics is also defined as the study of gene,
and the study of heredity and variation, which deals with how traits are transmitted
from one generation to another.
The science of Genetics has a rich and interesting history. There are no exact accounts
when people first recognized the existence of heredity but archaeological evidence
(e.g. primitive art, preserved bones and skulls, and dried seeds) documents the
successful domestication of animals and cultivation of plants thousands of years ago
by artificial selection of genetic variants within populations. Between 8000 to 1000
B.C., horses, camels, oxen, and various breeds of dogs (derived from the wolf family)
had been domesticated, and selective breeding soon followed. Around 5000 B.C.,
cultivation of many plants including maize, wheat, rice, and the date palm began.
Remains of maize dating this period have been recovered in caves in the Tehuacan
Valley of Mexico.
Philosophers also wrote about genetics as it relates to humans. This is evident in the
writings of the Hippocratic School of Medicine (500–400 B.C.), and of the philosopher
and naturalist Aristotle (384–322 B.C.). The Hippocratic treatise On the Seed argued
that active “humors” in various parts of the male body served as the bearers of
hereditary traits.
In 1600-1850, known as - The dawn of Modern Biology, major strides provided insight
into the biological basis of life, setting the scene for the revolutionary work and
principles presented by Gregor Mendel and Charles Darwin.

William Harvey (1578-1657), an English anatomist, was credited for his earlier
statement of the theory of epigenesis, that an organism is derived from substances
present in the egg that differentiate into adult structures during embryonic
development. Epigenesis holds that structures such as body organs are not initially
present in the early embryo, but instead are formed de novo (anew).

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Matthias Schleiden and Theodore Schwann in 1830, proposed the Cell Theory, stating
that all organisms are composed of basic units called cells, which are derived from
similar preexisting structures.

Another influential notion prevalent in the nineteenth century, that animal and plant
groups have remained unchanged in form since the moment of their appearance on
Earth. This doctrine was embraced by those who believed in special creation, including
the Swedish physician and plant taxonomist, Carolus Linnaeus (1707–1778), who is
better known for devising the binomial system of species classification.

Moreover, Darwin’s geological, geographical, and biological observations convinced

him that existing species arose by descent with modification from other ancestral
species. Darwin’s thinking culminated in his formulation of the theory of natural
selection, which presented an explanation of the causes of evolutionary change.

Formulated and proposed independently by Alfred Russel Wallace, natural selection

was based on the observation that populations tend to consist of more offspring than
the environment can support, leading to a struggle for survival among them. Those
organisms with heritable traits that allow them to adapt to their environment are
better able to survive and reproduce than those with less adaptive traits. Over a long
period of time, slight but advantageous variations will accumulate. If a population
bearing these inherited variations becomes reproductively isolated, a new species may
result.

Darwin however lacked an understanding of the genetic basis of variation and

inheritance, and a GAP left his theory open to reasonable criticism.

In 1850, Gregor Mendel, provided the foundation for interpreting Darwin’s proposal.
It gradually became clear that inherited variation is dependent on genetic information
residing in genes contained in chromosomes.

Since then, the science of genetics has progressed from Mendel to DNA in less than a
century (shown in the timeline below).

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Where it all began?

The true starting point of our understanding of genetics began in a monastery garden
in central Europe in the 1860s, where Gregor Mendel, an Augustinian monk, conducted
a decade-long series of experiments using pea plants.
Mendel’s work was published in 1866, but was largely unknown until it was partially
duplicated and cited in papers by Carl Correns and others around 1900. Having been
confirmed by others, Mendel’s findings became recognized as basis for explaining the
transmission of traits in pea plants and all other higher organisms. Mendel’s work
forms the foundation for Genetics, a branch of biology concerned with the study of
heredity and variation.

Since then, several advances in the science of genetics has unfold to include but not
limited to mutation, gene cloning and recombination (genetically altered plants and
animals), understanding expression of genes, recombinant DNA technology, and
biotechnology. In recent years, the human chromosomes have been mapped and the
location of some genes whose mutant forms causing hereditary diseases were known
(see figure below). This discovery has led to the advances in medicine and treatment
of human diseases.

Human chromosome showing the location of some genes whose

mutant forms cause hereditary disease

With the discovery of modern molecular methods in studying DNA and other
hereditary materials, several advances in genetics has progressed. We will discuss
more of these in the succeeding units of this module.

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 UNIT II: CHROMOSOMES: BASIS OF HEREDITY

LEARNING OBJECTIVES
1. Familiarize with the structure of the cell and its organelles as well as
chromosome structure.
2. Compare the stages of mitosis and meiosis.
3. Describe the consequences of mitosis and meiosis.
4. Illustrate the stages and life cycles of meiosis.

SUGGESTED TIME FRAME: Seven (7) hours and thirty (30) minutes

Introduction
Genetic continuity between generations of cells and between generations of sexually
reproducing organisms is maintained through the processes of mitosis and meiosis,
respectively. Diploid eukaryotic cells contain their genetic information in pairs of
homologous chromosomes, with one member of each pair being derived from the
maternal parent and one from the paternal parent. Mitosis provides a mechanism by
which chromosomes, having been duplicated, are distributed into progeny cells during
cell reproduction. Mitosis converts a diploid cell into two diploid daughter cells. The
process of meiosis distributes one member of each homologous pair of chromosomes
into each gamete or spore, thus reducing the diploid chromosome number to the
haploid chromosome number. Meiosis generates genetic variability by distributing
various combinations of maternal and paternal members of each homologous pair of
chromosomes into gametes or spores. During the stages of mitosis and meiosis, the
genetic material is condensed into discrete structures called chromosomes.

Cell Structure

Early knowledge about the structure of the cell was limited to what was seen using the
light microscope (before 1940). However, around 1940, the transmission electron
microscope was discovered, and by 1950, many details of cell ultrastructure had
emerged. Under electron microscope, cells were seen as highly varied, highly
organized structures whose form and function are dependent on specific gene
expression by each cell type. Many cell components such as the nucleolus, ribosomes,
and centriole, are involved directly or indirectly with genetic processes. Other
components such as mitochondria and chloroplasts also contain their own unique
genetic information (see figure of a generalized animal cell below).

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 Generalized structure of animal cell showing cellular components

Cellular components

All cells are surrounded by a plasma membrane, an outer covering that defines the
cell boundary and delimits the cell from its immediate external environment. This
membrane is not passive but instead actively controls the movement of materials into
and out of the cell. In addition to this membrane, plant cells have an outer covering
called the cell wall whose major component is a polysaccharide called cellulose.

Many, if not most, animal cells have a covering over the plasma membrane, referred to
as the glycocalyx or cell coat. Consisting of glycoproteins and polysaccharides, this
covering has a chemical composition that differs from comparable structures in either
plants or bacteria. The glycocalyx, among other functions, provides biochemical
identity at the surface of cells, and the components of the coat that establish cellular
identity are under genetic control. For example, various cell-identity markers that you
may have heard of—the AB, Rh, and MN antigens—are found on the surface of red
blood cells, among other cell types. On the surface of other cells, histocompatibility
antigens, which elicit an immune response during tissue and organ transplants, are
present. Various receptor molecules are also found on the surfaces of cells. These
molecules act as recognition sites that transfer specific chemical signals across the cell
membrane into the cell.

Living organisms are categorized into two major groups depending on whether or not
their cells contain a nucleus. The presence of a nucleus and other membranous
organelles is the defining characteristic of eukaryotic organisms. The nucleus in
eukaryotic cells is a membrane-bound structure that houses the genetic material, DNA,

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which is complexed with an array of acidic and basic proteins into thin fibers. During
non-divisional phases of the cell cycle, the fibers are uncoiled and dispersed into
chromatin. During mitosis and meiosis, chromatin fibers coil and condense into
chromosomes. Also present in the nucleus is the nucleolus, an amorphous component
where ribosomal RNA (rRNA) is synthesized and where the initial stages of ribosomal
assembly occur. The portions of DNA that encode rRNA are collectively referred to as
the nucleolus organizer region, or the NOR.

Prokaryotic organisms, of which there are two major groups, lack a nuclear envelope
and membranous organelles. For the purpose of our brief discussion here, we will
consider the eubacteria, the other group being the more ancient bacteria referred to
as archaea. In eubacteria, such as Escherichia coli, the genetic material is present as a
long, circular DNA molecule that is compacted into an unenclosed region called the
nucleoid. Part of the DNA may be attached to the cell membrane, but in general the
nucleoid extends through a large part of the cell. Although the DNA is compacted, it
does not undergo the extensive coiling characteristic of the stages of mitosis, during
which the chromosomes of eukaryotes become visible nor is the DNA associated as
extensively with proteins as is eukaryotic DNA.

Prokaryotic cells do not have a distinct nucleolus but do contain genes that specify
rRNA molecules. The remainder of the eukaryotic cell within the plasma membrane,
excluding the nucleus, is referred to as cytoplasm and includes a variety of
extranuclear cellular organelles. In the cytoplasm, a non-particulate, colloidal material
referred to as the cytosol surrounds and encompasses the cellular organelles. The
cytoplasm also includes an extensive system of tubules and filaments, comprising the
cytoskeleton, which provides a lattice of support structures within the cell. Consisting
primarily of microtubules, which are made of the protein tubulin, and microfilaments,
which derive from the protein actin, this structural framework maintains cell shape,
facilitates cell mobility, and anchors the various organelles.

One organelle, the membranous endoplasmic reticulum (ER), compartmentalizes

the cytoplasm, greatly increasing the surface area available for biochemical synthesis.
The ER appears smooth in places where it serves as the site for synthesizing fatty acids
and phospholipids; in other places, it appears rough because it is studded with
ribosomes.

Ribosomes serve as sites where genetic information contained in messenger RNA

(mRNA) is translated into proteins. Three other cytoplasmic structures are very
important in the eukaryotic cell’s activities: mitochondria, chloroplasts, and centrioles.

Mitochondria are found in most eukaryotes, including both animal and plant cells,
and are the sites of the oxidative phases of cell respiration. These chemical reactions
generate large amounts of the energy-rich molecule adenosine triphosphate (ATP).

Chloroplasts, which are found in plants, algae, and some protozoans, are associated
with photosynthesis, the major energy-trapping process on Earth. Both mitochondria
and chloroplasts contain DNA in a form distinct from that found in the nucleus. They

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are able to duplicate themselves and transcribe and translate their own genetic
information. It is interesting to note that the genetic machinery of mitochondria and
chloroplasts closely resembles that of prokaryotic cells. This and other observations
have led to the proposal that these organelles were once primitive free-living
organisms that established symbiotic relationships with primitive eukaryotic cells.

This theory concerning the evolutionary origin of these organelles is called the
endosymbiont hypothesis. Animal cells and some plant cells also contain a pair of
complex structures called centrioles. These cytoplasmic bodies, located in a
specialized region called the centrosome, are associated with the organization of
spindle fibers that function in mitosis and meiosis. In some organisms, the centriole is
derived from another structure, the basal body, which is associated with the formation
of cilia and flagella (hair-like and whip-like structures for propelling cells or moving
materials). Over the years, many reports have suggested that centrioles and basal
bodies contain DNA, which could be involved in the replication of these structures.

This idea is still being investigated. The organization of spindle fibers by the centrioles
occurs during the early phases of mitosis and meiosis. These fibers play an important
role in the movement of chromosomes as they separate during cell division. They are
composed of arrays of microtubules consisting of polymers of the protein tubulin.

Chromosome structure

Genetic materials are organized into structures called chromosomes that reside in the
cell nucleus. Each chromosome contains a single strand of DNA. Chromosomes consist
of DNA, macromolecule coding genetic information, and specific proteins called
histones.

Chromosomes are most easily visualized during mitosis since chromosomes condense
just before cell division. When they are examined carefully, distinctive lengths and
shapes are apparent. Each chromosome contains a constricted region called the
centromere, whose location establishes the general appearance of each chromosome.
The regions of a condensed chromosome that stain more darkly than other regions are
called heterochromatin. Heterochromatin gives stained chromosomes a banded
appearance with alternating dark (heterochromatin) and light bands. These bands are
useful as markers for stock identification.

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Diagram of chromosomes 17-21 of Chinook salmon showing the location and relative
size of stained bands called Q bands. Banding patterns may vary between individuals
and between populations (Kapuscinski & Miller, 2007)
Chromosomes also change their structure depending on the phase of mitosis.
Chromosomes reach maximum compactness at the stage of mitotic metaphase, when
they are located at equatorial plane of division forming the metaphase plate. The
counting of chromosomes and investigation of their structure are performed by
analysis of metaphase plates. Metaphase chromosomes consist of two chromatids
joined by a centromere, a special structure, to which the mitotic spindle fibers attach.
Parts of chromosomes separated by the centromere are named chromosome arms.
Depending on the location of centromere the following types of chromosomes may be
distinguished.

Types on metaphase chromosomes based on location of centromere

A. Metacentric - the chromosome arms are equal

B. Submetacentric - the chromosome arms are different but this difference is not
profound
C. Acrocentric - the chromosome arms are very different. Centromere is located
close to end.
D. Telocentric - the centromere is located very close to one of the ends of the
chromosome

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The shorter arm, by convention, is shown above the centromere and is called the p
arm (p, for petite). The longer arm is shown below the centromere and is called the q
arm (q because it is the next letter in the alphabet).

Centromere locations and chromosome designations that are based on them. Note
that the shape of the chromosome during anaphase is determined by the position of
the centromere during metaphase (Source: Klug et al., 2012)

The number of chromosomes in somatic cells (cells that are not egg or sperm) differs
widely among species but is relatively constant among individuals of the same species.
The number of chromosomes in a cell is normally an even number (2n) because both
parents contribute an equal number of chromosomes to their progeny. The number of
chromosomes contributed by each parent through either the egg or sperm is called the
haploid number and is denoted by n. Normal individuals of most species are said to
be diploid because they have 2n chromosomes in each somatic cell. Polyploidy
(duplication of entire chromosomes sets so that they are 4n, 8n, etc.).

Mitosis: Partitions chromosomes into dividing cells

The process of mitosis is critical to all eukaryotic organisms. In some single-celled
organisms, such as protozoans and some fungi and algae, mitosis (as a part of cell
division) provides the basis for asexual reproduction. Multicellular diploid organisms
begin life as single-celled fertilized eggs called zygotes. The mitotic activity of the
zygote and the subsequent daughter cells is the foundation for the development and
growth of the organism. In adult organisms, mitotic activity is the basis for wound

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healing and other forms of cell replacement in certain tissues. For example, the
epidermal cells of the skin and the intestinal lining of humans are continuously
sloughed off and replaced. Cell division also results in the continuous production of
reticulocytes that eventually shed their nuclei and replenish the supply of red blood
cells in vertebrates. In abnormal situations, somatic cells may lose control of cell
division, and form a tumor.

The genetic material is partitioned into daughter cells during nuclear division, or
karyokinesis. This process is quite complex and requires great precision. The
chromosomes must first be exactly replicated and then accurately partitioned. The end
result is the production of two daughter nuclei, each with a chromosome composition
identical to that of the parent cell.
Karyokinesis is followed by cytoplasmic division, or cytokinesis. This less complex
process requires a mechanism that partitions the volume into two parts, then encloses
each new cell in a distinct plasma membrane. As the cytoplasm is reconstituted,
organelles either replicate themselves, arise from existing membrane structures, or
are synthesized de novo (anew) in each cell.
Following cell division, the initial size of each new daughter cell is approximately one-
half the size of the parent cell. However, the nucleus of each new cell is not appreciably
smaller than the nucleus of the original cell. Quantitative measurements of DNA
confirm that there is an amount of genetic material in the daughter nuclei equivalent
to that in the parent cell.
The Cell Cycle

Many cells undergo a continuous alternation between division and non-division. The
events that occur from the completion of one division until the completion of the next
division constitute the cell cycle (see figure below).

Stages of the cell cycle

Interphase is the initial stage of the cell cycle. It is the interval between divisions. It
was once thought that the biochemical activity during interphase was devoted solely
to the cell’s growth and its normal function. However, there is another biochemical
step critical to the ensuing mitosis that occurs during interphase - the replication of
the DNA of each chromosome. This period, during which DNA is synthesized, occurs

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before the cell enters mitosis and is called the S phase. The initiation and completion
of synthesis can be detected by monitoring the incorporation of radioactive precursors
into DNA. Investigations of this nature demonstrate two periods during interphase
when no DNA synthesis occurs, one before and one after the S phase. These are
designated G1 (gap I) and G2 (gap II), respectively. During both of these intervals, as
well as during S, intensive metabolic activity, cell growth, and cell differentiation are
evident. By the end of G2, the volume of the cell has roughly doubled, DNA has been
replicated, and mitosis (M) is initiated. Following mitosis, continuously dividing cells
then repeat this cycle (G1, S, G2, M) over and over, as shown in the cell cycle figure
above.

Stages of mitosis
The following figure depicts the stages of mitosis in animal cell with a diploid number
of 4.

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Prophase

Often, over half of mitosis is spent in prophase, a stage characterized by several

significant occurrences. One of the early events in prophase of all animal cells is the
migration of two pairs of centrioles to opposite ends of the cell. These structures are
found just outside the nuclear envelope in an area of differentiated cytoplasm called
the centrosome. It is believed that each pair of centrioles consists of one mature unit
and a smaller, newly formed centriole.

The centrioles migrate to establish poles at opposite ends of the cell. After migrating,
the centrioles are responsible for organizing cytoplasmic microtubules into the spindle
fibers that run between these poles, creating an axis along which chromosomal
separation occurs. Interestingly, the cells of most plants (there are a few exceptions),
fungi, and certain algae seem to lack centrioles. Spindle fibers are nevertheless
apparent during mitosis. Therefore, centrioles are not universally responsible for the
organization of spindle fibers.

As the centrioles migrate, the nuclear envelope begins to break down and gradually
disappears. In a similar fashion, the nucleolus disintegrates within the nucleus. While
these events are taking place, the diffuse chromatin fibers have begun to condense,
until distinct threadlike structures, the chromosomes, become visible. It becomes
apparent near the end of prophase that each chromosome is actually a double
structure split longitudinally except at a single point of constriction, the centromere.
The two parts of each chromosome are called sister chromatids because the DNA
contained in each of them is genetically identical, having formed from a single
replicative event. Sister chromatids are held together by a multi-subunit protein
complex called cohesin. This molecular complex is originally formed between them
during the S phase of the cell cycle when the DNA of each chromosome is replicated.
Thus, even though we cannot see chromatids in interphase because the chromatin is
uncoiled and dispersed in the nucleus, the chromosomes are already double
structures, which becomes apparent in late prophase. In humans, with a diploid
number of 46, a cytological preparation of late prophase reveals 46 chromosomes
randomly distributed in the area formerly occupied by the nucleus.

Prometaphase and Metaphase

The distinguishing event of the two ensuing stages is the migration of every
chromosome, led by its centromeric region, to the equatorial plane. The equatorial
plane, also referred to as the metaphase plate, is the midline region of the cell, a plane
that lies perpendicular to the axis established by the spindle fibers. In some
descriptions, the term prometaphase refers to the period of chromosome movement,
and the term metaphase is applied strictly to the chromosome configuration following
migration. Migration is made possible by the binding of spindle fibers to the
chromosome’s kinetochore, an assembly of multilayered plates of proteins associated
with the centromere. This structure forms on opposite sides of each paired
centromere, in intimate association with the two sister chromatids. Once properly
attached to the spindle fibers, cohesin is degraded by an enzyme, appropriately named
separase, and the sister chromatid arms disjoin, except at the centromere region. A

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unique protein family called shugoshin (from the Japanese meaning guardian spirit)
protects cohesin from being degraded by separase at the centromeric regions.

At the completion of metaphase, each centromere is aligned at the metaphase plate

with the chromosome arms extending outward in a random array.

Anaphase

Events critical to chromosome distribution during mitosis occur during anaphase, the
shortest stage of mitosis. During this phase, sister chromatids of each chromosome,
held together only at their centromere regions, disjoin (separate) from one another—
an event described as disjunction—and are pulled to opposite ends of the cell. For
complete disjunction to occur: (1) shugoshin must be degraded, reversing its
protective role; (2) the cohesin complex holding the centromere region of each sister
chromosome is then cleaved by separase; and (3) sister chromatids of each
chromosome are pulled toward the opposite poles of the cell. As these events proceed,
each migrating chromatid is now referred to as a daughter chromosome.

Movement of daughter chromosomes to the opposite poles of the cell is dependent on

the centromere–spindle fiber attachment. Recent investigations reveal that
chromosome migration results from the activity of a series of specific molecules called
motor proteins found at several locations within the dividing cell. These proteins,
described as molecular motors, use the energy generated by the hydrolysis of ATP.
Their effect on the activity of microtubules serves ultimately to shorten the spindle
fibers, drawing the chromosomes to opposite ends of the cell. The centromeres of each
chromosome appear to lead the way during migration, with the chromosome arms
trailing behind. Several models have been proposed to account for the shortening of
spindle fibers. They share in common the selective removal of tubulin subunits at the
ends of the spindle fibers. The removal process is accomplished by the molecular
motor proteins.

The location of the centromere determines the shape of the chromosome during
separation. The steps that occur during anaphase are critical in providing each
subsequent daughter cell with an identical set of chromosomes. In human cells, there
would now be 46 chromosomes at each pole, one from each original sister pair.

Telophase

Telophase is the final stage of mitosis. At its beginning, two complete sets of
chromosomes are present, one set at each pole. The most significant event of this stage
is cytokinesis, the division or partitioning of the cytoplasm. Cytokinesis is essential if
two new cells are to be produced from one cell. The mechanism of cytokinesis differs
greatly in plant and animal cells, but the end result is the same: two new cells are
produced. In plant cells, a cell plate is synthesized and laid down across the region of
the metaphase plate. Animal cells, however, undergo a constriction of the cytoplasm,
much as a loop of string might be tightened around the middle of a balloon.

It is not surprising that the process of cytokinesis varies in different organisms. Plant
cells, which are more regularly shaped and structurally rigid, require a mechanism for
depositing new cell wall material around the plasma membrane. The cell plate laid

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down during telophase becomes a structure called the middle lamella. Subsequently,
the primary and secondary layers of the cell wall are deposited between the cell
membrane and middle lamella in each of the resulting daughter cells. In animals,
complete constriction of the cell membrane produces the cell furrow characteristic of
newly divided cells.

Other events necessary for the transition from mitosis to interphase are initiated
during late telophase. They generally constitute a reversal of events that occurred
during prophase. In each new cell, the chromosomes begin to uncoil and become
diffuse chromatin once again, while the nuclear envelope reforms around them, the
spindle fibers disappear, and the nucleolus gradually reforms and becomes visible in
the nucleus during early interphase. At the completion of telophase, the cell enters
interphase.

Cell cycle regulation and checkpoints

The cell cycle, culminating in mitosis, is fundamentally the same in all eukaryotic
organisms. This similarity in many diverse organisms suggests that the cell cycle is
governed by a genetically regulated program that has been conserved throughout
evolution. Because disruption of this regulation may underlie the uncontrolled cell
division characterizing malignancy, interest in how genes regulate the cell cycle is
particularly strong.

Vast research efforts over the past 15 years have paid high dividends, and we now have
knowledge of many genes involved in the control of the cell cycle. This work was
recognized by the awarding of the 2001 Nobel Prize in Medicine or Physiology to Lee
Hartwell, Paul Nurse, and Tim Hunt. As with other studies of genetic control over
essential biological processes, investigation has focused on the discovery of mutations
that interrupt the cell cycle and on the effects of those mutations. Many mutations are
now known that exert an effect at one or another stage of the cell cycle. First
discovered in yeast, but now evident in all organisms, including humans, such
mutations were originally designated as cell division cycle (cdc) mutations. The
normal products of many of the mutated genes are enzymes called kinases that can
add phosphates to other proteins. They serve as “master control” molecules
functioning in conjunction with proteins called cyclins. Cyclins bind to these kinases
(creating cyclin-dependent kinases), activating them at appropriate times during the
cell cycle. Activated kinases then phosphorylate other target proteins that regulate the
progress of the cell cycle. The study of cdc mutations has established that the cell cycle
contains at least three major checkpoints, where the processes culminating in normal
mitosis are monitored, or “checked,” by these master control molecules before the next
stage of the cycle commences.

Checkpoints are named according to where in the cell cycle monitoring occurs. The
first of three, the G1/S checkpoint, monitors the size the cell has achieved since its
previous mitosis and also evaluates the condition of the DNA. If the cell has not reached
an adequate size or if the DNA has been damaged, further progress through the cycle
is arrested until these conditions are “corrected.” If both conditions are “normal” at
G1/S, then the cell is allowed to proceed from G1 to the S phase of the cycle. The second
checkpoint is the G2/M checkpoint, where DNA is monitored prior to the start of

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mitosis. If DNA replication is incomplete or any DNA damage is detected and has not
been repaired, the cell cycle is arrested. The final checkpoint occurs during mitosis and
is called the M checkpoint (sometimes referred to as the Spindle Assembly checkpoint).
Here, both the successful formation of the spindle fiber system and the attachment of
spindle fibers to the kinetochores associated with the centromeres are monitored. If
spindle fibers are not properly formed or if attachment is inadequate, mitosis is
arrested.

The importance of cell-cycle control and these checkpoints can be demonstrated by

considering what happens when this regulatory system is impaired. Let’s assume, for
example, that the DNA of a cell has incurred damage leading to one or more mutations
impairing cell-cycle control. If allowed to proceed through the cell cycle as one of the
population of dividing cells, this genetically altered cell would divide uncontrollably—
precisely the definition of a cancerous cell. If instead the cell cycle is arrested at one of
the checkpoints, the cell may effectively be removed from the population of dividing
cells, preventing its potential malignancy.

Meiosis: Reducing chromosome number from diploid to haploid

The process of meiosis, unlike mitosis, reduces the amount of genetic material by one-
half. Whereas in diploids mitosis produces daughter cells with a full diploid
complement, meiosis produces gametes or spores with only one haploid set of
chromosomes. During sexual reproduction, gametes then combine through
fertilization to reconstitute the diploid complement found in parental cells. The figure
below compares the two processes by following two pairs of homologous
chromosomes.

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The events of meiosis must be highly specific since by definition, haploid gametes or
spores contain precisely one member of each homologous pair of chromosomes. If
successfully completed, meiosis ensures genetic continuity from generation to
generation.

The process of sexual reproduction also ensures genetic variety among members of a
species. As you study meiosis, you will see that this process results in gametes that
each contain unique combinations of maternally and paternally derived chromosomes
in their haploid complement. With such a tremendous genetic variation among the
gametes, a huge number of maternal-paternal chromosome combinations are possible
at fertilization. Furthermore, you will see that the meiotic event referred to as crossing
over results in genetic exchange between members of each homologous pair of
chromosomes. This process creates intact chromosomes that are mosaics of the
maternal and paternal homologs from which they arise, further enhancing the
potential genetic variation in gametes and the offspring derived from them. Sexual
reproduction therefore reshuffles the genetic material, producing offspring that often
differ greatly from either parent. Thus, meiosis is the major source of genetic
recombination within species.

In mitosis, each paternally and maternally derived member of any given homologous
pair of chromosomes behaves autonomously during division. By contrast, early in
meiosis, homologous chromosomes form pairs; that is, they synapse (or undergo)
synapsis. Each synapsed structure, initially called a bivalent, eventually gives rise to a
tetrad consisting of four chromatids. The presence of four chromatids demonstrates
that both homologs (making up the bivalent) have, in fact, duplicated. Therefore, to
achieve haploidy, two divisions are necessary.

The first division occurs in meiosis I and is described as a reductional division

(because the number of centromeres, each representing one chromosome, is reduced
by one-half). Components of each tetrad—representing the two homologs— separate,
yielding two dyads. Each dyad is composed of two sister chromatids joined at a
common centromere. The second division occurs during meiosis II and is described
as an equational division (because the number of centromeres remains equal). Here
each dyad splits into two monads of one chromosome each. Thus, the two divisions
potentially produce four haploid cells.

The first meiotic division

Like mitosis, meiosis is a continuous process. We assign names to its stages and sub-
stages only to facilitate discussion.

Prophase I: From a genetic standpoint, three events characterize the initial stage,
prophase I (see figure below). First, as in mitosis, chromatin present in interphase
thickens and coils into visible chromosomes. And, as in mitosis, each chromosome is a
double structure, held together by the molecular complex called cohesin. Second,
unlike mitosis, members of each homologous pair of chromosomes pair up,
undergoing synapsis. Third, crossing over occurs between chromatids of synapsed
homologs. Because of the complexity of these genetic events, this stage of meiosis is
divided into five sub-stages: leptonema, zygonema, pachynema, diplonema, and

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diakinesis. As we discuss these sub-stages, be aware that, even though it is not
immediately apparent in the earliest phases of meiosis, the DNA of chromosomes has
been replicated during the prior interphase.

Leptonema: During the leptotene stage, the interphase chromatin material begins to
condense, and the chromosomes, though still extended, become visible. Along each
chromosome are chromomeres, localized condensations that resemble beads on a
string. Evidence suggests that a process called homology search, which precedes and
is essential to the initial pairing of homologs, begins during leptonema.

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Zygonema: The chromosomes continue to shorten and thicken during the zygotene
stage. During the process of homology search, homologous chromosomes undergo
initial alignment with one another. This so-called rough pairing is complete by the end
of zygonema. In yeast, homologs are separated by about 300 nm, and near the end of
zygonema, structures called lateral elements are visible between paired homologs. As
meiosis proceeds, the overall length of the lateral elements along the chromosome
increases, and a more extensive ultrastructural component called the synaptonemal
complex begins to form between the homologs. This complex is believed to be the
vehicle responsible for the pairing of homologs. In some diploid organisms, this
synapsis occurs in a zipper-like fashion, beginning at the ends of chromosomes
attached to the nuclear envelope. It is upon completion of zygonema that the paired
homologs are referred to as bivalents. Although both members of each bivalent have
already replicated their DNA, it is not yet visually apparent that each member is a
double structure. The number of bivalents in each species is equal to the haploid (n)
number.

Pachynema: In the transition from the zygotene to the pachytene stage, the
chromosomes continue to coil and shorten, and further development of the
synaptonemal complex occurs between the two members of each bivalent. This leads
to synapsis, a more intimate pairing. Compared to the rough-pairing characteristic of
zygonema, homologs are now separated by only 100 nm. During pachynema, each
homolog is now evident as a double structure, providing visual evidence of the earlier
replication of the DNA of each chromosome. Thus, each bivalent contains four member
chromatids. As in mitosis, replicates are called sister chromatids, whereas chromatids
from maternal and paternal members of a homologous pair are called non-sister
chromatids. The four-membered structure, also referred to as a tetrad, contains two
pairs of sister chromatids.

Diplonema: During the ensuing diplotene stage, it is even more apparent that each
tetrad consists of two pairs of sister chromatids. Within each tetrad, each pair of sister
chromatids begins to separate. However, one or more areas remain in contact where
chromatids are intertwined. Each such area, called a chiasma (pl. chiasmata), is
thought to represent a point where non-sister chromatids have undergone genetic
exchange through the process referred to above as crossing over. Although the
physical exchange between chromosome areas occurred during the previous
pachytene stage, the result of crossing over is visible only when the duplicated
chromosomes begin to separate. Crossing over is an important source of genetic
variability, and as indicated earlier, new combinations of genetic material are formed
during this process.

Diakinesis: The final stage of prophase I is diakinesis. The chromosomes pull farther
apart, but non-sister chromatids remain loosely associated at the chiasmata. As
separation proceeds, the chiasmata move toward the ends of the tetrad. This process
of terminalization begins in late diplonema and is completed during diakinesis. During
this final substage, the nucleolus and nuclear envelope break down, and the two
centromeres of each tetrad attach to the recently formed spindle fibers. By the
completion of prophase I, the centromeres of each tetrad structure are present on the
metaphase plate of the cell.

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Metaphase I, Anaphase I and Telophase I

The remainder of the meiotic process is depicted in the figure below:

After meiotic prophase I, stages similar to those of mitosis occur. In the first division,
metaphase I, the chromosomes have maximally shortened and thickened. The
terminal chiasmata of each tetrad are visible and appear to be the major factor holding
the non-sister chromatids together. Each tetrad interacts with spindle fibers,
facilitating its movement to the metaphase plate. The alignment of each tetrad prior to
the first anaphase is random: Half of the tetrad (one of the dyads) will subsequently be
pulled to one or the other pole, and the other half moves to the opposite pole. During
the stages of meiosis I, a single centromeric region holds each pair of sister chromatids
together. It appears as a single unit, and a kinetechore forms around each one. As in
our discussion of mitosis, cohesin plays the major role in keeping sister chromatids
together. At anaphase I, cohesin is degraded between sister chromatids, except at the
centromere region, which, as in mitosis, is protected by a shugoshin complex. Then,
one-half of each tetrad (a dyad) is pulled toward each pole of the dividing cell. This
separation process is the physical basis of disjunction, the separation of homologous
chromosomes from one another. Occasionally, errors in meiosis occur and separation
is not achieved. The term nondisjunction describes such an error. At the completion of
the normal anaphase I, a series of dyads equal to the haploid number is present at each
pole. If crossing over had not occurred in the first meiotic prophase, each dyad at each
pole would consist solely of either paternal or maternal chromatids. However, the
exchanges produced by crossing over create mosaic chromatids of paternal and
maternal origin. In many organisms, telophase I reveals a nuclear membrane forming
around the dyads. In this case, the nucleus next enters into a short interphase period.
If interphase occurs, the chromosomes do not replicate because they already consist

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of two chromatids. In other organisms, the cells go directly from anaphase I to meiosis
II. In general, meiotic telophase is much shorter than the corresponding stage in
mitosis.

The second meiotic division

A second division, referred to as meiosis II, is essential if each gamete or spore is to

receive only one chromatid from each original tetrad. The stages characterizing
meiosis II are shown in the figure below.

During prophase II, each dyad is composed of one pair of sister chromatids attached
by the common centromeric region. During metaphase II, the centromeres are
positioned on the equatorial plate. When the shugoshin complex is degraded, the
centromeres separate, anaphase II is initiated, and the sister chromatids of each dyad
are pulled to opposite poles. Because the number of dyads is equal to the haploid
number, telophase II reveals one member of each pair of homologous chromosomes
present at each pole. Each chromosome is now a monad. Following cytokinesis in
telophase II, four haploid gametes may result from a single meiotic event. At the
conclusion of meiosis II, not only has the haploid state been achieved, but if crossing
over has occurred, each monad contains a combination of maternal and paternal
genetic information. As a result, the offspring produced by any gamete will receive a
mixture of genetic information originally present in his or her grandparents.

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 Formation of gametes

Development of reproductive system includes the processes of gametogenesis and

gonadogenesis. Gametogenesis is the process of transformation of primary sex cells
to gametes – eggs and spermatozoa. Gonadogenesis is the process of formation and
development of sex glands (gonads).
Meiosis is a very important component of gametogenesis. Meiosis is a type of division,
which occurs only in sex cells. Meiosis has two main functions:
a. Reduction of chromosome number from the diploid state (2n), typical for
somatic cells, to the haploid state (n), typical for gametes, and
b. Recombination of genetic material. Reduction in chromosome number during
meiosis results from two consecutive cell divisions with only one reduplication
of chromosomes. The female and male gametes differ to a great extent both
morphologically and functionally. Therefore, the processes of oogenesis and
spermatogenesis have essential differences, although the general scheme of
meiosis is universal.

During the chromatin nucleolus stage of oogenesis, complex transformations in the

structure of chromosomes, caused by conjugation and crossing-over in prophase I take
place. Prophase I is divided to several sub-phases. During the first sub-phase of
prophase I, leptonema, thin chromosome threads are evenly distributed all over the
nucleus. During this period, preparation for further conjugation of homologous
chromosomes occurs. Conjugation of homologous chromosomes (or synapsis) takes
place during the next stage – zygonema. For zygonema the specific arrangement of
chromosomes is typical, on one side of the nucleus a dense agglomeration of
chromosomes is seen, while the other side of the nucleus is filled with single
chromosome threads. This arrangement of chromatin distribution, sometimes called a
"bouquet", is observed since conjugated chromosomes attach with their ends to a
certain region of the nuclear membrane. At the end of zygonema chromosomes are
condensed forming one clew. At the beginning of the pachynema, unwrapping of the
chromosome clew begins. At the end of this stage thick chromosome threads are
evenly distributed throughout the nucleus. At pachynema, homologous chromosomes
tightly adjoin to each other; during this period the crossing-over occurs. At the
beginning of diplonema homologous chromosomes begin to separate from each
other and the space between them can be observed. By early diplonema the chromatin
nucleolus stage of development of the oocytes finishes, meiotic processes block and
female sex cells begin to grow.

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Oogenesis
The development of female sex cells begins with mitotic divisions of oogonia. As a
result, their number significantly increases. In interphase before meiosis, the
replication of DNA occurs. Each chromosome reduplicates with formation of two sister
chromatids. Female sex cells coming into meiosis are named oocytes. Until completion
of the first meiotic division they are referred as primary oocytes. The process of oocyte
development in fish is divided into four basic periods:
A. Duplication phase - The ovary and oogonia develop from primordial germ cells,
which are endodermal in origin. The reserve oogonia undergo repeated mitotic
divisions (remaining diploid), and are no longer oogonia after mitosis stops—
this is the starting point for oocytes.
B. Primary growth phase - The secondary oocyte undergoes a second meiotic
division resulting in a mature ovum and another polar body. The first polar
body may divide into two polar bodies (i.e., results in three polar bodies and
one ovum), and the polar bodies are eventually resorbed.

Development of oocytes during chromatin-nucleolus and growth periods

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 Nuclear transformations in oocytes during maturation period
Follicle development, yolk vesicle formation, vitellogenesis, and envelope formation
are occurring during the maturation phase.
C. Follicle development - This refers to the structure formed surrounding the
developing oocytes, which is formed by two layers of cells that are the outside
theca cells and the inside follicle cells (also called the glandular granulosa).
D. Yolk vesicle formation - The formation of yolk vesicles—a misnomer because
they are not true yolk, but instead, they contain polysaccharides; they are also
known as cortical alveoli. Generally, cortical alveoli are found around the
periphery of the oocyte.
E. Vitellogenesis - This is stimulated by pituitary gonadotropin and is a true yolk
formation where the yolk forms and pushes the cortical alveoli to the margins.
The microvilli extend from follicle cell (or oocyte) cytoplasm through pore
canals providing passageways to transport yolk material and nutrients across
membranes to oocytes. Proteins produced in the liver are carried by blood
vessels to the follicles, which transfer them to the oocyte cytoplasm where they
are assembled into yolk.

Spermatogenesis
The development of male sex cells begins with mitotic divisions of spermatogonia. As
a result of their proliferation, cysts are formed – groups of cells originated from one
spermatogonium and surrounded with a common capsule. Further development of
male sex cells occurs in cysts located in the walls of seminiferous tubules. The cells in
each cyst develop synchronously.
The process of spermatogenesis may be divided to three periods:

 Growth
 Maturation
 Formation

The male sex cells coming into meiosis are called primary spermatocytes. During the
growth period, transformations of chromosomes in primary spermatocytes are similar
with those described above for oocytes at the chromatin-nucleolus stage. During this
period some increase in size of sex cells is observed.

During the maturation period two consecutive meiotic divisions occur. In the first
meiotic division the homologous chromosomes detach; therefore, two daughter
secondary spermatocytes are produced with haploid numbers of chromosomes,
each of which consists of two chromatids. The result of second meiotic division, in
which sister chromatids detach, is that two spermatids are formed.

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During the period of formation, the process of spermiogenesis occurs, i.e.
transformation of spermatids to spermatozoa capable of active movement. After the
completion of spermiogenesis the cyst capsules break out and spermatozoa are
released to the lumens of seminiferous tubules.

Scheme of spermatogenesis
During spermatogenesis from one primary spermatocyte four spermatozoa are
formed, and a significant decrease in the size of male sex cells is observed.
Fertilization

Fertilization is the process whereby male and female gametes (spermatozoon and
egg, respectively) join to form a zygote, which is capable of developing into a new
organism. Fertilization is the first stage of embryonic development, which begins with
insemination - the contact of a spermatozoon (passed through micropylar canal) with
the egg cytoplasm, and ending with karyogamy - the fusion of haploid nuclei of gametes
resulting in the formation of a zygote with a diploid nucleus. Soon after penetration of
the spermatozoon into the egg's cytoplasm, its head swells and transforms into the
male pronucleus. Simultaneously the second meiotic division in the egg is completed -
the second polar body is extruded and the remaining haploid chromosome set
transforms into the female pronucleus. The male and female pronuclei migrate into
the depth of the cytoplasm and meet at the central part of the animal pole. During
migration and closing of the pronuclei, the reduplication of chromosomes occurs with
formation of two daughter chromatids. Later the membranes surrounding the
pronuclei disappear and the male and female chromosomes fuse forming the
metaphase plate of the first mitotic cleavage division. After its completion, two
embryonic cells (blastomeres) are formed.

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Page | 33
 Laboratory Exercise 1
THE PHYSICAL BASIS OF HEREDITY

LEARNING OBJECTIVES
1. Illustrate the chromosomal behavior during mitosis and meiosis in somatic
and germ cells.
2. Identify specific events in mitosis and meiosis that allow the inheritance of
traits and generation of genetic variation.

SUGGESTED TIME FRAME: Twelve (12) hours

Microscopic Examination of Dividing Cells

A. Squash preparation for mitosis in onion (Allium cepa L., 2n = 160)
Materials:

Compound microscope Fixed onion root tips Razor blades

Glass slides Acetocarmine Drawing pencil
Cover slips 45% acetic acid Tissue paper
Straight and bent needles Alcohol lamp
Forceps Filter paper strips

Procedure:
1. Get one onion root fixed with 70% ethyl alcohol from a vial using a pair of
forceps.
2. Place the fixed root on a slide. Note the whitish tip of the root. This is the root cap.
Cut the terminal 1 mm of the root using a piece of razor to remove the root cap.
Discard the root cap. Actively dividing cells will be found in the meristematic
region of the root, which follows the root cap.
3. Cut a very thin section of the meristematic region. Discard the rest of the root.
4. Add one drop of acetocarmine on the thin root section. Let the preparation stand
for 1 minute.
5. Cover the stained root section with a coverslip. Heat the slide gently by passing it
over the flame of an alcohol lamp. This will facilitate staining of the chromosomes
and will clear the cytoplasm. Be careful that the specimen does not dry out.
6. Using a straight needle, drop the tip of the needle perpendicular to the specimen;
repeat this until there is an even thin spread of cells.
7. Observe the specimen under the low power objective (LPO) to assess if the
chromosomes have been properly stained.
a. IF THE CHROMOSOMES ARE DEEPLY STAINED – Destain them using 45%
acetic acid. Place a drop of acetic acid on one side of the coverslip. Place a
piece of filter paper against the opposite side of the coverslip to draw the
acetic acid across the specimen. Destaining can be hastened by passing
the slide 3-4 times over a flame. Take care not to boil the sample. Reassess
the staining of the chromosomes.

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 b. IF THE CHROMOSOMES ARE POORLY STAINED – restain them using
acetocarmine. Place a drop of acetocarmine on one side of the coverslip.
Place a piece of filter paper against the opposite side of the coverslip to
draw the stain across the specimen. Heat the slide by passing it 3-4 times
over a flame to facilitate staining. Reassess the staining of the
chromosomes.
8. Once the chromosomes have been properly stained, seal the specimen with
paraffin. Heat a bent needle over a flame, place it on the paraffin and apply the
melted paraffin to the edges of the coverslip.
9. Using the LPO, look for cells undergoing mitosis. Focus an area of dividing cells at
the center of the field of view. Switch to the high power objective (HPO) to
identify the stage of mitosis exhibited by the dividing cell. Observe the
arrangement and morphology of the chromosomes at each stage of mitosis. Draw
one cell (to scale) per stage of mitosis in the WORKSHEET. Each circular drawing
blank represents the field of vision using HPO. Take note of the theoretical
magnification you used in observing the cells in your worksheet.

B. Prepared slides of animal mitosis, and plant and animal meiosis

Materials:
Prepared microscopic slides

Procedure:
1. Your instructor will mount prepared slides of animal cells undergoing mitosis,
and plant and animal cells undergoing meiosis. Cells featuring different stages of
cell division will be focused under HPO, and will be indicated by the ocular’s
pointer. Consult your instructor to verify which cell is to be observed.
2. Draw the focused cells in your worksheet and identify the stage of cell division
exhibited by the cells. Note the theoretical magnification used in your worksheet.

C. Wire models of cell division

Materials:
Twelve (12) pieces of wire:
2 long green 2 short green
2 long red 2 short red
1 long green with a red segment at the tip
1 long red with a green segment at the tip
1 short green with a red segment at the tip
1 short red with a green segment at the tip
Masking tape
Marking pen

Procedure:
1. Get 2 long wires (1 red and 1 green) and 2 short wires (1 red and 1 green). This
will represent the original chromatin fibers in a cell. Wires of the same length are
homologous to each other. Red wires represent chromatin from the female parent
of the cell, and the green wires represent chromatin from the male parent.
2. Using a masking tape, mark the centromeres of each chromatin fiber. Place the
tape exactly at the middle of the short wires, and at a point ¾ the length from the
end of the long wires.

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3. Using a tape, label the chromatin at their tips as follows:
Long green – 1p long red – 1m
Short green – 2p short red – 2m
4. Simulate what happens as the cell goes through the S phase. Replicate each
chromatin fiber by getting an identical set of wires. Connect sister chromatids to
each other by placing tape around their centromeres.
5. Convert the chromatin fibers into chromosomes by coiling the wires.
6. Follow the instruction in your worksheet and answer the questions accordingly.

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 WORKSHEET FOR LABORATORY EXERCISE 1
THE PHYSICAL BASIS OF HEREDITY

Name: ___________________________________________ Course/Blk: _______________________

Date Submitted: _______________________________ Lab Instructor: ___________________

MICROSCOPIC EXAMINATION
A. Mitosis in Allium cepa L.
For each of the stages of mitosis identified below, draw one root tip cell (as
observed under HPO). Indicate the theoretical magnification used.

Prophase ( ______ x mag) Metaphase ( ______ x mag)

Anaphase ( ______ x mag) Telophase ( ______ x mag)

B. Prepared slides of mitosis in animal cells, and meiosis in plant and animal cells
Draw one animal cell undergoing mitosis and another undergoing meiosis
in the respective blanks below (as observed under HPO). Beside each drawing,
write the specimen from which the cells came from. Identify the stage of cell
division in each specimen, and indicate the theoretical magnification used.

Animal mitosis ( ______ x mag) Animal meiosis ( ______ x mag)

Stage: _______________________ Stage: _______________________

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 Draw the focused plant cells undergoing meiosis in the blanks provided
below (as seen under HPO). Identify the specific stage of meiosis in each specimen,
and indicate the theoretical magnifications used.

Specimen: _____________ Specimen: _____________

Stage: __________________ Stage: __________________
( ______ x mag) ( ______ x mag)

Specimen: _____________ Specimen: _____________

Stage: __________________ Stage: __________________
( ______ x mag) ( ______ x mag)

C. Wire models for cell division

1. Mitosis
After completing steps A to E (in the produce above), simulate
mitosis using the provided wires. Follow the instructions given below and answer
the questions.
Draw and label the chromosomes at
metaphase. Identify the types of
chromosomes in the genome. Give the
chromosome number and chromosome
composition of the cell.

Chromosome number: ____________________

Chromosome composition:
____________ ______________
____________ ______________
Chromosome type
Chromosome 1 ________________
Chromosome 2 ________________

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 Draw and label the chromosomes at
anaphase. Label the poles of the cell as
well.

Chromosome number: ____________________

Chromosome composition per pole:
Pole 1 ____________ ______________
____________ ______________
Pole 2 ____________ ______________
____________ ______________

Chromosome type per pole

Pole 1 ____________ ______________
____________ ______________
Pole 2 ____________ ______________
____________ ______________

Draw and label the chromosomes at

telophase. Label the poles of the cell as
well.

Chromosome number: ____________________

Chromosome composition per pole:
Pole 1 ____________ ______________
____________ ______________
Pole 2 ____________ ______________
____________ ______________

Chromosome type per pole

Pole 1 ____________ ______________
____________ ______________
Pole 2 ____________ ______________
____________ ______________

In terms of chromosome composition, are the two daughter cells identical? _______
Are the two daughter cells identical to the parent cell? ________________________
If so, cite three (3) ways by which daughter cells and their parent cell are identical.
1. _________________________________________________________________________
2. _________________________________________________________________________
3. _________________________________________________________________________
What events in the interphase and in the division stage of the cell cycle are
responsible for this? Explain.

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Using the same set of wires, pair homologous chromosomes. What stage is this?
_______________________
Assume crossing over between non-sister chromatids. Use green wires with a red
segment at the tip and red wires with a green segment at the tip to indicate crossed
over regions. At what stage does this occur? Draw and label the chromosomes
showing interchanged segments.

Chromosome number _____________________

Chromosome composition

________________________________________________
________________________________________________
________________________________________________
________________________________________________
________________________________________________
________________________________________________

Stage: _____________________________

What is the significance of crossing over?

______________________________________________________________________________________________
______________________________________________________________________________________________
______________________________________________________________________________________________
______________________________________________________________________________________________

Draw and label the chromosomes at

metaphase I.

Chromosome number _____________________

Chromosome composition

__________________________________________________
__________________________________________________
__________________________________________________
__________________________________________________

Metaphase I

How is this different from metaphase?

______________________________________________________________________________________________
______________________________________________________________________________________________
______________________________________________________________________________________________
______________________________________________________________________________________________

Page | 40
 Draw and label the chromosomes at
anaphase I. Label the poles of the cell.

Chromosome number per pole

Pole 1 _______________________________________
Pole 2 _______________________________________
Chromosome composition per pole
Pole 1 _______________________________________
_______________________________________
Pole 2 _______________________________________
________________________________________
Anaphase I

How is anaphase I different from anaphase?

______________________________________________________________________________________________
______________________________________________________________________________________________
______________________________________________________________________________________________
What is the significance of anaphase I?

Assume that the cells proceeded to meiosis

II. Draw and label the chromosomes of the
two cells undergoing anaphase II. Label the
cells at their poles as well.

Chromosome number per pole

Cell 1 Pole 1a __________________________
Pole 1b __________________________
Cell 2 Pole 2a __________________________
Pole 2b __________________________

Chromosome composition per pole

Pole 1a _______________ _______________
Pole 1b _______________ _______________
Pole 2a _______________ _______________
Anaphase II
Pole 2b _______________ _______________

Page | 41
 Draw and label the chromosomes of the
four daughter cells formed after
telophase II. Label the cells as well.

Chromosome number per cell

Cell 1a __________________________
Cell 1b __________________________
Cell 2a __________________________
Cell 2b __________________________

Chromosome composition per pole

Cell 1a _______________ _______________
Cell 1b _______________ _______________
Telophase II Cell 2a _______________ _______________
Cell 2b _______________ _______________

Are the four daughter cells formed during meiosis identical? _____________________

Why is this so? Explain your answer.

Page | 42
STUDY QUESTIONS FOR UNIT I

1. The table below presents the criteria to be used in comparing mitosis and
meiosis. Provide the missing information.

CRITERIA MITOSIS MEOISIS

a. Chromosome number
of daughter cells
b. Number of cell
divisions
c. Stages

d. Presence of synapsis

e. Presence of crossing
over
f. Cell type that
undergoes division
g. Number of daughter
cells formed
h. DNA content of cells
at start of division
i. DNA content of
daughter cells
j. Genetic consequences

2. What is nucleosome? Discuss its significance?

3. Give the genetic content (C) and chromosome number (n) of a diploid cell
during the following phases:
a. G1
b. S-phase
c. G2
d. Metaphase
e. Anaphase
f. Telophase after cytokinesis

4. Where do you expect genetic differences between cells to arise, from mitosis
or from meiosis? Why?

Page | 43
 5. By what mode of cell division would you expect sperm cells to be formed in
the haploid male bee?

6. Why is each stage of the cell cycle a pre-requisite to the next?

7. Suppose mitotic and meiotic processes had never evolved, what do you think
would have been the consequence(s)?

8. What would happen during anaphase and anaphase I in individuals

possessing an odd number of chromosomes?

9. What may be expected to happen chromosomally and genetically to:

a. An unfertilized egg that undergoes mitosis, but fails to undergo
cytokinesis
b. A cell which formed a tripolar spindle
c. A chromosome that lost its centromere
d. A chromosome that contains two centromeres

10. Identify, define and describe each of the following terms:

Centromere Chromosome Synapsis

Tetrad Chromatid Spindle fiber

Genome Centriole Crossing over

Chromatin Homologue Autosome

Cytokinesis Kinetochore Interkinesis

11. In Coleus, the somatic cells are diploid with 24 chromosomes. How many of
each of the following is present in each cell at the stage of mitosis and meiosis
indicated below?
a. Kinetochore at prophase
b. Chromosomes at anaphase
c. Chromatids at metaphase I
d. Chromosomes at telophase after cytokinesis
e. Centromeres at anaphase
f. Chromosomes at telophase II after cytokinesis
g. Centromeres at anaphase I
h. Chromatids at metaphase

12. In a zygote that begins with a complement of two homologous chromosome

pairs, A and a and B and b:
a. What chromosome complements would you find in its somatic cells
during growth?
b. What combination of chromosomes would you expect to find in the
gametes if the individual becomes an adult?

Page | 44
 13. A diploid male organism has two homologous chromosomes. A and B are
from its maternal parent, while A’ and B’ are from its paternal parent. Draw
the chromosomes at the following stages:
a. Anaphase of mitosis
b. Anaphase of the first meiotic division
c. Anaphase of the second meiotic division

If these chromosomes were involved in meiosis in a female, would the kind of

egg nuclei produced be different from the sperm nuclei? Why?

REFERENCES:
Klug, W.S., M.R. Cumming, C.A. Spencer and M.A. Palladino. 2012. Concepts of
Genetics 10th ed. Pearson Education, Inc.
Mendioro, M.S., R.P. Laude, M.G.Q. Diaz, J.C. Mendoza and D.A. Ramirez. 2013.
Genetics Laboratory Manual. 13th Revision. Genetics and Molecular Biology Division.
Institute of Biological Science. College of Arts and Sciences, UP Los Banos
Tiu, M.C.T. 2014. Cytogenetic screening of chemicals from water leachate of plastic
slippers using Allium test. CSU Research Digest. Vol. 2 No. 2

Page | 45
 UNIT III: MENDELISM: THE BASIC PRINCIPLES OF INHERITANCE

LEARNING OBJECTIVES
1. Discuss the principles of heredity by Mendel.
2. Define sex linkage and sex determination.
3. Illustrate sex-linked inheritance using concept maps.

SUGGESTED TIME FRAME: Seven (7) hours and thirty (30) minutes

Mendelian Genetics
Gregor Johann Mendel, the father of Genetics, was responsible for the laws governing
inheritance of traits by experimenting on a pea plant.

Mendel have used pea plant in his experiments due to the following reasons:
1. Available in many varieties with distinct heritable features (characters)
and different variants (traits)
2. It has strict control over which plant mated with which
3. Each pea plant has male (stamens) and female (carpal) sexual organs

Page | 46
 4. In nature, pea plants typically self-fertilize, fertilizing ova with their own
sperm
5. Move pollen from one plant to another to cross pollinate

Because of his experiments, Mendel concluded that physical traits are inherited as
“particles.” Little did Mendel know that these “particles” were actually chromosomes
and DNA. Mendel’s quantitative analysis of F 2 plants revealed the two fundamental
principles of heredity:
a. Law of segregation

b. Law of independent assortment.

Independent assortment and segregation

The principles of independent assortment and segregation (Mendel’s principles)
govern the inheritance of all genes but these principles are particularly evident in the
inheritance of qualitative traits. Consider two loci each with two alleles. The first locus
controls development of dorsal fin rays as in the previous example. The second locus
controls pigmentation with allele P associated with normal pigmentation and allele p
with albinism.
Each haploid gamete has one complete set of chromosomes and therefore, one
complete set of alleles because homologous chromosomes and alleles segregate during
gametogenesis. The principle of segregation asserts that an individual with genotype
Dd produces equal numbers of two types of gametes, one containing D and the other
containing d. Using a simple tool called a Punnett square, we can then predict the
genotypes and phenotypes of offspring when gametes unite during fertilization.

The above diagram illustrates simple inheritance of body color in medaka fish. In
medaka, normal color (B) is dominant over red (b). Color is controlled by genes that
assort independently. A homozygous normal (BB) is crossed with a homozygous red
(bb) medaka. All the F1 medaka are heterozygous normal (Bb). Further crossing the
F1 generation will produce both homozygous and heterozygous normal as well as
homozygous red medaka.

To illustrate the above test cross between organisms with different characteristics,
consider the following:

Page | 47
Parental gene: BB – homozygous normal

bb - homozygous red
To predict the types of offspring that result from this cross, we first determined which
gametes will be produced by each parent. The principle of segregation tells us that the
two alleles in each parent separate, and one allele passes to each gamete. All gametes
from the homozygous BB normal and homozygous bb red color will receive a single
normal (B) allele and 1 red (b) allele. The normal color in this cross is heterozygous
(Bb); so 50% of its gametes will receive a normal allele (B) and the other 50% will
receive a red allele (b).
Crossing the parental gene BB x bb

F1 generation

Gametes (♀/♂) B B
b Bb Bb
B bB bB

Crossing the gametes of the F1 generation to produce F2:

Parental genotype – Bb (heterozygous dominant)

Gametes (♀/♂) B b
B BB Bb
b bB bb

Genotypic ratio: 1:2:1 (1BB, 2Bb, 1bb)

Phenotypic ratio: 3:1 (3 normal color, 1 red)

To summarize the genotype and phenotypes of this cross, you will have the following:

Genotype Phenotype Frequency

Parents BB Normal color 50%
Bb Red 50%
F1 generation Bb, bB Normal color 100%
F2 generation BB Normal color 25%
Bb Normal color 50%
Bb Red 25%

The above example is an illustration of a cross using a Punnett square, which is

constructed by drawing a grid, putting the gametes produced by one parent along the
upper edge and the gametes produced by the other parent down the left side. Each cell
(a block within the Punnett square) contains an allele from each of the corresponding
gametes, generating the genotype of the progeny produced by fusion of those gametes.
It is also useful to write the phenotype expressed by each genotype.
The principle of independent assortment asserts that alleles of different loci assort
independently when gametes are produced. Consider an individual with genotype
DdPp, where the first gene affects fin rays and the second affects pigment. If alleles at

Page | 48
the two loci assort independently, then equal number of gametes with haplotypes DP,
Dp, dP, and dp will be produced see table below.

Genotype of parent Gamete haplotypes Genetic principle

Gene 1 Dd (fin rays) 50% D, 50% d Segregation
Gene 2: Pp (pigment) 50% P, 50% p Segregation
Both genes: DdPp 25% DP, 25% Dp, Independent assortment
25% dP, 25% dp
Both genes: DP/dp 50% DP, 50% dp Complete linkage

If two individuals with genotype DdPp mate, a 4 x 4 Punnett square can be used to
predict the simultaneous inheritance of both traits in offspring (see Punnett square
below). Independent assortment of genes on different chromosomes should come as
no surprise. It is surprising, however, that the principle of independent assortment
holds generally for genes far from each other on the same chromosome, because of
crossing over during meiosis.
Punnett square depicting the expected genotype and phenotype frequencies in
offspring of two heterozygous parents at two loci (DdPp)

Gametes (♀/♂) DP Dp dP dp
DP DDPP DDPp DdPP DdPp
Normal fins Normal fins Normal fins Normal fins
Pigment Pigment Pigment Pigment
Dp DDPp DDpp DdPp Ddpp
Normal fins Normal fins Normal fins Normal fins
Pigment Albino Pigment Albino
dP DdPP DdPp ddPP ddPp
Normal fins Normal fins No fin rays No fin rays
Pigment Pigment Pigment Pigment
dp DdPp Ddpp ddPp ddpp
Normal fins Normal fins No fin rays No fin rays
Pigment Albino Pigment Albino

Genotypic ratio:
Genotype Frequency
DDPP 1
DDPp 2
DdPP 2
DdPp 4
DDpp 1
Ddpp 2
ddPP 1
ddPp 2
ddpp 1
Total 16

Phenotypic ratio
Normal fins and pigment - 9

Page | 49
Normal fins and albino - 3

No fin rays and pigment - 3

No fin rays and albino - 1

Note that genes on the same chromosome that do not assort in a completely
independent manner are linked and the strength of the linkage is measured by the
degree to which independent assortment is observed. Consider the two linked genes
carried by an individual with genotype DdPp (DP on one homologous chromosome
and dp on the other homologous chromosome). Independent assortment (no linkage)
would result in gametes with equal numbers of each haplotype listed above. Gametes
with only two haplotypes (DP and dp) would be produced in the complete absence of
independent assortment (complete linkage). With incomplete linkage all four
haplotypes would be produced but with an excess of DP and dp and a deficiency of Dp
and dP.

Independent assortment of genes on the same chromosome depends on the exchange

of alleles between homologous chromosomes (recombination) during the first
meiotic division of gametogenesis. The probability of crossover and the degree of
linkage between two genes depend on the distance between them on the chromosome.
With greater distance between genes, the probability of crossover is increased and the
degree of linkage is decreased.
Inheritance of Color traits in fishes

The color of skin in fish is determined by the combination of color pigments. There are
several types of specialized pigment-containing cells (chromatophores) in fish skin.
Each type of chromatophores contains a certain kind of pigment.
 Melanophores contain the black pigment melanin.
 Erythrophores accumulate red pigments
 Xanthophores accumulate yellow pigments.
 Iridophores contain crystals of colorless pigment guanine, which refracts and
reflects light giving fish their typical metallic appearance.
In fish, as in other animals, the hereditary variability in body color results from
mutations of genes controlling the synthesis of pigments or the structure and
distribution of pigment cells. The absence, decreased or increased amount of some
pigment in the skin result in changes in body color, i.e. appearance of color morphs.

Numerous color variants have been described in ornamental fish cultivated in aquaria.
For ornamental species such as guppy, goldfish, medaka, and angelfish, the genetic
basis for color variability has been revealed and many color-modifying genes have
been described. For aquaculture species and fish inhabiting natural waters the
information on color variability is much more scarce. Color modifications have been
revealed only in a few species. The appearance of albino individuals in many fish
species may be regarded as an exception.

A. Albinism and its inheritance - The most frequent color modification observed
in fish is albinism. Albinism is the absence of black pigment, melanin, both
in the skin and in the eyes. The albino animals have a yellowish body and pink
eyes. The eyes look pink or red since the blood vessels and capillaries in the
iris and retina become visible due to the absence of melanin. Albino mutants

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 have been found among fish of very different systematic groups: lampreys,
sharks, sturgeons and many teleost fish. Albino individuals have been
described in many aquarium fish, several aquaculture species including
rainbow trout, channel catfish, grass carp, and among fish inhabiting natural
waters. The inheritance of albinism has been analyzed in many aquarium fish
and several aquaculture species - rainbow trout, channel catfish and grass
carp. In all cases the albinism was controlled by autosomal recessive mutation.
The crossings of parental wild-type color fish (AA) with albino fish (aa) results
in appearance of wild-type color fish in F1.

Consider the cross of parental wild type color fish (AA) and an albino fish (aa)
will result in the appearance of wild type color fish in F1:

P: ♀ AA (wild-type) x ♂ aa (albino)
F1: Aa (all wild-type)

The crosses between F1 fish give the classical Mendelian ratio phenotypic ratio
of 3:1 (wild type: albino)
F1 x F1: ♀ Aa (wild-type) x ♂ Aa (wild-type)
F2: 1 AA (wild-type): 2 Aa (wild-type): 1 aa (albino)

In test-crosses of F1 fish with albino fish the classical ratio of 1:1 was observed: Aa
(wild-type) x aa (albino) --- 1 Aa (wild type): 1 aa (albino).
A useful tool for analyzing genetic crosses is the testcross, in which one individual of
unknown genotype is crossed with another individual with a homozygous recessive
genotype for the trait in question. Testcrosses reveal the genotype/s of the first
individual.

Crosses that deviate from Mendel’s Laws

One of Mendel’s important contributions to the study of heredity is the concept of
dominance—the idea that an individual possesses two different alleles for a
characteristic, but the trait enclosed by only one of the alleles is observed in the
phenotype. However, Mendel himself was aware that dominance is not universal;
and not all characters have traits that exhibit dominance. Mendel conducted some
crosses concerning the length of time that pea plants take to flower. When he crossed
2 homozygous varieties that differed in their flowering time by an average of 20 days,
the length of time taken by the F1 plants to flower was intermediate between those of
the two parents.

Dominance revisited

Type of Dominance Definition

Phenotype of the heterozygote is the same as the
DOMINANCE
phenotype of one of the homozygotes

Page | 51
 INCOMPLETE Phenotype of the heterozygote is intermediate (falls
DOMINANCE within the range) between the phenotypes of the two
homozygotes
CO-DOMINANCE Phenotype of the heterozygote includes the
phenotypes of both homozygotes

In complete dominance, the phenotype of the offspring is the same as the phenotype
of any of the parents (see example below), while for incomplete dominance, the
phenotypes of the offspring fall within the range between the phenotypes of the two
parents.

When the heterozygote has a phenotype intermediate between the phenotypes of the
two homozygotes, the trait is said to display intermediate dominance.
The seven characters in pea plants that Mendel studied extensively all exhibited
dominance. However, not all characters have traits that exhibit dominance. Mendel
conducted some crosses concerning the length of time that pea plants take to flower.
When he crossed 2 homozygous varieties that differed in their flowering time by an
average of 20 days, the length of time taken by the F1 plants to flower was intermediate
between those of the two parents.

Incomplete dominance is exhibited when the heterozygote has a phenotype

intermediate between the phenotypes of the two homozygotes. When a trait exhibits
incomplete dominance, a cross between two heterozygotes produces a 1:2:1
phenotypic ratio in the progeny.

Page | 52
The fruit color in eggplant is inherited as an incompletely dominant trait.

With incomplete dominance, a cross between organism with two different phenotypes
produces offspring with a third phenotype that is a blending of the parental traits

Page | 53
When each allele of a gene is associated with specific substance, co-dominance is
present if both substance appear together in the heterozygote. It occurs when both of
the contribution of both alleles are visible and do not over-power each other in the
phenotype (see example below).

Co-dominance reveals that both allele pairs are fully expressed in a heterozygote form.

Page | 54
References

Klug, W.S., M.R. Cumming, C.A. Spencer and M.A. Palladino. 2012. Concepts of Genetics
10th ed. Pearson Education, Inc.

Mendioro, M.S., R.P. Laude, M.G.Q. Diaz, J.C. Mendoza and D.A. Ramirez. 2013. Genetics
Laboratory Manual. 13th Revision. Genetics and Molecular Biology Division. Institute
of Biological Science. College of Arts and Sciences, UP Los Banos

Pierce, B.A. 2012. Genetics: A conceptual approach, 4th ed. W.H. Freeman and Company
Ramirez, D.A., M.S. Mendioro and R.P. Laude. 2013. Lectures in Genetics. 10 th ed.
University of the Philippines Los Banos
Tiu, M.C.T. 2014. Cytogenetic screening of chemicals from water leachate of plastic
slippers using Allium test. CSU Research Digest. Vol. 2 No. 2

Page | 55