INTRODUCTION TO GENETICS

GENETICS is the study of biologically

inherited traits that are passed down from
parents to offspring.
Why study genetics?
- It occupies a pivotal position in the
entire subject of biology
- Central to numerous aspects of human
affairs
GENETIC TERMS
Chromatin:
general
material
that
collectively composes a chromosome, which
is a mixture of DNA and protein
Chromosomes: chromatin fibers coil and
condense into structures
Genes: section of threadlike double-helical
molecule of DNA
DNA: linear, double-helical structure consist
of nucleotides
Nucleotides: consist of phosphate group,
sugar and nitrogenous bases
Alleles: different forms of genes
Traits: manifestation of genes
Variation: differences of individuals among
population
Mutation: not only the basis for variation
but also the raw material for evolution
Diploid: cells contain two copies of their
genome
Haploid: cells contain just one copy of
genome
Homologous: two chromosomes with the
same array of genes
Phenotype: sum total of traits
Genotype: sum total of genes
Phenocopy: environmentally induced traits
Genome: totality of genetic information in
an organism
Centromere: region of chromosome to
which spindle fibers attach
Nucleolus: organelle within the nucleus that
contain ribosomal RNA
Telomeres: ends of chromosomes
MILESTONES IN THE DEVELOPMENT OF
GENETICS
1. Theory of Mendel
- 1866:
Mendels
results
of
experiment was published
- Simple and direct experiments that
determined how traits are passed
from one generation to another
- Transmission genetics
2. Discovery of DNA structure
- James Watson and Francis Crick
discovered the structure of DNA
- Understanding of the chemical
nature of genes and how genetic
information is stored, released to
cell and transmitted from one
generation to the next
- Molecular genetics
3. Analysis of Genomes
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- Scientists learned how to sequence

genes
- Development of recombinant DNA
technology that enable genes to be
transferred from one organism to
another
- Genetic engineering
- Genomics is the application of
recombinant DNA strategies to the
study of whole genomes. It involves
the study of the structure, function
and evolution of genomes.
THREE LEVELS OF GENETIC STUDY
1. Classical Genetics
- Period before the discovery of
genes structure
- Cross experiments
2. Molecular Genetics
- Structure of DNA enables the
scientist to study more such as
recombinant DNA
3. Population Genetics
- Study of allele frequency in
population and how it changed
overtime
METHODOLOGIES USED IN GENETICS
1. Isolation of mutant gene
-shows
how
mutations
affects
biological process
2. Analysis of progeny of controlled
crosses
-identifies genes and their alleles,
chromosomal
locations
and
inheritance patterns
3. Genetic analysis of cells biochemical
processes
-determines how mutant alleles affect
chemical reactions in cell
4. Microscopic analysis
-labelling genes and gene products to
determine their location
5. Direct analysis of DNA
- Gene cloning is the isolation of
individual
genes
and
copied
multiple times
CHROMOSOMAL
THEORY
OF
INHERITANCE
- Independently noted by Walter
Sutton and Theodor Boveri that
genes are parts of specific cellular
structures, the chromosomes
- States that inherited traits are
controlled by genes residing in
chromosomes
which
are
transmitted
through
gametes
maintaining genetic continuity from
generation to generation
- Chromosomes in diploid cells exist
in
pairs,
called
homologous
chromosomes which are identical
in size and location of centromere.

MODEL ORGANISMS
- Chosen partly because of their
different basic biological properties,
small size of individuals, short
generation time and ease with
which they can be grown and
mated under simple controlled
conditions
Viruses (bacteriophages) are used to
study the physical and chemical structure of
DNA and fundamental mechanics of DNA
replication and mutation.
Prokaryotes (Escherichia coli) and
Eukaryotes (Saccharomyces cerevisiae and
Neurospora) allows geneticist to study the
effects of genetic changes in the most basic
biochemical pathways as these organisms
only need carbon source for growth and
metabolism.
Multicellular
organisms
(Arabidopsis
thaliana,
Drosophila
melanogaster, Caenorhabditis elegans, and
Mus musculus) are used to study cell
differentiation and development of body
forms.
MITOSIS AND MEIOSIS
Interphase
- Initial stage of cell cycle for cell
growth and normal functions
- It includes:
- Gap 1 (5hrs) and Gap 2 (3hrs)
involves
intensive
metabolic
activity, cell growth and cell
differentiation; by the end of G2,
the volume of cell has roughly
doubled
- Synthesis (7hrs) where the actual
replication
of
DNA
of
each
chromosomes
occurs.
Each
chromosomes becomes side-byside units called sister chromatids.
- G0 stage is when cells become
quiescent. They remain viable and
metabolically active but are not
proliferative.
MITOSIS leads to the production of two
cells, each with the same number of
chromosomes as the parent cell.
Early Prophase
- Chromosomes become distinct and
gets shorter through condensation;
two pairs of centrioles migrate to
opposite poles of cell
Late Prophase
- Chromosomes appear to be doublestranded called sister chromatids;
cohesin, a multi-subunit protein
complex, held sister chromatids
together;
shugoshin
protects
cohesion from being degraded at
centromeric
regions;
nucleoli
disappear;
nuclear
membrane
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begins to break down; nucleoplasm

and cytoplasm becomes one
Metaphase
- Nuclear
spindle
becomes
prominent that is consist of parallel
fibers that point to each of cell
poles; chromosomes move to the
equatorial plate of the cell where
the centromere become attached
to the spindle fibers from each pole
- Migration: binding of spindle fibers
to structure in centromere of each
chromosomes called kinetochore
- Kinetochore is a multilayered
plates of proteins on opposite sides
of centromere
Anaphase
- Pairs of sister chromatids separate
moving
to
each
pole
by
microtubules which are part of
nuclear spindle; each chromatid is
referred
to
as
daughter
chromosomes
- For
complete
disjunction:
shugoshin must be degraded,
reversing
its
protective
role;
cohesion complex holding the
centromere region of each sister
chromosome is then cleaved by
separase; and sister chromatids of
each chromosomes are pulled
toward the opposite poles of the
cell
- Movement
of
daughter
chromosomes is dependent on
centromere-spindle
fiber
attachment
Telophase
- Nuclear
membrane
re-forms
around each daughter nucleus;
chromosomes uncoil and become
diffused
chromatin;
nucleoli
reappear; spindle fibers dispersed
Cytokinesis
- Essential if two new cells are
produced from one
- In plant cells: cell plate is
synthesized and laid down across
the region of metaphase plate and
becomes middle lamella
- In animal cell: cell furrow forms as
the complete constriction of cell
membrane
MEIOSIS produces gametes or spores with
only one haploid set of chromosomes. It is
highly
specific
and
ensures
genetic
continuity from generation to generation. In
humans and animals, meiosis occurs in
gonads giving rise to gametes sperm and
egg. While in plants, it takes place in anther
and
ovaries
and
the
products
are
microspores that eventually give rise to
gametes.
Meiosis I: Reductional division

Number
of
centromeres
representing one chromosome is
reduced by half
Prophase I: substages
a. Leptotene
- Chromosomes become visible as
long, thin single threads and
continues to condense; small areas
of
thickening
(chromomeres)
develop along each chromosomes
b. Zygotene
- Chromosomes continue to shorten
and thicken and undergo initial
alignment with one another and
become progressively paired or
synapsed
c. Pachytene
- Thick,
fully
synapsed
chromosomes;
number
of
homologous pairs of chromosomes
in nucleus is equal to the number n
d. Diplotene
- Synapsed structure consists of a
bundle
of
four
homologous
chromatids; they separate slightly;
one or more areas remain in
contact
where
chromatids
intertwined; each area are called
chiasma which represents a point
where nonsister chromatids have
undergone
genetic
exchange
through the process of crossing
over
e. Diakinesis
- Chromosomes pull farther apart,
but nonsister chromatids remain
loosely associated via chiasmata;
chiasmata move toward the ends
of tetrad; nucleolus and nuclear
envelope breakdown
Metaphase I:
- Each
pair
of
homologous
chromosome takes up a position in
the equatorial plane; homologous
dyads pair to form structures called
bivalents; two centromeres of
homologous
chromosome
pair
attach to the recently formed
spindle fibers
Anaphase I:
- Begins
when
dyads
move
directionally to the opposite poles
Telophase I:
- Telophase and ensuing interphase,
called
interkinesis,
are
not
universal. In many organisms,
these stages do not exist, no
nuclear membrane re-forms and
cells proceed directly to meiosis II;
the genetic state of chromosomes
does not change
Meiosis II: Equational
- Number of centromeres remains
equal; produce four haploid cells
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Prophase II: Presence of haploid number of

chromosomes in contracted state
Metaphase II: dyads arrange themselves on
the equatorial plane
Anaphase II: Centromeres split and sister
chromatids of dyads are pulled to opposite
poles by spindle fibers
Telophase II: Nuclei re-form around the
chromosomes at the poles
BASIC LIFE CYCLES
1. Diploids
- It arise from fertilized egg and
meiosis take place in special diploid
meiocytes set and results in
haploid gametes. Sperm and egg
cell will unite producing zygote that
subsequently
goes
through
repeated
mitotic
division
to
produce multicellular state.
2. Haploids
- Common in molds and yeast, as
the organism arise as a haploid
spore
which
through
mitotic
divisions produces a branching
network
of
haploid cells
or
population
of
identical
cells.
Meiosis occurs when two haploid
cells of two parental strains fuse to
form temporary diploid meiocyte.
Meiosis takes place in meiocyte,
forming haploid spores.
3. Alternating haploid-diploid generation
- Both haploid and diploid parts grow
by mitosis, but meiosis occurs only
in the diploid stage. During the
haploid stage, the organism is
called gametophyte. During the
diploid part, it is sporophyte. Plants
such as ferns and mosses have
separate free-living haploid and
diploid stages. Flowering plants are
predominantly diploid but have
small haploid gametophytic stage
parasitic on the diploid within the
flower.
DEVELOPMENT OF GAMETES
SPERMATOGENESIS occurs in testes of male
reproductive organs. It begins with the
enlargement
of
spermatogonium,
the
undifferentiated diploid germ cell. It grows to
become a primary spermatocyte. Then, it
undergoes meiosis I producing secondary
spermatocytes. Secondary spermatocytes
undergo meiosis II resulting to haploid
spermatids. The spermatids go through
series of developmental changes called
spermiogenesis
to
become
highly
specialized, motile spermatozoa or sperm.
OOGENESIS is the formation of ovum or egg
cell in the ovaries of female reproductive

organs. The daughter cells in the resulting

meiotic divisions receives equal amount of
genetic material, but receive different
amounts of cytoplasm. Almost all of the
cytoplasm of the primary oocyte is
concentrated in one of the two daughter
cells. This is important function of mature
ovum in nourishing embryo following
fertilization.
During telophase I, the dyads at one
pole are pinched off with very little
surrounding cytoplasm to form the first polar
body which may or may not divide. The other
daughter cell produced in meiosis I that
contain the most cytoplasm is called
secondary oocyte where the mature ovum
will be produced. The cytoplasm of the
secondary
oocyte
divides
unequally
producing ootid and second polar body. The
ootid differentiates into mature ovum.
In oogenesis, the two meiotic division
may not be continuous. In other organisms
such as humans, the first division of oocytes
begin in embryonic ovary but arrest in

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prophase I. Many years later, meiosis

resumes in each oocyte just prior to
ovulation. The second division is completed
only after fertilization.
References:
Griffiths, Anthony J.F., Wessler, Susan R.,
Lewontin, Richard C., Gelbart, William
M., Suzuki, David T., and Miller, Jefferey
H. 2004. An Introduction to Genetic
Analysis, 8th ed.
Klug, William S., Cummings, Michael R.,
Spencer, Charlotte A., and Palladino,
Michael A. 2012. Concepts of Genetics,
10th ed. Pearson Education, Inc.
Hartl, Daniel L. and Jones, Elizabeth W. 1998.
Genetics: Principles and Analysis, 4 th ed.
Jones and Bartlett Publisher, Inc.