06/04/2023

GEN2202: GENETICS The Chromosomal Basis of Heredity

Prepared by:
John Albert P. Lachica, Msc.

The Cell The Cell

● Basic unit of life.
● Organization of cells is uniform to all organism
● Two distinct areas:
○ Cytoplasm - the major portion of the protoplasmic substance contained in
the membrane

- most anabolic and catabolic processes

○ Nucleus/Nucleolus - houses the genetic material of the organism

The Cell Cytoplasm

● Several organelles are found in the cytoplasm.

● Concerned with active cell function
● Complex for catabolic and anabolic processes vital for the
organism’s survival
● Organelles may vary in size between different organism and
different tissue

1
 06/04/2023

Mitochondria Golgi Apparatus

Small bodies whose Net-like staining bodies
primary function is to commonly found in cells
provide cellular energy engaged in secretion
through respiration and
oxidation

Endoplasmic Reticulum Ribosome

A cytoplasmic double
walled membrane folded
inn layers that appear to be
connected with the cell
membrane.
Transcription machinery.
Small particles which may
be free floating or attached
to the endoplasmic
reticulum that plays an
important role in protein
synthesis.

Centrosome Chloroplast
Organelle that duplicates Plastids in plant cells
itself and shows which contains chlorophyll
continuous inheritance and other pigments that
between cell generation serve as the harvesting
machinery of the light
spectrum to convert light
energy to chemical energy

2
 06/04/2023

The Nuclear Region The Chromosome Structure

● Primary director of cellular activity and inheritance
● The nuclear content consist of a dark network or chromatin
that becomes distinct bodies during cell division called the
chromosomes.
● One or more spherical bodies called the nucleoli may be
found attached to specific chromosome regions.
Chromosomes usually maintain constant size and shapes at a specific stage of
cell cycle. The condensed chromosome may be short as 0.25 micron or as long
as 30 microns as as in the case of Trilliumm sp.
Mitotic chromosomes are rod like body with the various morphological
markers

Centromeres or Primary Constriction Secondary Constriction

● Permanent well defined region off constriction where kinetochore proteins attach The pinching off of a small
to during chromosome separation. chromosomal section forms the
● The location of the centromere allows the identification of chromosome number satellite.
in some organisms during karyotyping
This secondary constriction is often
associated with regions where
nucleolus is formed or attached

Nucleolus-Organizing
Region Chromomeres and Knobs

When a nucleolus is DNAs is tightly coiled to

visible, it can be seen to be protein called histones,
attached to this nucleolus when stretched this forms
organizing region. The “beads on a string” which
chromosome where this are technically called
region is located is called a chromomeres. Larger
nucleus organizer. beads are called knobs.

3
 06/04/2023

Chromosome Packaging

Cell Division

Mitosis
● Mechanism of cell division by which the genetic material and chromosome
composition of a cell is faithfully reproduced.
● Growing cells undergo the cell cycle. Consist of 4 distinguished phases: Gap 1

MITOSIS
phase, S phase, Gap 2 phase and M phase.
● The G1, S and G2 phases can b distinguished biochemically but not
morphologically and is collectively called the Interphase.

Mitosis G-1 Phase

● Longest phase in Cell cycle
● Cells increase in volume by imbibing water and nutrients to
build new protoplasm
● Organelle synthesis
● A gap for reproductive life of cell

4

S Phase
● Increase in central dogma activity
● Period of DNA replication
● Synthesis of important cell activity
M Phase
● Changes in chromosomes are visible
● Subdivided into 4 stages:
○ Prophase
○ Metaphase
○ Anaphase
○ Telophase
METAPHASE
● Nuclear membrane completely
disappears
● Spindle fibers develop and attach to
opposite sides of the centromere
● Chromosomes condensed and align
in the equatorial plate
06/04/2023
G-2 Phase
● Second gap period
● Characterized by synthesis of RNA and protein necessary for
chromosome synthesis
● Development of mitotic spindle
● Shortest phase of interphase
PROPHASE
● Appearance of supercoiled
contracted thread of DNA -
Chromosome
Chromosome - longitudinal doubled,
each half is called a chromatid.
● Chromosomes shortens and thickens
● Nucleolus diminishes in size
ANAPHASE
● Centromeres become functionally
doubled
● Chromatids begins to move towards
opposite direction
● Separation starts at centromere and
the arms are passively dragged
● Poleward movement is caused by
depolymerization of spindle fibers
attached to kinetochore in the
centromere
5
 06/04/2023

TELOPHASE CYTOKINESIS
● Upon reaching opposite poles, the ● Formation of cell plate
chromatin regroups ● Phragmoplast is formed in metaphase which extend to the lateral walls that
● Two nuclear structure are formed eventually cut the membrane
● Chromonemata unwind and protein
structure disperse
● Nucleolar organizers activated
forming the nuclear envelope

Consequence of Mitosis
● Produce two daughter cells identical to parental cell
● Chromosomes are produced and transmitted equally to the daughter
cells.
● Genes retains individuality regardless of the nature of its allele
○ Chromosomes hold the same relative position at late anaphase to telophase
○ Parts associated with the nucleus remains associated with nucleus during that interval
● Homologues that have mutated retain their separate difference, once
cellular generation from another

Meiosis
● Special kind of cell division that reduces the chromosome number in
half
● Produces the male and female gametes that fuse together during
MEIOSIS fertilization to restore the chromosome number and recombining the
genetic material of the parents.
● Has the G-1, S and G-2 phases
● Consist of 2 nuclear division
○ Meiosis I - Reductional division
○ Meiosis II - Equational division

6

MEIOSIS I
● Prophase I
○ Leptotene stage
○ Zygotene stage
○ Pachytene stage
○ Diplotene stage
○ Diakinesis
● Metaphase I
● Anaphase I
● Telophase I
Prophase I : Zygotene Stage
● Pairing of homologous
chromosome called the
synapsis
● Pairing is specific but there
is no definite starting point
● Formation of a synaptinemal
complex which is composed
of microfibril bridges
between homologous arms
Prophase I : Diplotene Stage
● Diplonema - Separation of
bivalents
● Separation starts from the
centromere to different
poles
● Chiasmata moves towards
the end - terminalization
06/04/2023
Prophase I : Leptotene Stage
● Chromosome are slender,
long and bead like
● Individual structures
● Chromosomes are clumped
in one side of the nucleus or
near the centriole
Prophase I : Pachytene Stage
● Chromosomes are thickened
and are not easily resolved
● Each bivalent consist of 4
chromatids
● Portion of chromatids break
and transfer through
synaptanemal complex
(crossing-over)
● Exchange of homologous
chromosome arm called
chiasmata
Prophase I : Diakinesis
● Separated chromatids
become more contracted
and assume unique
configuration
● Nucleolus begins to
disintegrate and spindle
fibers are formed
7

Metaphase I
● Nuclear membrane disintegrates
● Bivalents move to the metaphase plate
● Centromeres of bivalents are found on
both sides of the metaphase plate
forming tetrads
MEIOSIS II
● Equational division - similar to mitosis
● Production of 4 daughter cells
METAPHASE II
● Two new spindles are
formed in the position of
the nuclei
● Chromosomes align in the
equatorial plate with the
centromes right above the
plane
Anaphase I
● Homologues are segregated from one
another
● Each pole drags half of the ploidy
number of the organism
● Reductional phase of Meiosis I
06/04/2023
Telophase I
● Chromosome regroup and their
coiled structure begins to relax
● Cytoplasm is divided
● Interkinesis - intermediary
transition of the cytoplasm for
Meiosis II
PROPHASE II
● Similar to mitotic
prophase except half of the
chromosome number is
tackled
● Nucleolus and nuclear
membrane disintegrates
ANAPHASE II
● Daughter chromosomes
move towards the opposite
poles.
● Chromosomes move much
like mitotic anaphase
8
 06/04/2023

TELOPHASE II Consequence of Meiosis

● Chromosomes uncoil and ● Meiosis I is reductional division because each daughter cell contains only
lengthens half of the genetic material from the parent cell.
● Nuclear membrane and ● Meiosis II is equational division because each two daughter cells from
Meiosis I undergo mitosis
nucleolus reappears
● Because of reductional division, conservation of chromosome number is
● 4 daughter haploids are possible through gamete formation and fertilization
formed after cytokinesis ● Maternal and paternal chromosomes has equal probability of being located at
one or the other daughter cells
● One representative of each chromatid in a tetrad is present in the 4 daughter
cells
● Crossing-over between non-sister chromatids is the mechanism by which
genes are shuffled resulting in variability