CYTOGENETICS

THE CELL
(MODULE 2)

The cell is the fundamental units of structure and function – from microorganisms to the most
gigantic of all living organisms.
CELL STRUCTURE AND COMPONENTS
Our bodies include more than 290 differentiated cell types that aggregate and interact to form the
basic tissues.
 Most cells are somatic cells (body cells) and are said to have
two copies of the genome (diploid).
 Germ cells which are sperm and egg cells, have one copy of
the genome and are haploid.
o The meeting of the sperm and egg restores the diploid
state.
 Stem cells are diploid cells that divide to give rise to
differentiated cells and replicate themselves in a process
called self-renewal.
o They enable the body to develop, grow, and repair damage.
CHEMICAL CONSTITUENTS
 Cells are composed of macromolecules.
o Carbohydrates (sugars and starches) – provide energy and contributes to cell structure
o Lipids (fats and oils) – forms basis of some hormones, membranes, provides insulation, &
stores energy
o Proteins – enables blood clotting, forms bulk of connective tissue
 Enzymes catalyze biochemical reactions to sustain life
 Nucleic Acids (DNA and RNA) – translate information from past generations into specific
proteins that give a cell its characteristics
ORGANELLES

Figure 2.1 shows the organelles in a

generalized animal cell.
Organelles provide specialized functions for the cell. Different cell types have different numbers of
organelles.
All cell types have a single nucleus, except for RBCs, which expel their nuclei as they mature. The
most prominent organelle of cells is the nucleus as shown in Figure 2.2

The nucleus is the genetic headquarters. The nucleus lies within two membrane layers that make up
the nuclear envelope.
Nuclear pores allow specific molecules to move in and out of the nucleus through the envelope.
SUMMARIZES THE STRUCTURE AND FUNCTIONS OF ORGANELLES.

ORGANELLE STRUCTURE FUNCTION

Endoplasmic reticulum Membrane network; rough ER
has ribosomes, sooth ER does
not
Golgi apparatus Stacks of membrane- enclosed
sacs
Lysosome Sac containing digestive
enzymes
Mitochondrion Two membranes; Inner
membrane enzyme-studded
Nucleus Porous sac containing DNA
Peroxisome Sac containing enzymes
Ribosome Two associated globular
subunits of RNA and protein
Vesicle Membrane- bounded sac
Site of protein synthesis and
folding, lipid synthesis
Site where sugars are made
and linked into starches or
joined to lipids or proteins;
proteins finish folding;
secretions stored
Degrades debris; recycles cell
contents
Releases energy from nutrients,
participates in cell death
Separates DNA with in cell
Breaks down and detoxifies
various molecules
Scaffoid and catalyst for protein
synthesis
Temporarily stores or
transports substances
PLASMA MEMBRANE
 Is a bilayer of molecules called phospholipids which forms the structural backbone (See Figure
2.4).

 It has an outer “hydrophilic” layer and an inner “hydrophobic” layer. The inner region blocks
entry & exit to most substances that dissolve in water.
 Certain molecules can cross the membrane when a “carrier” protein escorts the molecules.
Some membrane proteins form channels for ions.
 Signal transduction is a process wherein a series of molecules form pathways that detect
signals from outside the cell and transmit them inward.
 Cellular adhesion is a process wherein the cell membrane helps cells attach to certain other
cells
CYTOSKELETON
 Is a meshwork of protein rods
and tubules that serves as the
cell’s architecture, positioning
organelles overall providing 3D
shape.
 It includes the 3 major types of
elements: microtubules,
microfilaments, and intermediate
filaments (See Figure 2.5).
 They are distinguished by
protein type, diameter and how
they aggregate into larger
structures. Other proteins
connect these components,
creating a framework that
provides the cell’s strength and
ability to resist force and
maintain shape.
 PROKARYOTES VS. EUKARYOTES

PROKARYOTES
 Prokaryotes which include bacteria, blue-green algae, spirochetes, rickettsia and mycoplasma
organisms, are very small living cells that reproduce asexually by a process that does not
involve mitosis.
 They have no membranes, except the cell membrane and no cytoplasmic organelles such as
vacuoles, mitochondria, endoplasmic reticulum or photosynthetic plastids (See Figure 2.6).
 Prokaryotic cells have photosynthetic pigments, such as found in cyanobacteria (blue
bacteria).
 Some prokaryotic cells have external whip-like flagella for locomotion or hair like pili for
adhesion.
 Prokaryotic cells come in multiple shapes: Cocci (round), Bacilli (rods) and Spirilla or
Spirochetes (helical cells).
 Prokaryotes have a single chromosome consisting of a tightly coiled molecule of
deoxyribonucleic acid that is not associated with protein and is not separated from the
cytoplasm by a membrane.
 Prokaryotes are thought to be the first cells that arose in evolution.
EUKARYOTES
 Eukaryotic cells make up organisms
from the protists, fungi, plant and animal
kingdoms.
 A eukaryote or eukaryote, is any life
form consisting of one or more cells that contain
a membrane-bound nucleus and organelles
separate from the plasma membrane enveloping
the cell (See Figure 2.7).
 Cells of higher plants and animals are
eukaryotic.
  Cells of this type are larger and more complex than prokaryotic cells.
 Eukaryotic cells have a true nucleus containing the DNA as well as various other membrane-
bound organelles. These include mitochondria, the rough and smooth endoplasmic reticulum,
and the nucleus.
 Eukaryotes apparently evolved from prokaryotes somewhere back in Pre-Cambrian time (long
period of geological history between the formation of the earth, about 4 billion years ago).
SIMILARITIES BETWEEN EUKARYOTIC AND PROKARYOTIC CELLS
 Cell Membrane - Both bear a lipid bilayer which acts as a selective barrier between the
internal and external environment of the cell.
 Genetic Material – Both use DNA as the basis for their genetic information. This DNA is
needed to regulate and inform cell function through the creation of RNA by transcription,
followed by translation into proteins.
 Ribosomes – facilitate RNA translation & the creation of protein, which is essential to the
functioning of both eukaryotic and prokaryotic cells.
 Cytoplasm - In eukaryotic cells, the cytoplasm comprises everything between the plasma
membrane and the nuclear envelope, including the organelles; the material within the nucleus
is termed the nucleoplasm.
In prokaryotes the cytoplasm encompasses everything within the plasma membrane, including the
cytoskeleton and genetic material.

DIFFERENCES BETWEEN EUKARYOTIC AND PROKARYOTIC CELLS

 Cell Size - Eukaryotic cells are ordinarily larger (10 – 100um) than prokaryotic cells (1 –
10um).
 Cell Arrangement – Eukaryotes are often multicellular whereas prokaryotes are unicellular.
There are however some exceptions – unicellular eukaryotes include amoeba, paramecium and
yeast cells.
 True Membrane-bound Nucleus – Eukaryotes have a true nucleus bound by a double
membrane compared to Prokaryotes. It contains the DNA-related functions of the large cell in
a smaller enclosure to ensure close proximity of materials and increased efficiency for cellular
communication and functions.
In contrast, the smaller Prokaryotic cells have no nucleus. The materials are already fairly close to
each other and there is only a “nucleoid” which is the central open region of the cell where the DNA
is located.
 DNA Structure - Eukaryotic DNA is linear and complexed with packaging proteins called
"histones," before organization into a number of chromosomes.
Prokaryotic DNA is circular and is neither associated with histones nor organized into chromosomes. A
prokaryotic cell is simpler and requires far fewer genes to function than the eukaryotic cell.
Therefore, it contains only one circular DNA molecule and various smaller DNA circlets (plasmids).
 Membrane-bound organelles - Eukaryotic cells contain many membrane-enclosed, large,
complex organelles in the cytoplasm whereas prokaryotic cells do not contain these
membrane-bound organelles. This is a key difference because it allows a high level of
 intracellular division of labor and contributes to the greater complexity characteristic of
eukaryotic cells.
Due to the larger size of the eukaryotic cells, confining certain cellular process to a smaller area also
increases the efficiency of functions by improving communication and movement within the cell. Only
eukaryotes possess a membrane-bound nucleus and membrane-bound organelles such as the
mitochondria, golgi apparatus, lysosomes, peroxisomes and ER.

 Ribosome Size - Both eukaryotic and prokaryotic cells contain many ribosomes; however,
the ribosomes of the eukaryotic cells are larger than prokaryotic ribosomes i.e. 80S compared
to 70S. Eukaryotic ribosomes also show more complexity than prokaryotic – they are
constructed of five kinds of ribosomal RNA and about eighty kinds of proteins.
In contrast, prokaryotic ribosomes are composed of only three kinds of rRNA and about fifty kinds of
protein.
 Cytoskeleton – This is a multicomponent system in eukaryotes composed of microtubules,
actin filaments and intermediate filaments. It is required for maintaining cell shape, providing
internal organization and mechanical support. It is also paramount in movement and cell
division.
 Sexual Reproduction – Most eukaryotes undergo sexual reproduction whilst prokaryotes
reproduce asexually. Sexual reproduction in eukaryotes results in offspring with genetic
material which is a mixture of the parents’ genome and during this process, genetic variation is
generated via sexual recombination.
On the other hand, a prokaryote will reproduce clones of itself via binary fission and relies more on
horizontal genetic transfer for variation.
 Cell Division - This occurs by mitosis for eukaryotic cells and binary fission for prokaryotic
cells. Eukaryotic cells undergo mitosis then cytokinesis. This involves numerous stages - the
nuclear membrane disintegrates then the chromosomes are sorted and separated to ensure
that each daughter cell receives two sets (a diploid number) of chromosomes. Following this,
the cytoplasm divides to form two genetically identical daughter cells i.e. cytokinesis.
In contrast, prokaryotes undergo a simpler process of binary fission. This is faster than mitosis and
involves DNA (nucleoid) replication, chromosomal segregation, and ultimately cell separation into two
daughter cells genetically identical to the parent cell. Unlike mitosis, this process does not involve the
nuclear envelope and centromere and spindle formation.
CELL CYCLE, DIVISION & DEATH
In a human body, new cells form as old ones die, at different rates in different tissues.
Growth, development, maintaining health, and healing from disease or injury require an intricate
interplay between the rates of mitosis and cytokinesis, which divide the DNA and the rest of the cell,
respectively, and apoptosis, a form of cell death.
Figure 2.8 shows how mitosis and apoptosis help mold a body. Figure 2.8a shows how cell numbers
increase from mitosis and decrease from apoptosis. Figure 2.8b shows how in the embryo, apoptosis
carves fingers and toes from webbed structures. In syndactyly, apoptosis fails to carve digits, and
webbing persists
THE CELL CYCLE
A cell cycle is a series of events which describes the sequence of activities as a cell prepares to
divide and then does. Cell cycle rate varies in different tissues at different times. Some cells continue
dividing even after a person die. Frequent mitosis enables the embryo and fetus to grow rapidly. By
birth, the mitotic rate slows dramatically. Later on, mitosis maintains the numbers and positions of
specialized cells in tissues and organs.
The cell cycle is continual, but we describe it with stages. The two major stages are interphase (not
dividing) & mitosis (dividing) as shown in Figure 2.9. In mitosis, a cell duplicates its chromosomes,
then in cytokinesis it apportions one set of chromosomes into each of two resulting cells, called
daughter cells. The division maintains the set of 23 chromosome pairs characteristic of a human
somatic cell. Another form of cell division, meiosis, produces sperm or eggs, which have half the
amount of genetic material in somatic cells, as 23 single chromosomes.
INTERPHASE
 During Interphase, a cell continues the basic biochemical functions of life while replicating its
DNA and other subcellular structures. Interphase is divided into two gap phases (G1 and G2) &
one synthesis phase (S).
 A cell can exit the cell cycle at G1 to enter a quiet phase called G0. A cell in G0 phase,
maintains its specialized characteristics but does not replicate its DNA or divide. From G0, a
cell may also proceed to mitosis and divide, or die (See Figure 2.10).
 Apoptosis may ensure if the cell’s DNA is so damaged that cancer might result. G0 then is
when a cell’s fate is either decided or put on hold.
  During G1, which follows mitosis, the cell resumes synthesis of biomolecules which contribute
to building the extra plasma membrane required to surround the two new cells that form from
the original one.
 G1 is the period of the cell cycle that varies the most in duration among different cell types.
Slowly dividing cells, like liver cells, may exit at G1 & enter G0 where they remain for years.
 Rapidly dividing cells in the bone marrow sped through G1 in 16-24 hours. Cells of the early
embryo may skip G1 phase entirely.

 During S phase, the cell replicates its entire genome. As a result, each chromosome then
consists of two copies joined at an area called the centromere. In most human cells, S phase
takes 8-10 hours.
 Many proteins are synthesized during this phase, including those that form the mitotic spindle
that will pull the chromosomes apart. Microtubules form structures called centrioles near the
nucleus. Centriole microtubules join with other proteins and are oriented at right angles to
each other, forming paired, oblong structures called centrosomes that organize other
microtubules into the spindle.
 G2 occurs after the DNA has been replicated but before mitosis begins. More proteins are synthesized
during this phase. Membranes are assembled from molecules made
during G1 and are stored as small, empty vesicles beneath the plasma
membrane.
 These vesicles will merge with the plasma membrane to enclose the 2
new daughter cells.

MITOSIS

 As mitosis begins, the replicated chromosomes are condensed enough

to be visible, when stained, under a microscope.
 The 2 long strands of identical chromosomal material in a replicated
chromosome are called chromatids, and the space between them is a
furrow (See Figure 2.11).
 At a certain point during mitosis, a replicated chromosome’s
centromere splits. This allows its chromatid pair to separate into 2
individual chromosomes that have all of the genetic material of that
chromosome. Although the centromere of a replicated chromosome
appears as a constriction, its DNA is replicated.
 Figure 2.12 describes the major events happening in mitosis.
CONTROL OF CELL CYCLE

 When and where a somatic cell divides is crucial to health. Illness can result from abnormally regulated
mitosis. Too little mitosis, and an injury goes unrepaired; too much, & an abnormal growth forms.
 Groups of interacting proteins function at specific times in the cell cycle called checkpoints to ensure
that chromosomes are faithfully replicated and apportioned into daughter cells (See Figure 2.13).
o DNA damage checkpoint - temporarily pauses the cell cycle while special proteins repair damaged
DNA.
o Apoptosis checkpoint – turns on as mitosis begins. Proteins called survivins override signals telling
the cell to die, ensuring that mitosis (division) rather than apoptosis (death) occurs.
o Spindle assembly checkpoint – oversees construction of the spindle & the binding of
chromosomes to it.

 Cells obey an internal clock that tells them approximately how many times to divide. The mitotic clock
ticks down with time. Cells know how many divisions remain through the chromosome tips called
telomeres. Telomeres function like cellular fuses that burn down as pieces are lost from the ends. At
each mitosis, telomeres lose bases, gradually shortening the chromosome.
 After about a critical length of telomere DNA is lost, it would signal mitosis to stop. The cell may remain
alive but not divide again, or it may die. Not all cells have shortening telomeres. In egg cells, sperm
 cells, cancer cells, bone marrow cells, they have an enzyme called telomerase which keeps
chromosome tips long. However, most cells do not produce this enzyme and their chromosomes
gradually shrink. Hormones and growth factors are chemical signals that control the cell cycle from the
outside.

APOPTOSIS

 Apoptosis rapidly & neatly

dismantles a cell into
membrane-enclosed pieces that
a phagocyte (a cell that engulfs
and destroys another) can mop
up.
 Apoptosis is also a continuous
process. It begins when a
“death receptor” on the cell’s
plasma membrane receives a
signal to die. Within seconds,
enzymes called caspases are
activated inside the doomed
cell, stimulating each other and
snipping apart various cell
components.
 Figure 2.14 shows the steps in
apoptosis.

STEM CELLS

Stem cells and progenitor cells renew tissues so that as

the body grows, or loses cells to apoptosis, injury, and disease,
other cells are produced that take their places. A stem cell
divides by mitosis to yield either 2 daughter stem cells like itself,
or one stem cell and one progenitor cell (See Figure 2.15).

Stem cells provide raw material for producing specialized

cells, while retaining the ability to generate new cells. Ex. a
hematopoietic stem cell in the bone marrow produces
progenitors whose daughter cells are specialized blood cells.

Self-renewal is what makes a stem cell a stem cell – its

ability to continue the lineage of cells that can divide to give rise
to another cell like itself. A progenitor cell CANNOT self-renew,
and its daughter cells specialize as any of a restricted number of
cell types. Figure 2.16 shows part of a few lineages.

Stem cells & progenitor cells are described in terms of

developmental potential:

 Totipotent – which means it can give rise to every cell

type, including the cells of the membranes that support
the embryo.
 Pluripotent – their daughter cells have fewer possible
fates
 Multipotent – daughter cells have only a few developmental choices
STEM CELL SOURCES

There are 3 general sources of human stem cells as summarized.

STEM CELL TYPE SOURCE

Embryonic stem cell Inner cell mass of embryo; somatic cell nuclear
transfer into egg cell
Induced pluripotent stem cell Genes or other chemicals reprogram somatic cell
nucleus no embryos required.
“adult” stem cell Somatic cells that normally function as stem cells,
from any stage of development from fertilized ovum
through elderly

CELLULAR FUNCTIONS

The cell membrane is semi- permeable/ selectively permeable.

(of a material or membrane) allowing certain

substances to pass through but not others,
especially allowing the passage of a solvent
but not of certain solutes.
The cell membrane allows only certain substances to pass through.

The larger the molecules the more porous the

membrane are the harder for such components
to enter.

DIFFUSION

- It is the movement of molecules from a region of high concentration to a region of low concentration.
- Diffusion process could either be liquid or gases.

OSMOSIS

- It is the diffusion of water across a semi- permeable membrane from a weak solution to a strong
solution.
TWO CONDITION FOR OSMOSIS TO OCCUR:

1. A semi- permeable membrane.

2. A difference in concentration.

Red blood cells are placed in solutions of a different sugar concentration.

1. Water entering RBC= water leaving, no change in RBC size (ISOTONIC)

2. RBC are dilute compared to external solution & lose water, RBC shrinks (HYPERTONIC)
3. RBC take up water, swell and finally burst (HYPOTONIC)

ACTIVE TRANSPORT

- Is when substances cross the cell membrane against a concentration gradient, using energy and
carriers in the membrane.

ATP (ADENOSINE TRIPHOSPHATE)

- Battery of cell. The one who supply the energy of the body

PASSIVE TRANSPORT

- Movement of other materials across the cell membrane.

- Concentration must be higher on one site than the other for there to be movement.
CARRIER- MEDIATED TRANSPORT MECHANISMS

Facilitated Diffusion- the passive movement of molecules along the concentration gradient. It is a selective
process, i.e., the membrane allows only selective molecules and ions to pass through it. It, however, prevents
other molecules from passing through the membrane; Transport Proteins are “doors”

Endocytosis
- Process by which cells take in substances from outside by engulfing them. These can include things like
nutrients to support the cell or pathogens that immune cells engulf and destroy.
Materials enter the cell  cell membrane “pinches in”  vesicle forms inside cell
Phagocytosis
- Process by which a cell uses its plasma membrane to engulf a large particle, giving rise to an internal
compartment called the phagosome. It is one type of endocytosis. A cell that performs phagocytosis is
called a phagocyte.
Pinocytosis
- (“pino” means “to drink”) is a process by which the cell takes in the fluids along with dissolved small
molecules. In this process, the cell membrane folds and creates small pockets and captures the cellular
fluid and dissolved substances.
Exocytosis

- A form of active transport in which a cell transports molecules out of the cell. As an active transport
mechanism, exocytosis requires the use of energy.

Materials exit the cell  membrane wrapped particles merge with the cell membrane and are
paused into the environment.

CELL STRUCTURES (AND THEIR FUNCTIONS)

Cell Theory

1. All living things are made up of cells.

2. Cells are the smallest working units of all living things
3. All cells come from pre-existing cells through cell division

Definition of Cell

A cell is the smallest unit that is capable of performing life functions.

PROKARYOTIC

- They are the simplest form of life.

- No nucleus.
- Do not have structures surrounded by membranes (organelles)
- Few internal structures
- They are unicellular (one- celled organisms)
- Example: bacteria
Eukaryotic

- Are the most complex form of life.

- They have nucleus
- Contain organelles surrounded by membranes
- They are multicellular organisms (composed of many cells)
- Most living organisms
- Examples: animals and plants

Common Characteristics

 All cells are surrounded by a barrier called the cell membrane

 They contain the molecule that carries biological information- DNA

DIFFERENTIA BETWEEN ANIMAL AND PLANT CELLS

Animals are all multicellular, meaning multiple cells work together to form the whole organism.

In complex organisms, such as humans, these cells can be highly specialized to perform different functions. As
such, they often look the function very differently from one another, even though they are all human cells.
There are lots of different animal cells that each carry out specialized functions. Therefore, not every animal
cell has all types of organelles, but in general, animal cells do contain most (if not all) of the following
organelles. Additionally, some organelles will be highly abundant in certain cells and not others.

CELL STRUCTURES AND FUNCTIONS

ORGANELLES
 Cytoplasm lies between the cell membrane and nucleus and contains the organelles
 Cytosol is a gelatin life aqueous fluid that contains salts, minerals and organic molecules.
MITOCHONDIRA

 Sites of chemical reactions that transfer energy from organic compounds to ATP
 ATP- main energy source for cells
 Cells with high energy requirements have more mitochondria ex: muscle and liver cells
 Have 2 membranes
 Smooth outer membrane serves as a boundary between the mitochondria and the cytosol
 Inner membrane has many folds called Cristae- they enlarge the surface area for more chemical
reactions
 Have their own DNA (for reproduction)
 They are called the “POWER HOUSE” of the cell

RIBOSOMES

 Most numerous
 Not surrounded bu a membrane
 Made up of proteins and RNA
 RNA is packaged into the ribosomes then transported to the cytosol
 Some ribosomes are free
 Some are attached to the endoplasmic reticulum
 Protein is synthesized (produced) in the ribosomes
 Proteins to be used in the cytosol- free ribosomes
 Proteins to be exported or inserted in the cell membrane- ribosomes on the ER
ENDOPLASMIC RETICULUM

 System of membranous tubules and sacs

 Intracellular Highway- molecules move from one part of the cell to another
 2 types- rough and smooth
 Rough covered by ribosomes- prominent in cells that make large amounts of proteins to be exported
from the cell
 Smooth- no ribosomes
 Synthesis of steroids in gland cells
 Regulation of calcium in muscle cells
 Breakdown of toxic substances in liver cells.

GOLGI APPARATUS

 Processing, packaging and secreting organelle

 System of membranes
 Series of flattened sacs with convex shape
 Works with the ER to modify proteins

LYSOSOME

 Small spherical organelles

 Enclose hydrolytic enzymes with in single membranes
 Digest proteins, carbohydrates, lipids, DNA and RNA
 Digest old organelles, bacteria, viruses
 Rare in plant cells

CYTOSKELETON

 Maintains the shape and size of cell

 Network of long protein strands
 Not surrounded by a membrane
 Participates in the movement of organelles
 2 major components- microfilaments and microtubules
 Microfilaments- threads make of actin (protein)- smallest strands
 Microtubules- largest strands that are hollow tubes- help the cell divide by forming spindle fibers that
extend across the cell

CILIA AND FLAGELLA

 Hair like organelles that extend from the surface of the cell
 Assist in movement
 Cilia- short and present in large numbers
 Flagella- long and less numerous

NUCLEUS

 Most prominent structure

 Maintains it shape with a protein skeleton called a nuclear
matrix
 Double membrane- nuclear envelope
 Inside the envelope- chromatin (DNA & protein)
 When the cell is about to divide it forms the chromosomes
 Stores hereditary information in its DNA
 RNA is copied from DNA
  RNA travels from nucleus to the cytosol through small holes in the envelope- nuclear pores
 Contains the nucleolus- the site where ribosomes are synthesized.

NUCLEOLUS

 Inside nucleus
 Contains RNA to build proteins
 Site where ribosome are synthesized

CENTRIOLES are paired barrel- shaped organelles located in the cytoplasm of animal cells near the nuclear
envelope. They play a role in organizing microtubules that serve as the cell’s skeletal system and help
determine the locations of the nucleus and other organelles with in the cell

PEROXISOMES are small vesicles, single membrane- bound organelles found in the eukaryotic cells. They
contain digestive enzymes for breaking down toxic materials in the cell and oxidative enzymes for metabolic
activity.

CELL WALL

 Most commonly found in plant cells and bacteria

 Supports & protects cells

CHLOROPLAST

 Usually found in plant cells

 Contain green chlorophyll
 Where photosynthesis takes place
NUCLEOLUS
NUCLEUS

CYTOPLASM

ROUGH ER

CENTRIOLES

GOLGI APPARATUS

MITOCHONDRIA
CELL
MEMBRANE
RIBOSOMES
LYSOSOMES/
PEROXISOMES