BIOL124: Introduction to Molecular

Biology and Genetics

Molecular basis of cell structure and
function

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 Learning Objectives:
• Distinguish differences between prokaryotic and
eukaryotic organisms.

• Distinguish and identify eukaryotic cell structures,

organelle structures and indicate their biochemical
functions.

Reading Assignment
1. T. Brown, Introduction to genetics, Chapter 4, p. 49-52.
2. William S. Klug, Concepts of Genetics, Chapter 2, p. 21-27.
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All living things are made of

Unicellular organisms are single-

celled and can carry out all of the
functions of life independently.

Multicellular organisms have

specialized cells to carry out specific
functions.
Longitudinal section of a root tip of Maize (Zea mays)
by Science and Plants for Schools on Flickr (CC) http://flic.kr/p/bNNM6M
Unicellular organisms Multicellular organisms

E. coli

Amoeba
Plants

Animals

Saccharomyces
cerevisiae
 There are three major groups of
organisms

Wiki.org 6
 There are three major groups of
organisms
• Prokaryotes – unicellular
(e.g. bacteria)

• Archaea (e.g.
thermophiles)

• Eukaryotes – can be
unicellular or multicellular
(e.g. fungi, animal, human,
plants).

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ribosomes are the only cytoplasmic organelles.

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 Endosymbiosis Theory
• Endosymbiosis is a mutually
beneficial relationship in
which one organism inhabits
the body of another

• Evidence indicates that

mitochondria and chloroplast
are descendants of free living
bacteria that took part in
ancient infections of
eukaryotic cells

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 Cell structure closely relates function

• Muscle cells contain numerous

organelles providing energy
required for muscle contraction.

• Nerve cells are long and thin to

carry impulses over distance.

Pictures adapted from www.imgarce.com

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 Keep In Mind
• Many genetic disorders alter cellular structure
or function
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 Components of a Cell:

The cell is a mass of Protoplasm separated from environment by a

Plasma Membrane (Cell Membrane).

https://www.genome.gov/genetics-glossary/Plasma-Membrane
 Components of a Cell:

Plasma Membrane (Cell Membrane).

-Provides protection for a cell

-Provides a fixed environment

inside the cell

-Transport nutrients into the cell

-Transport toxic substances out of

the cell.

https://www.genome.gov/genetics-glossary/Plasma-Membrane
 Components of a Cell:
The cell is a mass of Protoplasm separated from environment by a
Plasma Membrane. The Protoplasm is made up of two components:
1. Cytoplasm: that contains
 Numerous organelles:
• Mitochondria, Endoplasmic Reticulum
In cytoplasmic
• Golgi Apparatus, Ribosomes matrix
• Lysosomes, Peroxisomes
• The cytoskeleton of the Cell: (a) Microfilaments
(b) Intermediate filaments
(c) Microtubules
• Centrosome and centrioles
 Cytoplasmic Inclusions
• glycogen, lipid droplets, secretion granules, pigments, residual body
(waste)

2. Nucleus: that houses the genome of the cell. Nucleolus, nuclear envelope,
nuclear lamina, nuclear pores, chromatin, nucleoplasm.
Organelles are described as membranous
(membrane-limited) or non-membranous
• Perform the metabolic, synthetic, energy-requiring, and
energy-generating functions of the cell

• All cells have the same basic set of intracellular

organelles, which can be classified into two groups:

① Membranous organelles- endoplasmic reticulum, Golgi

body, lysosomes, mitochondria, vacuoles

② Nonmembranous organelles-
cytoskeleton, centrioles, ribosomes
• What is the difference?

• Non-membranous organelles are not surrounded by

a membrane.

• Membranous organelles are surrounded by a

membrane
 Plasma Membrane
• Lipid bilayer (2 layers).
• 8 to 10 nm
• Primarily consists of Extracellular space
phospholipid, cholesterol, and
protein molecules.
• Cell membranes are involved in a
variety of cellular processes such
as ion and nutrient transport,
recognition of environment Protoplasm
signal (receptor), adhesion.
• Cell injury often manifests as
morphologic changes in the cell’s
plasma membrane (Blebbing).

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CellCell
Membrane Structure
Membrane and Function
Structure and Function

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Plasma Membrane related disease
• Cystic fibrosis
• Lactose intolerance

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 Nucleus
• Command center of cell. Control
of all cell activities

• It stores cell hereditary material

• Separated from cytoplasm by

nuclear envelope Consists of
double layer of membrane

• Nuclear pores permit exchange

between nucleoplasm &
cytoplasm

• Site of DNA replication,

transcription, ribosomal
formation
https://www.genome.gov/genetics-glossary/Nucleus 25
 Nucleus
• Command center of cell. Control
of all cell activities

• It stores cell hereditary material

• Separated from cytoplasm by

nuclear envelope Consists of
double layer of membrane

• Nuclear pores permit exchange

between nucleoplasm &
cytoplasm

• Site of DNA replication,

transcription, ribosomal
formation 26
 Elements within the Nucleus
• Nucleolus (nucleoli)
– Dense nuclear region that functions in synthesis of
ribosomes %10-20 RNA
%70-80 Protein (ribosomal, enzyme)

• Chromatin
– DNA and protein components of nucleus
– Visible as clumps during non-divisional phases

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 Elements within the Nucleus
• Chromosomes
– Thread-like structures in the nucleus that carry
genetic information
– 46 chromosomes (diploid number, 2n) are present in
most human cells

• Genes
– Fundamental units of heredity present on
chromosome

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 Nucleus
• Many genetic disorders alter cellular
structure or function.

 Emery-Dreifuss Muscular Dystrophy

• Emerin protein (in nuclear membrane)
• is a condition that mainly affects muscles
used for movement (skeletal muscles) and
heart (cardiac) muscles.

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 Ribosomes
• Composed of rRNA, proteins
– Consists of
a large subunit and
a small subunit
– Subunits made in nucleolus
• May be located:
– On the endoplasmic reticulum (thereby making it “rough”),
specialized for secretion, lysosomal enzymes
– Free in the cytoplasm, either singly or in groups called
polyribosomes (targeted to the nucleus, mitochondria, or
Ribosomes are a part
peroxisomes/ of the
remain in protein-generating
the cell) factory in the cell.
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 Ribosomes
• Composed of rRNA, proteins
– Consists of
a large subunit and
a small subunit
– Subunits made in nucleolus
• May be located:
– On the endoplasmic reticulum (thereby making it “rough”),
specialized for secretion, lysosomal enzymes
– Free in the cytoplasm, either singly or in groups called
polyribosomes (targeted to the nucleus, mitochondria, or
peroxisomes/ remain in the cell) 31
 Ribosome related disease
Cartilage-Hair Hypoplasia

A disorder of bone growth characterized by short stature (dwarfism) with other

skeletal abnormalities; fine, sparse hair; and abnormal immune system function
(immune deficiency) that can lead to recurrent infections.
https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia
 Endoplasmic Reticulum (ER)
 Both types of ER are continuous with one another.
 plays a role in the transport of materials

 Rough ER- has ribosomes

• Synthesizes and transports gene products (exported
proteins)
• quality checkpoint in the process of protein
production.
 Smooth ER
• synthesize lipids in the cell.
• store for Ca+2 (muscle)
• principal organelle involved in detoxification and
conjugation of noxious substances (alcohol, drugs).
(liver)
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 Endoplasmic Reticulum (ER)
 Both types of ER are continuous with one another.
 plays a role in the transport of materials

 Rough ER- has ribosomes

• Synthesizes and transports gene products (exported
proteins)
• quality checkpoint in the process of protein
production.
 Smooth ER
• synthesize lipids in the cell.
• store for Ca+2 (muscle)
• principal organelle involved in detoxification and
conjugation of noxious substances (alcohol, drugs).
(liver)
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 Endoplasmic Reticulum (ER)
 Both types of ER are continuous with one
another.
 plays a role in the transport of materials

 Rough ER- has ribosomes

• Synthesizes and transports gene products
(exported proteins)
• quality checkpoint in the process of
protein production.
 Smooth ER
• synthesize lipids in the cell.
• store for Ca+2 (muscle)
• principal organelle involved in
detoxification and conjugation of noxious
substances (alcohol, drugs). (liver) 35
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 ER related disease
• Because of metabolism and protein folding roles of
many disease have relation with ER disfunction.

– Diabetes mellitus
– Atherosclerosis
– Alzheimer’s

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Golgi body

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 Golgi body
• Membranous organelles composed
of a series of flattened sacs
• Sort, modify and package proteins
synthesized by the ER
• Packages them in vesicles
• Receives vesicles from ER on cis
face
• Prepares for “shipment” in vesicles
from trans face
• Within cell
• Export from cell (secretion, exocytosis)

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 Golgi complex related disease
• Congenital Disorders of Glycosylation

Glycosylation of a variety of tissue proteins and/or lipids is

deficient or defective.
Lysosomes
 Lysosomes
• Sites of intracellular digestion and turnover of cellular components
• contain digestive enzymes (proteases, nucleases, glycosidases,
lipases, and phospholipases)

• Roughly spherical bodies bounded by

a single membrane.
• Proteins and membrane are
manufactured by the Golgi apparatus.
• Some cells (osteoclast, neutrophils)
may release lysosomal enzymes
directly into ECM.

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 Membrane-bound cell
organelle.
Contains digestive enzymes.
Lysosomes are involved with
various cell processes.

They break down excess or

worn-out cell parts.
They may be used to destroy
invading viruses and bacteria.

If the cell is damaged beyond

repair, lysosomes can help it
to self-destruct in a process
called programmed cell death,
or apoptosis.

https://www.genome.gov/genetics-glossary/Lysosome
 Lysosomal dysfunction
 Gaucher's Disease is a
genetic disease in which a
lipids accumulates in cells
and certain organs.


 Hunter syndrome is a lysosomal storage

disease caused by a deficient (or absent)
enzyme. Causes buildup of
glycosaminoglycans (GACs).
 Peroxisome
• single membrane-bounded organelles containing oxidative
enzymes.
• function to rid the body of toxic substances like hydrogen peroxide, or
other metabolites.

– Enzymes synthesized by free ribosomes in cytoplasm (instead of ER)

– Active in lipid metabolism
– Catalyze reactions that produce hydrogen peroxide H2O2
• Toxic
• Broken down to water & O2 by catalase

• They are a major site of oxygen utilization

and are numerous in the liver where toxic products
are going to accumulate.

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 Peroxisome related disease

• Zellweger syndrome -
caused by defects in any
one of 13 genes, termed
PEX genes, required for the
normal formation and
function of peroxisomes.

• absence of functional
peroxisomes in the cells of
an individual
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 Cytoskeleton
• Maintains cell shape • Phagocytosis
• Facilitates cell mobility • Cytokinesis
• Anchors various organelles • Cell-cell and cell–ECM
adherence
3. Intermediate
1. Microfilaments 7nm 2. Microtubules 25 nm
filaments 10 nm

Actin Vimentin
Under plasma membrane cell shape, Tubulin Support nuclear envelope ,
Support for microvilli in intestinal cell cause movement of organelles holding skin cells tightly together
Cytoskeleton
related disease
• Immotile cilia syndrome
(Kartagener)
• Caused by multiple
mutations that encodes
the DYNEIN gene
• Dynein is responsible
for movements of cilia
• Infertility in males and
chronic respiratory track
infections 49
Centrioles

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 Centrioles
• A pair of complex structures

• Located in a specialized region

called the centrosome

• Associated with the organization

of spindle fibers which play an
important role in the movement
of chromosomes

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Mitochondria (singular: mitochondrion)

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 Mitochondria (singular: mitochondrion)
• Sites of energy production.
• sugars + O2 - - > ATP + CO2 + H2O
• mobile power generators
• Has its own DNA, increase their numbers by division,
synthesize some of their structural proteins
• Most are encoded by nuclear DNA and synthesized on free
polyribosomes of the cytosol
• decide whether the cell lives or dies. (Apoptosis)

inherited solely from mother 53

 Mitochondrial Disorder
• Leber's Hereditary Optic Neuropathy (LHON) is
an inherited form of vision loss. It has a
mitochondrial pattern of inheritance (which is
also known as maternal inheritance).

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 Next week
Inheritance of genes during Eukaryotic Cell
Division – Mitosis

Reading Assignment
T. Brown, Introduction to genetics, Chapter 11

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