Human Genetics

Concepts and Applications

Tenth Edition
RICKI LEWIS

2 Cells

PowerPoint® Lecture Outlines

Prepared by Johnny El-Rady, University of South Florida

Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display
 Introducing Cells
Cellular activities and abnormalities underlie
our inherited traits, quirks, and illnesses
Understanding genetic diseases can
suggest ways to treat the condition

Lack of
Figure 2.1 dystrophin

2
 Introducing Cells
Our bodies include more than 260 cell types

Somatic (body) cells have two copies of

the genome and are said to be diploid

Sperm and egg cells have one copy of the

genome and are haploid

Stem cells can both replicate themselves

and give rise to differentiated cells
3
 Types of Cells
All cells can be divided into two main types

Prokaryotic cells
- Lack a nucleus

Eukaryotic cells
- Possess a nucleus
and other organelles
Figure 2.2

4
 Domains of Life
Biologists recognize three broad categories
of organisms

Archaea – Unicellular prokaryotes

Bacteria – Unicellular prokaryotes

Eukarya – Includes both unicellular and

multicellular eukaryotes
5
 Chemical Constituents
Cells contain four types of macromolecules

Type Examples Functions

Carbohydrates Sugars, starches Energy,
structure
Lipids Fats, oils Membranes,
hormones
Proteins Myosin, collagen Enzymes,
structure
Nucleic Acids DNA, RNA Genetic
information
6
 An Animal Cell
Surrounded by the plasma membrane

Contains:
- Cytoplasm
- Organelles
- Divide labor by partitioning certain
areas or serving specific functions

Figure 2.3
7
 An Animal Cell
Figure 2.3

Figure 2.3
8
 The Nucleus
The largest structure in a cell
Surrounded by a double-layered nuclear
envelope
Contains:
- Nuclear pores that allow movement of some
molecules in and out
- Nucleolus, which is the site of ribosome
production
- Chromosomes composed of DNA and
proteins Figure 2.3
9
 The Nucleus

Figure 2.4

Figure 2.3

Figure 2.4
10
Secretion
illustrates
how
organelles
function
together
to
coordinate
the basic
functions
of life
Figure 2.5
11
 Endoplasmic Reticulum (ER)
Interconnected membranous tubules & sacs

Winds from the nuclear envelope to the

plasma membrane

Rough ER contains ribosomes and is

involved in protein synthesis

Smooth ER does not contain ribosomes

and is important in lipid synthesis
Figure 2.3
12
 Golgi Apparatus
Stack of flat membrane-enclosed sacs

Processing center that adds sugars forming

glycoproteins and glycolipids

Site of final protein folding

Products are released into vesicles that bud

off to the plasma membrane
Figure 2.3
13
 Lysosomes
Membrane-bound sacs
containing > 40 types
of digestive enzymes

Break down bacteria,

cellular debris, and
nutrients

Tay-Sachs is an
inherited lysosomal
storage disorder Figure 2.3
Figure 2.6
14
 Peroxisomes
Sacs with outer membranes studded with
several types of enzymes

Break down lipids, rare biochemicals

Synthesize bile acids

Detoxify compounds from free radicals

Abundant in liver and kidney cells

Figure 2.3
15
 Mitochondria
Surrounded by two
membranes

Site of ATP (energy)

production

Contain their own Figure 2.7

circular DNA

Human mitochondrial
DNA is inherited
only from the mother
Figure 2.3
16
Structures and Functions of
Organelles

Table 2.1 17
 Plasma Membrane
Forms a selective
barrier

A phospholipid
bilayer
Figure 2.8
- Phosphate end
(hydrophilic)
- Fatty acid chains
(hydrophobic)
Figure 2.3
18
 Plasma Membrane
Contains proteins,
glycoproteins,
and glycolipids
- Important to cell
function and
interactions
- May be receptors
- Form channels for
ions
FigureFigure
2.3 2.9
19
 Faulty Ion Channels Cause
Inherited Diseases
Sodium channels
- Mutations lead to absence or extreme pain

Potassium channels
- Mutations lead to impaired heart function and
deafness

Chloride channels
- Mutations leadFigure
to cystic
2.3 fibrosis
20
 Cytoskeleton
A meshwork of
protein rods and
tubules
Includes three major
types of proteins
- Microtubules
- Microfilaments
- Intermediate
filaments Figure 2.3
Figure 2.10 21
 Cytoskeleton Functions
Maintain cell shape

Connect cells to each other

Transport organelles and small molecules

Provide cell motility (some cell types)

Move chromosomes in cell division

Compose cilia Figure 2.3

22
Figure 2.11
23
Figure 2.12
24
 Cell Division and Death
Normal growth and development require an
intricate interplay between the rates of two
processes

Mitosis – Cell division

- Produces two somatic cells from one

Apoptosis – Cell death

- Precise genetically-programmed sequence
Figure 2.3
25
Figure 2.13

Figure 2.12 26
 The Cell Cycle
The sequence of events associated with cell division

G phase: Gap for

growth
S phase: DNA
synthesis
M phase: Mitosis
(nuclear division)
Cytokinesis: Cell Figure 2.14

division
Figure 2.3
27
 Stages of the Cell Cycle
Interphase
- Prepares for cell division
- Replicates DNA and subcellular structures
- Composed of G1, S, and G2
- Cells may exit the cell cycle at G1 or enter G0,
a quiescent phase

Mitosis – Division of the nucleus

Cytokinesis – Division
Figure 2.3
of the cytoplasm
28
 Replication of Chromosomes
Chromosomes are
replicated during
S phase prior to
mitosis
Figure 2.15

The result is two

sister chromatids
held together at
the centromere
Figure 2.3
29
 Mitosis
Used for growth, repair, and replacement

Consists of a single division that produces

two identical daughter cells

A continuous process divided into 4 phases

- Prophase
- Metaphase
- Anaphase
- Telophase Figure 2.3
30
 Mitosis in a Human Cell

Figure 2.15

Figure 2.16
31
 Prophase
Replicated
chromosomes
condense
Microtubules
organize into a
spindle
Nuclear envelope
and nucleolus
break down
Figure
Figure2.3
2.16
32
 Metaphase
Chromosomes line
up on the cell’s
equator

Spindle microtubules
are attached to
centromeres of
chromosomes
Figure
Figure2.3
2.16
33
 Anaphase
Centromeres divide

Chromatids separate and

become independent
chromosomes
- They move to opposite
ends of the cell

Figure
Figure2.3
2.16
34
 Telophase
Chromosomes uncoil

Spindle disassembles

Nuclear envelope
reforms

Figure
Figure2.3
2.16
35
 Cytokinesis
Cytoplasmic division occurs after nuclear
division is complete

Organelles and macromolecules are

distributed between the two daughter cells

Microfilament band contracts, separating

the two cells
Figure 2.3
36
 Cell Cycle Control
Checkpoints ensure that mitotic events
occur in the correct sequence

Internal and external factors are involved

Many types of cancer result from faulty

checkpoints

Figure 2.3
37
 Cell Cycle Control
Figure 2.17

Figure 2.16

38
 Telomeres
Located at the ends of the chromosomes
Contain hundreds to thousands of repeats
of a 6-base DNA sequence
Most cells lose 50-200 endmost bases after
each cell division
After about 50 divisions, shortened
telomeres signal the cell to stop dividing
Sperm, eggs, bone marrow, and cancer
cells produce telomerase that prevent
Figure 2.3
shortening of telomeres 39
Figure 2.18
40
 Apoptosis
Begins when a cell receives a “death signal”

Killer enzymes called caspases are

activated
-Destroy cellular components

Phagocytes digest the remains

Dying cell forms bulges called blebs

Figure 2.3
41
Programmed cell death is part of normal development

Figure 2.19

Mitosis and apotosis work

together to form functional body

Cancer can result from too much

mitosis, too little apotosis
Figure 2.18 42
 Cell-to-Cell Interactions
Make multicellular life possible

Two broad types

1) Signal transduction
2) Cellular adhesion

Defects cause certain inherited disorders

Figure 2.3
43
 Signal Transduction
The process of transmitting a signal from
the environment to a cell
- Receptor binds to “first messenger”
- Interacts with regulator
- Causes enzyme to produce “second
messenger”
- Elicits cellular response, which is
typically enzyme activation
- AmplificationFigure
due 2.3
to cascade
44
 Signal Transduction
Figure 2.20

Figure 2.19
45
 Cellular Adhesion
A precise sequence of interactions among
proteins that connect cells

Example = Inflammation
- Three types of cellular adhesion
molecules (CAMs) help guide WBCs to
the injured area
- Secretins, integrins, and adhesion
receptor proteins
Figure 2.3
46
 Cellular Adhesion
Figure 2.21

Figure 2.20 47
 Stem Cells
A stem cell divides by
mitosis
- Produces daughter
cells that retain the
ability to divide and
some that specialize
Progenitor cells do
not have the capacity
of self-renewal
Figure 2.3Figure 2.22
48
 Stem Cells
All cells in the human body descend from
stem cells via mitosis and differentiation

Cells differentiate down cell lineages by

differential gene expression

Stem cells are present throughout life and

provide growth and repair
Figure 2.3
49
Figure 2.23

Figure 2.3
50
 Stem Cells
Stem cells and progenitor cells are described
in terms of their developmental potential

Totipotent – Can give rise to every cell type

Pluripotent – Have fewer possible fates

Multipotent – Have only a few fates

Figure 2.3
51
 Stem Cells in Health Care
There are 3 general sources of human stem cells

1) Embryonic stem cells – Created in a lab dish

using the inner cell mass (ICM) of an embryo

2) Induced pluripotent stem (iPS) cells –

Somatic cells reprogrammed to differentiate into
any of several cell types

3) Adult stem cells – Tissue-specific or somatic

stem cells
Figure 2.3
52
 Stem Cells in Health Care

Figure 2.24

Figure 2.24 53
 Stem Cell Applications
Stem cells are being used in four basic ways

1) Discovery and development of drugs

2) Observing the earliest sign of disease

3) Treatment of disease via implants and

transplants

4) Stimulating stem cells in the body via the

introduction of reprogramming
Figure 2.3
proteins
54
 Stem Cell Applications

Figure 2.25 Figure 2.3

55