EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED

QUALITY MANAGEMENT SYSTEM

City of Dasmariñas,Cavite

Genes in Development

Dr. Alex S. Perez

Instructor

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

The application of genetic analysis and DNA technology

- Has revolutionized the study of development

Researchers
• Use mutations to deduce developmental pathways
• Have applied the concepts and tools of molecular genetics to the study
of developmental biology
When the primary research goal is to understand broad biological principles
• The organism chosen for study is called a model organism

VIRTUE EXCELLENCE SERVICE

EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

DROSOPHILA MELANOGASTER
(FRUIT FLY)

CAENORHABDITIS ELEGANS
(NEMATODE)

0.25 mm

VIRTUE EXCELLENCE SERVICE

EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

MUS MUSCULUS ARABIDOPSIS THAMANA

(MOUSE) (COMMON WALL CRESS)

DANIO RERIO
(ZEBRAFISH)

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

Embryonic development involves cell division, cell differentiation, and

morphogenesis

In the embryonic development of most organisms

• A single-celled zygote gives rise to cells of many different types,
each with a different structure and corresponding function

The transformation from a zygote into an organism

• Results from three interrelated processes: cell division, cell
differentiation, and morphogenesis

VIRTUE EXCELLENCE SERVICE

EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

(a) Fertilized eggs (b) Tadpole hatching

Figure 21.3a, b of a frog from egg

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

Through a succession of mitotic cell divisions

• The zygote gives rise to a large number of cells

In cell differentiation
• Cells become specialized in structure and function

Morphogenesis encompasses the processes

• That give shape to the organism and its various parts

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite
• The three processes of development overlap in time
(a)
Animal development. Most
Gut
animals go through some Cell
variation of the blastula and movement
gastrula stages. The blastula is
a sphere of cells surrounding a
fluid-filled cavity. The gastrula
forms when a region of the blastula
folds inward, creating a
tube—a rudimentary gut. Once
Zygote Eight cells Blastula Gastrula Adult animal
the animal is mature,
(fertilized egg) (cross section) (cross section) (sea star)
differentiation occurs in only a
limited way—for the replacement
of damaged or lost cells. Cell division
Morphogenesis

(b) Observable cell differentiation

Plant development. In plants
with seeds, a complete embryo Seed
develops within the seed. leaves
Morphogenesis, which involves Shoot
cell division and cell wall apical
expansion rather than cell or meristem
tissue movement, occurs
throughout the plant’s lifetime.
Apical meristems (purple) Root
continuously arise and develop apical
into the various plant organs as Zygote meristem
the plant grows to an (fertilized egg) Two cells Embryo
indeterminate size. Plant
inside seed
VIRTUE Figure 21.4a, b SERVICE
EXCELLENCE
 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

Different cell types result from differential gene expression in cells with the
same DNA

Differences between cells in a multicellular organism

• Come almost entirely from differences in gene expression, not from
differences in the cells’ genomes

Many experiments support the conclusion that

• Nearly all the cells of an organism have genomic equivalence, that is, they
have the same genes

One experimental approach for testing genomic equivalence

• Is to see whether a differentiated cell can generate a whole organism
VIRTUE EXCELLENCE SERVICE
EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite
Transverse
EXPERIMENT section of
carrot root

2-mg
fragments

Fragments cul- Single cells Embryonic Plantlet is cul-

tured in nutrient free in plant develops tured on agar
medium; stir- suspension from a cultured medium. Later
ring causes begin to single cell. it is planted
single cells to divide. in soil.
shear off into
liquid.

RESULTS A single
Somatic (nonreproductive) carrot
cell developed into a mature carrot
plant. The new plant was a genetic
duplicate(clone) of the parent plant.

Adult plant
CONCLUSION At least some differentiated (somatic) cells in plants are toipotent, able
to reverse their differentiation and then give rise to all the cell types in a mature plant.

Figure 21.5
VIRTUE EXCELLENCE SERVICE
 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

A totipotent cell
• Is one capable of generating a complete new organism
Cloning
• Is using one or more somatic cells from a multicellular organism to make
another genetically identical individual

NUCLEAR TRANSPLANTATION IN ANIMALS

In nuclear transplantation
• The nucleus of an unfertilized egg cell or zygote is replaced with the nucleus
of a differentiated cell

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

Experiments with frog embryos

• Have shown that a transplanted nucleus can often support normal
development of the egg
EXPERIMENT Researchers enucleated frog egg cells by exposing them to ultraviolet light, which
destroyed the nucleus. Nuclei from cells of embryos up to the tadpole stage were transplanted into the
enucleated egg cells.

Frog embryo Frog egg cell Frog tadpole

Fully differ-
Less differ- entiated
entiated cell (intestinal) cell
Donor
Donor Enucleated nucleus
nucleus egg cell trans-
trans- planted
planted

Most develop <2% develop

Figure 21.6 into tadpoles into tadpoles

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

RESULTS Most of the recipient eggs developed into tadpoles when the
transplanted nuclei came from cells of an early embryo, which are relatively
undifferentiated cells. But with nuclei from the fully differentiated intestinal
cells of a tadpole, fewer than 2% of the eggs developed into normal tadpoles,
and most of the embryos died at a much earlier developmental stage.

CONCLUSION
The nucleus from a differentiated frog cell can direct
development of a tadpole. However, its ability to do so decreases as the
donor cell becomes more differentiated, presumably because of changes in
the nucleus.

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

• Reproductive Cloning of Mammals

• In 1997, Scottish researchers
- Cloned a lamb from an adult sheep by nuclear transplantation

VIRTUE EXCELLENCE SERVICE

EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite
Egg cell
APPLICATION This method is used to produce cloned Mammary
cell donor donor
animals whose nuclear genes are identical to the donor
animal supplying the nucleus. 1 2
Egg cell
from ovary Nucleus
TECHNIQUE Shown here is the procedure used to produce Nucleus
removed
Dolly, the first reported case of a mammal cloned using the nucleus 3 Cells fused removed
Cultured
of a differentiated cell. mammary cells
are semistarved,
arresting the cell
RESULTS cycle and causing
The cloned animal is identical in appearance dedifferentiation Nucleus from
and genetic makeup to the donor animal supplying the nucleus, mammary cell
but differs from the egg cell donor and surrogate mother. 4 Grown in culture

Early embryo
5 Implanted in uterus
of a third sheep

Surrogate
mother
6 Embryonic
development

Lamb (“Dolly”)
Figure 21.7 genetically identical to
mammary cell donor

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

“Copy Cat”
- Was the first cat ever cloned

Figure 21.8

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

• Problems Associated with Animal Cloning

• In most nuclear transplantation studies performed thus far
- Only a small percentage of cloned embryos develop normally to birth

THE STEM CELLS OF ANIMALS

A stem cell
- Is a relatively unspecialized cell
- Can reproduce itself indefinitely
- Can differentiate into specialized cells of one or more types, given
appropriate conditions

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

Embryonic stem cells

Stem cells can be isolated

Adult stem cells
Early human embryo From bone marrow
at blastocyst stage in this example

• From early embryos at

(mammalian equiva-
lent of blastula)

the blastocyst stage

Totipotent Pluripotent

Adult stem cells Cultured

cells cells

stem cells
• Are said to be
pluripotent, able to give Different
culture

rise to multiple but not all conditions

cell types Liver cells Nerve cells Blood cells

Different
types of
differentiated
cells

Figure 21.9

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

TRANSCRIPTIONAL REGULATION OF GENE EXPRESSION DURING

DEVELOPMENT

• Cell determination
- Precedes differentiation and involves the expression of genes for
tissue-specific proteins
• Tissue-specific proteins
- Enable differentiated cells to carry out their specific tasks

VIRTUE EXCELLENCE SERVICE

EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite
Determination and differentiation of muscle cells
Nucleus Master control gene myoD Other muscle-specific genes

DNA
Embryonic OFF OFF
precursor cell

Determination. Signals from other

1
cells lead to activation of a master
regulatory gene called myoD, and OFF
the cell makes MyoD protein, a mRNA
transcription factor. The cell, now
called a myoblast, is irreversibly
committed to becoming a skeletal MyoD protein
Myoblast muscle cell. (transcription
(determined) factor)

Differentiation. MyoD protein stimulates

2 the myoD gene further, and activates
genes encoding other muscle-specific
transcription factors, which in turn
activate genes for muscle proteins. MyoD
also turns on genes that block the cell
cycle, thus stopping cell division. The
nondividing myoblasts fuse to become
mRNA mRNA mRNA mRNA
mature multinucleate muscle cells, also
called muscle fibers.

Myosin, other
muscle proteins,
MyoD Another and cell-cycle
Muscle cell transcription blocking proteins
(fully differentiated) factor

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

• In the process called induction

- Signal molecules from embryonic cells cause transcriptional
changes in nearby target cells

(b) Induction by nearby cells. The cells at the bottom of the early embryo depicted here are releasing
chemicals that signal nearby cells to change their gene expression.

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

Pattern formation in animals and plants results from similar genetic

and cellular mechanisms

Pattern formation
- Is the development of a spatial organization of tissues and organs
- Occurs continually in plants
- Is mostly limited to embryos and juveniles in animals

Positional information
- Consists of molecular cues that control pattern formation
- Tells a cell its location relative to the body’s axes and to other cells

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

Drosophila Development: A Cascade of Gene Activations

Pattern formation
- Has been extensively studied in the fruit fly Drosophila melanogaster

The Life Cycle of Drosophila

- has been well-described

After fertilization
- Positional information specifies the segments
- Sequential gene expression produces regional differences in the formation of the
segments

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite
Egg cell Follicle cell Nucleus

Key developmental events in developing within

ovarian
follicle
Nurse
cell
Egg cell
Fertilization

the life cycle of Drosophila Fertilized egg

Laying of egg
Egg
shell
Nucleus
Embryo
Multinucleate
single cell

Early blastoderm
Plasma
membrane
formation Yolk
Late blastoderm
Cells of Body
embryo segments
Segmented
embryo
0.1 mm

Hatching
Larval stages (3)

Pupa

Metamorphosis
Head Thorax Abdomen

Adult fly
0.5 mm
Dorsal
BODY Anterior Posterior
Figure 21.12 AXES
Ventral

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

GENETIC ANALYSIS OF EARLY DEVELOPMENT: SCIENTIFIC INQUIRY

The study of developmental mutants

- Laid the groundwork for understanding the mechanisms of
development
Eye

Antenna
Leg

Wild type Mutant

VIRTUE EXCELLENCE SERVICE
 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

AXIS ESTABLISHMENT

Maternal effect genes

- Encode for cytoplasmic determinants that initially establish the
axes of the body of Drosophila

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

Flies with the bicoid mutation

- Do not develop a body axis correctly
Tail
Head

T1 T2 A8
T3 A7
A1 A2 A3 A4 A5 A6
Wild-type larva
Tail Tail

A8 A8
A7 A6 A7
Mutant larva (bicoid)
(a) Drosophila larvae with wild-type and bicoid mutant phenotypes. A mutation
in the mother’s bicoid gene leads to tail structures at both ends (bottom larva).
Figure 21.14a The numbers refer to the thoracic and abdominal segments that are present.

VIRTUE EXCELLENCE SERVICE

EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

Nurse cells Egg cell

1 Developing
egg cell
bicoid mRNA

2 Bicoid mRNA
in mature
unfertilized egg

Fertilization
Translation of bicoid mRNA 100 µm

3 Bicoid protein in
early embryo

Anterior end

(b) Gradients of bicoid mRNA and Bicoid protein in normal egg and early embryo.

VIRTUE Figure 21.14b SERVICE

EXCELLENCE
 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

SEGMENTATION PATTERN
SEGMENTATION GENES
- Produce proteins that direct formation of segments after the embryo’s major
body axes are formed

IDENTITY OF BODY PARTS

The anatomical identity of Drosophila segments
- Is set by master regulatory genes called homeotic genes

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

A summary of gene activity during Drosophila development

Hierarchy of Gene Activity in Early Drosophila Development

Maternal effect genes (egg-polarity genes)

Gap genes

Segmentation genes
Pair-rule genes of the embryo

Segment polarity genes

Homeotic genes of the embryo

Other genes of the embryo

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

C. elegans: The Role of Cell

Signaling 0
Zygote
First cell division

Time after fertilization (hours)

Nervous Musculature, Outer skin, Germ line

The complete cell lineage

system, gonads nervous system (future
outer gametes)
skin, mus-
culature
Musculature

- Of each cell in the

nematode roundworm 10
Hatching

C. elegans is known Intestine

Intestine

Eggs Vulva

ANTERIOR POSTERIOR
1.2 mm

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

Induction 2
Posterior
1
Anterior
4 Signal
3 Receptor protein

As early as the four-cell stage EMBRYO

3
4

in C. elegans
- Cell signaling helps Signal

direct daughter cells down the Anterior Posterior

appropriate pathways, a daughter

cell of 3
daughter
cell of 3

process called induction Will go on to Will go on to

form muscle form adult
and gonads intestine

(a) Induction of the intestinal precursor cell at the four-cell stage.

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

Induction is also critical later in

Epidermis

Signal
nematode development Gonad Anchor cell protein

- As the embryo passes

through three larval stages prior to
becoming an adult Vulval precursor cells

An inducing signal produced by

Outer vulva
ADULT
Inner vulva

one cell in the embryo

- Can initiate a chain of
inductions that results in the Epidermis

formation of a particular organ Figure 21.16b

(b) Induction of vulval cell types during larval
development.

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

PROGRAMMED CELL DEATH

(APOPTOSIS)

IN APOPTOSIS
- Cell signaling is involved in
programmed cell death

Figure 21.17
2 µm

VIRTUE EXCELLENCE SERVICE

 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

In C. elegans, a protein in the outer mitochondrial membrane

- Serves as a master regulator of apoptosis
Ced-9 Mitochondrion
protein (active)
inhibits Ced-4
activity

Ced-4 Ced-3

Death Inactive proteins

signal
receptor Cell
forms
blebs
Ced-9
(a) No death signal (inactive)

Death
signal

Active Active Other

Ced-4 Ced-3 proteases

Nucleases
Activation
cascade
(b) Death signal

Figure 21.18a, b
VIRTUE EXCELLENCE SERVICE
 EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

In vertebrates
- Apoptosis is essential for normal morphogenesis of hands and feet in
humans and paws in other animals
Interdigital tissue

1 mm
Figure 21.19

VIRTUE EXCELLENCE SERVICE

EMILIO AGUINALDO COLLEGE ISO 9001: 2015 CERTIFIED
QUALITY MANAGEMENT SYSTEM
City of Dasmariñas,Cavite

Thank you!

VIRTUE EXCELLENCE SERVICE