Unit 2 Development, Plants and the Environment

Topic 3: The Voice of the Genome

Describe the Ultrastructure of an animal (eukaryotic) cell and recognise these
organelles from EM images.

Name
Nucleus

Nucleolus
Golgi apparatus

Lysosomes

Structure
Two membranes.
Pores in the nuclear
envelope.
Contains chromosomes
and a dark and dense
area called the nucleolus.
A dense body within the
nucleus
Stacks of flattened,
membrane bound sacs.
Each sac is smaller than
the previous one.
Organelle enclosed by a
single membrane.
Digestive enzymes
inside.

Function
The DNA in
chromosomes contains
genes that control the
synthesis of proteins

Makes ribosomes.

Modifies and packages

proteins in vesicles for
transport.
Makes lysosomes.
The digestive enzymes
are involved in the
breakdown of unwanted
structures within a cell.
Also the destruction of
an entire cell when a
new one is formed.

Centrioles

Two hollow cylinders

90 degrees of each other
Made up of a ring of
nine protein
microtubules.

Mitochondrion

Smooth Endoplasmic Reticulum

Rough Endoplasmic Reticulum

Two membranes
Inner membrane folded
inward to form a fingerlike projection.
A series of
interconnected
membrane bound,
tubular sac.
A series of
interconnected
membrane bound,
flattened sac.
Ribosomes on the
surface.

Found only in animal

cells.
Involved in the
formation of spindles
during cell division.
Transport within the cell
cytoplasm.
Separation of
chromosomes during
cell division.
Site of aerobic
respiration.
Where ATP is made.

Makes and processes

lipids and steroids.

The ribosomes make the

proteins.
The ER transports the
protein to other parts of
the cell.

Explain the rule of rough endoplasmic reticulum and the Golgi apparatus in
protein transport within cells and including its role in formation of extracellular
enzymes.
In the beginning
1.
2.
3.
4.

Transcription of DNA to mRNA.

mRNA leaves nuclear envelope.
Proteins made on ribosomes enter rough ER.
Protein moves through the ER assuming three-dimension shape en route.

5.
6.
7.
8.
9.

Vesicles pinched off the rough ER contain the protein.

Vesicles from rough ER fuse to form the flattened sacs of the Golgi apparatus.
Proteins are modified within the Golgi apparatus.
Vesicles pinched off the Golgi apparatus contain the modified protein.
Vesicle fuses with cell surface membrane releasing protein, such as extracellular enzymes.

Distinguish between eukaryotic and prokaryotic cells in terms of their structure.

Differences between Prokaryotic cells and Eukaryotic cells

Eukaryotes

Prokaryotes

Larger cells
DNA is linear
Nucleus present DNA is inside nucleus
No cell wall (in animals), cellulose cell wall (in
plants) or chitin cell wall (in lungs)
Many organelles, mitochondria present
Large ribosomes

Extremely small cells

DNA is circular
No nucleus DNA free in cytoplasm
Cell wall made of polysaccharide, but not cellulose
or chitin
Few organelles, no mitochondria
Smaller ribosomes

Example: Human liver cell

Example: E. coli bacterium

Explain the role of mitosis and the cell cycle for growth and asexual reproduction.
Phase
Interphase

Prophase

Metaphase

Anaphase

Telophase

Main Features
Cell grows.
Chromosomes replicate
and condense.
Chromosomes continue
to condense.
Nuclear envelope breaks
down.
Nucleus disappears.
Spindles appear.
Centrioles move to
opposite poles.
Chromosomes line up in
the middle of the cell.
Spindle fibres attach to
the chromosomes.
Fibres attach at the
centromere.
Spindle fibres contract.
Fibres pull chromatids
apart with the
centromere leading.
Chromosomes
decondense.
Nucleolus reappears.
Nuclear envelope
reforms.

Explain how mammalian gametes are specialised for their functions.

Ovum

Large cell incapable of independent movement.

Its drifted along one of the oviducts from the ovary to the uterus by ciliated cells lining the tubes
and by muscular contractions of the tubes.
The cytoplasm of the ovum contains protein and lipid food reserves for a developing embryo.

Sperm

Much smaller than the ovum and can move.

Has a long tail to enable it to swim and its powered by energy released by mitochondria.
To penetrate the ovum, the acrosome in the head of the sperm releases digestive enzymes which
break down the zona pellucida.

Describe the process of fertilisation in mammals and flowering plants and explain
the importance of fertilisation in sexual reproduction.
Stage
Acrosome reaction

Description of events
Acrosome releases digestive enzymes when
sperm head meets the zona pellucida of
egg.
Enzymes digest a channel for sperm to
burrow through to the cell surface
membrane of egg cell.

Membranes fuse

Egg cell response

Meiosis restarted

Fertilisation

Cell surface membrane of sperm and egg

fuse enabling haploid nucleus from sperm
to enter cytoplasm of egg cell.
Special vesicles move towards and fuse
with the cell surface membrane.
They release their contents, which cause
changes in surface layers of egg that stop
other sperm from entering the egg cell.
The presence of the sperm nucleus in the
cytoplasm of the egg cell causes the second
division of meiosis to occur.
The chromosomes from the haploid sperm
nucleus and the haploid egg nucleus fuse
to restore the full complement of
chromosomes, the diploid number.

Fertilisation in flowering plants

Pollen lands on stigma. Absorbs water and break open, releasing three nuclei; two male nuclei
and a pollen tube nuclei.
The pollen tube nuclei begin to secrete digestive enzymes that create a channel to the embryo
sac.
When tube reaches the ovary, it grows through the micropyle (tiny hole in the ovule wall) and
into the embryo sac within the ovule.
In the embryo sac, the tube nucleus disintegrates and the tip of the pollen tube bursts, releasing
the two male nuclei.
The first male gamete fuses with female gamete nucleus and produces a diploid zygote (2n).
Second male gamete fuses with two polar nuclei producing a triploid primary endosperm nucleus
(3n).
The second fusion creates is for food for the embryo.

Importance of sexual reproduction

It restores the full complement of chromosomes.

It allows for genetic variation.

Explain the role of meiosis in the production of gametes and genetic variation
through recombination of alleles and genes including independent assortment
and crossing over.
Meiosis

Production of gametes (sex cells such as sperm and ovum) in animals; each gamete has half the
number of chromosomes (haploid number, 23 in humans) found in a body cell
To allow genetic variation to occur.

Genetic variation
1. Crossing over
During the first division of meiosis, pairs of chromosomes, known as homologous
chromosomes, line up and may swap part of their genetic material; the chromatids will twist,
break off and join the other chromosome.
2. Independent assortment
Since each of the 23 pairs of homologous chromosomes in humans line up either way round, its
highly likely for there to be different combinations when they finally separate.

Explain what is meant by the terms stem cell, pluripotency and totipotency and
discuss the way society uses scientific knowledge to make decisions about the
use of stem cells in medical therapies (e.g. regulatory authorities relating to
human embryo research, ability of stem cells to develop into specialised tissues,
potential sources of stem cells, who could benefit from the therapies, procedures
to obtain stem cells and their risks).
Stem cells
1. Undifferentiated (unspecialised) cells
2. Which keep dividing
3. And that can give rise to other cell types.
Totipotent stem cells

Can give rise to all cell types including embryonic cells.

Pluripotent stem cells (from older embryos)

Can give rise to most cell types but not embryonic cells.

Sources of stem cells

1.
2.

3.

Early embryo cells show totipotency

Older embryo inner cluster of cells show pluripotency
Main source of embryonic stem cells, from unused embryos after IVF.
Differentiated cells some are multipotent cells (e.g. in bone marrow, possibly all
tissues) but most can only make cells of one or a few types.
Nucleus taken from body cell and fused with human egg cell with nucleus removed.
Fused cell divides to form embryo stem cells from this contain patients DNA
Fused stem cells.
4. Umbilical cord stem cells

Embryonic stem cells

Advantages

Easy to grow

Adult stem cells

Fewer ethical issue

Rejection risk
avoided if stem cells
taken from patient

Fused cells

Rejection risk
avoided if nucleus
taken from patient
Potential for treating
genetic disorders
Easy source of
pluripotent stem
cells.

Umbilical cord stem cells

Disadvantages
Possible rejection
Risk of cells
becoming cancerous
Difficult to extract
More difficult to
produce different
types
Risk of infection
when cells extracted
and received
Risk of infection
when cells received
Risk of stem cells
becoming
cancerous.
Cost money
Lots of storage
space.

Using stem cells

Since stem cells can form many different kinds of specialised cell, potentially they could be used
to treat medical conditions where there is a loss, shortage or a reduced function of certain cell
types. For example:

Parkinsons disease progressive loss of nerve cells in the brain that are involved in
muscle control.
Multiple sclerosis the electrical insulating layer surrounding nerve cells breaks down.
Type 1 diabetes caused when cells in the pancreas produces less than the normal level
of insulin in response to a rise in blood glucose concentration.
Burns skin cells damaged so cannot be replaced.

Issues of using embryonic stem cells

Is it acceptable to fuse a human adult cell with a human egg cell to create a stem cell?
Is it acceptable for human embryos to be created for research? (embryos should have the
same human right, unmoral and unethical)
When do embryos become humans and have rights?

Why are regulatory authorities important?

Ensure people stick to the rules.

Educate and make people away.
Ethics.

Explain how cells become specialised through differential gene

expression.
How cells become specialised (differential gene expression)

Correct stimulus given to the unspecialised cells

Some genes are switched on and some are switched off
mRNA is made from active genes only
The mRNA moves to the ribosomes; the ribosomes read the mRNA and the appropriate
protein is made
The protein can permanently alter the structure and function of the cells.

Describe how the cells of multicellular organisms can be organised into

tissues, tissues into organs and organs into systems.
Cells all cells of multicellular
organisms are eukaryotic. Palisade cell
and liver cell are examples

Tissue consist of one or a few

different types of cell that work
together to perform a function.

Organs are made up of various

tissues grouped to work together and
perform their function efficiently.

System comprises of various organs

that work together to perform a large
scale function.

Explain how some phenotypes are affected by alleles at many loci as well as
environment and how this can rise to phenotypes that show continuous
variation.

Continuous variation

Height
Hair colour
Eye colour.

Discontinuous variation

Blood type
Gender

Genetic locus

The location of a gene on a chromosome.

Examples of genotype and environment affecting phenotype

Siamese cat hair colour

Genotype gene codes for the enzyme tyrosinase which helps to make dark fur.
Environment enzyme only active when temperature drops below 31 degrees
Phenotype distinctive colouration of Siamese cat because only body extremities, such
as ears, drop below 31 degrees while rest of body is kept above 31 degrees

Lung Cancer and smoking

Genotype presence of proto-oncogenes involved in regulating the cell cycle

Environment chemical components of cigarette smoke can alter these genes into
oncogenes in lung cells.
Phenotype cell cycle may not be regulated by oncogenes in which case lung cell keep
dividing without a check potentially leading to cancerous tumours in lungs.

Height

Genotype parents might be both tall.

Environment nutrition, eating lots of protein could help growth.

Monoamine oxidase A

Genotype mutation could cause a person to produce no enzyme

Environment taking anti-depressant inhibits it.
Phenotype depression and aggression.