Yr 10 Science

Genetics and Evolution

Chromosomes, Genes and DNA
All living things are made of cells.
In the nucleus of eukaryotic cells, DNA
(deoxyribonucleic acid) is found.
DNA is the genetic blueprint for the way that
each cell behaves. More specifically, DNA
instructs the cell to produce particular proteins.
It is the proteins in our body that give us our
unique characteristics, such as eye colour, hair
type, body shape, etc. Simply put, the
instructions to produce a specific protein are
found in sections of DNA called genes.
HISTORY OF DNA
HISTORY OF DNA
1869
• DNA was discovered by Friedrich Miescher
• His team isolated it from pus on bandages!
• He called their discovery nuclein.
HISTORY OF DNA
1929
• Phoebus Levene determined that
the compound had a repeating
structure.
• He called these repeated units
nucleotides.
• He also suggested that these units
link together to form chains.
• His theory was correct, but his
prediction about the way the chains
formed was not.
HISTORY OF DNA
1943-1953
• Oswald Avery , and Alfred
Hershey and Martha Chase
made the suggestion that this
compound was capable of
transferring genetic
information between
generations
HISTORY OF DNA
1950
• Erwin Chargaff
determined that there
were four types of
nucleotides that paired
up within the structure
of DNA
• This is known as
Chargaff’s rule or the
base pairing rule.
HISTORY OF DNA
1953
• Rosalind Franklin
came very close to
solving the DNA
structure
• She made xray
crystallographic
portraits of DNA in
order to try to
determine its 3D
structure.
Source: www.makingthemodernworld.org.uk
HISTORY OF DNA
1953
• Her work was given
without her consent
to a group of scientists
in another laboratory
by her colleague,
Maurice Wilkins.

Source: www.makingthemodernworld.org.uk
HISTORY OF DNA
1953
• James Watson and
Francis Crick made a
model of DNA that
incorporated the
findings of Chargaff,
Franklin and Wilkins.
• Their model fit the
experimental data so
perfectly that it was
almost immediately
accepted. Source: tokresource.org
HISTORY OF DNA
1962

JOHN STEINBECK
• Watson, Crick, and

WATSON
WILKINS

CRICK
Wilkins won the
Nobel Prize for
physiology/
medicine.
• Rosalind Franklin
had died of cancer
in 1956.

Source: achievement.org
HISTORY OF DNA
1962
• The Nobel Prize only
goes to living recipients,
and can only be shared
among three winners.
• Were she alive, do you
think she would have
been included in the
prize?

Source: omniscienceblog.com
DNA Structure
DNA consists of repeating subunits called nucleotides.
These consist of deoxyribose sugar unit, a phosphate
group and a nitrogenous base.
Covalent bonds join the phosphate to the sugar and
base to the sugar.
In DNA there are four different nitrogenous bases:
Adenine (A)
Guanine (G)
Cytosine (C)
Thymine (T)
A and G are called purines, and consist of two rings
joined together. C and T are pyrimidines, and consist
of a single ring.
DNA consists of two chains of nucleotides
joined at the nitrogenous bases by hydrogen
bonds.
The nitrogenous bases follow strict pairing
rules due to their size and the number of
hydrogen bonds they are able to form.
Adenine and Guanine cannot pair up
because they are both purines, which would
be too large to fit into the helix. In addition,
Adenine can only form two bonds whereas Guanine forms three.
As a result, A always bonds with T and C always bonds with G.
The two strands are also anti parallel and twisted into a spiral as this improves the
stability of the molecule.
The purpose of DNA is to instruct the cell which
proteins to manufacture.
Proteins are the reason we have the physical
characteristics we do such as eye colour and
hair type.
Proteins called enzymes also regulate the many
thousands of reactions that take place in each cell
within our bodies and they also form hormones and
antibodies which are vital for normal function.
DNA spends most of its time as a very long (about 3 metres) strand called chromatin, which cannot be
seen under a light microscope. However, just prior to cell division, the chromatin condenses, shortens and
thickens into chromosomes.
In total, we have about 25,000 genes. In humans, these genes
are located on 46 chromosomes, which are arranged as 23 pairs.
You inherited one set of 23 chromosomes from your father and
one set of 23 chromosomes from your mother. At the point of
conception, when the sperm and egg cell united to form the
zygote, those two sets of 23 chromosomes paired up.
Every species of organism on the planet has a specific number of
chromosomes in their nuclei:
Human – 46
Chimpanzee – 48
Shrimp - 254
Of the 23 pairs of chromosomes in each of your cells, 22 pairs are autosomes and one pair are the sex
chromosomes.
Autosomes
Autosome pairs are numbered from 1 to 22 based on their size. The autosome from your mother looks
identical to the autosome from your father and are described as homologous pairs.

Sex Chromosomes
In males, sex chromosomes consist of an X and a Y chromosome.
The X chromosome is larger than the Y and carries far more genes.
In females, the sex chromosomes consist of two homologous
X chromosomes.
Karyotyping
When animals reproduce, they do so by producing gametes – sperm and ova. These gametes contain half
the normal number of chromosomes, so that when the sperm and ova combine at fertilization, the correct
number of chromosomes will be restored.
ie/ Human sperm and ova each contain 23 chromosomes.
Gametes are produced by a method of cell division called meiosis.
Sometimes, meiosis does not go according to plan, and gametes are produced that contain either one too
many or one too few chromosomes. If these gametes end up in the zygote, the newborn will have a
chromosomal mutation.
Chromosomal mutations can be detected by producing a karyotype.
A photograph of the chromosomes is taken, they are stained and then
arranged into their pairs based on size and banding pattern.
Disorders such as Down syndrome (3 copies of chromosome 21) and
Turner’s syndrome (a single copy of the X chromosome) can be detected.
Go to the link below to complete the exercise on karyotyping.

http://www.biology.arizona.edu/human_bio/activities/karyotyping/karyotyping.html
Protein Synthesis
In order to use the DNA code, it needs to be read by
ribosomes in the cytoplasm. Since DNA is too large and
important to leave the nucleus, a copy of one strand
(the template strand) of the DNA double helix is made.
This is called messenger RNA (mRNA).
This process is called transcription.
The RNA differs from DNA in a few ways:
1. The sugar is ribose (instead of deoxyribose)
2. The nitrogen base Thymine is replaced by the
nitrogen base Uracil
3. RNA is single stranded (DNA is double stranded)
It is the RNA which leaves the nucleus and heads
into the cytoplasm to be de-coded so that the
correct protein can be assembled.
Transcription begins when an enzyme called RNA polymerase
unzips the section of DNA that corresponds to the
gene for the particular protein that is being
synthesised – eg the gene for growth hormone.
As soon as the DNA nucleotides are unzipped, they
are unstable and seek their corresponding base pair.
RNA polymerase adds free nucleotides to the exposed
strand according to the base pairing rules, except that it attaches Uracil (U) to the exposed
Adenine nucleotide.
RNA polymerase continues along the exposed strand until it reaches the end of the gene. The
piece of RNA that has been made then detaches from the DNA strand and leaves the nucleus.
The exposed strands of DNA come back together and re-join.
Translation
The mRNA strand is decoded three
bases at a time. Each 3 – base
sequence is called a codon and each
codon represents an amino acid.
Amino acids are the building blocks
of proteins. As each codon is read, by
the ribosome, amino acids are brought
to the mRNA and assembled into the
protein.
There are three codons that do not
represent a specific amino acid:
UAA, UAG and UGA.
If the ribosome reads one of these codons, translation stops. For this reason, these three codons
are called stop codons.
As a codon is read, another molecule
called tRNA (transfer RNA) arrives
at the ribosome, carrying the amino
acid that corresponds to the codon.

At one end of the tRNA molecule, a three –

base sequence called an anti-codon is
located. This anticodon binds with the
mRNA codon.
At the other end of the tRNA molecule, there
is an amino acid binding site.
Once a codon has been read, the ribosome
moves along the mRNA a distance of three
bases, and the next amino acid is brought into line.
When two amino acids are brought together, they
form a strong peptide bond. For this reason, long
chains of amino acids are called polypeptides.
When the second codon has been read, the ribosome
moves along another three bases and a third amino
acid is brought into line.
This allows the first tRNA molecule to leave the
ribosome. It returns to the cytoplasm to pick up
another amino acid.
This third amino acid bonds with the second amino
acid and the chain continues to grow.
Eventually, the ribosome will reach the end of the gene where it will read a STOP codon. Since
there are no amino acids that correspond to the STOP codon, translation stops.
The polypeptide chain leaves the ribosome and the mRNA will be broken down and re-cycled.
http://learn.genetics.utah.edu/content/molecules/transcribe/
Once the polypeptide leaves the ribosome, it travels through the endoplasmic reticulem to the
golgi body where it is modified into a functioning protein.
https://www.youtube.com/watch?v=x1-m71WRBD8

More about Genes

Every cell contains the same amount of DNA, along with the instructions to build every type of
protein used in the body. However, cells generally produce only a small number of proteins.
During a cell’s life cycle, many genes are “switched off”. Only those genes that are “switched on”
will produce protein.
During our development from zygote to newborn baby, genes are switched on and off so that
different tissues develop in the appropriate areas.
An emerging field in genetic called epigenetics suggests that what we expose ourselves to during
our lives can affect the switching off and on of the genes of our offspring.
It has long been believed that the genetic blueprint you inherit cannot be changed; but
epigenetics is showing that this might be wrong.
https://www.youtube.com/watch?v=AvB0q3mg4sQ
Location of Genes
Genes are sections of DNA located on specific chromosomes.
The position of the gene on the chromosome is called its
locus.
Genes that occur on the same chromosome are said to
be linked.

Cell Division
Cells divide so that an organism can grow, repair damaged
tissue or prepare for sexual reproduction.
There are two different types of division – mitosis and meiosis.
Mitosis = growth and repair.
Meiosis = production of gametes.
During both processes, DNA condenses to form chromosomes
and it is the behaviour of the
CELL DIVISION
The Cell Cycle
The cell cycles through
growth, duplication
and division.
It is divided into
several
stages:
Mitosis – the process
of nuclear division.
The final stage of
Mitosis is Cytokinesis,
the division of
cytoplasm.
G1 – Cell growth
S – DNA synthesis (replication).
Interphase
Stages G1, S and G2 are called interphase.
Processes that occur during interphase:
- DNA replication.
- Synthesis of new organelles
- Accumulation of stored energy
Mitosis
Is a continuous process with no breaks between the following four phases:
1. Prophase
DNA becomes visible as long,
thin threads. They shorten and
thicken to become chromosomes.
Each consists of two strands
attached at the centromere.
The nucleus breaks down.

Centrioles begin to move to opposite ends of the cell and spindle formation begins.
2. Metaphase
Chromosomes move to the equator.
Spindle microtubules attach to the
centromeres.

3. Anaphase
Single stranded chromosomes move to
opposite ends of the cell.
4. Telophase
Spindle disappears.
Nuclear membrane re-forms.
Chromosomes begins to unwind.

Cytokinesis
During telophase, the organelles become
evenly distributed between the cells that are
forming.
Animal cells
Constriction of the cytoplasm at the equator
Plant cells
Golgi apparatus forms vesicles
of new cell wall materials.
These collect along the
equator to form the cell plate.
In time, the vesicles join to form
the new cell membranes and cell
walls of the two daughter cells.

Mitosis produces two genetically identical nuclei. Each daughter cell is also
identical to the parent cell from which it arose.
Meiosis
Homologous chromosomes – a pair of chromosomes, one from each parent, that look identical
in terms of banding pattern, are the same size and carry the same genes. They may differ in the
alleles they carry for some genes.
The Phases of Meiosis
Prophase I
DNA supercoils and becomes visible
as chromosomes.
Homologous chromosomes pair up and
chromatids from the maternal and paternal
chromosomes cross over . This allows
genetic material to be exchanged between
the chromosomes.
The nuclear membrane starts to break down and the spindle apparatus begins to form.
Metaphase I
Chromosomes line up in pairs along the equator
Of the cell. Each attaches to a spindle
microtubule at the centromere.
The position of maternal and paternal
chromosomes on each side of the equator is
random, which increases genetic diversity.

Anaphase I
Microtubules contract towards opposite poles of
the cell. This separates homologous pairs and
halves the chromosome number.
The cell has changed from diploid to haploid.
Telophase I
Spindle microtubules break down and a
new nuclear envelope begins to form
around the two new nuclei.
Cytokinesis splits the cell in two, each
containing one of each homologous pair.
At this point, chromosomes are double stranded.

Prophase II
In each of the two daughter cells, new spindle
microtubules start to form.
Chromosomes re-coil.
Nuclear envelope breaks down.
Metaphase II
Individual chromosomes line up along the
equator of the cell.
Chromatids attach to the spindle fibres at the
centromere.

Anaphase II

Sister chromatids separate and are pulled to

opposite ends of the cell by the contracting spindle
microtubules.
Telophase II

Nuclear envelopes form around the four nuclei

and the chromosomes uncoil.
Cytokinesis follow and four new haploid cells
are produced.