What is a cell?

Different types of stem cell

Cells are the basic building blocks of living things. The human body is composed of trillions of cells, all  There are three main types of stem cell:
with their own specialized function. 
o embryonic stem cells
 Cells are the basic structures of all living organisms.
o adult stem cells
 Cells provide structure for the body, take in nutrients from food and carry out
important functions. o induced pluripotent
 Cells group together to form tissues?, which in turn group together to form organs?, such as stem cells
the heart and brain.
Embryonic stem cells
 Our cells contain a number of functional structures called organelles?.
 These organelles carry out tasks such as making proteins?, processing chemicals and  Embryonic stem cells supply
generating energy for the cell. new cells for an embryo? as it grows
 The nucleus? is based at the centre of the cell and is the ‘control room’ for the cell. and develops into a baby.
 The genome? is found within the nucleus.
 These stem cells are said to be
 
pluripotent, which means they
can change into any cell in the
body.

An illustration showing a stem cell giving rise to more stem cells or specialised cells.
Image credit: Genome Research Limited

Adult stem cells

 Adult stem cells supply new cells as an organism grows and to replace cells that get
damaged.
 Adult stem cells are said to be multipotent, which means they can only change into
some cells in the body, not any cell, for example:
Illustration showing the structures of an animal cell. Image credit: Genome Research Limited o Blood (or 'haematopoietic') stem cells can only replace the various types of
cells in the blood.
What is a stem cell?
o Skin (or 'epithelial') stem cells provide the different types of cells that
A stem cell is a cell with the unique ability to develop into specialised cell types in the body. In the future make up our skin and hair.
they may be used to replace cells and tissues that have been damaged or lost due to disease.

What is a stem cell?

 Our body is made up of many different types of cell?. An illustration

showing
 Most cells are specialised to perform particular functions, such as red blood cells? that carry oxygen different types
around our bodies in the blood, but they are unable to divide. of stem cell in
the body.
 Stem cells provide new cells for the body as it grows, and replace specialised cells that are Image credit:
damaged or lost. They have two unique properties that enable them to do this: Genome
Research
o They can divide over and over again to produce new cells. Limited

o As they divide, they can change into the other types of cell that make up the body. 

Induced pluripotent stem cells
 Induced pluripotent stem cells, or ‘iPS cells’, are stem cells that scientists make in the
laboratory.
 ‘Induced’ means that they are made in the lab by taking normal adult cells, like skin or blood
cells, and reprogramming them to become stem cells.
 Just like embryonic stem cells, they are pluripotent so they can develop into any cell type.
 
A scientist here at the Wellcome Genome Campus working on induced pluripotant stem cells.
Image credit: Genome Research Limited
Why are stem cells useful?
 Stem cells have several uses including:
o research – to help us understand the basic biology of how living things
work and what happens in different types of cell during disease.
o therapy – to replace lost or damaged cells that our bodies can’t replace
naturally.
Stem cell research
 Research is looking to better understand the properties of stem cells so that we can:
o understand how our bodies grow and develop
o find ways of using stem cells to replace cells or tissues? that have been
damaged or lost.
 We can use stem cells to study how cells become specialised for specific functions in
the body, and what happens when this process goes wrong in disease.
 If we understand stem cell development, we may be able to replicate this process to
create new cells, tissues and organs?.
 We can grow tissue and organ structures from stem cells, which can then be studied
to find out how they function and how they are affected by different drugs?.
These heart cells were grown from stem cells in a petri dish and can be used to study the beating rhythm of the heart. 
Stem cell therapy
 Cells, tissues and organs can sometimes be permanently damaged or lost by disease,
injury and genetic conditions?.
 Stem cells may be one way of generating new cells that can then be transplanted into
the body to replace those that are damaged or lost.
 Adult stem cells are currently used to treat some conditions, for example:
o Blood stem cells are used to provide a source of healthy blood cells for
people with some blood conditions, such as thalassaemia, and cancer
patients who have lost their own blood stem cells during treatment.
o Skin stem cells can be used to generate new skin for people with severe
burns.
 Age-related macular degeneration (AMD) is an example of a disease where stem
cells could be used as a new form of treatment in the future:
o Some people with age-related macular degeneration lose their sight
because cells in the retina? of the eye called retinal pigment epithelium (RPE)
cells stop working.
o Scientists are using induced pluripotent stem cells to produce new RPE
cells in the lab that can then be put into a patient’s eye to replace the
damaged cells.
An illustration showing how stem cells can be used to produce retinal pigment epithelium (RPE) cells that
can be used to treat patients with age-related macular degeneration (AMD).
Image  credit:  Genome  Research Limited
Stem cells could be used to generate new organs for use in transplants:
o Currently, damaged organs can be replaced by obtaining healthy organs
from a donor, however donated organs may be 'rejected' by the body as the
immune system sees it as something that is foreign.
o Induced pluripotent stem cells generated from the patient themselves could
be used to grow new organs that would have a lower risk of being rejected.
How do you generate induced pluripotent stem cells?
  Signals in the body tell a cell what type of specialised cell it should be by switching What is a chromosome?
some genes? on and some genes off.
Chromosomes are bundles of tightly coiled DNA located within the nucleus of almost every
 To generate induced pluripotent stem cells, scientists re-introduce the signals that normally tell cell in our body. Humans have 23 pairs of chromosomes.
stem cells to stay as stem cells in the early embryo. These switch off any genes that tell the cell
to be specialised, and switch on genes that tell the cell to be a stem cell.

What is a genome?

A genome is the complete set of genetic information in an organism. It provides all of the
information the organism requires to function. In living organisms, the genome is stored in
long molecules of DNA called chromosomes. Small sections of DNA, called genes, code for
the RNA and protein molecules required by the organism. In eukaryotes, each cell's genome is
contained within a membrane-bound structure called the nucleus. Prokaryotes, which contain
no inner membranes, store their genome in a region of the cytoplasm called the nucleoid. The
full range of RNA molecules expressed by a genome is known as its transcriptome, and the
full assortment of proteins produced by the genome is called its proteome.

There are 23 pairs of chromosomes in the human genome. Between 1990 and 2003, all twenty-
three pairs were fully sequenced through an international research undertaking known as the
Human Genome Project. The study and analysis of genomes is called genomics.

A genome is an organism’s complete set of genetic instructions. Each genome contains all of
the information needed to build that organism and allow it to grow and develop. 

Our bodies are made up of millions of cells? (100,000,000,000,000), each with their own
complete set of instructions for making us, like a recipe book for the body. This set of
instructions is known as our genome and is made up of DNA?. Each cell in the body, for
example, a skin cell or a liver cell, contains this same set of instructions:
 The instructions in our genome are made up of DNA.
 Within DNA is a unique chemical code that guides our growth, development and
health.
 This code is determined by the order of the four nucleotide bases that make up DNA,
adenine, cytosine, guanine and thymine, A, C, G and T for short.
 DNA has a twisted structure in the shape of a double helix.
 Single strands of DNA are coiled up into structures called chromosomes?.
 Your chromosomes are located in the nucleus? within each cell.
 Within our chromosomes, sections of DNA are "read" together to form genes?.
 Genes control different characteristics such as eye colour and height.
 All living things have a unique genome?.
 The human genome is made of 3.2 billion bases of DNA but other organisms have
different genome sizes.
If printed out the 3.2 billion letters in your genome would:
 Fill a stack of paperback books 200 feet (61 m) high
 Fill 200 500-page telephone directories
 Take a century to recite, if we recited at one letter per second for 24 hours a day
 Extend 3,000 km (1,864 miles), that's about the distance from London to the Canary
Islands, Washington to Guatemala or from New Delhi to Hanoi. 
Illustration showing how DNA is packaged into a chromosome.
Image credit: Genome Research Limited
 In plant and animal cells, DNA? is tightly packaged into thread-like structures
called chromosomes?. This is in contrast to bacteria? where DNA floats freely around the cell.
 A single length of DNA is wrapped many times around lots of proteins? called histones,
to form structures called nucleosomes.
 These nucleosomes then coil up tightly to create chromatin loops.
 The chromatin loops are then wrapped around each other to make a full
chromosome.
 Each chromosome has two short arms (p arms), two longer arms (q arms), and a
centromere holding it all together at the centre.
 Humans have 23 pairs of chromosomes (46 in total): one set comes from your
mother and one set comes from your father.
 Of these 23 pairs, one pair are sex chromosomes so differ depending on whether you
are male or female (XX for female or XY for male).
 The other 22 pairs are autosomes? (non-sex chromosomes) and look the same for both
males and females.
 The DNA making up each of our chromosomes contains thousands of genes?.
 At the ends of each of our chromosomes are sections of DNA called telomeres?.
Telomeres protect the ends of the chromosomes during DNA replication? by forming a cap,
much like the plastic tip on a shoelace.
What is mitosis?

Mitosis is a process where a single cell divides into two identical daughter cells (cell
division). 

 During mitosis one cell? divides once to form two identical cells.

 The major purpose of mitosis is for growth and to replace worn out cells.
 If not corrected in time, mistakes made during mitosis can result in changes in
the DNA? that can potentially lead to genetic disorders?.
Mitosis is divided into five phases:  

1. Interphase:

 The DNA in the cell is copied in preparation for cell division, this results in two
identical full sets of chromosomes?.
 Outside of the nucleus? are two centrosomes, each containing a pair of centrioles, these
structures are critical for the process of cell division.
 During interphase, microtubules extend from these centrosomes.
2. Prophase: 
Illustration showing the five stages of mitosis.
 The chromosomes condense into X-shaped structures that can be easily seen under a Image credit: Genome Research Limited
microscope.
 Each chromosome is composed of two sister chromatids, containing identical genetic What is meiosis?
information.
Meiosis is a process where a single cell divides twice to produce four cells containing half the
 The chromosomes pair up so that both copies of chromosome 1 are together, both original amount of genetic information. These cells are our sex cells – sperm in males, eggs in
copies of chromosome 2 are together, and so on. females.
 At the end of prophase the membrane around the nucleus in the cell dissolves away
releasing the chromosomes.  During meiosis one cell? divides twice to form four daughter cells.
 The mitotic spindle, consisting of the microtubules and other proteins, extends across  These four daughter cells only have half the number of chromosomes? of the parent cell –
the cell between the centrioles as they move to opposite poles of the cell. they are haploid.
3. Metaphase:  Meiosis produces our sex cells or gametes? (eggs in females and sperm in males).
Meiosis can be divided into nine stages. These are divided between the first time the cell
 The chromosomes line up neatly end-to-end along the centre (equator) of the cell. divides (meiosis I) and the second time it divides (meiosis II):
 The centrioles are now at opposite poles of the cell with the mitotic spindle fibres
extending from them. Meiosis I
 The mitotic spindle fibres attach to each of the sister chromatids.
4. Anaphase: 1. Interphase:

 The sister chromatids are then pulled apart by the mitotic spindle which pulls one
chromatid to one pole and the other chromatid to the opposite pole.
5. Telophase:
2. Prophase I:
 At each pole of the cell a full set of chromosomes gather together.
 A membrane forms around each set of chromosomes to create two new nuclei.
 The single cell then pinches in the middle to form two separate daughter cells each
containing a full set of chromosomes within a nucleus. This process is known as
cytokinesis.
 The DNA in the cell is copied resulting in two identical full sets of chromosomes.
 Outside of the nucleus? are two centrosomes, each containing a pair of centrioles, these
structures are critical for the process of cell division?.
 During interphase, microtubules extend from these centrosomes.
 The copied chromosomes condense into X-shaped structures that can be easily seen
under a microscope.
 Each chromosome is composed of two sister chromatids containing identical genetic
information.
 The chromosomes pair up so that both copies of chromosome 1 are together, both
copies of chromosome 2 are together, and so on.
  The pairs of chromosomes may then exchange bits of DNA in a process called  The sister chromatids are then pulled to opposite poles due to the action of the
recombination or crossing over. meiotic spindle.
 At the end of Prophase I the membrane around the nucleus in the cell dissolves  The separated chromatids are now individual chromosomes.
away, releasing the chromosomes. 9. Telophase II and cytokinesis:
 The meiotic spindle, consisting of microtubules and other proteins, extends across
the cell between the centrioles.  The chromosomes complete their move to the opposite poles of the cell.
3. Metaphase I:  At each pole of the cell a full set of chromosomes gather together.
 A membrane forms around each set of chromosomes to create two new cell nuclei.
 The chromosome pairs line up next to each other along the centre (equator) of the  This is the last phase of meiosis, however cell division is not complete without
cell. another round of cytokinesis.
 The centrioles are now at opposites poles of the cell with the meiotic spindles  Once cytokinesis is complete there are four granddaughter cells, each with half a set
extending from them. of chromosomes (haploid):
 The meiotic spindle fibres attach to one chromosome of each pair. o in males, these four cells are all sperm cells
4. Anaphase I: o in females, one of the cells is an egg cell while the other three are polar
bodies (small cells that do not develop into eggs).
 The pair of chromosomes are then pulled apart by the meiotic spindle, which pulls
one chromosome to one pole of the cell and the other chromosome to the opposite
pole. Illustration
 In meiosis I the sister chromatids stay together. This is different to what happens in showing
mitosis and meiosis II. the nine stages
of meiosis.
5. Telophase I and cytokinesis:
Image
credit:
 The chromosomes complete their move to the opposite poles of the cell.
Genome
 At each pole of the cell a full set of chromosomes gather together. Research
 A membrane forms around each set of chromosomes to create two new nuclei. Limited
 The single cell then pinches in the middle to form two separate daughter cells each
containing a full set of chromosomes within a nucleus. This process is known as
cytokinesis.
Meiosis II

6. Prophase II:

 Now there are two daughter cells, each with 23 chromosomes (23 pairs of
chromatids).
 In each of the two daughter cells the chromosomes condense again into visible X-
shaped structures that can be easily seen under a microscope.
 The membrane around the nucleus in each daughter cell dissolves away releasing the
chromosomes.
 The centrioles duplicate.
 The meiotic spindle forms again.
7. Metaphase II:

 In each of the two daughter cells the chromosomes (pair of sister chromatids) line up
end-to-end along the equator of the cell.
 The centrioles are now at opposites poles in each of the daughter cells.
 Meiotic spindle fibres at each pole of the cell attach to each of the sister chromatids.

8. Anaphase II:
Mitosis versus meiosis  Consists of interphase, prophase, metaphase, anaphase and telophase (but
twice!)
Cells divide and reproduce in two ways, mitosis and meiosis. Mitosis results in two identical
daughter cells, whereas meiosis results in four sex cells. Below we highlight the keys  In metaphase II individual chromosomes (pairs of chromatids) line up along
differences and similarities between the two types of cell division. the equator.
 During anaphase II the sister chromatids are separated to opposite poles.
Differences
 Ends with cytokinesis.
Mitosis
 
 Involves one cell division?
 Results in two daughter cells What is a telomere?
 Results in diploid? daughter cells? (chromosome? number remains the same as parent cell) Telomeres are distinctive structures found at the ends of our chromosomes. They
 Daughter cells are genetically identical consist of the same short DNA sequence repeated over and over again.
 Occurs in all organisms except viruses  Telomeres are sections of DNA? found at the ends of each of our chromosomes?.
 Creates all body cells (somatic?) apart from the germ cells? (eggs and sperm)  They consist of the same sequence of bases ?repeated over and over.
 Prophase is much shorter  In humans the telomere sequence is TTAGGG.
 No recombination/crossing over occurs in prophase.   This sequence is usually repeated about 3,000 times and can reach up to
 In metaphase individual chromosomes (pairs of chromatids) line up along the 15,000 base pairs? in length.
equator.
 During anaphase the sister chromatids are separated to opposite poles.
 
Meiosis
 Involves two successive cell divisions
 Results in four daughter cells
 Results in haploid? daughter cells (chromosome number is halved from the parent cell)
 Daughter cells are genetically different
 Occurs only in animals, plants and fungi
 Creates germ cells (eggs and sperm) only
 
 Prophase I takes much longer
 Involves recombination/crossing over of chromosomes in prophase I
 In metaphase I pairs of chromosomes line up along the equator.
 During anaphase I the sister chromatids move together to the same pole. Illustration showing  the position of telomeres at the end of our chromosomes.
 During anaphase II the sister chromatids are separated to opposite poles. Image credit: Genome Research Limited
Similarities
What do telomeres do?
Mitosis
Telomeres serve three major purposes:
 Diploid parent cell
 Consists of interphase, prophase, metaphase, anaphase and telophase
1. They help to organise each of our 46 chromosomes in the nucleus? (control centre) of
our cells?.
 In metaphase individual chromosomes (pairs of chromatids) line up along the
2. They protect the ends of our chromosomes by forming a cap, much like the plastic
equator.
tip on shoelaces. If the telomeres were not there, our chromosomes may end up
 During anaphase the sister chromatids are separated to opposite poles.
sticking to other chromosomes.
 Ends with cytokinesis.
3. They allow the chromosome to be replicated properly during cell division?:
o Every time a cell? carries out DNA replication? the chromosomes are shortened by
about 25-200 bases (A, C, G, or T) per replication.

Meiosis o However, because the ends are protected by telomeres, the only part of the
chromosome that is lost, is the telomere, and the DNA is left undamaged.
 Diploid parent cell o Without telomeres, important DNA would be lost every time a cell divides
(usually about 50 to 70 times).
 o This would eventually lead to the loss of entire genes?.
What happens to telomeres as we age?
 Each time a cell divides, 25-200 bases are lost from the ends of the telomeres on
each chromosome.
 Two main factors contribute to telomere shortening during cell division?:
o The “end replication problem” during DNA replication: Accounts for the
loss of about 20 base pairs? per cell division.
o Oxidative stress: Accounts for the loss of between 50-100 base pairs per
cell division. The amount of oxidative stress in the body is thought to be
affected by lifestyle factors such as diet, smoking and stress.   ageing.
 When the telomere becomes too short, the chromosome reaches a ‘critical length’
and can no longer be replicated.
 This ’critical length’ triggers the cell to die by a process called apoptosis?, also known as
programmed cell death.
How is telomere length maintained?
 Telomerase?
 is an enzyme? that adds the TTAGGG telomere sequence to the ends of
chromosomes.
 Telomerase is only found in very low concentrations in our somatic cells?. Because these
cells do not regularly use telomerase they age leading to a reduction in normal
function.
 The result of ageing cells, is an ageing body.
 Telomerase is found in high levels in germline? cells (egg and sperm) and stem cells. In
these cells telomere length is maintained after DNA replication and the cells do not
show signs of ageing.  
 Telomerase is also found in high levels in cancer? cells. This enables cancer cells to be
immortal and continue replicating themselves. If telomerase activity was switched
off in cancer cells, their telomeres would shorten until they reached a ‘critical
length’. This would, prevent the cancer cells from dividing uncontrollably to form
tumours.
 The action of telomerase allows cells to keep multiplying and avoid ageing.  continue dividing uncontrolled.
Telomere caps 
Image credit: U.S. Department of Energy Human Genome Program. Licensed under Public
domain via Wikimedia Commons.
Use of telomeres in medicine
Research on telomeres and the role of telomerase could uncover valuable information to combat ageing and
fight cancer.
 The medical relevance of telomeres is uncertain.
 Human cells cultured in the lab have been observed to stop dividing when telomerase
is inactivated, because the length of telomeres is not maintained after cell division.
 The cells then enter a state of inactivity called senescence. However, once telomerase
is reactivated, the cells are able to continue dividing.
 If telomerase can be used to help human cells live forever, it may also be possible to
mass produce cells for transplantation. These cells could help to treat a range of
conditions, from severe burns to diabetes?.
Telomeres and ageing
 Mice models lacking the enzyme telomerase were found to show signs of premature
 However, it is not certain whether telomere shortening is responsible for ageing in
humans or whether it is just a sign of ageing, like grey hair.
 There are several indications that telomere length is a good predictor of lifespan.
 Newborn babies tend to have telomeres ranging in length from around 8,000 to
13,000 base pairs. It has been observed that this number tends to decline by around
20-40 base pairs each year. So, by the time someone is 40 years old they could have
lost up to 1,600 base pairs from their telomeres.
 However, looking at the bigger picture, the overall shortening of our telomeres is not
significant, even in very old people.
 Cells that divide rapidly, such as germ cells? and stem cells?, are among the few cell types in
our bodies containing active telomerase.
 This means that in these cells telomere length is maintained or even lengthened over
time.
However, there are a number of other factors that have an effect on the length of our
telomeres that all need to be considered, such as smoking and obesity.
Telomeres and cancer
 Telomeres and telomerase present a number of potential targets for the design of new
cancer therapies.
 Cancer cells contain active telomerase to enable them to become ‘immortal’ and
 Cancer is a disease characterised by the rapid and uncontrolled division of cells.
 Without telomerase activity, these cells would become inactive, stop dividing and
eventually die.
 Drugs that inhibit telomerase activity, or kill telomerase-producing cells, may
potentially stop and kill cancer cells in their tracks.
 However, blocking telomerase activity could affect cells where telomerase activity is
important, such as sperm, eggs, platelets and immune cells.
 Disrupting telomerase in these cell types could affect fertility, wound healing and the
ability to fight infections.
 However, telomerase activity in somatic cells is very low. These cells would
therefore be largely unaffected by anti-telomerase therapy.
 Scientists hope this would result in fewer side effects for the patient, compared to
current cancer therapies.
 Telomere biology is incredibly important in human cancer and scientists are working
hard to understand the best way to exploit their knowledge of it to advance the
treatment of cancer.
The Chromosome Theory of Inheritance
In the early 1900s, the work of Gregor Mendel was rediscovered and his ideas about
inheritance began to be properly appreciated.  As a result, a flood of research began to try and
prove or disprove his theories of how physical characteristics are inherited from one generation
to the next.
In the middle of the nineteenth century, Walther Flemming, an anatomist from Germany,
discovered a fibrous structure within the nucleus of cells. He named this structure ‘chromatin’,
but what he had actually discovered is what we now know as chromosomes?. By observing this
chromatin, Walther correctly worked out how chromosomes separate during cell division, also
known as mitosis?.  is why members of the same family tend to have similar characteristics.
“Walter Sutton and Theodor Boveri first presented the idea that the genetic material passed
down from parent to child is within the chromosomes.
The chromosome theory of inheritance was developed primarily by Walter Sutton and Theodor
Boveri. They first presented the idea that the genetic material passed down from parent to child
is within the chromosomes. Their work helped explain the inheritance? patterns that Gregor Mendel
had observed over a century before.
Interestingly, Walter Sutton and Theodor Boveri were actually working independently during
the early 1900s. Walter studied grasshopper chromosomes, while Theodor studied roundworm
embryos.  However, their work came together in a perfect union, along with the findings of a
few other scientists, to form the chromosome theory of inheritance.  the first cell of the new organism in a process called fertilisation.
Walter Sutton (left) and Theodor Boveri (right) worked independently to come up with the chromosome
theory of inheritance.
Image credit: Wikimedia Commons.
Building on Walther Flemming’s findings with chromatin, German embryologist Theodor
Boveri provided the first evidence that the chromosomes within egg and sperm cells are linked
to inherited characteristics. From his studies of the roundworm embryo he also worked out that
the number of chromosomes is lower in egg and sperm cells compared to other body cells.
American graduate, Walter Sutton, expanded on Theodor’s observation through his work with
the grasshopper. He found it was possible to distinguish individual chromosomes
undergoing meiosis? in the testes of the grasshopper and, through this, he correctly identified
the sex chromosome?. In the closing statement of his 1902 paper he summed up the chromosomal
theory of inheritance based around these principles:
 Chromosomes contain the genetic material.
 Chromosomes are passed along from parent to offspring.
 Chromosomes are found in pairs in the nucleus of most cells (during meiosis these
pairs separate to form daughter cells).
 During the formation of sperm and eggs cells in men and women, respectively,
chromosomes separate.
 Each parent contributes one set of chromosomes to its offspring.
What is inheritance?
Inheritance is the process by which genetic information is passed on from parent to child. This
 
 We actually have two genomes? each
 We get one copy of our genome from each of our parents
 Inheritance describes how genetic material is passed on from parent to child.
How is genetic material inherited?
 Most of our cells contain two sets of 23 chromosomes? (they are diploid).
 An exception to this rule are the sex cells (egg and sperm), also known as gametes?,
which only have one set of chromosomes each (they are haploid).
 However, in sexual reproduction the sperm cell combines with the egg cell to form
 This cell (the fertilised egg) has two sets of 23 chromosomes (diploid) and the
complete set of instructions needed to make more cells, and eventually a whole
person.
 Each of the cells in the new person contains genetic material from the two parents.
 This passing down of genetic material is evident if you examine the characteristics of
members of the same family, from average height to hair and eye colour to nose and
ear shape, as they are usually similar.
 If there is a mutation ?in the genetic material, this can also be passed on from parent to
child
 This is why diseases can run in families. 
How is sex determined?
 The sex of an individual is determined by the sex chromosomes called the X
chromosome and the Y chromosome.
 Females have two X chromosomes (XX).
 Males have an X chromosome and a Y chromosome (XY).
 Female gametes (eggs) therefore always carry an X chromosome.
 Male gametes (sperm) can carry either an X or a Y.
 When an egg joins with a sperm containing an X chromosome, the result is a girl.
 When an egg joins with a sperm containing a Y chromosome, the result is a boy.
What is a genotype?
 The genotype is a description of the unique genetic makeup of an individual. It can
be used to describe an entire genome or just an individual gene and its alleles?.
 The genotype of an individual influences their phenotype?.
 For example, if we are talking about the genotype for eye colour we may say an
individual has one brown eye allele (B) and one blue eye allele (b).
 As a result, the individuals phenotype will be brown eyes.
  This is because the allele for brown eyes is dominant?, while the allele for blue eyes
is recessive? (see image below).
Illustration to show the inheritance of dominant and recessive alleles for eye colour.
Image credit: Genome Research Limited
What is a phenotype?
 The phenotype is a description of the physical characteristics of an organism. For
example, if we are talking about eye colour the phenotype of an individual may mean
blue, brown or green eyes.
 Most phenotypes are influenced by an individual’s genotype, although environment
can also play a role (nature versus nurture).  
What is Mendelian inheritance?
 The simplest form of inheritance? was uncovered from the work of an Austrian monk
called Gregor Mendel in 1865.
 From years of experiments using the common pea plant, Gregor Mendel was able to
describe the way in which genetic characteristics are passed down from generation to
generation.
 Gregor used peas in his experiments primarily because he could easily control their
fertilisation, by transferring pollen? from plant to plant with a tiny paintbrush.
 Sometimes he transferred pollen to and from flowers on the same plant (self-
fertilisation) or from another plant’s flowers (cross fertilisation).
 In one experiment he cross fertilised smooth, yellow pea plants with wrinkly, green
peas:
o Every single pea resulting from this first cross, the first generation (F1),
was smooth and yellow.
o However, when two smooth, yellow peas from this first generation were
crossed to produce a second generation (F2), the result was 75 percent
smooth, yellow peas and 25 percent wrinkly, green peas (3:1).
o This outcome shows that the genes for smooth, yellow peas are dominant
while the genes for wrinkly, green peas are recessive.
 The results from this and further experiments led Gregor Mendel to come up with
three key principles of inheritance:
1. The inheritance of each trait is determined by ‘factors’ (now known as genes) that
are passed onto descendants.
2.  Individuals inherit one ‘factor’ from each parent for each trait.
3. A trait may not show up in an individual but can still be passed onto the next
generation.
 Genetic traits that follow these principles of inheritance are called Mendelian.
Gregor Mendel 
Image credit: Mendel's Principles of Heredity: A
Defence by William Bateson
What is a gene?
Genes are small sections of DNA within the genome that code for proteins. They contain the
instructions for our individual characteristics – like eye and hair colour. 
A gene is a small section of DNA? that contains the instructions for a specific molecule,
usually a protein?.
 The purpose of genes? is to store information.
 Each gene contains the information required to build specific proteins needed in an
organism.
 The human genome? contains 20,687 protein-coding genes.
 Genes come in different forms, called alleles?. 
 In humans, alleles of particular genes come in pairs, one on each chromosome? (we have
23 pairs of chromosomes). If the alleles of a particular gene are the same, the
organism is described as homozygous? for that gene. If they are different the organism is
described as heterozygous? for that gene.
 An individual’s phenotype? is determined by the combination of alleles they have.
 For example, for a gene that determines eye colour there may be several different
alleles. One allele may result in blue eyes, while another might result in brown eyes.
The final colour of the individual’s eyes will depend on which alleles they have and
how they interact.
 The characteristic associated with a certain allele can sometimes be dominant ?or recessive?.
What is genetic variation?
Genetic variation is a term used to describe the variation in the DNA sequence in each of our
genomes. Genetic variation is what makes us all unique, whether in terms of hair colour, skin
colour or even the shape of our faces. 
 Individuals of a species have similar characteristics but they are rarely identical, the
difference between them is called variation.
 Genetic variation is a result of subtle differences in our DNA?.
 Single nucleotide polymorphisms?
 (SNPs, pronounced ‘snips’) are the most common type of
genetic variation amongst people.
 Each single nucleotide polymorphism represents a difference in a single DNA base?,
A, C, G or T, in a person’s DNA. On average they occur once in every 300 bases and
are often found in the DNA between genes?.
 Genetic variation results in different forms, or alleles?, of genes. For example, if we
look at eye colour, people with blue eyes have one allele of the gene for eye colour,
whereas people with brown eyes will have a different allele of the gene.
 Eye colour, skin tone and face shape are all determined by our genes so any variation
that occurs will be due to the genes inherited? from our parents. Illustration to show the inheritance of dominant and recessive alleles for eye colour.
 In contrast, although weight is partly influenced by our genetics?, it is strongly Image credit: Genome Research Limited
influenced by our environment. For example, how much we eat and how often we
exercise.  What are sex-linked genes?
 Genetic variation can also explain some differences in disease susceptibility and how  Some genes are found on the sex chromosome?, X.
people react to drugs?.  These genes are inherited with the X chromosome (from the mother if it is a boy or
 Genetic variation is important in evolution?. Evolution relies on genetic variation that is from either mother or father if it is a girl).
passed down from one generation to the next. Favourable characteristics are  Females have two X chromosomes (XX), while males have one X chromosome and
‘selected’ for, survive and are passed on. This is known as natural selection?.  one Y chromosome (XY).
 This means females have two alleles for X-linked genes while males only have one.
What are dominant and recessive alleles?  Some genetic diseases, are caused by sex linked genes, for example haemophilia?.
Different versions of a gene are called alleles.  Alleles are described as either dominant or  The allele for haemophilia is recessive so two copies are needed for a female to have
recessive depending on their associated traits.  the disease
 Since human cells carry two copies of each chromosome? they have two versions of  However, because males only have one X chromosome, they only need one copy of
each gene?. These different versions of a gene are called alleles?. the haemophilia allele to have the disease.
 Alleles can be either dominant? or recessive?.  This means haemophilia is much more common in males than in females.
 Dominant alleles show their effect even if the individual only has one copy of the For example:
allele (also known as being heterozygous?). For example, the allele for brown eyes is Functioning allele = H
dominant, therefore you only need one copy of the 'brown eye' allele to have brown Haemophilia allele = h
eyes (although, with two copies you will still have brown eyes). XH XH = healthy female
 If both alleles are dominant, it is called codominance?. The resulting characteristic is due XH Xh = carrier? female
to both alleles being expressed equally. An example of this is the blood group AB Xh Xh = haemophilia female
which is the result of codominance of the A and B dominant alleles.  XH Y = healthy male
 Recessive alleles only show their effect if the individual has two copies of the allele Xh Y = haemophilia male 
(also known as being homozygous?). For example, the allele for blue eyes is recessive,
therefore to have blue eyes you need to have two copies of the 'blue eye' allele.  What is DNA?
DNA or deoxyribonucleic acid is a long molecule that contains our unique genetic code. Like
a recipe book it holds the instructions for making all the proteins in our bodies.  
 Your genome? is made of a chemical called deoxyribonucleic acid, or DNA for short.
 DNA contains four basic building blocks or ‘bases?’: adenine? (A), cytosine? (C), guanine? (G)
and thymine? (T).
 The order, or sequence, of these bases form the instructions in the genome.
 DNA is a two-stranded molecule.
  DNA has a unique ‘double helix’ shape, like a twisted ladder.
The Molecule of Life  
The molecule now known as DNA was first identified in the 1860s by a Swiss chemist called
Johann Friedrich Miescher. Johann set out to research the key components of white blood cells?,
part of our body’s immune system. The main source of these cells? was pus-coated bandages
collected from a nearby medical clinic.
“Johann called this mysterious substance ‘nuclein’. Unbeknown to him, Johann had
discovered the molecular basis of all life – DNA.
Johann carried out experiments using salt
solutions to understand more about what
makes up white blood cells. He noticed
that, when he added acid to a solution of
the cells, a substance separated from the
solution. This substance then dissolved
again when an alkali was added. When
investigating this substance he realised
that it had unexpected properties different
to those of the other proteins? he was familiar
with. Johann called this mysterious
substance ‘nuclein’, because he believed
it had come from the cell nucleus?.
Unbeknown to him, Johann had
An illustration to show the double helix structure of DNA. discovered the molecular basis of all life –
Image credit: Genome Research Limited DNA. He then set about finding ways to
 Each strand is composed of long sequences of the four bases, A, C, G and T. extract it in its pure form. 
 The bases on one strand of the DNA molecule pair together with complementary? bases on Swiss chemist, Friedrich Miescher.
the opposite strand of DNA to form the ‘rungs’ of the DNA ‘ladder’. Image credit: Wikimedia Commons
 The bases always pair together in the same way, A with T, C with G.
 Each base pair is joined together by hydrogen bonds?. Johann was convinced of the importance of nuclein and came very close to uncovering its
 Each strand of DNA has a beginning and an end, called 5’ (five prime) and 3’ (three elusive role, despite the simple tools and methods available to him. However, he lacked the
prime) respectively. skills to communicate and promote what he had found to the wider scientific community. Ever
 The two strands run in the opposite direction (antiparallel) to each other so that one the perfectionist, he hesitated for long periods of time between experiments before he
runs 5’ to 3’ and one runs 3’ to 5’, they are called the sense strand and the antisense published his results in 1874. Before then he primarily discussed his findings in private letters
strand, respectively. to his friends. As a result, it was many decades before Johann Friedrich Miescher’s discovery
 The strands are separated during DNA replication?. was fully appreciated by the scientific
community.
 This double helix structure was first discovered by Francis Crick and James Watson
with the help of Rosalind Franklin and Maurice Wilkins. For many years, scientists continued to believe
 The human genome is made of 3.2 billion bases of DNA but other organisms have that proteins were the molecules that held all of
different genome sizes. our genetic material. They believed that nuclein
simply wasn’t complex enough to contain all of
the information needed to make up a genome.
Surely, one type of molecule could not account
Discovery of DNA for all the variation seen within species?
How was DNA first discovered and who discovered it?
It is a common misconception that James Watson and Francis Crick discovered DNA? in the
1950s. In reality, DNA was discovered decades before. It was by following the work of the
The four building blocks of DNA
pioneers before them that James and Francis were able to come to their ground-breaking
conclusion about the structure of DNA in 1953.
The story of the discovery of DNA begins in the 1800s…
  Albrecht Kossel was a German biochemist who made great progress in 2. He then injected heat-killed S bacteria along with living R bacteria. The mice died.
understanding the basic building blocks of nuclein.   3. After studying the blood of these mice he was surprised to find living S bacteria in it,
 In 1881 Albrecht identified nuclein as a nucleic acid and provided its present somehow the rough R bacteria had transformed into smooth S bacteria.
chemical name, deoxyribonucleic acid (DNA). He also isolated the five nucleotide? bases 4. He then came to the conclusion that there was a ‘transforming principle’ responsible
that are the building blocks of DNA and RNA?: adenine (A), cytosine (C), guanine (G), for this.
thymine (T) and uracil (U). But what exactly was it? Was it the proteins in the bacteria, the sugar coat on the S bacteria,
the immune system of the mouse or the nucleic acids RNA? and DNA?
German biochemist, Albrecht Kossel. Enter Oswald Avery and his colleagues. Working in test tubes, they used detergent to break
Image credit: Wikimedia Commons. open the heat-killed S cells to separate out the different components: 

KEY FACT Albrecht Kossel isolated the five

nucleotide bases that are the building blocks of
DNA and RNA: adenine, cytosine, guanine,
thymine and uracil.

They then destroyed the components one by one to identify which component was the
 This work was rewarded in 1910 when he received the Nobel Prize in Physiology or
‘transforming principle’. The team published their results in 1944. 
Medicine. 

Revealing DNA as the molecule of life 1. First they combined the heat-killed S bacteria with an enzyme? that broke down the
How was DNA discovered to be the carrier of genetic information? smooth sugar coat. They then mixed the sugar-coatless S bacteria with the R bacteria
“Scientists initially thought that DNA was too simple a molecule to be able to carry genetic and found that the R bacteria still transformed into S bacteria. So, the ‘transforming
information. principle’ was not in the sugar coat.
For the first half of the 20th century, scientists continued to believe that
the proteins? in chromosomes? formed the basis of the genetic information that was passed from 2. Next they added protein-digesting enzymes to destroy all of the protein in the
generation to generation. To them, DNA? was too simple a molecule to be able to carry that sort bacteria, and yet again when mixed with R bacteria, the R transformed into S.  So the
of complex information and proteins showed much more variation. ‘transforming principle’ clearly wasn’t a protein either.
However, a series of experiments conducted by various groups of scientists started to reveal
that in fact it was DNA, not protein, that carries the genetic information. 3. Next they isolated the nucleic acids, DNA and RNA, using alcohol.They then
Avery-Macleod-McCarty experiment destroyed the RNA using the RNase enzyme, leaving just the DNA behind. They
In 1944, Oswald Avery, Colin MacLeod and Maclyn McCarty helped demonstrate the role of mixed it with the R bacteria, and transformation from R to S still occurred. So, it
DNA as the carrier of genetic information by working with the bacterium? that wasn’t RNA.
causes pneumonia?, Streptococcus? pneumoniae.
“Frederick Griffith identified the ‘transforming principle’.
4. Finally, they destroyed the DNA in the solution using DNase, mixed it with the R
However, their work was given a head start by a British bacteriologist called Frederick
bacteria, and no transformation occurred, the R bacteria remained rough. So, the
Griffith, who identified something called the ‘transforming principle’.
‘transforming principle’ must be DNA! 
Frederick studied two strains of the Streptococcus pneumoniae bacteria. One, called the S
strain, had smooth walls and was fatal when injected into mice. The second strain, R, had
rough walls and was not fatal when injected into mice.  The S strain was smooth due to a coat
made out of sugars that helped protect it from the mouse immune system. The rough R bacteria
were rough because it did not have a sugar coat, and so was not protected from the mouse
immune system.
Frederick carried out a series of experiments to investigate the strains further.

1. First he killed S bacteria with heat and injected them into the mice. The mice
survived.
 Image credit: Genome Research Limited

Chargaff and his ‘rules’

“Erwin Chargaff helped pave the way to understanding the three-dimensional structure of the
DNA molecule.

The results of experiments by an Austrian scientist Erwin Chargaff helped pave the way to
understanding the three-dimensional structure of the DNA molecule.
Erwin set out to investigate if there were any key differences between the DNA of different
species. Following this he came to two conclusions, which became known as ‘Chargaff’s
rules’:
1. In DNA, regardless of which organism it comes from, the amount of adenine (A) is
usually the same as the amount of thymine (T), and the amount of guanine (G) is
usually the same as the amount of cytosine (C).
2. The composition of DNA varies between different species such that the amount of
each base is different. This diversity in the composition of DNA made it a much
more credible candidate for the genetic material than protein.
Image credit: Genome Research Limited Erwin Chargaff’s rules were a crucial step in understanding the structure of DNA. In 1952, he
met with James Watson and Francis Crick in Cambridge and discussed his findings with them.
The Hershey-Chase experiments
Although not the most cordial of encounters, Chargaff’s rules did help James and Francis to
KEY FACT The T2 virus infects the bacterium Escherichia coli. The only way it can replicate explain the three-dimensional structure of the DNA. 
is by infecting a cell.

In 1952, experiments by Alfred Hershey and Martha Chase further supported the findings from
the work of Avery, Macleod and McCarty. Hershey and Chase used a virus? called T2 to
investigate if the genetic information was passed on via DNA or proteins. Although T2 is made
up of only a shred of DNA and a scrap of protein, the virus can hijack bacterial cells to make
more copies of itself. Scientists knew that the instructions for making new viruses must
therefore have been carried in the DNA or protein, but they didn't know which.

When Hershey and Chase added a radioactive? label to the DNA of the original T2 virus, they
found that the viruses produced were also radioactive. However, when they repeated the
experiment labelling the protein rather than the DNA of the original virus, they found that the
viruses produced were not radioactive.

Hershey and Chase concluded that DNA carried the instructions to make new viruses, which Erwin Chargaff
was passed on to subsequent generations.  Image credit: Columbia University Medical Center
Unravelling the double helix
The discovery of the structure of DNA by James Watson and Francis Crick in 1953 is one of
the most famous scientific discoveries of all time.  James and Francis suggested that each 'rung' of the DNA helix was composed of a pair
The function of DNA? depends to a large extent on its structure. The three-dimensional structure
of DNA was first proposed by James Watson and Francis Crick in 1953. It is one of the most
famous scientific discoveries of all time. 
KEY FACT X-ray diffraction of DNA crystals results in a cross shape on the X-ray film,
which is typical of a molecule with a helix shape.
James and Francis used evidence shared by others, particularly Rosalind Franklin and Maurice
Wilkins, to determine the shape of DNA. Rosalind worked with Maurice at King's College
London. She beamed X-rays through crystals of the DNA molecule and then used
photographic film to record where the scattered X-rays fell. The shadows on the film were then
used to work out where the dense molecules lie in the DNA. This technique is called X-ray
diffraction. The DNA crystals resulted in a cross shape on the X-ray film which is typical of a
molecule with a helix shape. The resulting X-ray was named Photograph 51
and Maurice shared it with James and Francis. 
Photograph 51, the X-ray image produced by Rosalind Franklin and her PhD student Raymond Gosling.
The cross pattern visible on the X-ray highlights the helical structure of DNA.
Image credit: Wellcome Images
“In 1953 James Watson and Francis Crick published their theory that DNA must be shaped
like a double helix.
In 1953 James Watson and Francis Crick published their theory that DNA must be shaped like
a double helix. A double helix resembles a twisted ladder. Each 'upright' pole of the ladder is
formed from a backbone of alternating sugar and phosphate groups. Each DNA base? (adenine,
cytosine, guanine, thymine) is attached to the backbone and these bases form the rungs. There
are ten 'rungs' for each complete twist in the DNA helix.
Template from Francis Crick and James Watson’s molecular model of DNA from  1953.
“James and Francis suggested that each 'rung' of the DNA helix was composed of a pair of
bases.
of bases, joined by hydrogen bonds?. According to Erwin Chargaff’s rules, A would always form
hydrogen bonds with T, and C with G.
Illustration to show the structure of the DNA double helix.
Image credit: Genome Research Limited.
From structure to function
The concept that DNA was made of a sequence of paired bases along a sugar-phosphate
backbone allowed James Watson and Francis Crick to draw two important conclusions:
KEY FACT The order of bases on each strand makes up the digital code that carries the
instructions for life.
1. The two strands of DNA provide a simple mechanism for copying the molecule. If
separated, each strand provides a template for creating the other strand. By
separating the double helix in this way two identical 'daughter' molecules can be
created.
2. The order, or sequence, of bases on each strand makes up the digital code that carries
the instructions for life. If we can understand the code, we are closer to
understanding how cells? work.
Decrypting the code of life
“One big question remained unanswered. How do you get from a strand of DNA to a protein?
Even following the huge breakthrough of Francis Crick and James Watson, one big question
remained unanswered. How do you get from a strand of DNA to a protein??
Many scientists set to the challenge, but three in particular, Marshall Warren Nirenberg, Har
Gobind Khorana and Robert William Holley, were the first to discover how the four bases of
DNA could be translated into the 20 building blocks of proteins, also known as amino acids?.
To do this, they constructed a very simple strand of RNA?, composed of a strand of only one base
repeated over and over; in this case it was the base uracil?, or U. In the lab, this led to the
production of a protein made up of just one type of amino acid, the amino acid phenylalanine.
By this simple experiment, in 1961, they had cracked the first letter of the code, a strand of Us
translates into a strand of phenylalanine. They could then continue the experiment, but using
the other bases, to find out the other letters of the code.
KEY FACT Each codon specifies an amino acid which is added to the protein during
synthesis.
Eventually they identified that the letters in DNA are read in blocks of three called a ‘codon’.
Each codon specifies an amino acid which is added to the protein during synthesis.
In 1968, the three scientists were rewarded for their work with the Nobel Prize in Physiology
or Medicine.
Marshall Warren Nirenberg celebrating his Nobel Prize with champagne in a beaker.
On the shoulders of giants…
There is no doubt James Watson and Francis Crick played a fundamental role in defining the
structure and function of DNA. However, it is important to remember that this discovery was
dependant on many other scientists before them. Miescher, Hershey and Chase, Chargaff,
Wilkins and Franklin, and all the others mentioned here all deserve to be acknowledged for
their work in helping to unravel the fundamental role of DNA in biology. Their research has
provided the foundation on which the science of genomics? is built and enabled the great strides
being made today in our understanding of genetics?.
What is DNA replication?
DNA replication is the process by which DNA makes a copy of itself during cell division.  exonuclease strips away the primer(s). The gaps where the primer(s) were are then
1. The first step in DNA replication is to ‘unzip’ the double helix structure of
the DNA? molecule.
2. This is carried out by an enzyme? called helicase which breaks the hydrogen bonds? holding
the complementary? bases? of DNA together (A with T, C with G).
3. The separation of the two single strands of DNA creates a ‘Y’ shape called a
replication ‘fork’. The two separated strands will act as templates for making the
new strands of DNA.
4. One of the strands is oriented in the 3’ to 5’ direction (towards the replication fork),
this is the leading strand?. The other strand is oriented in the 5’ to 3’ direction (away from
the replication fork), this is the lagging strand?. As a result of their different orientations,
the two strands are replicated differently:
An illustration to show replication of the leading and lagging strands of DNA.
Image credit: Genome Research Limited
Leading Strand:
 A short piece of RNA ?called a primer? (produced by an enzyme called primase) comes
along and binds to the end of the leading strand. The primer acts as the starting point
for DNA synthesis.
 DNA polymerase?
 binds to the leading strand and then ‘walks’ along it, adding
new complementary? nucleotide? bases (A, C, G and T) to the strand of DNA in the 5’ to 3’
direction.
 This sort of replication is called continuous.
Lagging strand:
 Numerous RNA primers are made by the primase enzyme and bind at various points
along the lagging strand.
 Chunks of DNA, called Okazaki fragments, are then added to the lagging strand also
in the 5’ to 3’ direction.
 This type of replication is called discontinuous as the Okazaki fragments will need to
be joined up later.
 Once all of the bases are matched up (A with T, C with G), an enzyme called
filled by yet more complementary nucleotides.
 The new strand is proofread to make sure there are no mistakes in the new DNA
sequence.
 Finally, an enzyme called DNA ligase? seals up the sequence of DNA into two continuous
double strands.
 The result of DNA replication is two DNA molecules consisting of one new and one
old chain of nucleotides. This is why DNA replication is described as semi-
conservative, half of the chain is part of the original DNA molecule, half is brand
new.
 Following replication the new DNA automatically winds up into a double helix. 
  When the mRNA sequence is read, each tRNA molecule delivers its amino acid to
the ribosome and binds temporarily to the corresponding codon on the mRNA
What is gene expression? molecule.
Gene expression is the process by which the instructions in our DNA are converted into a  Once the tRNA is bound, it releases its amino acid and the adjacent amino acids all
functional product, such as a protein. join together into a long chain called a polypeptide.
 When the information stored in our DNA? is converted into instructions for  This process continues until a protein is formed.
making proteins? or other molecules, it is called gene expression?.  Proteins carry out most of the active functions of a cell.
 Gene expression is a tightly regulated process that allows a cell to respond to its
changing environment.
 It acts as both an on/off switch to control when proteins are made and also a volume
control that increases or decreases the amount of proteins made.
 There are two key steps involved in making a protein, transcription and translation. 
Transcription
 Transcription is when the DNA in a gene? is copied to produce an RNA? transcript
called messenger RNA? (mRNA).
 This is carried out by an enzyme? called RNA polymerase which uses available bases
from the nucleus? of the cell to form the mRNA.
 RNA is a chemical similar in structure and properties to DNA, but it only has a
single strand of bases? and instead of the base thymine ?(T), RNA has a base
called uracil? (U). 

An illustration showing the process of

transcription.
Image credit: Genome Research
Limited

An illustration showing the process of translation.

What is the 'Central Dogma'?

The ‘Central Dogma’ is the process by which the instructions in DNA are converted into a
functional product. It was first proposed in 1958 by Francis Crick, discoverer of the structure
of DNA.
 The central dogma of molecular biology explains the flow of genetic information,
Translation from DNA ?to RNA?, to make a functional product, a protein?.
 Translation occurs after the messenger RNA (mRNA) has carried the transcribed  The central dogma suggests that DNA contains the information needed to make all of
‘message’ from the DNA to protein-making factories in the cell, called ribosomes?. our proteins, and that RNA is a messenger that carries this information to the ribosomes?.
 The message carried by the mRNA is read by a carrier molecule called transfer RNA ?  The ribosomes serve as factories in the cell where the information is ‘translated’
(tRNA). from a code into the functional product.
 The mRNA is read three letters (a codon) at a time.  The process by which the DNA instructions are converted into the functional product
 Each codon specifies a particular amino acid?. For example, the three bases ‘GGU’ code is called gene expression?.
for an amino acid called glycine.  Gene expression has two key stages - transcription? and translation?.
 As there are only 20 amino acids but 64 potential combinations of codon, more than  In transcription, the information in the DNA of every cell is converted into small,
one codon can code for the same amino acid. For example, the codons ‘GGU’ and portable RNA messages.
‘GGC’ both code for glycine.  During translation, these messages travel from where the DNA is in the cell nucleus
 Each amino acid is attached specifically to its own tRNA molecule. to the ribosomes where they are ‘read’ to make specific proteins.
 The central dogma states that the pattern of information that occurs most frequently
in our cells is:
 o From existing DNA to make new DNA (DNA replication?)
o From DNA to make new RNA (transcription)
o From RNA to make new proteins (translation).
An illustration showing the flow of information between DNA, RNA and protein.
Image credit: Genome Research Limited
 Reverse transcription is the transfer of information from RNA to make new DNA,
this occurs in the case of retroviruses, such as HIV?. It is the process by which the
genetic information from RNA is assembled into new DNA.
Does the ‘Central Dogma’ always apply?
 With modern research it is becoming clear that some aspects of the central dogma
are not entirely accurate.
 Current research is focusing on investigating the function of non-coding RNA?.
 Although this does not follow the central dogma it still has a functional role in the
cell.  
What does DNA do?
The DNA code contains instructions needed to make the proteins and molecules essential for
our growth, development and health.
 DNA?
 provides instructions for making proteins? (as explained by the central dogma?).
 The sequence of the bases?, A, C, G and T, in DNA determines our unique genetic code
and provides the instructions for producing molecules in the body.
 The cell reads the DNA code in groups of three bases. Each triplet of bases, also
called a codon, specifies which amino acid? will be added next during protein synthesis.
 There are 20 different amino acids, which are the building blocks of proteins.
 Different proteins are made up of different combinations of amino acids. This gives
them their own unique 3D structure and function in the body.
 Only 61 of the 64 codons are used to specify which of the 20 amino acids is next to
be added.
 There are three codons that don’t code for an amino acid. These codons mark the end
of the protein and stop the addition of amino acids to the end of the protein chain.
The codon wheel above can be used to translate DNA codons into amino acids. Find the first
letter of your sequence in the inner circle and work outwards to see the corresponding amino
acid, for example ATG = methionine.
Image credit: Genome Research Limited
 Examples of proteins include keratin, the protein in your hair, and haemoglobin, the
oxygen-carrying protein in your blood.
 Although a major function of the genome?, less than two per cent of the human genome
provides instructions for making proteins.
 The rest of the genome, which is called non-coding DNA?, has a variety of functions. These
include regulating when proteins are made and controlling the packaging of DNA
within the cell.
However, there is still much we have to learn about the function of non-coding
DNA. 
What is a mutation?
A mutation is a change that occurs in our DNA sequence, either due to mistakes when the
DNA is copied or as the result of environmental factors such as UV light and cigarette smoke. 
 Over a lifetime our DNA? can undergo changes or ‘mutations?’ in the sequence of bases?, A,
C, G and T.
 This results in changes in the proteins? that are made. This can be a bad or a good thing.
 Mutations can occur during DNA replication? if errors are made and not corrected in time.
 Mutations can also occur as the result of exposure to environmental factors such as
smoking, sunlight and radiation.
 Often cells can recognise any potentially mutation-causing damage and repair it
before it becomes a fixed mutation.
 Mutations contribute to genetic variation? within species?.  
 Mutations can also be inherited, particularly if they have a positive effect.
  For example, the disorder sickle cell anaemia? is caused by a mutation in the gene? that
instructs the building of a protein called haemoglobin?. This causes the red blood cells? to
become an abnormal, rigid, sickle shape. However, in African populations, having
this mutation also protects against malaria?.
 However, mutation can also disrupt normal gene activity and cause diseases,
like cancer?
 Cancer is the most common human genetic disease; it is caused by mutations
occurring in a number of growth-controlling genes. Sometimes faulty, cancer-
causing genes can exist from birth, increasing a person’s chance of getting cancer. 

 Insertion – when a base is added to the sequence.

An illustration to show an example of a DNA mutation.

What types of mutation are there?

There are lots of different mutations that can occur in our DNA. 
 Deletion – when a base is deleted from the sequence.
Small-scale mutations

 Point mutation? – a change in one base? in the DNA? sequence.

 Substitution – when one or more bases in the sequence is replaced by the same

number of bases (for example, a cytosine? substituted for an adenine?).
Large-scale mutations
 Copy number variation?
 (CNV) is a type of mutation where large chunks of DNA are inserted,
repeated or lost. These regions of DNA can be between 10,000 and 5,000,000 bases
long.
 Duplication of genes?. When there is an increase in the number of copies of a gene.
 Deletions of large regions of the chromosome.
 Loss of one copy of a gene in an organism that previously had two copies.
 Loss of both copies of the same gene.
 Movement of sections of DNA from one location to another.
 Addition of an extra copy of a chromosome. For example, an extra copy/partial copy
 Inversion – when a segment of a chromosome? is reversed end to end. of chromosome 21 results in Down’s syndrome?.
How do we inherit mutations?
 Each of our genes is a copy from either our mum or our dad. If there is a mutation in
one of these genes, this can be passed on from parent to child along with the rest of
their genes.
 Small inherited changes can make big differences to our bodies. For example, the
most common mutation to cause cystic fibrosis? is the loss of three letters in a gene
called CFTR. 
 Even though mutation is common, inherited diseases are relatively rare. This is
because inherited diseases are often recessive, which means that a person must have
two copies of the mutated gene to get the disease.