Vishwashanti Gurukul world school
MYP3 Biology
Academic year 24-25
Unit 3
Unit: Development
Chapter: Genes and Inheritance, Variation
KC: Change
RC: Consequences and Evidence
Topic: DNA structure and Mutations
DNA contains all the instructions for a living thing's structure and
behaviour. Human DNA, for example, determine characteristic traits like the
eyes' colour and the lungs' function. Different segments of the DNA carry
each bit of information for traits. These segments of DNA are referred to as
genes.
Nucleic acids are the organic materials present in all organisms in the form
of DNA or RNA. These nucleic acids are formed by the combination of
nitrogenous bases, sugar molecules and phosphate groups that are linked
by different bonds in a series of sequences. The DNA structure defines the
basic genetic makeup of our body. In fact, it defines the genetic makeup of
nearly all life on earth.
Apart from being responsible for the inheritance of genetic information in all
living beings, DNA also plays a crucial role in the production of proteins.
Nuclear DNA is the DNA contained within the nucleus of every cell in a
eukaryotic organism.
What does DNA Represent?
DNA stands for Deoxyribonucleic acid.
DNA Full Form
What is DNA composed of?
DNA is made up of long, thin molecules known as nucleotides. Adenine,
thymine, cytosine, and guanine are the four types of nucleotides. Their first
letter is typically used to represent them:
Adenine - A
Thymine - T
Cytosine - C
Guanine - G
A phosphate and deoxyribose backbone connects the nucleotides together.
The nucleotides are referred to as "nitrogenous bases."
DNA Structure Diagram
Who Discovered DNA?
DNA was first recognized and identified by the Swiss biologist Johannes
Friedrich Miescher in 1869 during his research on white blood cells.
The double helix structure of a DNA molecule was later discovered through
the experimental data by James Watson and Francis Crick. Finally, it was
proved that DNA is responsible for storing genetic information in living
organisms.
Various Cell Types in the Body
There are over 210 different cell kinds in our bodies. Every cell contributes
in another way to the operation of our body. For example, blood, bone, and
muscle-building cells exist.
Types of Cells
How do Cells Decide Things?
DNA provides instructions to cells on what to do. Sort of like a computer
program, DNA functions. DNA is the software or code, and the cell is the
computer or the hardware.
The Genetic Code
The many letters of the nucleotides store the DNA code. The letters on the
DNA that make the instructions are "read" by the cell. For example, a word
called a codon is made up of three letters. The following is an example of a
codon string:
ATC TGA GGA AAT GAC CAG
Genetic Code
Genes
Genes are collections of instructions found within each DNA strand. A gene
instructs a cell on how to produce a certain protein. The cell uses proteins
to carry out certain tasks, grow, and live.
Structure of DNA
DNA has a specific form, despite seeming to be very thin, lengthy strings
under a microscope. It is known as a double helix. The backbone that binds
the DNA together is outside the double helix. There are two sets of
intertwined backbones. The nucleotides indicated by the letters A, T, C, and
G are located between the backbones. Each backbone is connected by a
separate nucleotide, which binds to another nucleotide in the centre.
Nucleotides can only fit together in specific combinations. Therefore, they
can be compared to puzzle pieces: G and A are the only connections they
have with each other.
Basic DNA Structure
Interesting DNA-Related Facts
• Everyone on the earth shares exactly the same 99.9% of their DNA.
However, we are all different in that 0.1 percent of the population.
• James Watson and Francis Crick, two scientists, discovered the
double helix structure of DNA in 1953.
• Your body contains enough DNA molecules to extend to the Sun and
back multiple times if you were to unravel every single one of them.
• Within the cell, DNA is arranged into things called chromosomes.
• Friedrich Meischer, a Swiss researcher, discovered and isolated DNA
for the first time in 1869.
Functions of DNA
The proper functioning of DNA molecules contributes to the body's
continued health. DNA aids in the production of proteins, which are
essential for cell survival. DNA also enables the procreation of living beings.
Biological characteristics are passed down from parents to offspring through
DNA genes. Sometimes DNA contains errors. The term "mutations" refers to
these errors. They can bring up illnesses and other issues.
Mutations
• Mutation refers to a change in the nucleotide sequence of the genome
of a living organism.
• The change or alteration occurring in our DNA base sequences (A, C,
G and T) is due to various environmental factors including Ultraviolet
light and also due to errors caused when the DNA is copied.
• RNA and DNA, both are types of nucleic acids, therefore, anything
with RNA or DNA can have a mutation. It concludes that living
organisms including animals, humans, plants, bacteria, fungi,
protists and archaea can all have mutations. Also, viruses can have
mutations. Many mutations are neutral in effect and can also be
harmful as well as helpful in some manner (organisms can survive
certain unfavourable conditions because of mutation)
Mutations make the protein synthesis go wrong during translation or
mistakes in DNA are present that result in abnormalities in bodies in the
form of some diseases like sickle cell anemia. So, the causes of mutation can
be any of the below-mentioned points.
1. Mutations can be inherited from parents to a child.
2. Mutations are spontaneous, eg- DNA replication errors (internal
factor), environmental factors and completely random reasons.
3. External factors such as certain types of chemicals or excessive
radiation also cause mutations to occur.
Types of Mutation
After knowing the mutation definition and causes of mutation, let’s learn
about different mutations and their types.
1. Gene Mutations
• DNA makes up genes and genes can code for proteins, influencing
various traits. However, not all genes code for proteins and not all
genes are turned on.
• Therefore, when a mutation in DNA occurs, it means a change in one
or more DNA bases takes place, then different proteins are produced
which affect an organism’s traits.
• Example: A fruit fly's DNA faces mutations; it may include-
❖ Substitution which means the wrong base is matched.
❖ Insertion which means an extra-base or other bases are added in;
❖ Deletion can occur which means a base is removed. So, the three
types of gene mutations are substitution, insertion and deletion.
• Insertions and deletions, discussed above, are known to have the
potential to be especially dangerous. This is because if we add a base
or remove a base, all of a sudden, the number of total bases change
and every base that is read in three, everything that is read afterwards
insertion/deletion could be affected. This is called frameshift
mutation and it leads to many amino acid changes.
•
• Point mutation – when one base in the DNA sequence is changed.
An illustration to show an example of a DNA mutation. Image credit: Laura
Olivares Boldú / Wellcome Connecting Science
• Substitution – when one or more bases in the sequence is replaced by
the same number of bases. For example, below, TGC is substituted for
an GAT.
Image credit: Laura Olivares Boldú / Wellcome Connecting Science
• Inversion – when a segment of DNA is reversed end to end.
Image credit: Laura Olivares Boldú / Wellcome Connecting Science
• Insertion – when one or more bases is added to the sequence.
Image credit: Laura Olivares Boldú / Wellcome Connecting Science
• Deletion – when one or more bases is deleted from the sequence.
Image credit: Laura Olivares Boldú / Wellcome Connecting Science
2. Chromosomal Mutations
When mutations occur at the level of the chromosome, it is called
chromosomal mutation. Chromosomes are made up of DNA and protein, are
highly organized and have lots of genes on them. The human chromosome
number is 46; 23 from an egg cell and 23 from a sperm cell. Similarly, the
fruit fly has 8 chromosomes, 4 comes from an egg cell and 4 comes from the
sperm cell.
Chromosomal Mutation Examples
• Examples of chromosomal mutations are duplication, where extra
copies of genes are generated.
• Another is deletion, where some of the genetic material breaks off and
inversion when a chromosome segment gets inverted (i.e. reversed)
and put back on the chromosome.
• The last one is translocation when a fragment from one chromosome
breaks off and attaches to another chromosome.
During meiosis, in fruit flies and other animals, meiosis makes sperm and
egg cells that can have half the number of chromosomes as the organism.
And sometimes, those chromosomes don’t separate completely. It is called
nondisjunction resulting in an egg or sperm cell that has too many or too
few chromosomes.
• Mutation can be passed down to an offspring; for example, a protist
with mutation when undergoes asexual reproduction and division, the
daughter cell can inherit the same mutation. These can be categorized
as somatic mutations, which we will discuss later here.
• Also, a fruit fly that reproduces sexually to pass a mutation to its
offspring if that mutation is found in the genetic material of the
sperm/egg cell. Frequent studies have been done to study fruit flies so
these can be used to cite various examples for mutations.
• Humans also pass down mutations to the offspring, for example,
substitution occurring in the case of sickle cell anaemia. Haemoglobin
is a protein in your red blood cells that helps in carrying oxygen,
however in sickle cell anaemia, the gene coding for haemoglobin is
mutated and if an offspring inherits two copies of this gene (one from
each parent), it can have this disorder too. It is a condition where it is
difficult for RBCs to carry oxygen because the shape of the RBC is
affected by the mutated Hb protein. And in other cases, if an offspring
gets one copy of a gene from one parent, it is only the carrier but not
officially gets the disease.
3. Somatic Mutation
Here, the cell that has acquired genetic alteration passes it to the progeny of
the mutated cell during the extensive and complicated process of cell
division. The mutation is basically occurring in the somatic cells of a
multicellular organism rather than the germinating cell, ie; the egg and the
sperm. That is what makes it different. Somatic mutations result from
environment changers like Ultraviolet radiations and several other chemicals
and artificial substances. The mutation affects all the cells from the mutated
cell. These mutations can occur in the major part of the body of an organism
or plant. It may showcase the mutation, or it may not showcase the
mutation. This causes many diseases including cancer.
Because these gets transferred through somatic cells only, the mutation will
not be passed to the next generation through sexual reproduction. If the
mutation is to be multiplied, the mutated cell has to either go through cell
division, as said earlier, I should be cloned.
Some of the somatic mutation examples include navel oranges and red
apples.
4. Germinal Mutation
In germinal mutation, the alteration in the germinal cells causes the
mutation. Germ cells are the ones that give rise to gametes. So this
mutation can be passed by sexual means. This can occur before fertilization
and also during different stages of the zygote formation and its progression
towards a child. If the mutation occurs before fertilization, then all the cells
of that individual will be mutated. If the mutation occurs just after
fertilization, it will be a gonosomal mutation. In the mutation developed
sometime after fertilization, there will be a small set of cells either from
germinating cells or somatic cells or both.
Genetic counselors work to help families that may be affected by genetic
disorders; this cites the importance of studying mutations.
