MUTATION

In Biology, a mutation is the permanent alteration of the nucleotide sequence of the genome of
an organism, virus, or extrachromosomal DNA or other genetic elements.

Mutations result from errors during DNA replication (especially during meiosis) or other types
of damage to DNA (such as may be caused by exposure to radiation or carcinogens), which then
may undergo error-prone repair (especially microhomology-mediated end joining), or cause an
error during other forms of repair, or else may cause an error during replication. Mutations may
also result from insertion or deletion of segments of DNA due to mobile genetic elements.
Mutations may or may not produce discernible changes in the observable characteristics
(phenotype) of an organism. Mutations play a part in both normal and abnormal biological
processes including: evolution, cancer, and the development of the immune system

A change in the sequence of bases in DNA or RNA is called a mutation. Everyone has
mutations. In fact, most people have dozens or even hundreds of mutations in their DNA.
Mutations are essential for evolution to occur. They are the ultimate source of all new genetic
material—new alleles in a species. Although most mutations have no effect on the organisms in
which they occur, some mutations are beneficial. Even harmful mutations rarely cause drastic
changes in organisms.

Causes of Mutation

Mutations have many possible causes. Some mutations seem to happen spontaneously without
any outside influence. They occur when mistakes are made during DNA replication or
transcription. Other mutations are caused by environmental factors. Anything in the environment
that can cause a mutation is known as a mutagen. Types of mutagens include radiation,
chemicals, and infectious agents. Mutation occurs frequently in nature and has been reported in
many organisms e.g Drosophilia, mice and other rodents, guinea pig and man. In rodent, the
mutations are responsible for white, black and brown coat. In man, mutations cause variation in
hair colour, eye colour, skin pigmentation and several somatic malformations.

Types of Mutations

There are a variety of types of mutations. Two major categories of mutations are germline
mutations and somatic mutations.
• Germline mutations occur in gametes. These mutations are especially significant because they
can be transmitted to offspring and every cell in the offspring will have the mutation.
• Somatic mutations occur in other cells of the body. These mutations may have little effect on
the organism because they are confined to just one cell and its daughter cells. Somatic mutations
cannot be passed on to offspring.
Mutations also differ in the way that the genetic material is changed. Mutations may change the
structure of a chromosome or just change a single nucleotide.

Chromosomal Alterations
Chromosomal alterations are mutations that change chromosome structure. They occur when a
section of a chromosome breaks off and rejoins incorrectly or does not rejoin at all.

Chromosomal Mutations Chromosomal Mutations are major changes in the genetic material.
Chromosomal Mutations are very serious. They often result in the death of the organism in
which they occur. If the organism survives, it may be affected in multiple ways. An example of a
human chromosomal alteration is the mutation that causes Down Syndrome. It is a duplication
mutation that leads to developmental delays and other abnormalities.

Effects of Mutations

The majority of mutations have neither negative nor positive effects on the organism in which
they occur. These mutations are called neutral mutations. Examples include silent point
mutations. They are neutral because they do not change the amino acids in the proteins they
encode. Many other mutations have no effect on the organism because they are repaired before
protein synthesis occurs. Cells have multiple repair mechanisms to fix mutations in DNA. If a
cell’s DNA is permanently damaged and cannot be repaired, the cell is likely to be prevented
from dividing.

Beneficial Mutations

Some mutations have a positive effect on the organism in which they occur. They are called
beneficial mutations. They lead to new versions of proteins that help organisms adapt to changes
in their environment. Beneficial mutations are essential for evolution to occur. They increase an
organism’s chances of surviving or reproducing, so they are likely to become more common over
time. There are several well-known examples of beneficial mutations. Here are just two:

1. Mutations in many bacteria that allow them to survive in the presence of antibiotic drugs. The
mutations lead to antibiotic-resistant strains of bacteria.

2. A unique mutation is found in people in a small town in Italy. The mutation protects them
from developing atherosclerosis, which is the dangerous buildup of fatty materials in blood
vessels. The individual in which the mutation first appeared has even been identified.

Harmful Mutations

Imagine making a random change in a complicated machine such as a car engine. The chance
that the random change would improve the functioning of the car is very small. The change is far
more likely to result in a car that does not run well or perhaps does not run at all. By the same
token, any random change in a gene’s DNA is likely to result in a protein that does not function
normally or may not function at all. Such mutations are likely to be harmful. Harmful mutations
may cause genetic disorders or cancer.

Genetic Disorders

A genetic disorder is a disease caused by a mutation in one or a few genes. A human example is
cystic fibrosis. A mutation in a single gene causes the body to produce thick, sticky mucus that
clogs the lungs and blocks ducts in digestive organs. Many genetic disorders are caused by
mutations in one or a few genes. Other genetic disorders are caused by abnormal numbers of
chromosomes.

Genetic Disorders Caused by Mutations

Table below lists several genetic disorders caused by mutations in just one gene. Some of the
disorders are caused by mutations in autosomal genes, others by mutations in X-linked genes.
Genetic Disorder Direct Effect of Mutation Signs and Symptoms Mode of Inheritance
of the Disorder
Marfan syndrome defective protein in heart and bone defects autosomal dominant
connective tissue and unusually long,
slender limbs and
fingers
Sickle cell anemia abnormal hemoglobin sickle-shaped red autosomal recessive
protein in red blood cells blood cells that clog
tiny blood vessels,
causing pain and
damaging organs and
joints
Vitamin D- lack of a substance needed soft bones that easily X-linked dominant
resistant rickets for bones to absorb become deformed,
minerals leading to bowed legs
and other skeletal
deformities
Hemophilia A reduced activity of a protein internal and external X-linked
needed for blood clotting bleeding that occurs
easily and is difficult
to control

Chromosomal Disorders

Mistakes may occur during meiosis that results in nondisjunction. This is the failure of replicated
chromosomes to separate during meiosis. Some of the resulting gametes will be missing a
chromosome, while others will have an extra copy of the chromosome. If such gametes are
fertilized and form zygotes, they usually do not survive. If they do survive, the individuals are
likely to have serious genetic disorders. The table below shows the lists of several genetic
disorders that are caused by abnormal numbers of chromosomes. Most chromosomal disorders
involve the X chromosome. Look back at the X and Y chromosomes and you will see why. The
X and Y chromosomes are very different in size, so non-disjunction of the sex chromosomes
occurs relatively often.

Genetic Disorder Genotype Phenotypic Effects

Down syndrome extra copy (complete or partial) developmental delays,

of chromosome 21 distinctive facial appearance,
and other abnormalities
Turner’s syndrome one X chromosome but no female with short height and
other sex chromosome (XO) infertility (inability to
reproduce)

Triple X syndrome three X chromosomes (XXX) female with mild

developmental delays and
menstrual irregularities

Klinefelter’s syndrome one Y chromosome and two or male with problems in sexual
more X chromosomes (XXY, development and reduced
XXXY) levels of the male hormone
testosterone