Topic-1: MUTATIONS

INTRODUCTION: Sometimes there may be some change in chromosome structure or

chromosome number or alteration in composition of DNA of a gene. This change is scientifically
termed as “mutation”. Mutation is an alteration in the genetic material (the genome) of a cell
of a living organism that is more or less permanent and that can be transmitted to the cell’s
descendants. “Mutation” has a vast classification. Generally, mutation can be either somatic
mutation or germinal mutation. Mutation in the DNA of a body cell of a multicellular organism
is known as somatic mutation. Mutation in egg or sperm cells is known as germinal mutation.
Depending upon the cause, mutations are basically of two types, namely – (i) Chromosomal
mutation or Chromosomal aberration and (ii) Gene mutation.

CHROMOSOMAL MUTATIONS

Chromosomal mutation takes place in the following two cases – (i) Changes in Chromosome
Structure and (ii) Changes in Chromosome Number.

(i) CHANGES IN CHROMOSOME STRUCTURE:

• Deletion or Deficiency: The simplest result of breakage is the loss of a part of a
chromosome. Portions of chromosomes without a centromere (called acentric
fragments) lag in anaphase movement and are lost from reorganizing nuclei or digested
by nucleases. Such loss of a portion of a chromosome (and of some genes) is called
deletion. The chromosomes with deletions can never revert to a normal condition.
Further, a deletion can be terminal or intercalary (interstitial). In terminal deletion a
terminal section of a chromosome is absent and it is resulted by only one break. While in
the intercalary deletion, an intermediate section or portion of chromosome is lost and it
is caused by two breaks – one on either end of the deleted region.

• Duplication: A duplication is a chromosomal mutation that results in the doubling of a

segment of a chromosome. The size of the duplicated segment varies widely, and
duplicated segments may occur at different locations in the genome or adjacent to each
other. When the mutation generates duplicated segments that are adjacent to each other
with the order of the genes in both segments the same as the order of the original, the
mutation is a tandem duplication. When the order of genes in the duplicated segment is
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 the opposite of the order of the original, the mutation is a reverse tandem duplication;
when the duplicated segments are arranged in tandem at the end of a chromosome, the
mutation is a terminal tandem duplication. If the duplicated segment is located at some
distance from the original segment, either on the same chromosome or on a different
one, the mutation is a displaced duplication.

• Inversion: Inversion is basically the reversal of orientation of a DNA segment in a

chromosome. An inversion is a chromosomal mutation that results when a segment of a
chromosome is excised and then reintegrated at an orientation 180 degrees from original
orientation. There are two types of inversions: A paracentric inversion does not include
the centromere, and a pericentric inversion includes the centromere.

• Translocation: A translocation is a chromosomal mutation in which there is a change in

the position of chromosome segments and the gene sequences they contain to a different
location in the genome. A translocation entails the movement of genetic material
between non-homologous chromosomes or within the same chromosome. No gain or
loss of genetic material is involved in a translocation. If a chromosome segment changes
position within the same chromosome, the translocation is a non-reciprocal
intrachromosomal (within a chromosome) translocation. If a chromosome segment is
transferred from one chromosome to another, the translocation is a non-reciprocal
interchromosomal (between chromosomes) translocation if a one-way transfer is
involved and a reciprocal interchromosomal translocation if an exchange of segments
between the two chromosomes is involved. Simple translocations involve a single break
in a chromosome. The broken piece gets attached to one end of a non-homologous
chromosome. In Shift translocation, the broken segment of one chromosome gets
inserted interstitially in a non-homologous chromosome. In Reciprocal translocations, a
segment from one chromosome is exchanged with a segment from another non-
homologous one, so that in reality two translocation chromosomes are simultaneously
achieved.

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 DELETION

DUPLICATION
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 INVERSION

TRANSLOCATION

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(ii) CHANGES IN CHROMOSOME NUMBER:
In addition to chromosome rearrangements, chromosome mutations include changes in the
number of chromosomes. Variations in chromosome number can be classified into two basic
types: aneuploidy, which is a change in the number of individual chromosomes, and polyploidy,
which is a change in the number of chromosome sets.

Types of Aneuploidy: Types of Aneuploidy We will consider four types of common

aneuploid conditions in diploid individuals: Nullisomy, monosomy, trisomy, and
tetrasomy.
• Nullisomy is the loss of both members of a homologous pair of chromosomes. It is
represented as 2n – 2, where n refers to the haploid number of chromosomes. Thus,
among humans, who normally possess 2n = 46 chromosomes, a nullisomic zygote has 44
chromosomes.
• Monosomy is the loss of a single chromosome, represented as 2n – 1. A human
monosomic zygote has 45 chromosomes.
• Trisomy is the gain of a single chromosome, represented as 2n + 1. A human trisomic
zygote has 47 chromosomes. The gain of a chromosome means that there are three
homologous copies of one chromosome. Most cases of Down syndrome, discussed in the
introduction to the chapter, result from trisomy of chromosome 21.
• Tetrasomy is the gain of two homologous chromosomes, represented as 2n + 2. A human
tetrasomic zygote has 48 chromosomes. Tetrasomy is not the gain of any two extra
chromosomes, but rather the gain of two homologous chromosomes; so there will be four
homologous copies of a particular chromosome.
More than one aneuploid mutation may occur in the same individual organism. An
individual that has an extra copy of two different (non-homologous) chromosomes is
referred to as being double trisomic and represented as 2n+ 1 + 1. Similarly, a double
monosomic has two fewer non-homologous chromosomes (2n – 1 – 1), and a double
tetrasomic has two extra pairs of homologous chromosomes (2n + 2 + 2).

Types of Polyploidy:
• Autopolyploidy is a type of polyploidy in which all chromosome sets are from a single
species, e.g., AAA (auto triploid), AAAA (auto tetraploid)
• Allopolyploidy is a type of polyploidy in which chromosome sets are from two or more
species, e.g., AABB, AABBDD.

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 GENE MUTATIONS

Gene or genetic mutations refer to the changes to one’s DNA sequence that happen during cell
division when the cells make copies of themselves. A gene mutation can alter the phenotype of
an organism by changing the function of a protein. Gene mutations can result from DNA copying
mistakes made during cell division, exposure to ionising radiation, exposure to chemicals called
mutagens, or infection by viruses. When heritable alterations occur in a very small segment of
DNA molecule, i.e., a single nucleotide or nucleotide pair, then this type of gene mutation is
known as “point mutation”. All point mutations are gene mutations but all gene mutations are
not point mutations.

Types of Gene mutation : Gene mutation can be classified into the following two types, namely
—

• Substitution mutation: It is a kind of gene mutation in which one or more nitrogenous

bases are changed with others. Substitution mutation are further of two types –
Transition and Transversion. In case of transition, a purine is replaced by a different
purine or, alternatively, a pyrimidine is replaced by a different pyrimidine. In case of
transversion, a purine is replaced by a pyrimidine or, a pyrimidine is replaced by a purine.
Thus, transition is a kind of substitution gene mutation in which a purine (say, adenine) is
replaced by another purine (say, guanine), or a pyrimidine (say, thymine) is replaced by
another pyrimidine (say, cytosine). On the other hand, transversion is a kind of
substitution gene mutation in which a purine (say, adenine or guanine) is replaced by a
pyrimidine (say, thymine or cytosine) or vice versa.

• Frame shift mutation: A frameshift mutation is an insertion or deletion mutation that

affects the normal reading frame of the gene. Insertions or deletions are the addition or
the removal, respectively, of one or more nucleotide pairs. Gene mutations involving
insertion and deletion often lead to a change in the normal reading frame of a gene. Such
change is known as frame shift mutation. So, in simple words, we can say that when any
changes or alterations in the reading frame of a gene takes place due to the insertion
(addition) or deletion (subtraction) of nucleotides, then such kind of mutation is known
as frameshift mutation.

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 TRANSITIONS vs. TRANSVERSIONS

Induced versus Spontaneous Mutations

Spontaneous mutations are naturally occurring mutations. Induced mutations occur when an
organism is exposed either deliberately or accidentally to a physical or chemical agent, known
as a mutagen, that interacts with DNA to cause a mutation.

• Spontaneous Mutations: The spontaneous mutations occur suddenly in the nature and
their origin is unknown. They are also called “background mutation” and have been
reported in many organisms such as, Oenothera, maize, bread molds, microorganisms
(bacteria and viruses), Drosophila, mice, man, etc.
• Induced Mutations: Besides naturally occurring spontaneous mutations, the mutations
can be induced artificially in the living organisms by exposing them to abnormal
environment such as radiation, certain physical conditions (i.e., temperature) and
chemicals. The substances or agents which induce artificial mutations are called
mutagenes or mutagenic agents.

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 Topic-2: EXTINCTONS

INTRODUCTION: Extinction occurs when a species no longer exists on the Earth. In simple
words, extinction means death of a taxon. But in a broad sense, extinction also includes the
effects of its disappearance from the environment with which it has interacted. A species is
said to be extinct when the last individual of that species disappears. The extinction of the
genus is followed by the death of last individual of the last species of that genus and so on.
• A species is extinct when no member of the species exists anywhere on the Earth.
• A species is extinct in the wild if it exists only alive in captivity.
• A species is locally extinct if it is no longer alive in its habitat but is still found in other
areas.
• A species is ecologically extinct if it persists in very few numbers so that it’s effects on
other species are negligible and unimportant.

CAUSES OF EXTINCTION – NATURAL AND HUMAN

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 MASS EXTINCTION
Mass extinction occurs due to rapid environmental changes and exposure to harsh conditions
during a short period of time where species do not have sufficient time to adapt to the
changes. Mass extinction includes the following characteristics— (a) Extinctions occur all over
the world. ; (b) A great number of species go extinct. ; (c) Different and many types of species
go extinct. ; (d) The extinctions are arrayed in small period of geological time. Thus, mass
extinctions are those extinctions in which a typically high proportion of species become extinct
in a relatively short time all over the world.

••• MASS EXTINCTION: THE EXTINCTION OF A LARGE NUMBER OF SPECIES WITHIN A RELATIVELY SHORT
PERIOD OF GEOLOGICAL TIME , THOUGHT TO BE DUE TO FACTORS SUCH AS A CATASTROPHIC GLOBAL EVENT OR
WIDESPREAD ENVIRONMENTAL CHANGE THAT OCCURS TOO RAPIDLY FOR MOST SPECIES TO ADAPT .

★ Various Causes Of Mass Extinction:

• Volcanic activity and eruptions.

• Decrease in oxygen levels in the deep ocean.
• Extreme changes in atmospheric chemistry and climatic change.
• Huge Asteroid impacts or the meteorite attacks on the Earth.
• Epidemic reasons.
• Extreme cases of intolerable global warming.
• Changes in the shape of continents (Plate tectonics).
• Fluctuation of Salinity in oceanic water, etc.

★ Names Of Five Major Extinctions:

• Ordovician-Silurian Extinction
• Devonian Extinction
• Permian-Triassic Extinction
• Triassic-Jurassic Extinction
• Cretaceous-Tertiary Extinction

★ K-T Extinction (in detail): Cretaceous-Tertiary extinction (in short, K–T extinction) is also
known as K–Pg extinction or Cretaceous-Paleogene extinction. This extinction is responsible
for knocking out approximately 80 percent of all species of animals. This occurred at or very
close to the boundary between the Cretaceous and Paleogene periods, about 66 million years
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ago. This extinction is perhaps the most well-known of the big five mass extinctions as the end
of the Cretaceous-Paleogene brought on the extinction of dinosaurs. Many other species of
ammonites, marine reptiles, microscopic marine planktons, bivalves and echinoderms among
other groups of animals, also went extinct. The absence of food and requirement of breathing
oxygen affected mostly the largest animals, like the land dwelling dinosaurs. This event
effectively ended 75% of life on the Earth but allowed for the evolution of mammals on the
land and sharks in the sea. A combination of volcanic activity, asteroid impacts, and climate
change are some of the causes of this extinction. High levels of iridium was found as an
evidence in the layers of rock that is very commonly present in asteroids, comets, and
meteors. This layer of rock is also called the K-T boundary.

••• THE K–T EXTINCTION MOST FAMOUSLY EXTERMINATED THE DINOSAURS ON THE
LAND AND SO MADE IT POSSIBLE FOR MAMMALS TO BECOME THE DOMINANT LAND
VERTEBRATES – AND HENCE PAVED THE WAY FOR HUMAN EVOLUTION .”

★ ROLE OF EXTINCTION IN EVOLUTION:

• Extinction plays a major role in the evolution process. Extinctions are responsible for
creating new opportunities for different forms of life to evolve and thrive. Extinction
events can lead to the loss of certain lineages, creating opportunities for other groups to
diversify and fill ecological niches.
• Extinction events lessen the competition among different species. This causes reduced
competition among the existing species for resources like food and water, which the
surviving species could utilize and diversify.
• Extinction creates space for the formation of new species as populations evolve
independently.
• Extinction resets the ecosystem allowing new species to colonize and establish new
relationships, potentially leading to more diverse ecosystems.
• Extinct species of ancient times left behind fossil records, valuable tools for evolutionary
studies (like studying evolutionary histories).
• Extinction can drive the evolution of new traits and innovations as species respond to
changing environments and selection pressures. Also, extinction events pave the way
for fitter individuals to survive and thrive.

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