ASSIGNMENT ON

STRUCTURAL CHANGES OF CHROMOSOME

Course Code: GPB 222

Course Title: Fundamentals of Genetics

SUBMITTED TO
Md. Abdul Latif
Professor
Md. Mainul Islam Rashad
Assistant Professor
Md. Ibrahim Khalil
Lecturer

SUBMITTED BY
Shurya Islam
ID: 2001051
Atikul Islam Sanin
ID: 2001052
Masum Billah
ID: 2001053
Timu Submission Date:
ID: 2001055 November 16, 2023

Department of Genetics and Plant Breeding

Patuakhali Science and Technology University
 STRUCTURAL CHANGES OF CHROMOSOME

INTRODUCTION

Any change which alters the normal structure of a chromosome is known as structural
chromosomal change. Such changes are also referred to as chromosomal mutations or
structural chromosomal aberrations. Important points about structural chromosomal changes
are given below:

1. Changes in chromosome structure may take place both in somatic as well as germ cells.

2. Structural changes usually take place either during interphase or early prophase.

3. Structural changes occur due to breakage and reunion of the chromosome. The breaks may
be caused by radiations and various chemicals. Sometimes breaks also occur under natural
conditions due to cosmic irradiation, temperature treatment etc.

4. The chromosomal breaks are of two types, viz.. restituted and non-restituted. In case of
restituted breaks, reunion restores the original sequence of genes in a chromosome, while
non-restituted breaks lead to various changes in chromosome structure.

5. Two non-restituted breaks in one chromosome can lead to deficiency, duplication and
inversion. A non-restituted break in each of two non-homologous chromosomes may lead to
reciprocal translocations.

6. Structural chromosomal changes are detected either by pairing of chromosomes at

pachytene stage or by pollen sterility.

7. Structural changes lead to alteration in phenotype, fertility, viability and karyotype of an

individual. Thus structural changes are of great evolutionary significance

TYPES OF STRUCTURAL CHANGES

Changes which occur in chromosome structure are of two types, viz. 1. those which alter
gene number in the chromosome, and 2. those which alter the sequence of genes in the
chromosome. The first group includes deletion and duplications and the second group
consists of translocations and inversions. Thus four types of structural changes, viz. deletion,
duplication, translocation and inversion occur in the chromosome.

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 STRUCTURAL CHANGES OF CHROMOSOME
So there are 4 types of structural changes:

1. Deletion
2. Duplication
3. Translocation
4. Inversion

DELETION

Deletion refers to loss of a portion of segment from a chromosome. It is also known as

deficiency. Deletions have been observed in Drosophila, maize, tomato, wheat and several
other crops.

Depending upon the location, deletions are of two types:

1. Terminal deletion
2. Interstitial deletion

Terminal Deletion

A chromosome has two ends or terminals. Loss of either terminal segment of a chromosome
known as terminal deletion. It may be of two types, viz. heterozygous and homozygous.

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 STRUCTURAL CHANGES OF CHROMOSOME
When deletion occurs only in one chromosome of a homologous pair, it is known as
heterozygous deletion. When deletion occurs in both the chromosomes of a pair, it is termed
as homozygous deletion.

Interstitial Deletion

Sometimes, there is loss of a segment of chromosome from the intermediate portion or

between telomere and centromere. Such loss of intercalary portion of chromosome is known
as interstitial or intercalary deletion. The interstitial deletion generally does not involve
centromere. In such deletion, the break occurs at two places. The intercalary portion comes
out and the remaining portions are reunited.

GENETIC EFFECTS

Deletions have effects on fertility, viability, crossing over, phenotype and karyotype as
described below:

Fertility

The pollen fertility is reduced in the presence of deletion. The pollen produced by a deficient
heterozygote is of two types, viz. functional and nonfunctional. The pollens with normal
chromosomes are functional and those with deficient chromosomes are aborted or
nonfunctional.

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 STRUCTURAL CHANGES OF CHROMOSOME

Viability

A very small deletion in the heterozygous state is viable, but is lethal in homozygous
condition. However, a large deletion is lethal even in heterozygous condition. This reveals
that all the genes (segments) of a chromosome are vital for normal viability and complete loss
of any segment from the genome is harmful.

Crossing over

The crossing over is suppressed in the region of deficiency due to lack of corresponding
segment in the area of deletion.

Phenotype

Deletion also affects the phenotype. In the absence of dominant gene in the deletion region
recessive gene expresses even in single dose. This results in the change in phenotype.
Another example is in man a syndrome called cat cry (cri du chat). This results due to
deletion in the short arm chromosome. Babies with such defect cry continuously like a cat.

Significance

Deletions play an important role in species formation and releasing variability through
chromosomal mutations. Deletions are important cytological tools for mapping genes.
Deletion mapping has been widely used in Drosophila to locate various genes in polytene
chromosomes.

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 STRUCTURAL CHANGES OF CHROMOSOME

DUPLICATION

Duplication refers to the occurrence of a segment twice in the same chromosome. It results in
addition of one or more genes to a chromosome. Duplication is also known as repeat and was
first reported in Drosophila by Bridges in 1919. Now it has been reported in maize, wheat,
barley, rice, nicotiana, tradescantia and several other crop plants.

Duplications are of four types:

1. Tandem
2. Reverse tandem
3. Displaced
4. Reverse displaced
Tandem

In this case sequence of genes in the duplicated segment is similar to the sequence of genes in
the original segment of a chromosome.

Reverse tandem

Here the sequence of genes in the duplicated segment is reverse to the sequence of genes in
the original segment of a chromosome. Tandem and reverse tandem duplications are called
adjacent duplication.

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 STRUCTURAL CHANGES OF CHROMOSOME

Displaced

When the duplication is found away from the original segment but on the same arm of the
chromosome, it is known as displaced duplication.

Reverse displaced

Such duplication is also away from the original segment but on the other arm of a
chromosome. These two types are known as non-adjacent duplication.

GENETIC EFFECT

Duplications have been found to affect phenotype, crossing over, gene number and pollen
fertility.

1. Phenotype

Duplication of certain genetic regions produces specific phenotypic effect. For example,
gene for bar eye (16A segment) in Drosophila produces normal oval shaped eye when present
in single dose, bar eye with two doses of 16A and ultrabar with three doses of 16A segment.

2. Crossing Over

. Crossing over is suppressed in the duplicate region due to lack of corresponding duplicated
segment in the normal chromosome.

3. The gene number is increased in the chromosome having duplication

4. Presence of duplication leads to reduction in pollen fertility in plant species.

Significance

Duplications are less harmful than deletions. They do not reduce the viability of an
individual. Duplications lead to addition of some genes in a population which after mutation
play an important role in the evolution. Moreover, duplications sometimes cover the
deleterious effects of deletion in an individual.

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 STRUCTURAL CHANGES OF CHROMOSOME

TRANSLOCATION

One way or reciprocal transfer of segments between non-homologous chromosomes is known

as translocation. Translocations have been reported in Datura, maize, Oenothera, barley, rye,
wheat Tradescantia, and several other crops by various researchers. Translocation differs
from the crossing over because it involves non-homologous chromosomes while crossing
over involves two non-sister chromatids of homologous chromosomes

Translocations are of three types:

1. Simple
2. Shifts
3. Reciprocal

Simple translocation

In this type of translocation a segment of a chromosome is transferred and attached to the

terminal end of a non-homologous chromosome.

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 STRUCTURAL CHANGES OF CHROMOSOME
Fig: Simple Translocation

Shifts

Transfer of an intercalary segment from one chromosome to the intercalary position in a non-
homologous chromosome is referred to as shift. Thus two breaks occur in a loser
chromosome and one break in the gainer chromosome for transfer and integration of such
segment.

Reciprocal translocation

When there is a mutual exchange of segments between non-homologous chromosomes, it is

known as reciprocal translocation. In such translocations, one break occurs in each
chromosome before exchange of segments. Such translocations are very common and have
great evolutionary significance.

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 STRUCTURAL CHANGES OF CHROMOSOME

Reciprocal translocations are of two types

1. Homozygotes
2. Heterozygotes
In case of reciprocal translocation homozygotes both the chromosomes of two pairs are
involved.

Sometimes, more than two pairs of non-homologous chromosomes are involved in

translocation Such translocations are known as multiple translocations and have been
reported in Drosophila and Oenothera.

Fig: Homozygous & Heterozygous Translocation

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 STRUCTURAL CHANGES OF CHROMOSOME

GENETIC EFFECTS

The main effects of translocation are on sterility, crossing over, karyotype and phenotype as
described below:

Sterility

Translocations lead to duplication and deletion of genes. Gametes with duplication and
deficiencies are inviable. Thus translocations result in pollen and ovule sterility. If there is a
ring of four chromosomes, 50% sterility is observed and if there is a ring of six
chromosomes, 75% sterility is found. Thus presence of translocations reduces the yield in
crop plants due to formation of imbalanced zygotes.

Crossing Over

The crossing over is generally suppressed in translocated chromosomes probably due to

competition in pairing.

Karyotype

Translocations bring changes in chromosome number and karyotype. They may alter the size
of chromosome as well as position of centromere.

Phenotype

Translocations also change phenotype. For example, in human, Down Syndrome

(Mangolism) can arise in the progeny of an individual heterozygous for a translocation
involving chromosome number 21. Such individuals look normal phenotypically, but produce
gametes with duplication and deficiencies. Union of such gametes with normal one leads to
development of individual with Down Syndrome.

Significance

Translocations alter the chromosome size, chromosome number, and karyotype and thus play
an important role in the formation of species. Translocation homozygotes lead to
establishment of new linkage relationship. They are useful in locating the position of genes,
centromere and other genetic markers on the chromosomes. They are useful tools in breeding
programmes for transfer of desirable characters from one species to another.

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 STRUCTURAL CHANGES OF CHROMOSOME

INVERSION

Inversion refers to structural change in a chromosome in which a segment is oriented in a

reverse order. Thus the inverted segment is rotated to a full 180°. Inversion was first
discovered by Sturtevant in 1926 in Drosophila. Now it has been reported in maize, Nicotiana
and several other plants.

Depending upon whether centromere is involved or not inversions are of two types:

1. Paracentric inversion
2. Pericentric inversion

Paracentric inversion

When the centromere is not involved in inversion, it is known as paracentric inversion. In this
type of inversion break occurs only in one arm of the chromosome.

Pericentric inversion

When the centromere is involved in inversion, it is known as pericentric inversion. In this

type of inversion break occurs both in each of the two arms of a chromosome.

Fig: Paracentric And Pericentric Inversion

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 STRUCTURAL CHANGES OF CHROMOSOME

GENETIC EFFECTS

Inversions have effects on fertility, crossing over, gene order and karyotype as discussed
below:

Fertility

The crossing over in the inversion loop leads to formation of chromosomes with duplications
a deficiencies. Gametes with such chromosomes are inviable and lead to 50% sterility.

Crossing Over

Inversion heterozygotes often have pairing problems in the area of inversion. Thus
competition for pairing reduces crossing over in the area of inversion.

Gene Order

The gene order is changed in the inverted segment of a chromosome. Inversion heterozygote
exhibit a linkage map with different gene order. In inverted chromosome there is no loss of
gene material provided crossing does not occur in the inversion loop.

Karyotype

Pericentric inversions sometimes results in change of karyotype by shifting the position

centromere. Crossing over in the inversion loop may lead to shift in the position of
centromere.

Significance

Inversions are very much useful in production of duplications and deficiencies. A large cross
over in the inversion loop produces chromatids with duplication and deficiency. Inversions
also play important role in the evolution of new species by changing the karyotype of an
individual. Inversion suppress crossing over and tend to retain the original combination of
genes. This may help in preserving original gene combinations. Moreover, inversions
provide strong evidence that out of four genes only two chromatids are involved in the
crossing over.

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REFERENCES:

1. GENETICS BY PHUNDAN SINGH (Second Revised Edition 2009)

Chapter 8, Changes in chromosome structure

Page 65-78

2. Structural Changes in Chromosomes

(biocyclhttps://biocyclopedia.com/index/genetics/structural_changes_in_chromosomes/
structural_changes_in_chromosomes.phpopedia.com)

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