MUTATION

Mutation can be defined as the sudden and unpredictable change that occurs in the gene or

chromosome which alters the characteristics it control and result in a new character that can be

inherited. Mutation that occurs in the gamate or during gamate formation are inherited, whereas

those occurring in the somatic cell can only be inherited by daughter cells produced by mitosis

and are known as somatic mutation. Mutation occurs randomly and spontaneously, that is to

say the gene can undergo mutation at any time and the rate at which it occurs vary between

organisms.

As a result of the work of H. J Muller in 1920s it was observed that the frequency of mutation

could be increased above the spontaneous level by the effect of x-rays, since then it has been

shown that mutation can be significantly increased by the effect of High energy

electromagnetic radiation such as; ultraviolet light, x-ray, and gamma rays. High energy

particles such as Alpha and Beta particles, neutron, cosmic radiation. A variety of chemical

substances such as Mustard gas, Caffeine, colchicine, formaldehyde and food preservatives.

CHROMOSOMAL MUTATION

The chromosome of each individual has a characteristic morphology (Structure) and number.

But sometimes due to certain accident or irregularities at the time of cell division (errors

during meiosis or mitosis), crossing over or fertilization some alterations in the morphology or

number of chromosomes take place. The slightest variation in the organization of chromosomes

is manifested phenotypically and is of great importance. The changes in the genome involving

chromosome part, the whole chromosome or whole chromosome sets are called chromosomal

abbreviation or chromosomal mutation. It has prove to be of significance important in applied

Biology, agriculture and medicine. Chromosomal mutations are inherited once they occur and

are of the following types:

1. Change in the number of gene

a. Loss - Deletion

b. Additional- Duplication

2. Change in gene arrangements

a. Rotation of a group of gene 180* within one chromosome- inversion

b. Exchange of part between chromosome of different pairs: Translocation

B) Change in the number of chromosomes

1. Loss or gain of a part of chromosome set (Aneuploidy)

2. Loss or gain of whole chromosome set (Euploidy).

a. Loss of an entire set of chromosomes (Haploidy)

b. Addition of one or more chromosomes set (Polyploidy).

Both types of changes (structural or Numerical) in the chromosome can be detected not only

with microscope (Cytologically) but also by a standard genetic analysis. This gave birth to a

hybrid science called cytogenetics which attempt to correlate cellular events especially those

of chromosomes with genetic phenomena.

Polyploidy
Polyploidy is a condition of having three, four or more set of chromosomes instead of the two

present in diploid. Polyploidy is a term used to describe cell and organism containing more

than two pair of homologous chromosomes set. One set inherited from each parent, however,

Polyploidy is found in some organism and especially common in plant. Polyploidy originate

when gamete failed to separate during anaphase I of meiosis. The different kind of Polyploid

crops include:

1. Triploids 3x or 3n apple banana, citrus, ginger, watermelon.

2. Tetraploid 4x or 4n - Durum, or macaroni wheat, cotton, potatoes, cabbage etc.

3. Pentaploid 5x or 5n - Onion, Kenai birch(Betula papyrifera), Rosa canina

4. Hexaploid 6x or 6n - kiwi fruit, oat, bread wheat.

Octaploid 8x or 8n - strawberry, sugar cane.

Decaploid 10x or 10n - strawberry

Dodecaploid Celosia argentea, Spartina anglica.

Mechanism of Polyploidy

Polyploidy arise in nature when there is a mitotic and meiotic catastrophe, such as non-

disjunction causes the formation of gamate that has a complete set of duplicated chromosomes.

When a diploid gamete fuses with a haploids gamate a triploid is formed, when a diploid fuses

with another diploid a tetraploid is formed etc. Different species exhibit different level of

tolerance for Polyploidy, for example Polyploidy form at relatively high frequency in flowering

plants, suggesting that plants have high tolerance for Polyploidy. Higher vertebrates do not

tolerate Polyploidy very well.

Types of Polyploidy
There are two types of Polyploidy

1. Autopolyploidy

2. Allopolyploidy.

Autopolyploidy

This condition arises Naturally or artificially as a result of increase in the number of

chromosomes within the same specie. It is a Polyploidy with multiple set of chromosomes

derived from single species e.g autotriploid will have AAA, autotetraploid will have AAAA

Morphological features of autopolyploids

1. Pollen grains in autopolyploids are larger than in diploid

2. The cells of Polyploids contains more chloroplast

3. They generally show reduced fertility due to high irregularities during meiosis which causes

genotypic imbalance

4. Flowers are showery and larger than diploid

5. They have increased vigor and vegetative growth and so are larger than their diploid

counterparts.

Origin and production of autopolyploidy

under replication (During interphase) and the chromatids separate normally during anaphase

but the cytoplasm fail to cleave during cytokinesis, a tetraploid with larger nucleus is formed.

Artificially (Induced): It has been induced in many plant and animal cells by artificial means

such as chemical colchicine, radioactive substance etc. The inducer normally affect the mitotic

or meiotic spindles and cause non segregation of already duplicated chromosomes.

Allopolyploidy

Allopolyploidy is a Polyploidy with chromosome set derived from different species. Its also

the combination of set of chromosomes from different parents.

Origin and production of allopolyploidy

Allopolyploidy could arise in nature when there is formation and fusion of unreduced

functional gamate (generative allopolyploidization).

Allopolyploidy arising in nature were produced spontaneous by chromosome doubling in the

natural hybrid of two distinct species belongings to the same genus or different genera. The

chromosome doubling might occur in the Somatic cells (Somatic allopolyploidization).

Aneuploids

This is a condition that results either due to the loss of one or more chromosome (hypoploidy)

or due to the addition of one or more chromosome to the complete chromosome set

(hyperploidy). Hypoploidy is mainly due to the substraction (or loss) of a single chromosome

monosomy (2n-1) or due to the loss of a pair of chromosomes (2n-2). Hyperploidy may involve

addition of a single chromosome (2n+1) trisomy or a pair of chromosome called tetrasomy

(2n+2). In monoploid organism addition of a single chromosome produced disomy (n+1).

meiosis. If this occur both set of chromosomes pass to the same pole of the cell and separation

of the chromosome during anaphase II many leads to the formation of gamate cells containing

either one or more chromosome too many or too few.

STRUCTURAL CHANGES IN CHROMOSOMES

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

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

Depending upon the location, deletions are of two types, viz. terminal and interstitial.

Genetic Effects of Deletion

• The pollen fertility is reduced in the presence of deletion. Nonfunctional pollen may be

produced leading to a failure in fertilization.

• Crossing over is suppressed in the region of deficiency due to lack of corresponding

segment in the area of deletion.

• In the absence of a dominant gene in the deletion region, the recessive gene expresses

even in a single dose. This results in the change in phenotype. An example is a

syndrome called cat cry which results due to deletion in the short arm of chromosome.

Babies with such defect cry continuously like a cat.

gene number as well as karyotype of the individual is changed.

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 has

been reported in maize, wheat, barley, rice, Nicotiana, Tradescantia and several other species

of crop plants by various workers. Duplications are of four types, viz. tandem, reverse tandem,

displaced and reverse displaced.

Genetic Effects of Duplication:

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

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

• Crossing over is suppressed in duplicate region due to lack of corresponding duplicated

segment in the normal chromosome

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

reverse order. An inversion occurs when a single chromosome undergoes breakage and

rearrangement within itself. The inverted segment is rotated to a full 180° (Gardner et al.,

2011). Inversion was first discovered by Sturtevant in 1926 in Drosophila. Now it has been

reported in maize, Nicotiana and several other plants (Lowry and Willis 2010). Depending

upon whether centromere is involved or not, inversions are of two types; Paracentric and

Pericentric.

Paracentric Inversion.

The inversion in which centromere is not involved is called paracentric inversion. In this type

of inversion both breaks occur in one arm of the chromosome. When only one chromosome of

a homologous pair has inversion, it is called inversion heterozygote. Kirkpatrick (2010) opined

that when both the members of a homologous pair have similar type of inversion, it is called

inversion homozygote. Meiosis is normal in inversion homozygotes. Crossing over within the

inversion loop in a paracentric inversion heterozygote result in the formation of dicentric bridge

and an acentric fragment after exchange. The bridge is later on broken due to pull from both

the poles. The acentric segment is lost due to lack of movement. Thus out of four gametes, two

are normal and two deficient for some genes. Pericentric Inversion: When centromere is

involved in the inversion, it is known as pericentric inversion. When a break occurs in each

of the two arms of a chromosome, the centromere is included in the detached segment resulting

in a pericentric inversion. This usually results in a morphological change of the chromosome

due to change in centromere position and arm ratio. This kind of chromosome aberration can

easily be detected in the karyotype. Crossing over within the inversion loop results in the
formation of chromatids with duplication and deficiency. According to Ma and Amos (2012),

out of four chromatids two are crossover products and two are normal. One of the no crossovers

has original gene sequence and the other has inverted gene sequence.

Genetic Effects of Inversion:

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

A. Fertility: The crossing over in the inversion loop leads to formation of chromosomes

with duplications and deficiencies. Gametes with such chromosomes are inviable and lead to

50%

sterility.

B. 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.
C. Gene Order: The gene order is changed in the inverted segment of a chromosome.

Inversion heterozygotes exhibit a linkage map with different gene order. In inverted

chromosome there is no loss of genetic material provided crossing does not occur in the

inversion loop.

D. Karyotype: Pericentric inversions sometimes results in change of karyotype by shifting

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

of centromere.

Translocation

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

as translocation. Translocations have been reported in Datura, maize, Oenothera, bailey, rye,

wheat, Tradescantia, and several other crops by various researchers. Translocations are of three

types, viz: Simple, Shifts, and Reciprocal.

Genetic Effects of Translocation:

• Translocation leads to duplication and deletion of genes thereby leading to pollen and

ovule sterility.

• Crossing over is generally suppressed in translocated chromosomes probably due to

competition in pairing.

• Translocation brings changes in chromosome number and karyotype