Chapter VIII

MUTATIONS
Mitch B. Forbes
BS Biology IV - A

Mutation
are changes in the organism that are

heritable and essentially permanent.

the changing of the structure of a gene,
resulting in a variant form that may be
transmitted to subsequent generations,
caused by the alteration of single base
units in DNA, or the deletion, insertion, or
rearrangement of larger sections of genes
or chromosomes.

A. Variation in the Genome

Structure or Numerical
Changes of the Chromosomes

Changes in chromosome number can occur

by the addition of all or part of a chromosome
(aneuploidy), the loss of an entire set of
chromosomes (monoploidy) or the gain of one
or more complete sets of chromosomes
(euploidy). Each of these conditions is a
variation on the normal diploid number of
chromosomes.

1. Euploidy
refers to the changes involving the whole

genome or the entire set of chromosomes

Polyploids are organisms with the cell
containing three or more sets of
chromosomes or genomes.
When polyploidy is due to the multiplication
of one basic genome, it is called
autopolyploidy.
Allopolyploids, on the other hand, are
those in which the genomes making up the
multiple sets are not identical. Examples of
the basic types of euploids are:

Autopolyploidy:
Triploids

(3x) bananas, hyacinths, winesap

apples, European pears
Tetraploids (4x) potato, alfalfa, coffee,
peanuts
Allopolyploidy: (examples)
a) Nicotiana tabacum L. (Tobacco) (2n = 48)

P1 & P2: Nicotiana sylvestris x N. tomentosiformis

(ss; 2n = 24)
(tt; 2n = 24)
F1: 24 I (12 Is + 12 It) : Sterile
Chromosome
Doubling of F1: 24 II (12 IIs + 12 IIt ) : Fertile
= Nicotiana tabacum L. (2n = 48)

b) Raphanobrassica is an experimental

allotetraploid produced by G.D. Karpechenko in

1927 by hybridizing radish (Raphanus sativus
L.) with cabbage (Brassica oleracea).

P1 & P2: Raphanus sativus x Brassica oleracea

(RR; 2n = 18)
(BB; 2n = 18)
F1:
18 I (9 IR + 12 IB) : Sterile
Chromosome
Doubling of F1: 18 II (9 IIR + 9 IIB) : Fertile
Phenotype:
cabbage

Head of radish and root of

Allohexaploid: (example)

Triticuum aestivum (Bread Wheat) (2n =

42)
P1 & P2: Triticum monococcum x Aegilops speltoides
(AA; 2n = 14)
(BB; 2n = 14)
F1: 14 I (7 IA + 7 IB) : Sterile
Chromosome
Doubling of F1:
14 II (7 IIA + 7 IIB) : Fertile =
Triticum dicoccum (2n = 28)
T. dicoccum
x
Aegilops squarrosa
(AABB; 2n = 28)
(DD; 2n = 14)

F1:
21 I (7 IA + 7 IB + 7 ID) : Sterile
Chromosome
Doubling of F1: 21 II (7 IA + 7 IB + 7 ID) : Fertile
= Triticum aestivum (2n = 42)

Table of Variations in Chromosome Number

(Basic Chromosome Number = 4)
Type
Monoploid

Formu
Chromosome Complement
la
n
(ABCD)

Diploid

2n

(ABCD) (ABCD)

Autotriploi
d

3n

(ABCD) (ABCD) (ABCD)

Autotetrapl
oid

4n

(ABCD) (ABCD) (ABCD) (ABCD)

Allotetrapl
oid

4n

(ABCD) (ABCD) (MNOP) (MNOP)

The Origin and Relationships of

Different Polyploids

Polyploidy
Polyploidcells and organisms are those

containing more than two paired

(homologous) sets of chromosomes.
Polyploidy is a common occurrence in
plants --- at least 47% of all angiosperm
species are polyploids. Also, about 70% of
the grasses are polyploids.
Extremely rare among sexually reproducing
animals.
Most polyploids that have been established
in nature reproduce parthenogenetically.

Physical Characteristic of Polyploids

Autopolyploids
The physical characteristics of

autopolyploids may be quite distinct from

their diploid progenitors. Among the more
common physical characteristics are:
a) Increased individual cell size, although this

increase may not extend to the tissues and

organs;
b) Slower growth rate and later maturity than
diploids;
c) Thicker leaves, larger and fewer flowers and
larger fruits than diploids;

 Reduced fertility n varying degrees ( the reduction

in the fertility due to meiotic abnormalities,

especially that on homologous paiing, of the
autoplyploids during gamete formation.) and
Existence, in general, of an optimum range of
polyploidy beyond which growth may be depressed
with increasing chromosome number.
Chromosome Number
Plant Height
For example,
the chromosome number
and the plant
3n
60
height in timothy
plants are given below.79
4n
5n

105

6n

124

7n

128

8n

135

9n

143

10n

143

11n

117

12n

85

13n

50

Allopolyploids
Allopolyploids are fertile and they possess many
of the physical characteristics of the
autopolyploids. Allopolyploidy has been
responsible for the formation of new species
Example
Wheat
Tobacco
Raphanobrassica

2. Aneuploidy
occurs when one or more chromosomes of

a normal set (genome) are lacking or are

preset in excess.
. The nuclei, therefore, will contain

chromosomes whose numbers are not

multiples of genome. In other words, the
aneuploids are characterized by incomplete
genomes

Types of Aneuploidy
Type
Monosomic
Nullisomic
Double Monosomic
Trisomic
Tetrasomic
Double Trisomic

Formula
2n-1
2n-2
2n-1-1
2n+2
2n+2
2n+1+1

B. Changes in Chromosome Structure

or Chromosomal Aberrations

Changes in the genetic information may

also be caused by the changes in

chromosome structure.
Structural aberrations are caused by breaks
in the chromosome or the chromatid. Each
break produces two ends, which may then
follow three alternative paths.
1. Broken ends may remain ununited, leading to

eventual loss of the segment which does not

include the centromere.
2. Same broken ends may reunite or restitute
immediately.
3. Broken ends ma join those produce by a
different break, causing an exchange or a
nonrestitutional union.

Deficiencies or Deletions
Represents a loss of a segment of the

chromosome

The genetics effects of deficiencies

include the following:
Deficiencies for a considerable number of

loci result in lethality.

Non-lethal deficiencies may result I
pseudo-dominance.
Crossing-over is completely absent in the
deficient region.
Deficiencies may produce unique
phenotypic effect of their own.

Following are some example of

chromosomal deficiencies in man:
Philadelphia 22 chromosome is a deficiency

for a large portion of the long arm

chromosome 22. It is associated with
chronic myeloid leukemia.
Cri-du-chat syndrome is a deletion in the
short arm of chromosome 5. It is
distinguished by cat-like cry during infancy,
unique facial features and various forms of
physical and mental retardation.

Duplications or Repeats
occur when a

section of the
chromosome is in
excess of the normal
amount. The
repeated section of
chromosomal
material may be
present in one pair
of homologous
chromosomes or
may have been
transposed to a

The genetic effects of duplications include

the following:
Duplications of recessive alleles produce

wild type phenotypes, e.g., duplications of

vermilion (v) allele in Drosophila produced
the wild type phenotype.
Complementary genes or multiple factors,
which affect the same character, are
believed to have arisen initially as
duplications of single genes.

Inversion
is the rotation of the chromosomes

segment to a full 180 degrees

There are two types of inversion --paracentric and pericentric inversion.
a) Paracenric inversion occurs when the

centromere is not included in the inverted

segment.
b) Pericentric inversion occurs when the
inverted segment includes the centromere.

There are three

genetic
consequences of
inversions
1. Inversion

homozygotes have
normal behavior,
with complete
fertility but with a
new linkage order.
2. Inversion
heterozygotes are
partially or
completely sterile.
3. Crossing-over is

Interchange or Reciprocal
Translocation
Translocation occurs when single breaks

into two nonhomologous chromosomes

produce an exchange of chromosome
sections between them.

The following are the genetic consequences

of reciprocal translocation:
In homozygotes, there will be altered linkage

associations for the genes contained in

exchange segments.
In heterozygotes, partial sterility occurs and
this is due to chromosome segregation during
Anaphase I, whereby gametes with duplication
and deficiencies of some loci are produced.
Such gametes may be lethal.

C. Gene Mutation

Gene Mutation
The only consistent link between

generations of cells in DNA and, therefore,

any mutation is basically a change in DNA.
Anyone of the four nitrogen bases of the
DNA renders itself to changes that could
alter the DNA molecule.
is a permanent alteration in the DNA
sequence that makes up a gene, such that
the sequence differs from what is found in
most people.
Mutations range in size; they can affect
anywhere from a single DNA building block
(base pair) to a large segment of a

Microlesions: Base Pair Substitution

This mutation involves only one nucleotide pair,

meaning, there is only one nucleotide pair

difference between the wild type and the mutant
allele.
Transition mutation is the substitution of a purine

with another purine or a pyrimidine with another

pyrimidine, e.g., adenine by guanine or thymine by
cytosine.
Transversion mutation is the substitution of purine
by pyrimidine or vice versa, e.g., guanine b.y
cytosine or thymine by adenine.

Frameshift Mutations
Addition or deletion of single nucleotide or few

nucleotides causes frameshift mutation. During

the reading of the genetic message, Crick, et
al. proposed that the reading started from a
fixed point. An insertion or deletion of one or
two nucleotide pairs would produce a shift in
the reading frame and such shift would result
in mutation.
Frameshift mutation occurs most frequently
regions where a monotonous DNA sequence,
such as AAAAAA in one strand of TTTTTT in the
other. Somehow this favors stuttering in the
process of DNA synthesis, leading to addition

Mutator Genes
In addition to physiological factors, it was

observed that mutation rate frequently might

be attributed to specific mutator genes.
Mutator genes were observed in a variety of
organisms, including prokaryotes. Many of
these are believed to be associated with DNA
polymerase or similar enzymes involved in DNA
replication and repair.
The total mutation rate is increased several
times.

Transposons or Jumping Genes

Atransposable element(TEortransposon) is

aDNA sequencethat can change its position within

agenome, sometimes creating or
reversingmutationsand altering the cell'sgenome
size.
Barbara McClintock studied in 1951 the movable
genetic elements in corn, now referred to as the Ac-Ds
system.
If these two loci become dissociated from each other,
the mutant cell and all its daughter cells containing
the remaining locus are colored. The locus removed is
called Dissociation (Ds) gene on chromosome 9. This
gene can cause breakage in chromosome regions near
it.

The following are the properties of the Ds

gene:
1. If Ds is never dissociated with the

adjacent locus, the kernel is white.

2. If it is dissociated during kernel formation,
the kernel has colored sectors or dots on a
white background.
3. If it is dissociated before kernel formation,
the kernel and later generation of plants
are completely colored.

McClintock further observed that Ds were only

active in the presence of an Activator (Ac)

gene that could be located on any of the other
chromosomes.
One special attribute of Ds and Ac is their
transposibility.