MUTATIONS

MUTATIONS
- Are changes in the organism that are
heritable and essentially permanent.

- Mutations result from damage to DNA

which is not repaired.
 CAUSES OF MUTATIONS
1. DNA fails to copy accurately
- This is "naturally-occurring."
2.External influences can create mutations
- Mutations can also be caused by exposure to specific chemicals or
radiation. These agents cause the DNA to break down. This is not
necessarily unnatural.

❖ A chromosome anomaly or mutation is a missing, extra, or irregular

portion of chromosomal DNA. There are many types of chromosome
anomalies. They can be organized into two basic groups. The:

1) NUMERICAL

2) STRUCTURAL
 A. NUMERICAL CHANGES OF THE
CHROMOSOMES

1. EUPLOIDY
- refers to the changes involving the whole genome or the
entire set of chromosomes.

Variations in chromosome number (basic chromosome number = 4: 1, 2, 3 and 4).

Type Formula Chromosome Complement

Monoploid n (1234)
Diploid 2n (1234) (1234)
Autotriploid 3n (1234) (1234) (1234)
Autotetraploi 4n (1234) (1234) (1234) (1234)
d
Allotetraploid 4n (1234) (1234) (5678) (5678)
❖POLYPLOIDS

-organism with the cells containing three or more sets of chromosomes

or genomes.

-is found in some organisms and is especially common in plants.

 BASIC TYPES OF EUPLOIDS

1. AUTOPOLYPLOIDY

2. ALLOPOLYPLOIDY
1. AUTOPOLYPLOIDY
- all the chromosomes within an individual come from the same
species.

- have uneven chromosome numbers due to mutation.

- the offspring is usually STERILE.

❖ TRIPLOIDS-
having three times the haploid number of chromosomes.
(3x) - bananas, hyacinths, wine sap apples, European pears

❖ TETRAPLOIDS-
having four times the haploid number of chromosomes.
(4x) - potato, alfalfa, coffee, peanuts
2. ALLOPOLYPLOIDY
- having more than two haploid sets of chromosomes that are dissimilar
and derived from different species.
- the offspring is usually fertile.
- occurs mainly in plants.

❖ ALLOTETRAPLOID- refers to an organism that

contains four complete copies of the genome, but two of the copies
are from a different species than the other two copies.
e.g.,( tobacco) 2n= 48
a.) NICOTIANA TABACUM L. ( tobacco) 2n= 48
P1 and P2: Nicotiana sylvestris x N. tomentosiformis
(SS; 2n=24) (TT; 2n=24)
Chromosome
Configuration: 12 IIˢ 12 TTᵀ

Gametes: 12Iˢ 12Iᵀ

F1: 24 I ( 12Iˢ + 12 Iᵀ) : Sterile

Chromosome
Doubling of F1 : 24 II ( 12 IIˢ + 12 IIᵀ) : Fertile
= Nicotiana sativus L. (2n=48)
b.) RAPHANOBRASSICA - is an experimental allotetraploid
produced by G.D. Karpechenko in 1927 by hybridizing raddish
(Raphanus sativus L.)

P1 and P2: Raphanus sativus x Brassica oleracea

(RR; 2n=18) (BB; 2n=18)
Chromosome
Configuration: 9 IIᴿ 9IIᴮ

Gametes: 9 Iᴿ 9 Iᴮ
F1: 18 I (9 Iᴿ + 9 Iᴮ) : Sterile

Chromosome
Doubling of F1: 18 (9 IIᴿ+ 9 IIᴮ) : Fertile
Phenotype: Head of radish and root of cabbage
❖ ALLOHEXAPLOID- Comprising six basic sets of
chromosomes and one or more sets derived from a different species.
Triticum aestivum ( bread wheat) 2n=42
Triticum monococcum x Aegilops speltoides
(AA; 2n=14) (BB; 2n=14)
Chromosome
Configuration : 7 IIᴬ 7 IIᴮ
Gametes: 7 Iᴬ 7 Iᴮ
F1: 14 II (7 Iᴬ + 7 Iᴮ) : Sterile

Chromosome
Doubling of F1: 14 II ( 7 IIᴬ + 7 IIᴮ) : Fertile
= Triticum dicoccum (2n=28)

Triticum dicoccum x Aegilops squarrosa

(AABB; 2n=28) (DD; 2n=14)
Chromosome
Configuration: 14 II (7 IIᴬ + 7 IIᴮ) 7 IIᴰ
Gametes: 7 Iᴬ + 7 Iᴮ 7 Iᴰ
F1: 21 I ( 7 Iᴬ+7 Iᴮ+7 Iᴰ) : Sterile

Chromosome
Doubling of F1: 21 ( 7 IIᴬ+ 7 IIᴮ+ 7 II) : Fertile
= Triticum aestivum (2n=42)
❖ Polyploidy is a common occurrence in plants at least 47% of all
angiosperms species are polyploids. Also, about 70% of the grasses
are polyploids.

❖ Polyploidy is extremely rare among sexually reproducing animals.

This is probably because the chromosome balance of sex
determination is upset in polyploids.

❖ Animals are generally cross- fertilized. Therefore, a newly formed

animal cannot reproduce by itself.

❖ Most polyploids that have been established in nature reproduced

parthenogenetically.
 PHYSICAL CHARACTERISTICS
OF POLYPLOIDS

a) Increased individual cell size, although this increase may not extend
to tissue and organs;
b) Slower growth rate and later maturity than diploids;
c) Thicker leaves, larger and fewer flowers and larger fruits than
diploids;
d) Reduced fertility in varying degrees( The reduction in fertility is due
to meiotic abnormalities, especially that on homologous pairing of
the autopolyploids during gamete formation); and
e) Existence, in general, of an optimum range of polyploidy beyond
which growth may be depressed with increasing chromosome
number.
 THE CHROMOSOME NUMBER AND
PLANT HEIGHT IN TIMOTHY PLANTS

Chromosome number Plant Height (cm)

3n 60
4n 79
5n 105
6n 124
7n 128
8n 135
9n 143
10n 143
11n 117
12n 85
13n 50
❖ALLOPOLYPLOIDS
on the other hand, are fertile and they possess many of the
physical characteristics of the autopolyploids. Allopolyploidy has been
reponsible for the formation of new species, e.g., wheat, tobacco, and
Raphanobrassica.

❖SEGREGARTION AND LINKAGE IN POLYPLOIDS

• the presence of extra chromosomes in polyploids affect the
genotypic and phenotypic ratios of the progeny.
• crossing-over in the polyploids is more complicated compared to
that in the diploids.
• In an autotetraploid, for example there are four homologous which may
segregate during meiosis as univalents, bivalents, trivalents, or
quadrivalents.
• Since crossing-over is associated with homologous pairing, the
frequency of recombinant classes in the autotetraploid depends upon
likage distance and the distribution of the different genes among the
four chromosomes and their mode of segregation
❖ Products that show no recombination ( e.g., aB/an → ab; aB) as well
as crossover products which are recombinants ( e.g., Ab/aB→AB;ab).
On the other hand, if univalents, trivalents and quadrivalents are also
formed, the frequency of recombination is further obscured since some
combination may or may not produce obvious crossover products.

❖ Linkages relations in polyploids are not the same as diploid. For

example, in triploids, the small linkage distances in the diploids are
inreased while the large distances are decreased.
2) ANEUPLOIDY
- occurs when one or more chromosomes of a normal
set are lacking or are present in excess. The nuclei,
therefore, will contain chromosome whose number
are not multiples of the genome. In other words, the
aneuploids are characterized by incomplete genomes.

❖ In humans, an example of a condition caused by a

numerical anomaly is Down Syndrome, also known as
Trisomy 21.
Trisomy has been determined to be a function of maternal
age.
❖ A genetic disorder caused by the presence of all or part of a third copy
of chromosome.
It is typically associated with physical growth delays, characteristic facial
features, and mild to moderate intellectual disability. The average IQ of a
young adult with Down syndrome is 50, equivalent to the mental age of
an 8- or 9-year-old child, but this varies widely.
B. Changes in Chromosome Structure of
chromosomal Aberrations

 Changes in the genetic information may also be caused by

the changes in chromosome structure. In these cases the
chromosome number remains the same but its genetic
material becomes altered through loss, gain or
rearrangement of particular sections. Structural aberrations
are caused by breaks in the chromosome or the chromatid.
 Each break produces two ends, which may then follow
three alternative paths.

 Broken ends may remain un-united, leading to eventual loss of the segment
which does not include the centromere.

 Same broken ends may reunite or restitute immediately.

 Broken ends may join those produced by a different break, causing an

exchange.

 A wide variety of structural changes are possible depending on the number

of breaks, their locations and pattern in which broken ends are joined.
 1.Deficiencies or deletions- represent a loss of a segment of the
chromosome.

 The genetic effects of deficiencies include the following:

 deficiencies for a considerable number of loci result in lethality.

 non- lethal deficiencies may result in pseudo-dominance.

 crossing-over is completely absent in the deficient region .

 deficiencies may produce unique phenotypic effects of their own.

2.Duplications or Repeats

Occur when a section of a chromosome is in excess of

the normal amount. The repeated section of the
chromosomal material may be present in one pair of
the homologous chromosomes or may have been
transposed to a non homologue, or may even
independently with its own centromere.
 3.Inversion- is the rotation of a chromosome segment to a
full 180 degrees

Two types of inversion:

a. Paracentric inversion – occurs when the

centromere is not included in the inverted segment.

b. Pericentric inversion - occurs when the inverted

segment includes the centromere.
 4.Interchange or reciprocal translocation

 Occurs when single breaks in two non homologous

chromosomes produce an exchange of chromosome sections
between them.
GENE MUTATION
- mutation due to fundamental intramolecular
reorganization of a gene ------ compare point
mutation.
DNA
 The only consistent link between generations of cells,
therefore, any mutation is basically a change in it.
 Any of its four nitrogen bases render itself to changes
that could alter its molecule.
 The changes can be classified according to the exact
nature of the difference between the mutant form of
the gene and the wild type.
 These changes alter the sense of the gene.
1. MICROLESIONS:
BASE PAIR SUBSTITUTION

 It involves only one nucleotide pair, which means,

there is only one nucleotide pair difference between the
wild type and the mutant allele.
Transition Mutation
- substitution of a purine with another purine or a
pyrimidine with another pyrimidine. (e.g., adenine by
guanine or thymine by cytosine)
Transversion Mutation
- substitution of a purine by a pyrimidine or vice
versa. (e.g., guanine by cytosine or thymine by adenine)
TRANSITION & TRANSVERSION
For both transition and transversion mutations, a base
substitution, which leads to a new nucleotide sequence,
is produced.
The new sequence will be perpetuated in the
subsequent generations, giving rise to a new mutant
cell lineage.
Transversion Mutation: Sickle Cell Gene
Glutamic Acid (GAA & GAG) Valine (GUA & GUG)
A=T
Transition Mutation: Tautomeric Shift
- originally suggested by Watson & Crick in 1953
2. FRAMESHIFT MUTATIONS
 Caused by an addition or deletion of a single
nucleotide or a few nucleotides.
 Occurs most frequently in regions where there is a
monotonous DNA sequence, such as AAAAAA in one
strand and TTTTTT in the other.
 This somehow favors “stuttering” in the process of
DNA synthesis, leading to addition or deletion of one
or more bases.
3. MUTATOR GENES

 Observed in a variety of organisms, including

prokaryotes.
 Many are believed to be associated with DNA
polymerase or similar enzymes involved in DNA
replication and repair.
4. TRANSPOSONS OR
JUMPING GENES
Barbara McClintock - studied the movable genetic
elements in corn, now referred to as Ac-Ds system in
1951.
- observed that some plants had white
kernels, others had colored and others had white with
colored speckles.
- she later found out that the phenotype
was the result of the presence of two closely adjacent
genes.
Dissociation (Ds Gene) - locus removed
- can cause breakage in chromosome
regions near it.
5/9/2023
PROPERTIES OF THE DS GENE

1. If Ds is never dissociated from the adjacent locus,

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 the later generation of plants are completely
colored.
Activator (Ac Gene) - enables the Ds to be active
according to McClintock.

5/9/2023
HYBRID DYSGENESIS
 Similar systems exist in Drosophila.
 High mutability and chromosome breakage are
induced by elements that are capable of moving
around the genome, much as transposons do.
 The rate is much higher than mutation by at least one
hundred times.

5/9/2023
D. REVERSE/BACK MUTATION
• A rarer mutational event is one in which the
Reverse mutation, also called reversion, denotes any
mutational process or mutation that restores the wild-
type phenotype to cells already carrying a phenotype-
altering forward mutation.
• Forward mutations confer a gene sequence and
phenotype different from that conferred by the wild-
type gene (Rosenberg, 2013).wild type.
• The occurrence of reverse mutation helps
distinguish point mutations from large mutational
events like deletions. This is because in the case of
deletions, a reverse mutation restoring the exact
portion of the genetic material is not possible. On
the other hand, a point mutation caused by a small
chemical change (e.g., base substitution) with out a
significant gain or loss of genetic material would
be more easily reversible. Reverse mutations,
therefore, rule out deletions or insertions.
MUTAGENIC AGENTS
A mutagen is a chemical or physical agent that
has the ability to change our genetic code in a
harmful way. may be specific in certain cases or
general in others.