LECTURE-7 & 8

PART- I CYTOGENETICS
CHANGES IN CHROMOSOME
NUMBER
Changes in chromosomal number

1. Types
2. Origin
3. Detection – cytological
4. Detection – genetic
5. Evolutionary significance
 Changes in chromosomal number
Types

Ploidy

Euploidy Aneuploidy

Allopolyploidy Hyperploidy Hypoploidy

Autopolyploidy

Hyperploidy- having a chromosome number that is more than a multiple of the haploid number e.g. Down
syndrome. Hypoploidy- having a chromosome number that is less than a multiple of the haploid number.
 Changes in chromosomal number
Euploidy - definitions

Euploidy

Definition: Whole number replication of the basic chromosome number.

Autopolyploidy = replicating genomes (basic chromosome sets)

are identical

Allopolyploidy = replicating genomes (basic chromosome sets)

are different from one another
Changes in chromosomal number
Autopolyploidy -origin
AUTOPOLYPLOIDY

a) Misadventures in meiosis: formation of unreduced gametes

Changes in chromosomal number
Autopolyploidy -origin
b) Non-disjunction in Mitosis

c) Artificial induction using colchicine.

Cotton swab soaked in colchicine (disrupts the spindle fibres in mitosis).
Changes in chromosomal number
Cytological detection autopolyploids

Cytological Detection- autopolyploids

1. Karyotypes would reveal extra set of chromosomes

2. Meiotic metaphase will reveal quadrivalents. Depending on the number

and position of chiasmata ring structures and chain structures can
be seen during anaphase of meiosis-1
 Changes in chromosomal number
Genetic detection of autopolyploids
Genetic Detection- autopolyploids
1. Partial sterility in tetraploids
Tetraploids produce bivalents (fertile) or quadrivalents. Quadrivalents may
undergo unequal disjunction during meiosis resulting in sterile gametes.

Over evolutionary time natural selection selects for more fertile types
through:
(a) the evolution of asynaptic genes which prevent quadrivalent
formation, and hence greater bivalent formation and balanced
segregation is facilitated leading to lowered sterility.

(b) evolution of a mechanism that allows quadrivalents to undergo

balanced 2:2 segregation to yield fertile gametes.
 Genetic Detection- autopolyploids
Homologous chromosomes

2,2

0,4

3,1
1,3

DISJUNCTION DURING MEIOSIS-1 (AUTOTETRAPLOID)

 Changes in chromosomal number
Genetic detection of an autopolyploid
2. Full sterility in triploids

Triploids routinely form trivalents and unbalanced segregation leading to

complete sterility. Univalents and bivalents can occasionally form.
3. Gigantism
Autopolyploids because of the duplicated genome, would have extra
copies of genes. The cell, stomata size and fruit size are larger.

The plants show gigantism and increased vegetative vigour.

Commercially this is beneficial in ornamental crops since resources are not depleted by
seed production- longer bloom life.

Tetraploid banana has larger bunches, tetraploid grapes and water melons are much
larger. Tetraploid pastures produce more dry matter.
Changes in chromosomal number
Genetic detection of autopolyploids

4. Recessive alleles are hidden

There are more alleles per gene hence dominant alleles can
mask the recessive allele. There is lower genetic load.

Genetic load
The genetic load equals the relative chance that an average individual
will die before reproducing because of the deleterious genes that it
possesses. It takes a value between 0 – 1.

In other words, the extent to which the average individual

in a population is inferior to the best possible kind of individual.
Changes in chromosomal number
Evolutionary significance of autopolyploids

Autopolyploids
- disadvantages in seed crops since they are partially sterile
with lower levels of seed set than diploids
- Advantageous in vegetatively propagated crops due to
increased vegetative vigour than diploids
- more alleles per gene, lower genetic load, greater heterosis
- Less seeds so sequester resources to vegetative matter
- Hence most autopolyploids in nature are vegetatively
propagated plants
- Autopolyploidy also provides an escape mechanism for
self-incompatible plants to become self-compatible
(self-compatibility ensures greater adaptability to a specific environment)
Changes in chromosomal number
Advantages of autopolyploids in agriculture

1. Triploids produce seedless fruits

e.g. seedless watermelon, seedless apples

Triploid fish are used to clear waterways of waterweeds.

The fish cannot multiply and overpopulate the waterways. They are sterile!!!

Triploid Grass carp

Changes in chromosomal number
Advantages of autopolyploids in agriculture

2. Fruit crops
In grapes, tetraploids produce
larger fruits with fewer seeds.

In apple, triploids produce larger

seedless fruits.

Triploid bananas are larger than

their diploid counterparts. But
tetraploids produce smaller
irregular bunches. Optimum
ploidy is triploid.
Changes in chromosomal number
Advantages of autopolyploids in agriculture
3. Forage crops
- Greater DRY MATTER yields,
- Better ratoons,

eg. clover, napier grass,

Changes in chromosomal number
Advantages of autopolyploids in agriculture
4. Ornamental crops
- larger blooms
- longer blooming times
- improved vase-life
Changes in chromosomal number
Allopolyploidy origin
ALLOPOLYPLOIDY
Allopolyploids originate by interspecific hybridization (crosses
between closely related species) followed by doubling and
diplodization.

Diplodization- behaves like a diploid- fully fertile.

Changes in chromosomal number
Allopolyploid origin – eg. wheat
Changes in chromosomal number
Allopolyploid origin – e.g. kale, mustard greens, oil rape
Black mustard
Brassica nigra
(bb)
n=8

B. carinata B. juncea Mustard greens

(bbcc) n =17 aabb n = 18
Ethiopian Kale

B.oleracea B. campestris
(cc) n = 9 B. napus (aa) n =10

Cabbage aacc (n=19)

Broccoli turnip
Oil rape
Cauliflower
Origin of bananas
Musa acuminata (AA) x=11
- Originated in Malaysia
- Diploid dessert banana- soft and sweet
- eg. Variety sucrier
- Autopolyploidy AAA Gros Michel

Musa balbisiana (BB) x = 11

- Originated in South India
- hard starchy type
- Capable of withstanding drought, diseases
- Plantains arose by interspecific hybridization
between AA and BB
 Polyploid series in banana
Musa acuminata Musa balbisiana
(A genome) x (B genome)
AA Sucrier BB
Autopolyploidy

A B

AB
Allopolyploidy
AAA AAB ABB or ABBB
Gros Michel Silk, Mysore Plantain type
Lacatan Cooking banana
Cavendish
Changes in chromosomal number
Cytological detection allopolyploids

Cytological Detection

Allopolyploids are difficult to detect cytologically since they behave

like diploids.
Changes in chromosomal number
Genetic detection of allopolyploids

Genetic Detection

i) Permanent hybridity:
Brings novel features from two species.
Greater evolutionary flexibility and genetic buffering.

ii) Very low levels of sterility (Diplodization)

Diplodization is a long-term diploid differentiation process
through adaptive adjustment of duplicate loci and accumulation
of differences between homeologous chromosomes.
Changes in chromosomal number
Evolutionary significance of allopolyploids

1. Allopolyploids lead to instant speciation

- When an allopolyploid is derived it cannot mate and produce progenies
successfully with either of the two parental species from which it was derived.

- Hence based on the biological species concept allopolyploids are instant

separate species.

- Allopolyploids follow different evolutionary paths from their parents

What is the biological species concept?

This concept defines a species as groups of interbreeding natural
populations that are reproductively isolated from other such groups.
Changes in chromosomal number
Evolutionary significance of allopolyploids

2. Allopolyploids lead to accretion of genomes

They combine the genomes of various species to form larger more complex
genomes.

E.g. Wheat is formed by the accretion of three genomes: A, B and D.

Most evolutionary biologists believe that allopolyploidy has been an integral part
of genome evolution that has lead to increasingly larger genomes.

Accretion of genome provides the organism with greater environmental flexibility.

 Changes in chromosomal number
Evolutionary significance of allopolyploids

Upon diplodization, allotetraploids behave like diploids- called

amphidiploids.

3. Amphidiploids are fully fertile and vigorous

Amphidiploids unlike autopolyploids are fully fertile and also are more vigorous
due to the same reasons as an autopolyploid.

Hence it provides them the competitive advantage over diploids

Changes in chromosomal number
Evolutionary significance of allopolyploids

4. Deleterious recessives are masked in allopolyploids

The genetic load is low in the population because the recessive alleles are
masked.

5. Greater genetic variation

Genetic variation is the raw material that fuels evolution. Greater the variation,
greater the resource pool from which individuals can acquire gene combinations to
survive. Provides greater environmental flexibility.
Changes in chromosomal number
Evolutionary significance of allopolyploids

Cytogenetic analysis shows that most species previously thought to be

diploids have an allopolyploid ancestry.

e.g. of allopolyploids include

- Wheat, cotton, tobacco, triticale, okra, yam, hybrid roses

Triticale: hybrid of wheat and rye

Changes in chromosomal number
Aneuploidy

Euploidy
More than the diploid number
Polyploidy hyperploidy trisomics, double trisomic,
Aneuploidy tetrasomic

Less than the diploid no.

hypoploidy
nullisomic, monosmic
double monosomic

Monosomic 2X-1 Trisomic 2X+1

Nullisomic 2X-2 Tetrasomic 2X+2
Double monosomic 2X-1-1 Double trisomic 2X+1+1
Changes in chromosomal number
Aneuploidy 2N + 1 + 1 = double trisomic

d
Changes in chromosomal number
Aneuploidy

Turner’s syndrome (2n-1) - the 45, X karyotype is a

monosomic. Phenotypically female, but sterile.

Down syndrome- trisomy 21 = (2n + 1)

The animal kingdom, generally doesn’t tolerate polyploids.

Macromutations generally result in embryo abortion.