CHAPTER 4

VARIATION IN CHROMOSOME
NUMBERS

NOOR ZUHAIRAH SAMSUDDIN

 AT THE END OF THIS LECTURE,
STUDENTS ARE ABLE TO
1. Define the term polyploidy, aneuploidy and
haploids
2. Discuss the variations in chromosome number in
plants.
3. Discuss the effects of polyploidy on plants.
4. Discuss the applications of aneuploidy.
POLYPLOIDY
 POLYPLOIDY
 Polyploid cells and organisms are those containing more than
two paired (homologous) sets of chromosomes.
 Most species whose cells have nuclei (eukaryotes) are diploid,
meaning they have two sets of chromosomes—one set inherited
from each parent.
 However, polyploidy is found in some organisms and is
especially common in plants
 Ploidy: Number of sets of chromosomes in the nucleus of a
biological cell (not the number of chromosomes)
 1 set monoploid (1x)
 2 sets diploid (2x)
 3 or more sets polyploids
 Triploids (3x)
 tetraploids (4x)
 Pentaploids (5x)
 Hexaploids (6x)
 Heptaploids, septaploids (7x)
 Octoploids (8x)
 Terminology
 Ploidy refers to the number of copies of the entire
chromosome set in a cell of an individual.
 The complete chromosome set is characteristic of, or
basic to, a species.
 A set of chromosomes (the genome) is designated by
“x”.
 Furthermore, the basic set is called the monoploid set.
The haploid number (n) is the number of chromosomes
that occurs in gametes.
 This represents half the chromosome number in somatic
cells, which is designated 2n. A diploid species such as
corn, has n=10 and 2n=20
 Also a diploid species has 2n=2x in its somatic cells
and n= x in its gametes.
 A species with a higher ploidy, for example
autotetraploid (four basic sets of chromosomes) has
somatic cells with 2n=4x and gametes with n=2x.
 For corn, for example, 2n=2x=20, while for wheat,
a hexaploid with 42 chromosomes and a basic set
of 7, 2n=6x=42.
 Sometimes species that have more than two
genomes comprise sets from different origins.
To distinguish the source, each genome is designated by a different letter. For
example, wheat has chromosome sets from three different origins and, hence,
has a genetic designation (genomic formula) of AABBDD (Figure 24.1).
PLOIDY OF COMMON CROPS
 To indicate the number of haploids derived from
individuals of different ploidy levels for a single
genome, a prefix is added to the term “haploid”’ to
denote the number of sets (x) of the basic genome
present.
 For example a monohaploid (n=1x) is derived from
a diploid, while a dihaploid (n=2x) is from a
tetraploid, and so on.
• In some species of higher plants, a pattern of ploidy emerges whereby
the gametic (haploid) and somatic (diploid) chromosome numbers
increase in an arithmetic progression,
• as illustrated by oats and wheat (Table 24.1). The set of species
displaying this pattern constitute a polyploid series.
Variations in chromosome number
 In nature, there exist two types of variation in chromosome
number.
1. Euploidy, the individuals contain multiples of the complete set
of chromosomes that is characteristic of the species (the basic
number, x).
2. Aneuploidy, individuals contain incomplete sets of
chromosomes that may be equivalent to the euploid number
plus or minus one or more specific chromosomes
Variations in chromosome number
 The state of having multiples of the basic set in the somatic cell in
excess of the diploid number is called polyploidy, and the
individuals with such cells, polyploids.
 Polyploids are euploids.
 When euploids comprise multiples of the genome (i.e.,duplicates of
the genome from the same species) they are called autoploids and
the condition autoploidy (or autopolyploidy).
 However, when a combination of genomes from different species are
involved, the term alloploid or allopolyploid (and, similarly,
alloploidy or allopolyploidy) is used.
 Alternatively, the term amphiploid or amphidiploid (and, similarly,
amphiploidy or amphidiploidy) is also used to describe polyploids
with different genomes.
Variations in chromosome number
 It should be pointed out that autoploidy and
alloploidy are extreme forms of polyploidy.
 Intermediates occur between them on a continuum
of genomic relationships.
 C.L. Stebbins called the intermediates segmental
alloploids.
 Polyploids are named such that the prefix to the standard suffix (ploid)
refers to the basic chromosome set (Table 24.3).
 For example “triploid” refers to a cell with three genomes (3x) while
“hexaploid” refers to a cell with six genomes (6x).
Common Applications of Ploidy in
Crop Plants
Significance of Polyploidy
 Polyploidy plays a significant role in plant breeding and horticulture.
 Polyploidy comprise more strong influence than the diploids and results
in the production of large sized flowers and fruits. Therefore, it has
economical significance.
 It plays important role in the evolution of new species.
 Polyploidy results in the changes in the season of fruiting and flowering.
 Polyploidy are strong invaders of new habitats.
 Polyploidy leads to the formation of new varieties that depict high
resistance to disease and increase in yield.
 Tetraploid cabbages and tomatoes consist of more ascorbic acid
whereas tetraploid corn consists of more vitamins A.
 Both euploidy and aneuploidy in man cause congenital diseases.
 Polyploidy varieties such as apple, pear, grape and watermelons are
cultivated due to their large size.
Video polyploidy
ANEUPLOIDY
ANEUPLOIDY VS POLYPLOIDY
TERMINOLOGY
 Aneuploidy - the abnormal condition were one or
more chromosomes of a normal set of chromosomes
are missing or present in more than their usual
number of copies
 Monoploidy - the loss of an entire set of
chromosomes
 Euploidy - an entire set of chromosomes is
duplicated once or several times
TERMINOLOGY
The different conditions of aneuploidy are:
1. Nullisomy - the loss of both pairs of homologous
chromosomes; individuals are called nullisomics and their
chromosomal composition is 2N-2
2. Monosomy - the loss of a single chromosome; individuals
are called monosomics and their chromosomal composition
is 2N-1
3. Trisomy - the gain of an extra copy of a chromosome;
individuals are called trisomics and their chromosomal
composition is 2N+1
4. Tetrasomic - the gain of an extra pair of homologous
chromosomes; individuals are called tetrasomics and their
chromosomal composition is 2N+2
 The origin of anueploidy. Abnormal disjunction may occur at the first meiotic
division (a)
or at the second meiotic division (b) producing gametes with a gain or loss in
chromosomes

Non-disjunction = failure of homologous chromosomes to separate, leading to unequal

distribution of chromosomes to opposite poles
SUMMARY
Haploid
Terminology
 Haploid = refers to those plants which possess a
gametophytic number of chromosomes (n) in their
sporophytes
 If successfully cultured (anther culture), the plantlets resulting will have a
haploid genotype.
 Haploid plantlets may arise directly from embryos or indirectly via callus
 To have maximum genetic variability in the plantlets, breeders usually use
anthers from F1 or F2 plants.
 Usually, the haploid plant is not the goal of anther culture.
 Rather, the plantlets are diplodized (to produce diploid plants) by using
colchicine for chromosome doubling.
 This strategy yields a highly inbred line that is homozygous at all loci after
just one generation.
 Methods used for breeding self-pollinated species generally aim to
maintain their characteristic narrow genetic base through repeated selfing
over several generations for homozygosity.
 The idea of using haploids to produce instant homozygotes by artificial
doubling has received attention.
Haploids may be produced by one of
several methods:

 Anther culture to induce androgenesis.

 Ovary culture to induce gynogenesis.
 Embryo rescue from wide crosses.
Gynogenesis = un-pollinated flower parts, such as ovules, placenta attached
ovules, ovaries or whole flower buds.
Androgenesis= from male gametic cells
Application of haploid
1. Development of new cultivars.
 Through diplodization, haploids are used to generate instant homozygous
true breeding lines.
 It takes only two seasons to obtain doubled haploid plants, versus about
seven crop seasons using conventional procedures to attain near
homozygous lines.
 The genetic effect of doubling is that doubled haploid lines exhibit
variation due primarily to additive gene effects and additive x additive
epistasis, enabling fixation to occur in only one cycle of selection.
 Heritability is high because dominance is eliminated.
 Only a small number of doubled haploid plants in the F1 is needed, versus
several thousands of F2 for selecting desirable genotypes.
Application of haploid
2. Selection of mutants.
 Androgenic haploids have been used for selecting especially recessive
mutants.
 In species such as tobacco, mutants resistant to methionine analogue
(methionine sulfoxide) of the toxin produced by Pseudomonas tabaci have
been selected.
Application of haploid
3. Development of supermales in asparagus.
Haploids of Asparagus officinalis may be diplodized to produce homozygous
males or females.