NUMERICAL CHANGES OF CHROMOSOMES AND
IT’S BEHAVIOUR
Dr. UJJAL KUMAR NATH
ASSOCIATE PROFESSOR
BANGLADESH AGRICULTURAL UNIVERSITY
MYMENSINGH
ujjalnath@[Link]
NUMERICAL CHANGES IN CHROMOSOME
Euploidy vs Aneuploidy
Euploid: Individual with one complete chromosome set or
with multiples of the basic number of chromosomes
characteristic of the species.
Aneuploid: Individual with one or more whole
chromomsomes in addition to the euploid complement or
missing from the euploid complement
The n vs x concept
n:gametic number of chromosomes (akin to the
complexity of the genome)
2n: zygotic or somatic number of chromosomes
x: basic number of chromosomes, with respect to a
common ancestral species ie. x is the "original" set of
chromosomes, from which contemporary species are
derived.
Euploidy
Ploidy level and origin of ploidy
Ploidy level: Refer to the number of basic chromosome
sets. Monoploid (basic, 1x), diploid(2x), triploid (3x),
...hexaploid (6x), ...octoploid(8x). Individual with three or
more sets are polyploids.
Polyploids are prominent in the plant kingdom,making up
30-35% of Angiosperm species, 75% of the the Graminae
species. Polyploids have advantages in a wider ecological
range of tolerances. In seed plants, the endosperm is
normally triploid. Therefore, seed plants must have
intrinsic mechanisms for tolerating triploidy.
Polyploids are less common in animal species, particularly
among mammals. However, polyploidy is often seen in
amphibians and salmonid fish.
Origin of ploidy : There are two main categories
depending on the origin of the chromosome sets that
make-up the polyploid
autoploid :Individual with chromosome sets characteristic
of the species; The chromosome sets are homologous to
each other and pair fully at meiosis. Autotriploidy 3x
(AAA), autotetraploidy 4x (AAAA), autopentaploidy 5x
(AAAAA), autohexaploidy 6x (AAAAAA) represents 3,4,5,6
homologous basic genomes per cell.
•alloploid: Individual which arise after natural or
experimental crossing of 2 or more closely-related species
or genera and contain the chromosome sets of the parents.
The parents have striking structural dissimilarity between
their basic genomes. Chromosome pairing at meiosis is
limited to bivalent pairing. The entire genome of parental
species A is sufficiently diverged from that of parental
species B to prevent pairing. This suggests that the
'homology searching' mechanism that acts during synapsis
requires some threshold level of similarity before pairing
can occur. An initial cross between A and B followed by
chromosome doubling produces a functional diploid with
two new AB sets AABB.
Autopolyploidy
Autotriploidy
Autotriploid: Individual possessing three basic sets of
homologous chromosomes (3x).
Origin of autotriploids
Autotriploids arise from the fertilization of an unreduced
egg (2n) by a normally reduced male gamete (n) of an
originally diploid species. Autotriploidy can also be
induced. Autotriploids have been identified in at least 68
different genera. They are phenotypically more vigourous
but are not competitive at reproduction due to a high level
of ovule abortion. This is advantageous in banana and
watermelon where seedless is prefered.
Triploids are a good source of trisomics.
The problem with triploids
Triploid zygotes can produce many possible gametes,
because each gamete can get either one or two copies of
each chromsome, in many possible combinations. Consider
a species with only two chromosomes. Even in this simple
case, only one out of four possible gametes will have the
normal haploid complement of chromosomes. Aneuploid
gametes are usually deleterious. In a mating with a
normal haploid gamete, the tetraploid gamete would
produce a triploid, while a 2n + 2n mating would give a
tetraploid, which may or may not be deleterious.
The problem with triploids
The number of possible combinations of
chromosomes increases rapidly as the number of
chromosomes increases. Therefore, the number of
balanced gametes drops rapidly for genomes with
larger numbers of chromosomes.
Example: Impact of triploidy on seed set.
Cytological behaviour in autotriploids
Autotriploidy is comparable to multiple primary trisomics.
The three homologous chromosomes can form trivalents as
well as bivalents with univalents.
Trivalent association is more common with longer
chromosomes.
Possible trivalent configurations at
diakinesis in an autotriploid, based on
crossing over and pachytene
chromosome pairing.(Redrawn from
Kuspira et al., 1986. Can. J. Genet.
Cytol.28:867-887.)
Cytological behaviour in autotriploids
Trivalent association is more common with longer
chromosomes.
Any region can pair, but only two chromosomes can pair in
any one region. If two of three homologues pair along their
entire length, trivalents cannot form because one chromosome
will be left completely unpaired, resulting in a bivalent and a
univalent. If all three chromosomes are involved, chiasma
formation may result in paired segments.
At diakinesis, four possible configurations can be seen
depending on the crossover that occured at pachynema: a.
chain (V-shaped),b. ring-rod (frying pan), c. triple arc (bird-
cage)and d. Y -shaped.
Autotetraploids:
Individual with four basic sets of homologous
chromosomes (4x).
Autotetraploids can appear spontaneously in plants as a
result of non-disjunction in diploids either in the
meristematic tissue or somatic cells. They can also
originate in reproductive tissue through the formation of
unreduced gametes. They can be artifically produced
through the application of colchicine or nitrous oxide.
Colchicine is the most effective in the largest number of
plant and animal species. Doubling occurs because the
spindle fibre formation is disrupted preventing the
chromosomes from migrating to the opposite poles.
Autotetraploids:
Morphological characteristics
In general autotetraploids are slow in growth
with large dark green leaves. In some species,
autotetraploids are larger than the diploid with
larger cell size. In self-pollinating species, the
autotetraploids are smaller or similar to the
diploids.
Autotetraploids:
Cytological Behavior
Each chromosome is present four times and
theoretically the affinity is equal between all four
sets of chromosomes. There are theoretically ten
possible quadrivalent configuration of the four
homologous chromosomes with any other
combination of univalents, bivalents, and
trivalents. However, mostly chains (convergent-a;
parallel-a) and rings (convergent-b; parallel-b)
were observed.
Cytological Behavior
Expected ten types of quadrivalent co-orientations at metaphase-I in an
autotetraploid. Generally, quadrivalent co-orientations convergent a and b and
parallel a and b are observed. (Redrawn from Kuspira et al., 1985. J. Genet. Cytol.
27:51-63. )
Allopolyploidy
An allopolyploid is an individual dervied from
interspecific hybridization from two or more genomically
distinct and distantly related diploid species, followed by
chromosome doubling of the sterile F1.
Normal chromosome pairing and seed fertility are restored
by doubling the chromosomes to a condition known as
amphiploidy.
In allopolyploid or amphiploid, multivalents are not
formed in meiosis. Wheat, oats, canola are three
agronomically important crops which are polyploid.
Allopolyploidy
Homeologous chromosomes:
Aside from major chromosomal rearrangements,
each chromosome in one donor species has a
counterpart in the other donor species. Because
both chromosomes are derived from the same
ancestral chromosome, they are said to be
homeologous.
Homeologous chromosomes may or may not be
able to pair in meiosis. In wheat, there are loci
known to inhibit pairing of homeologous
chromosomes.
ORIGIN OF ALLOPOLYPLOIDY
The origin of the allopolyploid species has been
demonstrated by crossing the diploid species and doubling
the chromosome numbers of the hybrid plant (synthetic).
The U triangle
Allohexaploidy in Wheat
Triticale (Triticum and Secale)
The first man-made cereal. It exists in several ploidy levels. The
hexaploid and octoploid triticales have recieved the greatest amount
of breeding effort.
Hexaploid triticale (primary) is obtained after doubling the
chromosomes of the F1 hybrid between tetraploid wheat (AABB)
and diploid rye (RR). The triploid F1 hybrid by itself would not be
fertile.
Autopolyploidy in plant breeding
The benefits of polyploid breeding include increased
size of plant organs- roots, leaves, flowers fruits and
seeds.
Chemical characteristics change: for example
tetraploid maize has 40% more vitamin A content than its
diploid counterpart.
In polyploid sugar beets, larger roots are desirable for
total sugar harvest per hectare although sugar content
decreases as root size increases.
Some crops such as triploid potatoes are easily
reproduced vegetatively and are therefore very
competitive agronomically.
Aneuploids:
•can occur in both somatic or generative cells.
•can occur spontaneously or be induced.
•can occur when:
chromosomes are lost during meiosis or mitosis
non disjunction of chromosomes or chromatids during
meiosis and mitosis i.e. failure to separate will produce
both hypo- and hyperploid nuclei.
irregularities of chromosome distribution during
meiosis of polyploids.
irregularities of chromosome distribution in multipolar
mitoses.
Types of aneuploidy:
i) Trisomy
ii) Tetrasomy
iii) Nullisomy
iv) Monosomy
Trisomy
Trisomic: cells, tissues of individuals with one or more extra chromosomes or
chromosome segments as compared to the euploid.
- very common in plants.
Diagrammatic sketch of various types of trisomics
Various types of trisomics:
1. Primary trisomics: the extra chromosome(s) is completely
homologous to one of the chromosome pairs in the complement
(e.g. 2n = 2x+1)
2. Secondary trisomics: the extra chromosome(s) has two identical
arms.
3. Tertiary trisomics: the extra chromosome(s) consists of two non
homologous chromosome segments. They occur in the progeny of
translocated heterozygotes. The chromosome ends are homologous
with two different chromosomes.
4. Telotrisomics: The extra chromosome(s) is a telocentric
chromosome.
Metaphase configuration of different trisomics
Meiotic behavior in Primary Trisomic
During zygotene pairing in normal diploids, the extra chromosome
arms will attempt to participate in pairing as much as possible.
After desynapsis, chromosomes remain paired at the ends at
diakinesis.
Primary trisomics can form chains of three chromosomes in
meiosis but never rings of three.
Secondary trisomics can form rings of three chromosomes.
Tertiary trisomics form chains of five but never rings of five while
telosomic trisomics form a chain of three chromosomes but never a
ring.