Chromosomes,

Karyotype &
Evolution

1 December 9, 2014
 What is Karyotype??
Particular chromosome
complement of an individual
or a related group of
individuals, as defined by
the chromosome size,
morphology, and number –
Karyotype
General morphology
 Size of chromosome
 Position of centromere
 Presence of secondary
constriction
 Size of satellite
of somatic chromosome
complement of an individual
constitutes its Karyotype

2 December 9, 2014
 Karyotypes are presented
By arranging chromosomes
of somatic complement in a
descending order of size
keeping their centromeres
in a straight line
Longest chromosome – on
extreme left
Shortest chromosome – on
extreme right
Sex chromosomes –
allosomes – extreme right

3 December 9, 2014
  All normal members of a
species – identical All metacentric chromosomes
karyotype of the same size – Symmetrical
Karyotype
 Karyotype of a normal
somatic cell of a normal
individual represents the Deviation from this state –
karyotype of the Asymmetrical Karyotype
concerned species
 Each chromosome is
designated by a serial
Species showing a greater
number according to its
asymmetry – more advanced
position

4 December 9, 2014
 Chromosomes & Evolution

Karyotypes of closely related species are more similar to

each other than they are to the karyotypes of distantly related
speices
Changes in chromosome size and morphology are therefore
evidently characteristic of the evolutionary process

 Are there maximum and minimum limits on the numbers

of chromosomes ?
 Are there constraints on the size or morphology of
individual chromosomes?

5 December 9, 2014
 Constraints on chromosome
size, shape and number

Chromosome numbers per cell

Ant &
No fundamental
nematodes
problems that can affect
one pair the mechanisms of cell
division caused by either
low or high chromosome
Fern number
630 pairs
6 December 9, 2014
 Too long chromosome
Parascaris univalens does
Problem in pulling the
not have this problem as its
chromosome far enough
chromosomes are
apart at anaphase before the
holocentric and are attached
cell and the chromosome
to the spindle throughout
may be cut across by the
their length
cleavage furrow

7 December 9, 2014
 Higher the chromosome number, more is the chance of loss at
anaphase

Cells with large chromosome numbers

the check-point that prevents progression to anaphase until
all the chromosomes are attached to the spindle might be
less efficient
Because
signals from one unattached chromosome out of a very large
number might not be adequate to delay mitotic progression

8 December 9, 2014
 Organisms with large chromosomes seems to have no
difficulty in segregating their chromosomes

There are potential problems with segregating very small

chromosomes
In meiosis of male Drosophila, there is a small but
significant rate of loss of the smallest chromosome
Very small yeast artificial chromosomes are lost during cell
division but longer are stable

There may be a lower limit on the size for a chromosome to

be transmitted efficiently from one cell generation to the next

9 December 9, 2014
 No evidence that chromosome shape is of any great
significance
No advantage to any particular type of chromosomal
morphology over other
An Exception – very large acro- or telocentric
chromosomes, which might suffer the problem of being cut
across by the cleavage furrow before they have been
properly separated at anaphase

10 December 9, 2014
 Speciation with little or no
chromosome change

Chromosomal changes do not necessarily accompany speciation

Many examples – remarkable similarity of chromosomes
between species
Among mammals – Cats and seals, certain primates
Birds are very conservative karyotypically – four species of
gulls – have indistinguishable karyotype
Drosophila – 67 species – fall into 18 homosequential groups

11 December 9, 2014
 Speciation with little or no
chromosome change

Even when whole karyotypes have not been maintained

unaltered – possible to recognize individual chromosomes that
appear to have remained unchanged during the divergence of
species
Several human chromosomes – unaltered in cats – diverged 200
Myr ago
Degree of conservation between chromosomes of human and
chicken – diverged between 300 to 350 Myr ago

12 December 9, 2014
 Chromosome Rearrangements

Karyotypes usually differ between organisms, even closely

related ones
Differences are due to chromosomal rearrangements including
translocations, inversions, duplications, and tandem fusions

13 December 9, 2014
 Chromosome Rearrangements
Translocation

material that comprises a single chromosome in one organism

can become distributed among two or more chromosomes in
another
Material that forms a single chromosome in rats/mice may be
distributed over several different human chromosomes and vice
versa
Human and mouse gene mapping shows that there are about 183
chromosome segments that are conserved between these species

14 December 9, 2014
 Chromosome Rearrangements
Duplications

Duplications varying in size from 1 – 400 kb – important in

evolution of primates, including human
About 5% of human genome and nearly 11% of chromosome 22
consist of duplication

15 December 9, 2014
 Chromosome Rearrangements
Tandem Fusions

Human chromosome 2 is the result of end-to-end fusion

Separate chromosomes homologous to long and short arms of
human chromosome 2 are found in gorilla, chimpanzee etc.
Telomeric sequences are still present at the point of fusion in
human chromosome 2
Consists 2 arrays of TTAGGG oriented in opposite directions

16 December 9, 2014
 Chromosome Rearrangements
Robertsonian Fusion and Fission
Robertsonian Fusion – centromeric regions of two acro-centric
chromosomes fuse to form a single metaphase chromosome
Robertsonian Fission – splitting of a metacentric chromosome at
the centromere to form two telocentric – much less frequent

Sheep – three pairs of Populations of mouse

metacentrics 2n = 40 acrocentrics
Goat – six pairs of acrocentrics 2n = 22 (all autosomes except
Banding patterns confirm one pair fuse to form
similarity metacentric)

17 December 9, 2014
 Changes in Heterochrmatin

Differences in quantity, position and properties of

heterochromatin among related species are very common
a) Loss of heterochromatin often occurs when metacentrics are
formed by fusion of two acrocentrics
b) Differences in staining properties of heterochromatin – may
be due to chemical differences
c) DNA sequences - some are amplified to form a block of
heterochromatin in one species, while different sequences
might be amplified in another species
d) Another mechanism may be euchromatin transformation
18 December 9, 2014
 Gain or Loss of DNA
Genomes of closely related organisms may differ substantially in
the amount of DNA – often without substantial changes in their
karyotypes
Parts of genome of pufferfish have the same gene order as the
homologous segments of the human genome
although the genome of pufferfish is 7.5 times smaller – only the
spacing of the genes differs

19 December 9, 2014
 Gain or Loss of DNA

Genome of cereals have much the same gene order

Wheat genome is 40 times larger than that of rice
Most of the extra DNA consists of moderately repetitive sequences

20 December 9, 2014
 Chromosome Change &
Speciation
 Chromosomal changes are required for speciation in some
cases
 Speciation can occur without any significant change in
chromosomes

Chromosome changes are most likely to produce reproductive

barriers when they cause problems at meiosis in heterozygotes,
leading to reduced fertility

21 December 9, 2014
 Chromosome Change &
Speciation

 Inversions, may or may not cause problems at meiosis

 Small insertions or inversions, initially fail to pair properly and
form loops, eventually resolve

Difficulties arise with translocations, tandem fusions, centric

fusions or fissions
Chromosome from one parental genome is homologous to two (or
more) chromosomes from other parental genomes and form
trivalents
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24 December 9, 2014
 Chromosome Change &
Speciation

 Extreme divergence of karyotypes might give rise to pairing

difficulties
 Result in meiotic breakdown

Polyploidy can also give rise to meiotic problems

A cross between diploid and tetraploid produces triploid –
generally sterile

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