2. CHROMOSOME NUMBER
Chromosome number can be altered in two ways
Variation in the number of sets of chromosomes
Euploid variation
Variation in the number of a particular chromosome
within a set
Aneuploidy
2
3. CHROMOSOME NUMBER
Phenotypes of all species are influenced by thousands
of genes
~35,000 genes in a single set of human chromosomes
Most genes are expressed only in certain cell types or
during certain times in development
Intricate coordination is required in the expression of
these genes
Proper development often requires two copies of each
gene per cell
3
4. CHROMOSOME NUMBER
Aneuploidy
Alteration in the number of a particular
chromosome within a set
Commonly causes an abnormal phenotype
Due to an alteration in the amount of gene
product produced
i.e., 150% if three copies, 50% if one copy, etc.
4
5. CHROMOSOME NUMBER
Aneuploidy
Harmful effects first discovered in Jimson weed
Datura stramonium
Various trisomies had morphologically different capsules
Many other
morphologically
distinguishable traits
Many detrimental
5
6. CHROMOSOME NUMBER
Aneuploidy
Causes abnormal
phenotypes in humans
Tolerated best with sex
chromosomes
Remember X
inactivation?
6
8. CHROMOSOME NUMBER
Euploid organisms
Chromosome number is an exact multiple of a
chromosome set
e.g., Haploid, diploid (2n), triploid (3n), etc.
Polyploid = three or more sets
Euploid variation can occur
Occasionally in animals
Quite frequently in plants
8
9. CHROMOSOME NUMBER
Variations in euploidy
Occur naturally in a few animal species
e.g., Honeybees
Females are diploid
Males (drones) are haploid (monoploid)
Produced from unfertilized eggs
9
10. CHROMOSOME NUMBER
Variations in euploidy
A few vertebrate polyploid animals have been discovered
Certain amphibians and reptiles
Separate diploid and polyploid species
10
11. CHROMOSOME NUMBER
Variations in euploidy can occur in certain tissues
within an animal
Diploid animals sometimes produce polyploid tissues
e.g., Human liver cells can vary greatly in ploidy
3n, 4n, 8n, etc.
“Endopolyploidy”
Biological significance poorly understood
Enhanced production of certain gene products?
11
12. CHROMOSOME NUMBER
Variations in euploidy can occur in certain tissues
within an animal
Diploid animals sometimes produce polyploid tissues
e.g., Chromosomes in Drosophila salivary glands undergo
repeated rounds of mitosis without cell division
~9 Doublings 500 copies of each chromosome
Polytene chromosomes are produced
Provides a unique opportunity to study chromosome structure
and gene organization
12
13. CHROMOSOME NUMBER
Drosophila polytene chromosomes
Drosophila possess 8 chromosomes per diploid cell
Homologous chromosomes synapse and replicate
Polytene structure is formed
Centromeres of all four types
of chromosomes are attached
to the chromocenter
13
14. CHROMOSOME NUMBER
Drosophila polytene chromosomes
Lend themselves to microscopic examination
Can be seen during interphase
100-200 times larger than an average metaphase chromosome
Normal chromosomes are
not visible in interphase
14
15. CHROMOSOME NUMBER
Drosophila polytene chromosomes
Exhibit a characteristic banding pattern
Each dark band is a chromomere
~5,000 bands total
More compact than interband regions
Over 95% of DNA is in these bands
15
16. CHROMOSOME NUMBER
Drosophila polytene chromosomes
Allow the study of the organization and functioning of
interphase chromosomes in great detail
Duplications, deletions, and other rearrangements readily
detectable
Expression patterns of
particular genes can be
correlated with changes
in the compaction of
certain bands
16
17. CHROMOSOME NUMBER
Variations in euploidy
Common in plants
30 – 35% of ferns and angiosperms are polyploid
Important in agriculture
Many food plants are polyploid
e.g., Fruits and grains
Often display outstanding agricultural characteristics
Often larger and more robust
17
18. CHROMOSOME NUMBER
Variations in euploidy
Wheat (Triticum aestivum) is
hexaploid
Arose from the union of three
closely related diploid species
“Allohexaploid”
18
19. CHROMOSOME NUMBER
Variations in euploidy
Polyploid ornamental plants often produce larger
flowers than their diploid counterparts
19
20. CHROMOSOME NUMBER
Variations in euploidy
Some polyploids have an even number of chromosome
sets
e.g., 4n, 6n, etc.
Produce balanced gametes
Equal segregation during meiosis I
Fertile
20
21. CHROMOSOME NUMBER
Variations in euploidy
Some polyploids have an odd number of chromosome
sets
e.g., 3n, 5n, etc.
Produce highly
aneuploid gametes
Unequal segregation
during meiosis I
Generally sterile
21
22. CHROMOSOME NUMBER
Variations in euploidy
Sterility is generally a detrimental trait
Can be desirable agriculturally
e.g., Seedless bananas and watermelons are triploid
22
23. CHROMOSOME NUMBER
Variations in euploidy
Triploid domestic bananas are derived from ancestral
diploid species
Small black spots in the center
are degenerate seeds
Asexually propagated through
cuttings
23
24. CHROMOSOME NUMBER
Variations in euploidy
Triploid varieties of flowering plants have been
developed
Unweakened by seed bearing
Increased blooms
24
25. CHROMOSOME NUMBER
Variations in chromosome number are fairly
widespread
Generally have a significant phenotypic impact
Various causes
Nondisjunction
Improper segregation of chromosomes during anaphase
Interspecies crosses
25
26. CHROMOSOME NUMBER
Nondisjunction
May occur during meiosis
“Meiotic nondisjunction
May occur during mitosis
“Mitotic nondisjunction”
26
27. CHROMOSOME NUMBER
Meiotic nondisjunction
Can occur during meiosis I
All resulting gametes are aberrant (aneuploid)
Can occur during meiosis II
Half of the resulting gametes are aberrant (aneuploid)
27
28. CHROMOSOME NUMBER
Meiotic nondisjunction
Complete nondisjunction occurs in rare cases
Diploid gamete is produced
Chromosome number is not reduced
Fertilization with a normal haploid gamete produce a triploid
individual
28
29. CHROMOSOME NUMBER
Mitotic nondisjunction
Improper segregation of chromosomes may happen
after fertilization
Part of the organism will contain cells genetically
different from the rest of the organism
“Mosaicism”
Size and location or mosaic region depend on timing of
nondisjunction
29
30. CHROMOSOME NUMBER
Mitotic nondisjunction
Bilateral gynandromorph of Drosophila melanogaster
Began as an XX individual
X chromosome was lost in the first mitotic division
Left half is XX and female
Right half is XO and male
30
31. CHROMOSOME NUMBER
Changes in euploidy can occur by various different
mechanisms
Complete nondisjunction
Results in autopolyploidy
Increase in number of sets within a single species
Result of interspecies crosses
Generally between close evolutionary relatives
More common
Results in allopolyploidy
Possess sets of chromosomes from different species
31
33. CHROMOSOME NUMBER
Allopolyploidy can produce various combinations
Individuals possessing one set of chromosomes from
each of two species are termed allodiploid
Allopolyploids contain a combination of
autopolyploidy and allodiploidy
33
34. CHROMOSOME NUMBER
Individuals possessing one set of chromosomes from
each of two species are termed allodiploid
Hybrids between two species
Such hybrids often possess desirable traits
e.g., Traits of both parental species
Often sterile
Depends on the degree of similarity of the different species’
chromosomes
May be fertile if the two genomes are very similar
34
35. CHROMOSOME NUMBER
Individuals possessing one set of chromosomes from
each of two species are termed allodiploid
Roan antelope (Hippotragus equinus) and sable antelope
(Hippotragus niger) have similar chromosomes
Evolutionarily related chromosomes
are homeologous
Allodiploid hybrids are fertile
35
36. CHROMOSOME NUMBER
Georgi Karpchenko (1928)
First to recognize the relationship between chromosome
pairing and fertility
Crossed a radish (Raphanus) and a cabbage (Brassica)
Both are diploid with 18 chromosomes
Allodiploids possessed 18 chromosomes
Species are not closely related
Chromosomes are distinctly different
Cannot synapse in meiosis
Hybrids are sterile
36
37. CHROMOSOME NUMBER
Georgi Karpchenko (1928)
Crossed a radish (Raphanus) and a cabbage (Brassica)
Most hybrids are sterile
Rare offspring are produced
Karyotyping revealed that they were allotetraploid
Contain 36 chromosomes
Allotetraploids are fertile
37
38. CHROMOSOME NUMBER
Georgi Karpchenko (1928)
Allodiploids are sterile
Allotetraploids are fertile
38
39. CHROMOSOME NUMBER
Georgi Karpchenko (1928)
Crossed a radish (Raphanus) and a cabbage (Brassica)
Some fertile allotetraploids are fertile
Sadly, they were useless
Possessed the leaves of a radish and the roots of a cabbage
Demonstrated that it is possible to artificially produce a
new self-perpetuating species
39
40. CHROMOSOME NUMBER
The development of polyploids is of interest among
plant breeders
Often exhibit desirable traits
Various agents have been shown to promote
nondisjunction
Leads to polyploidy
40
41. CHROMOSOME NUMBER
The drug colchicine is commonly used to promote
polyploidy
Binds to tubulin in the spindle apparatus
Interferes with normal chromosome segregation
41
42. CHROMOSOME NUMBER
Alfred Blakeslee and Amos Avery (1937)
First to apply colchicine to plant tissue
Able to cause complete nondisjunction
Produced autotetraploids
Can be propagated asexually from
cuttings
Tetraploid flowers are capable of
sexual reproduction
42
43. CHROMOSOME NUMBER
Several mechanisms can produce variations in
chromosome number
Some of these processes can occur naturally
Figure prominently in speciation and evolution
43
44. CHROMOSOME NUMBER
Individual cells can be mixed together and made to
fuse
“Cell fusion”
Can create new strains of plants
Enables crossing of species
unable to interbreed naturally
44
45. CHROMOSOME NUMBER
The development of diploid crop strains homozygous
for all of their genes is a goal of some plant breeders
Two such true-breeding strains can be crossed to
produce hybrids heterozygous for many genes
Hybrid vigor (heterosis) can result
45
46. CHROMOSOME NUMBER
True-breeding strains can be produced after several
rounds of self-fertilization
Alternately, monoploids can be used to produce such
strains
Have been used to improve wheat, rice, corn, barley, and
potato
46
47. CHROMOSOME NUMBER
Sipra Guha and Satish Maheshwari (1964)
Developed a method to produce monoploid
plants directly from pollen grains
“Anther culture”
Used extensively to produce entirely homozygous
diploid strains
47