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B.Sc.IIIyear
Paper-II,Unit-III
Dr.Pinky Dwivedi
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
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
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
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
CHROMOSOME NUMBER
 Aneuploidy
 Causes abnormal
phenotypes in humans
 Tolerated best with sex
chromosomes
 Remember X
inactivation?
6
CHROMOSOME NUMBER
 Down syndrome
 Generally caused by trisomy 21
 Affected by maternal age
7
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
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
CHROMOSOME NUMBER
 Variations in euploidy
 A few vertebrate polyploid animals have been discovered
 Certain amphibians and reptiles
 Separate diploid and polyploid species
10
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
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
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
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
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
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
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
CHROMOSOME NUMBER
 Variations in euploidy
 Wheat (Triticum aestivum) is
hexaploid
 Arose from the union of three
closely related diploid species
 “Allohexaploid”
18
CHROMOSOME NUMBER
 Variations in euploidy
 Polyploid ornamental plants often produce larger
flowers than their diploid counterparts
19
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
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
CHROMOSOME NUMBER
 Variations in euploidy
 Sterility is generally a detrimental trait
 Can be desirable agriculturally
 e.g., Seedless bananas and watermelons are triploid
22
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
CHROMOSOME NUMBER
 Variations in euploidy
 Triploid varieties of flowering plants have been
developed
 Unweakened by seed bearing
 Increased blooms
24
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
CHROMOSOME NUMBER
 Nondisjunction
 May occur during meiosis
 “Meiotic nondisjunction
 May occur during mitosis
 “Mitotic nondisjunction”
26
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
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
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
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
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
CHROMOSOME NUMBER
 Autopolyploid individuals possess additional sets of
chromosomes from the same species
32
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
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
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
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
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
CHROMOSOME NUMBER
 Georgi Karpchenko (1928)
 Allodiploids are sterile
 Allotetraploids are fertile
38
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
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
CHROMOSOME NUMBER
 The drug colchicine is commonly used to promote
polyploidy
 Binds to tubulin in the spindle apparatus
 Interferes with normal chromosome segregation
41
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
CHROMOSOME NUMBER
 Several mechanisms can produce variations in
chromosome number
 Some of these processes can occur naturally
 Figure prominently in speciation and evolution
43
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
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
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
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

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Polyploidy

  • 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
  • 7. CHROMOSOME NUMBER  Down syndrome  Generally caused by trisomy 21  Affected by maternal age 7
  • 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
  • 32. CHROMOSOME NUMBER  Autopolyploid individuals possess additional sets of chromosomes from the same species 32
  • 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