1. VI. Mutation Overview Changes in Ploidy
- These are the most dramatic changes, adding a whole SET of chromosomes
Mechanism #1: Complete failure of Meiosis
Mechanism #2: Failure of Mitosis in Gamete-producing Tissue

2. 2n
1) Consider a bud cell in the flower bud of a plant.

3. 2n 4n
1) Consider a bud cell in the flower bud of a plant.
2) It replicates it’s DNA but fails to divide... Now it is a tetraploid bud cell.

4. 2n 4n
1) Consider a bud cell in the flower bud of a plant.
2) It replicates it’s DNA but fails to divide... Now it is a tetraploid bud cell.
3) A tetraploid flower develops from this tetraploid cell; eventually producing 2n SPERM and 2n EGG

5. 2n
1) Consider a bud cell in the flower bud of a plant. 4n
2) It replicates it’s DNA but fails to divide... Now it is a tetraploid bud cell.
3) A tetraploid flower develops from this tetraploid cell; eventually producing 2n SPERM and 2n EGG
4) If it is self-compatible, it can mate with itself, producing 4n zygotes that develop into a new 4n species.
Why is it a new species?

6. How do we define ‘species’?
“A group of organisms that reproduce with one another and are reproductively isolated from other such groups”
(E. Mayr – ‘biological species concept’)

7. How do we define ‘species’?
Here, the tetraploid population is even reproductively isolated from its own parent species…So speciation can be an instantaneous genetic event… 4n 2n
Gametes
Zygote 1n 3n
Triploid is a dead-end… so species are separate

8. VI. Mutation
Overview
Changes in Ploidy
- These are the most dramatic changes, adding a whole SET of chromosomes
Mechanism #1: Complete failure of Meiosis
Mechanism #2: Complete failure of Mitosis
The Frequency of Polyploidy
For reasons we just saw, we might expect polyploidy to occur more frequently in hermaphroditic species, because the chances of ‘jumping’ the triploidy barrier to reproductive tetraploidy are more likely. Over 50% of all flowering plants are polyploid species; many having arisen by this duplication of chromosome number within a lineage.

9. VI. Mutation Overview Changes in Ploidy
Changes in ‘aneuploidy’ (changes in chromosome number)
1. Mechanism: Non-disjunction (failure of a homologous pair or
sister chromatids to separate)

10. VI. Mutation Overview Changes in Ploidy
Changes in ‘aneuploidy’ (changes in chromosome number)
1. Mechanism: Non-disjunction (failure of a homologous pair or
sister chromatids to separate)
2. Human Examples
a. trisomies
Trisomy 21 – “Downs’ Syndrome”

11. VI. Mutation Some survive to birth Overview Changes in Ploidy
Changes in ‘aneuploidy’ (changes in chromosome number)
1. Mechanism: Non-disjunction (failure of a homologous pair or
sister chromatids to separate)
2. Human Examples
a. trisomies
Trisomy 21 – “Downs’ Syndrome”
Trisomy 18 – Edward’s Syndrome
Trisomy 13 – Patau Syndrome
Trisomy 9
Trisomy 8
Trisomy 22
Trisomy 16 – most common – 1% of pregnancies – always aborted
Some survive to birth

12. VI. Mutation
Overview
Changes in Ploidy
Changes in ‘aneuploidy’ (changes in chromosome number)
1. Mechanism: Non-disjunction (failure of a homologous pair or
sister chromatids to separate)
2. Human Examples
a. trisomies
47, XXY – “Klinefelter’s Syndrome”
Extreme effects listed below; most show a phenotype within the typical range for XY males

13. No dramatic effects on the phenotype; may be taller.
VI. Mutation
Overview
Changes in Ploidy
Changes in ‘aneuploidy’ (changes in chromosome number)
1. Mechanism: Non-disjunction (failure of a homologous pair or
sister chromatids to separate)
2. Human Examples
a. trisomies
47, XXX – “Triple-X Syndrome”
No dramatic effects on the phenotype; may be taller.
In XX females, one X shuts down anyway, in each cell (Barr body).
In triple-X females, 2 X’s shut down.

14. VI. Mutation
Overview
Changes in Ploidy
Changes in ‘aneuploidy’ (changes in chromosome number)
1. Mechanism: Non-disjunction (failure of a homologous pair or
sister chromatids to separate)
2. Human Examples
a. trisomies
47, XYY – “Super-Y Syndrome”
Often taller, with scarring acne, but within the phenotypic range for XY males

15. VI. Mutation Overview Changes in Ploidy
Changes in ‘aneuploidy’ (changes in chromosome number)
1. Mechanism: Non-disjunction (failure of a homologous pair or
sister chromatids to separate)
2. Human Examples
b. monosomies
45, XO– “Turner’s Syndrome” (the only human monosomy to survive to birth)

16. VI. Mutation Overview Changes in Ploidy
Changes in ‘Aneuploidy’ (changes in chromosome number)
D. Change in Gene Number/Arrangement

17. 1. Mechanism #1: Unequal Crossing-Over a. process:
VI. Mutation
Overview
Changes in Ploidy
Changes in ‘Aneuploidy’ (changes in chromosome number)
D. Change in Gene Number/Arrangement
1. Mechanism #1: Unequal Crossing-Over
a. process:
If homologs line up askew: A B a b

18. 1. Mechanism #1: Unequal Crossing-Over a. process:
VI. Mutation
Overview
Changes in Ploidy
Changes in ‘Aneuploidy’ (changes in chromosome number)
D. Change in Gene Number/Arrangement
1. Mechanism #1: Unequal Crossing-Over
a. process:
If homologs line up askew
And a cross-over occurs A a b B

19. 1. Mechanism #1: Unequal Crossing-Over a. process:
VI. Mutation
Overview
Changes in Ploidy
Changes in ‘Aneuploidy’ (changes in chromosome number)
D. Change in Gene Number/Arrangement
1. Mechanism #1: Unequal Crossing-Over
a. process:
If homologs line up askew
And a cross-over occurs
Unequal pieces of DNA will be exchanged… the A locus has been duplicated on the lower chromosome and deleted from the upper chromosome A a b B

20. 1. Mechanism #1: Unequal Crossing-Over a. process: b. effects:
VI. Mutation
Overview
Changes in Ploidy
Changes in ‘Aneuploidy’ (changes in chromosome number)
D. Change in Gene Number/Arrangement
1. Mechanism #1: Unequal Crossing-Over
a. process:
b. effects:
- can be bad:
deletions are usually bad – reveal deleterious recessives
additions can be bad – change protein concentration

21. 1. Mechanism #1: Unequal Crossing-Over a. process: b. effects:
VI. Mutation
Overview
Changes in Ploidy
Changes in ‘Aneuploidy’ (changes in chromosome number)
D. Change in Gene Number/Arrangement
1. Mechanism #1: Unequal Crossing-Over
a. process:
b. effects:
- can be bad:
deletions are usually bad – reveal deleterious recessives
additions can be bad – change protein concentration
- can be good:
more of a single protein could be advantageous
(r-RNA genes, melanin genes, etc.)

22. 1. Mechanism #1: Unequal Crossing-Over a. process: b. effects:
VI. Mutation
Overview
Changes in Ploidy
Changes in ‘Aneuploidy’ (changes in chromosome number)
D. Change in Gene Number/Arrangement
1. Mechanism #1: Unequal Crossing-Over
a. process:
b. effects:
- can be bad:
deletions are usually bad – reveal deleterious recessives
additions can be bad – change protein concentration
- can be good:
more of a single protein could be advantageous
(r-RNA genes, melanin genes, etc.)
source of evolutionary novelty (Ohno hypothesis )
where do new genes (new genetic information) come from?

23. Gene A
Duplicated A
generations
Mutation – may even render the protein
non-functional
But this organism is not selected against, relative to others in the population that lack the duplication, because it still has the original, functional, gene.

24. Gene A
Duplicated A
generations
Mutation – may even render the protein
non-functional
Mutation – other mutations may render the protein functional in a new way
So, now we have a genome that can do all the ‘old stuff’ (with the original gene), but it can now do something NEW. Selection may favor these organisms.

25. If so, then we’d expect many different neighboring genes to have similar sequences. And non-functional pseudogenes (duplicates that had been turned off by mutation).
These occur – Gene Families

26. And, if we can measure the rate of mutation in these genes, then we can determine how much time must have elapsed since the duplication event…
Gene family trees…

27. Mechanism #1: Unequal Crossing-Over Mechanism #2: Translocation
VI. Mutation
Overview
Changes in Ploidy
Changes in ‘Aneuploidy’ (changes in chromosome number)
D. Change in Gene Number/Arrangement
Mechanism #1: Unequal Crossing-Over
Mechanism #2: Translocation

28. Translocation Downs.
Transfer of a 21 chromosome to a 14 chromosome
Can produce normal, carrier, and Down’s child.

29. Mechanism #1: Exon Shuffling
VI. Mutation
Overview
Changes in Ploidy
Changes in ‘Aneuploidy’ (changes in chromosome number)
D. Change in Gene Number/Arrangement
E. Change in Gene Structure
Mechanism #1: Exon Shuffling
Crossing over WITHIN a gene, in introns, can recombine exons within a gene, producing new alleles.
Allele “a”
EXON 1a
EXON 2a
EXON 3a
Allele “A”
EXON 1A
EXON 2A
EXON 3A

30. Mechanism #1: Exon Shuffling
VI. Mutation
Overview
Changes in Ploidy
Changes in ‘Aneuploidy’ (changes in chromosome number)
D. Change in Gene Number/Arrangement
E. Change in Gene Structure
Mechanism #1: Exon Shuffling
Crossing over WITHIN a gene, in introns, can recombine exons within a gene, producing new alleles.
EXON 1a
EXON 2a
EXON 3a
Allele “a”
EXON 1A
EXON 2A
EXON 3A
Allele “A”
Allele “α”
Allele “ά”

31. 1. Mechanism #1: Exon Shuffling 2. Mechanism #2: Point Mutations
VI. Mutation
Overview
Changes in Ploidy
Changes in ‘Aneuploidy’ (changes in chromosome number)
D. Change in Gene Number/Arrangement
E. Change in Gene Structure
1. Mechanism #1: Exon Shuffling
2. Mechanism #2: Point Mutations
a. addition/deletion: “frameshift” mutations
…T C C G T A C G T ….
Normal
…A G G C A U G C A …
ARG
HIS
ALA
Mutant: A inserted
…T C C A G T A C G T ….
…A G G U C A U G C A …
SER
CYS
DNA
m-RNA
Throws off every 3-base codon from mutation point onward

32. 1. Mechanism #1: Exon Shuffling 2. Mechanism #2: Point Mutations
VI. Mutation
Overview
Changes in Ploidy
Changes in ‘Aneuploidy’ (changes in chromosome number)
D. Change in Gene Number/Arrangement
E. Change in Gene Structure
1. Mechanism #1: Exon Shuffling
2. Mechanism #2: Point Mutations
a. addition/deletion: “frameshift” mutations
b. substitution
… T C C G T A C G T ….
Normal
…A G G C A U G C A …
DNA
m-RNA
ARG
HIS
ALA
Mutant: A for G
…T C C A T A C G T ….
…A G G U A U G C A …
TYR
At most, only changes one AA (and may not change it…)

33. Sources of Variation Causes of Evolutionary Change
VI. Mutation
Overview
Changes in Ploidy
Changes in ‘Aneuploidy’ (changes in chromosome number)
D. Change in Gene Number/Arrangement
E. Change in Gene Structure
F. Summary
Sources of Variation Causes of Evolutionary Change
MUTATION: Natural Selection
-New Genes: 
point mutation  Mutation (polyploidy can make new
exon shuffling  species)
RECOMBINATION:
- New Genes:
crossing over
-New Genotypes:
independent assortment
VARIATION

34. Modern Evolutionary Biology I. Population Genetics
A. Overview
Sources of Variation Agents of Change
Mutation N.S.
Recombination mutation
- crossing over
- independent assortment
VARIATION

35. Modern Evolutionary Biology I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
G. Hardy and W. Weinberg
1. Definitions
- Evolution: a change in the genetic structure of a population
- Population: a group of interbreeding organisms that share a common gene pool; spatiotemporally and genetically defined
- Gene Pool: sum total of alleles held by individuals in a population
- Genetic structure: Gene array and Genotypic array
- Gene/Allele Frequency: % of alleles at a locus of a particular type
- Gene Array: % of all alleles at a locus: must sum to 1.
- Genotypic Frequency: % of individuals with a particular genotype
- Genotypic Array: % of all genotypes for loci considered; must = 1.

36. Modern Evolutionary Biology I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
1. Definitions
2. Basic Computations AA Aa aa
Individuals 70 80 50
(200)

37. Modern Evolutionary Biology I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
1. Definitions
2. Basic Computations AA Aa aa
Individuals 70 80 50
(200)
Genotypic Array
70/200 = 0.35
80/200 = .40
50/200 = 0.25
= 1

38. Modern Evolutionary Biology I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
1. Definitions
2. Basic Computations AA Aa aa
Individuals 70 80 50
(200)
Genotypic Array
70/200 = 0.35
80/200 = .40
50/200 = 0.25
= 1
''A' alleles
140
220/400 = 0.55

39. Modern Evolutionary Biology I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
1. Definitions
2. Basic Computations AA Aa aa
Individuals 70 80 50
(200)
Genotypic Array
70/200 = 0.35
80/200 = .40
50/200 = 0.25
= 1
''A' alleles
140
220/400 = 0.55
'a' alleles
100
180/400 = 0.45

40. Modern Evolutionary Biology I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
1. Definitions
2. Basic Computations
- Determining the Gene Array from the Genotypic Array
a. f(A) = f(AA) + f(Aa)/2 = /2 = = .55
b. f(a) = f(aa) + f(Aa)/2 = /2 = = .45
KEY: The Gene Array CAN ALWAYS be computed from the genotypic array; the process just counts alleles instead of genotypes. No assumptions are made when you do this.

41. Modern Evolutionary Biology I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
C. The Hardy-Weinberg Equilibrium Model
1. Goal:
Describe what the genetic structure of the population would be if there were NO evolutionary change – if the population was in equilibrium.

42. Modern Evolutionary Biology I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
C. The Hardy-Weinberg Equilibrium Model
1. Goal:
Describe what the genetic structure of the population would be if there were NO evolutionary change – if the population was in equilibrium.
For a population’s genetic structure to remain static, the following must be true:
- random mating
- no selection
- no mutation
- no migration
- the population must be infinitely large

43. Initial genotypic freq.
Modern Evolutionary Biology
I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
C. The Hardy-Weinberg Equilibrium Model
2.Example: AA Aa aa
Initial genotypic freq.
0.4
0.2
1.0
Gene freq.
Genotypes, F1
Gene Freq's
Genotypes, F2

44. Initial genotypic freq.
Modern Evolutionary Biology
I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
C. The Hardy-Weinberg Equilibrium Model
2.Example: AA Aa aa
Initial genotypic freq.
0.4
0.2
1.0
Gene freq.
f(A) = p = /2 = 0.6
f(a) = q = /2 = 0.4
Genotypes, F1
Gene Freq's
Genotypes, F2

45. Initial genotypic freq.
Modern Evolutionary Biology
I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
C. The Hardy-Weinberg Equilibrium Model
2.Example: AA Aa aa
Initial genotypic freq.
0.4
0.2
1.0
Gene freq.
f(A) = p = /2 = 0.6
f(a) = q = /2 = 0.4
Genotypes, F1
p2 = .36
2pq = .48
q2 = .16
= 1.00
Gene Freq's
Genotypes, F2

46. Initial genotypic freq.
Modern Evolutionary Biology
I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
C. The Hardy-Weinberg Equilibrium Model
2.Example: AA Aa aa
Initial genotypic freq.
0.4
0.2
1.0
Gene freq.
f(A) = p = /2 = 0.6
f(a) = q = /2 = 0.4
Genotypes, F1
p2 = .36
2pq = .48
q2 = .16
= 1.00
Gene Freq's
f(A) = p = /2 = 0.6
f(a) = q = /2 = 0.4
Genotypes, F2
After one generation with these conditions, the population equilibrates

47. Modern Evolutionary Biology I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
C. The Hardy-Weinberg Equilibrium Model
2.Example
3. Utility:
If no populations meets these conditions explicitly, how can it be useful?

48. Initial genotypic freq. CONCLUSION:The real population is NOT in HWE.
Modern Evolutionary Biology
I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
C. The Hardy-Weinberg Equilibrium Model
2.Example
3. Utility:
If no populations meets these conditions explicitly, how can it be useful?
For comparison, like a “perfectly balanced coin” AA Aa aa
Initial genotypic freq.
0.5
0.2
0.3
1.0
Gene freq.
f(A) = p = /2 = 0.6
f(a) = q = /2 = 0.4
HWE expections
p2 = .36
2pq = .48
q2 = .16
= 1.00
CONCLUSION:The real population is NOT in HWE.

49. Modern Evolutionary Biology I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
C. The Hardy-Weinberg Equilibrium Model
3. Utility:
- if a population is NOT in HWE, then one of the assumptions must be violated.
Sources of Variation Agents of Change
Mutation N.S.
Recombination Drift
- crossing over Migration
- independent assortment Mutation
Non-random Mating
VARIATION
So, if NO AGENTS are acting on a population, then it will be in equilibrium and WON'T change.

50. Modern Evolutionary Biology I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
C. The Hardy-Weinberg Equilibrium Model
D. Deviations from HWE
1. mutation
1. Consider a population with:
f(A) = p = 0.6 f(a) = q = 0.4
2. Suppose 'a' mutates to 'A' at a realistic rate of:
μ = 1 x 10-5
3. Well, what fraction of alleles will change?
'a' will decline by: qm = .4 x =
'A' will increase by the same amount.
f(A) = p1 = f(a1) = q =

51. Modern Evolutionary Biology I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
C. The Hardy-Weinberg Equilibrium Model
D. Deviations from HWE
1. mutation
2. migration
p2 = 0.7
q2 = 0.3
p1 = 0.2
q1 = 0.8
suppose migrants immigrate at a rate such that the new immigrants represent 10% of the new population

52. Modern Evolutionary Biology I. Population Genetics
A. Overview
B. The Genetic Structure of a Population
C. The Hardy-Weinberg Equilibrium Model
D. Deviations from HWE
1. mutation
2. migration
p2 = 0.7
q2 = 0.3
p1 = 0.2
q1 = 0.8
M = 10%
p(new) = p1(1-m) + p2(m)
= 0.2(0.9) + 0.7(0.1)
= = 0.25