Title: Transmission of Genomes meiosis and Mendel
1Transmission of Genomes (meiosis and Mendel)
- ...Meiosis the process of two consecutive cell
divisions in the diploid progenitors of sex
cells, - results in the production of haploid gametes,
- Mendelian genetics in many ways, applied
meiosis, - or, meiosis revealed.
2Meiosis is critical for sexual reproduction in
all diploid organisms
- ...meiosis leads to the formation of gametes,
- one gamete (carrying one genome) from each parent
forms a zygote, -
- ...meiosis is the basis for extensive variation
among members of a population.
3Recombination II
2n combinations of chromosomes, n number of
chromosomes.
Random Assortment of Chromosomes.
42n combinations of chromosomes n number of
chromosomes
- n 1, 2n 2
- n 2, 2n 4
- n 3, 2n 8
- n 5, 2n 32 Arabidopsis
-
-
- n 23, 2n 8,388,608 H. sapiens
- n 39, 2n yip! dog
5Mendelian Genetics
- Gregor Mendel (1822-1884),
- Augustinian monk,
- Botanist,
- Pisum sativa,
- Garden pea,
- 1st Model Organism.
6Model Organisms
- Ease of cultivation,
- Rapid Reproduction,
- Small size,
- Fecund (large brood size),
- Mutants are available and easy to identify,
- Broad literature and experimental background
available.
7Model Organisms
8Brief History of Genetics
- prehistory,
- artificial selection non-random breeding with
no guarantee of results, - human mediated natural selection
- Canis lupis (wolf) to Canis domesticus (dog),
- savage, misbehaving wolves stewpot,
- helpful, friendly companions lived to breed,
- oldest undisputed dog bones, 20,000 years at an
Alaskan settlement.
9Gourds!Lagenaria vulgaris
10Why I Am a Biologist?
11Prehistory of Genetics
- By around 10,000 years ago, the same approach
yielded, - reindeer, sheep, goats, pigs, cattle, fowl, etc.
- rice, barley, wheat, lentils, corn, squash,
tomatoes, potatoes, - peppers, yams, peanuts, gourds, etc.
- yeast and bacteria for fermentation, etc.
12History of Modern Genetics
- By the 19th century, precise techniques for
selective breeding allowed the systematic
creation of strains in which offspring often had
prized traits. - However, the traits would unpredictably disappear
in some generations and return in others.
Moravian Sheep Breeders Association (1837) One
breeders dilemma I have an outstanding ram
that would be priceless if its advantages are
inherited by its offspringif they are not
inherited, then it would be worth no more than
its wool, meat and skin.
13Abbot Cyril Napp
- In concluding remarks to the Moravian Sheep
Breeders Society, Abbot Cyril Napp proposed that
breeders could improve predictions of traits in
offspring if they determined the answers to three
basic questions - What is inherited?
- How is it inherited?
- What is the role of chance in heredity?
14Monastery of St. ThomasBrno, 1843
- Abbot Cyril Napp, master of the monastery
admitted Johann Mendel, a gifted student from a
poor peasant family, - Johann changed his name to Gregor,
- was sent to the University of Vienna,
- studied physics, chemistry, botany, paleontology
and plant physiology, - resolved to answer Abbot Napps three questions.
Also, Mendel had test anxiety issues, and
couldnt pass exams.
15Prevailing Genetic Philosophies
- Philosophy 1 one parent contributes most to the
offspring, - an homunculus did it,
- Aristotle contended that it was the male, via a
fully formed being in the sperm, - Respected 19th microscopists staked their
reputation that they could see the homunculus in
sperm.
16Prevailing Genetic Philosophies
- Philosophy 2 blended inheritance,
- parental traits are mixed and become forever
changed in the offspring.
17To begin a Science of Genetics
- careful observation, over time, of groups of
organisms, - rigorous (i.e. mathmetical) analysis of these
observations, - development of a theoretical framework to explain
these observations.
18Napps Questions
- Napp
- What is inherited?
- How is it inherited?
- What is the role of chance in heredity?
19Mendel Insight 1
20Insight 2
21Insight 3
- True breeding lines,
- Permit me to state that, as an empirical worker,
I must define constancy of type as the retention
of character during the period of observation.
-Mendel - Mendel observed his true-breeding lines for up
to 8 generations. - Used the pure-breeding line to form hybrid lines,
- offspring of genetically dissimilar parents.
22Insight 4
- Expert plant breeder,
- carefully controlled the matings,
- prevented the intrusion of any pollen foreign to
the desired mating, - made reciprocal crosses
- reversing the traits of the male and female
parents, - male wrinked x female smooth,
- female wrinkled x male smooth.
23Insight 5
- Used large numbers of subjects,
- applied statistical analysis to his data!
- uncovered the patterns of transmission that we
will take for granted.
24Insight 6
- Controlled for environmental factors,
- for example, when looking at the short and tall
plants, he made sure that all subjects received
equal light, - from his studies of plant physiology, he knew
that light mediates stem elongation.
25Insight Summation
- Used the pea,
- Identified alternate forms,
- Identified and used true breeding lines,
- Expert plant breeder,
- Used statistical analysis,
- Controlled for environmental factors.
- Set up a simple black and white system, and
then figured out how it worked.
26Monohybrid Cross
- Mating between individuals that differ in only
one trait, - yellow pea x green pea,
- violet flower x white flower
- tall x dwarf
- round seed x wrinkled seed
- full pod x constricted pod
- etc.
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28Monohybrid Cross
Generation Parental (P) First Filial
(F1) Second Filial (F2)
yellow pea green pea (pollen)
(eggs)
x
grow plants, cross pollinate
grow, allow to self-fertilize
all yellow
6022 yellow 2001 green 3 1
29Reappearance of Trait in F2 Generation Disproves
Blending
- Blending did not occur, in fact over 2000 peas
retained the information necessary to make green
peas, - Mendel concluded that there must be two types of
yellow peas, - those that breed true like the parent plant,
- those that can yield some green peas, like some
of the F1 hybrids.
30Generations
Generation Parental (P) First Filial
(F1) Second Filial (F2)
yellow pea green pea (pollen)
(eggs)
x
grow plants,cross pollinate
grow, allow to self-fertilize
all yellow
6022 yellow 2001 green 3 1
31Reciprocal Crosses Disproved Influential Parent
Myths
- In all monohybrid crosses, the ratio of
contrasting traits was approximately 31, - in the yellow(male) x green (female) pea cross,
three yellow peas were produced for every green
pea in the F2 generation, - Independent of which parent carried the dominant
trait...
32Dominant vs. Recessive Traits
x
P
F1
The trait that appears in the F1 generation is
the DOMINANT trait. The trait that disappears in
the F1 generation is termed RECESSIVE.
33Nomenclature
- Dominant unit factors are designated with a
capital letter, often (but not always) with the
first letter of the description, - Y yellow,
- V violet,
- T tall,
- Recessive unit factors are represented by small
letters, - y green,
- v white,
- t dwarf,
34Nomenclature IIits not my fault.
- Dominant unit factors are designated with a
capital letter, - G yellow,
- W violet,
- D tall,
- Recessive unit factors are represented by small
letters, often (but not always) with the first
letter of the description, - g green,
- w white,
- d dwarf,
35Mendels First PostulateUnit Factors in Pairs
- Genetic characteristics are controlled by unit
factors that exist in pairs in individual
organisms, - each individual receives one unit factor from
each parent, - in a monohybrid cross, three combinations of unit
factors are possible,
36First Postulate
- in a monohybrid cross, three combinations of
factors are possible, - YY
- Yy
- yy
37Definitions to Know
- Homozygous the unit factors that determine a
particular trait are the same, - YY homozygous dominant,
- yy homozygous recessive,
- Heterozygous the unit factors that determine a
particular trait are different, - Yy heterozygous.
38Mendels Second PostulateDominance/Recessiveness
- When two unlike unit factors are present in a
single individual, one unit factor is dominant to
the other, which is said to be recessive.
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40Unlike Unit Factors Alternate Forms of the
Same Gene Alleles
41Unit Factors Genes
- three combinations of alleles are possible,
- YY
- Yy
- yy
42Molecular Alleles
43Mendels Third PostulateSegregation
- During the processes of heredity, the paired unit
factors separate so that the offspring receives
one unit factor from each parent, - The unit factors segregate to offspring randomly.
44When Unit Factors Separate
- Two Unit Factors Diploid
- One Unit Factor Haploid
- During Gamete formationUnit Factors Separate
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46Mendels First Three Postulates
- Unit Factors in Pairs
- Dominance/Recessiveness
- Segregation
47More Definitions to Know
- Phenotype observable trait(s),
- Genotype the actual alleles present in an
individual.
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49Postulates 1-3 AppliedP - F1 Generation
- P Yellow Green Phenotype
- YY yy Genotype
- Gametes Y y
- Yellow Phenotype
- F1 Yy Genotype
-
50Postulates 1-3 AppliedF1 - F2 Generation
- Yellow Phenotype
- F1 Yy Genotype
- F1 Self-Cross Yy (microsporocyte) Yy
(megasporocyte) - Gametes Y or y Y or y
- F2
Yy
Yy
yy
YY
513 1
- 1 1 1
1 - Yellow Yellow Yellow
Green - F2 YY Yy Yy yy
- homozygous heterozygous
heterozygous homozygous - dominant recessive
52Generations
Generation Parental (P) First Filial
(F1) Second Filial (F2)
yellow pea green pea (pollen)
(eggs)
x
grow plants,cross pollinate
grow, allow to self-fertilize
all yellow
6022 yellow 2001 green 3 1
53Punnett Squares
gametes Parent 1
YY
Yy
YY
Yy
Predicted Offspring In Squares
gametes Parent 2
54Back to the Moravians
- So, youve got a prize ram, how do you tell its
not a dud dad? - S stud
- s dud
- SS or Ss?
55Test Cross
- Your ram has a stud phenotype, but unknown
genotype, - cross it to a homozygous recessive individual,
Ss
Ss
Ss
Ss
ss
ss
Ss
Ss
all studs
half studs, half duds
56Test Cross
- Your ram has a stud phenotype, but unknown
genotype, - cross it to a homozygous recessive individual,
SS x ss
Ss x ss
The phenotypic ratio is the same as the allele
ratio in the tested parent!
57Ram x Ewe yields 1-2 Lambs
- test cross on a ram of unknown genotype,
- if one offspring is a Dud, you should know the
Rams genotype, - if first offspring is a Stud, what do you know?
...nothing! - its a 50 / 50 expected
outcome if Ram is Ss, second offspring 50 / 50
too, if Ss, etc.
58Probability and Chance
- Chance 100 50
0 -
- Probability 1
0.5 0
59Laws of Probability
- Product Law the probability of two or more
independent outcomes occurring is equal to the
product of their individual probabilities.
P(two straight Heads) p(H) x p(H) .25
If independent, then p(seeing a Professor w/
Gourd) .009
HoweverI am dependent (linked) to Gourds, so
60Laws of Probability
- 1 Stud sheep offspring .5 ...if heterozygote
parent. - 2 Stud sheep offspring .5 x .5 .25
- 3 Stud sheep offspring .5 x .5 x .5 .125
- 8 Stud sheep offspring .5 x .5 x .5 x .5 x .5 x
.5 x .5 x .5 .004 - 10 stud sheep offspring .001 0.1
- or, you have a 99.9 chance that your Ram is a
Stud.
61Mendels Forth PostulateIndependent Assortment
- How do two pairs of alleles segregate in the
offspring of an individual that is heterozygous
for two genes at the same time?
62Dihybrid Crosses
- Monohybrid Cross,
- one set of contrasting traits,
- Y versus y.
- R (round) versus r (wrinkled).
- Dihybrid Cross,
- YYRR x yyrr,
63Dihybrid Cross,
phenotype genotype gametes genotype
- yellow/round
green/wrinkled - YYRR x yyrr
- YR yr
- YyRr
P F1
64Dihybrid Cross,
- yellow/round
- YyRr
- YR Yr yR yr
-
phenotype genotype gametes genotype
F1 F2?
65Gamete Formation in F1 Dihybrids
Y y R
r
genotype gametes
YR
Yr
yR
yr
probability
.25
.25
.25
.25
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67Mendels Results(phenotypes)
68Probability
- Chance 100 50
0 - Probability 1 0.5 0
69Laws of Probability
- Product Law the probability of two or more
independent outcomes occurring is equal to the
product of their individual probabilities.
70Monohybrid Cross
- P YY x yy
- F1 Yy
- Gametes Y y Y
y - 1/2 1/2 1/2 1/2
- F2
71Sum Law
- The probability of an outcome that can occur in
more than one way is the sum of the probabilities
of the individual events.
72 Random Segregationsum law
-
- F2 YY Yy yY yy
-
- 1/4 YY 1/4 Yy 1/4 yY
1/4 yy -
1/4 YY 1/2 Yy 1/4 yy
73Problem
- You cross YYRr x YyRr individuals.
- What are the expected phenotypic ratios?
- use a Punnett Square, and/or probability
calculations to get your answer.
74YYRr x YyRr
YR
YR
Yr
Yr
YR
YR
YR
YR
YR
12
YR
YR
Yr
Yr
YR
YR
Yr
Yr
Yr
Yr
Yr
Yr
Yr
YR
YR
Yr
Yr
yR
4
yR
yR
yR
yR
YR
YR
Yr
Yr
yr
yr
yr
yr
yr
75The Key
1
1/2
1/2
1
1/4
1/2
1/4
1/2
1/2
1
Assignment Correlate this with the observed
phenotype.
76Using Probability
YYRr x YyRr
YY x Yy Rr x Rr
YY or Yy RR Rr rr
(p) Y_ 1
(p) R_ .75
Product Rule (p) Y_R_ .75
(p) ss .25
Product Rule (p) Y_rr .25
77Forked-Line MethodYyRr x YyRr (Genotypes)
78Why use Forked-Line Method?
- Based on a classic dihybrid cross (YyRr x YyRr),
what is the probability that an organism in the
F2 generation will have round seeds and breed
true for green cotyledons?
79OK?
YR
Yr
yR
yr
YYRR
YYRr
YyRR
YyRr
YR
YYrr
Yyrr
YYRr
YyRr
Yr
yyRR
yyRr
YyRR
YyRr
yR
YyRr
Yyrr
yyRr
yyrr
yr
3/16 p 0.1875
80Better
3/16 p 0.1875
81Best (?)
82Forked-Line Method(phenotypes)
83Example
- P Rr YY x rrYy
- Probability Rr YY in offspring
1/2 Rr
1/2 rr
84Example
- P Rr Yy x RRYy
- Probability of Rr Yy in offspring
1/2 Yy
85Using Probability
YYRr x YyRr
YY x Yy Rr x Rr
YY or Yy RR Rr rr
(p) Y_ 1
(p) R_ .75
Product Rule (p) Y_R_ .75
(p) ss .25
Product Rule (p) Y_rr .25