PRE-CLASS QUESTIONS. VARIANT of FRIDAY?

You breed a self-compatible plant that exhibits three dominant traits:

1. flower color (A –yellow, a - white);
2. leaf shape (B – entire, b - toothed); and
3. seed shape (C- round; c - flat).
The recessive characters for these three are: a) flower color = white
(aa); leaf shape = toothed (bb); and seed shape = flat (cc). You conduct
a test cross with a homozygous recessive (aabbcc) to genotype your
unknown plant.

The resulting F1 generation has the following results: approximately

equal quantities of:
1) Yellow flowered, entire leafed, round seeded (A_B_C_;
(2) Yellow flowered, toothed leafed, round seeded (A_bbC_
(3) White flowered, toothed leafed, round seeded (aabbC_)
(4) White flowered, entire leaved, round seeded (aaB_C_).

• The unknown parental genotype is:

• 1: AABBCC 2:AABbCC 3: AABBCc
• 4: AaBBCC 5:AaBbCC 6: AaBBCc
• 7: AABbCc 8:AABbCc 9: AaBbCc
EPISTASIS
So, did mendelian genetics solve the inheritance problem?

1. Biometricians vs. Mendelians

• Biometricians held that Darwin was right, and that all evolution
proceeded by the gradual accumulation of small, incremental changes.
• Thought that mendelian traits, with their large phenotypic effects, were
special cases.

2. Mendelians believed that natural selection on continuous variation was

ineffective, and could never produce truly new types.

• Mutations of major effect were key in the evolutionary process,

especially the evolution of new types/species.

3. Quantitative genetics/polygenic traits to the rescue!

Polygenic traits

• However, maybe this looks more like

Darwin’s ideas about blending?
• Let’s take a look back.
 Development of a theory of inheritance

Wilhelm Waldeyer
identifies Morgan eats crow &
CHROMOSOMES admits that
deVries, Correns,
CHROMOSOMES
& von
Weissmann proposes Johannsen BEAR
Seysennegg
Mendel proposes existence of that hereditary distinguishes PARTICULATE
REDISCOVER
HEREDITARY PARTICLES particles reside on between GENOTYPE UNITS OF
MENDEL’S WORK
chromosomes VS PHENOTYPE INHERITANCE!

1865 1868 1889 1892 1897 1900 1902 1905 1909 1910 1915

Darwin proposes E. B. Wilson describes Wilson & Sutton Morgan argues against
that gemmules behavior of chromosomes identify sex role of chromosomes in
transmit traits during embryo development chromosomes inheritance

Hugo de Vries Wilson & students confirm

develops concept of MEIOSIS IS REDUCTION
pangenes (special DIVISION FOR GAMETES
particles for every
hereditary character)
Did mendelian genetics solve the inheritance problem?
• Mendel’s characters were discrete and
qualitative (red or white, smooth or
wrinkled).
• For most traits, phenotypes vary continuously
over a range—quantitative variation, or
continuous.
 Nilsson-Ehle (1909) to the rescue: effects of multiple
loci on wheat chaff color
• 3 loci (A, B, & C), each with 2 alleles (A,A’; B,B’; C,C’) each
contributes equally to the color of the chaff in wheat.

Polygenic Traits
 How multiple loci lead to continuous/quantitative
variation
• When a large enough number of genes influence a character, it
will have a continuous, normal frequency distribution.

Discrete phenotypic classes Continuous phenotypic variation

When multiple genes control the expression of a trait

• Mendel’s characters were discrete and qualitative.

• For more complex characters, phenotypes vary continuously
over a range—quantitative variation, or continuous.
• (Quantitative variation is usually due to both genes and
environment (environment can determine expression).)
 Most quantitative characters are controlled by multiple
genes: they are POLYGENIC
Pleiotropy
Examples: leg length, arm length; PKU ( phenylketonuria),

Pleiotropy
 Now where to?
• Quantitative Characters
• Moving from individual genotypes to
characteristics of populations
– Remember, natural selection acts of the
individual to create changes in the distribution
of characters in the population.
– In order to understand selection, we need to
be able to characterize the population.
• Hence, POPULATION GENETICS
 Key Concepts
• We can look at a population as a big mixed
set of alleles and we can calculate allele
frequencies if we know genotype
frequencies.
• We can also calculate expected genotype
frequencies IF we know allele frequencies.
• There are some simple rules that guide us:
frequencies sum to 1; the multiplication and
addition rule of probabilities still apply.
 Population Genetics.
1. Multiplicative Rule, Additive Rule
0.5 0.5

0.5 0.25 0.25

0.5 0.25 0.25

What is the probability of drawing:
COLOR Package 1
Two red:
Red 21 (0.123)
Green 33 (0.193) Green and yellow:

Yellow 25 (0.146) Two green:

Blue 30 (0.175)
Orange and brown:
Orange 33 (0.193)
Just to hammer this home:
Brown 29 (0.170)
TOTAL (n) 171
A red, green and a blue**

Simple conditional probabilities **-math problem, not a genetics problem

 Convince yourself.
Red Green Yellow Blue Orange Brown

0.123 0.193 0.146 0.175 0.193 0.17

Red 0.123 0.015129 0.023739 0.017958 0.021525 0.023739 0.02091

Green 0.193 0.023739 0.037249 0.028178 0.033775 0.037249 0.03281

Yellow 0.146 0.017958 0.028178 0.021316 0.02555 0.028178 0.02482

Blue 0.175 0.021525 0.033775 0.02555 0.030625 0.033775 0.02975

Orange 0.193 0.023739 0.037249 0.028178 0.033775 0.037249 0.03281

Brown 0.17 0.02091 0.03281 0.02482 0.02975 0.03281 0.0289

 Population Genetics
Allele Frequencies, Genotype Frequencies,
5
N = 50 individuals
30 Finding p and q
A2A2
A1A2
15 A1A2 A1A2 p= freq of A1=
A 1 A1
A1A2
A1 A2 A1 A1 q = freq A2=
A1A1 A2A2 A 1 A1
A1 A1 A2A2 A1A2 A1A2
A1A2 A1A2 p+q=1
A1A2
A1A1 A1A1 A1A1
A1A2 A1A2 A1A2
A1A2 A1A1 A1A2
A1A2 A1 A 2 If we can estimate the frequency
A 2 A2 A1A2 A 2 A2 A1 A1 of alleles (p, q), then we can
A1A1
A1 A2 estimate the probability of
A 1 A2
A1A2
A1A1
A1A2 encountering a genotype.
A1 A2 A1A1
A1 A 2
A1A2 A1A2
A 1 A1 A 1 A1
A1A2
A1A2 A1A2
A1A2
 Population Genetics
Allele Frequencies from Genotype Frequencies

An example from
the textbook...

p = _________________
q = _________________

Mix into giant bag (gene pool)... Text Fig 22.7

 Population Genetics
The Hardy-Weinberg Equilibrium

Generation II

AA =___________
Aa = ___________
Aa = ___________

p = 0.55
q = 0.45

0.55(2) = 0.3025; 2*.45*.55 = 0.495; 0.45(2) = 0.2025 Text Fig 22.7

Make Sense?
 Population Genetics p2 pq
Some FUN! Problems pq q2
IF p = _____, and q = _____
f(AA) = f(Aa) = f(a,a)
a,a =

IF p = _____, and q = _____

f(AA) = f(Aa) = f(aa)
aa =

IF p = _____, and q = _____

f(AA) = f(Aa) = f(aa)
aa =

IF p = _____, and q = _____

f(AA) = f(Aa) = f(aa)
aa =
(HWeq)
 Population Genetics p2 pq
The Hardy-Weinberg Equilibrium pq q2
IF p = _____, and q = _____
f(A1A1) = f(A1A2) = f(A2A2) =

p q r p q r p + q + r = _______

p p2 p*q p*r p p =

q p*q q2 q*r q q =

r p*r q*r r2 r r =

3 alleles!!!
 Population Genetics
The Hardy-Weinberg Equilibrium

H-W Equilibrium: a fundamental theorem of population genetics

• The H-W theorem makes a set of null predictions about expected allelic and
genotypic frequencies
• If the observed values of genotypic frequencies do not match those expected
at H-W equilibrium, THEN SOME EVOLUTIONARY PROCESSES MUST BE
ACTING ON THE GENE POOL
 Which populations are at
Hardy-Weinberg Equilibrium?
1. p = 0.75; q = 0.25 ?
2. p = 0.75; q = 0.35 No
3. AA = 214; Aa = 428; aa = 214
Yes
4. AA = 320; Aa = 160; aa = 20
5. f(AA) = 0.35; f(Aa) = 0.70; f(aa) = 0.35 Yes
No
6. f(AA) = 0.55; f(Aa) = 0.30; f(aa) = 0.15
No
7. f(AA) = 0.64; f(Aa) = 0.32; f(aa) =0.04
 Population Genetics
The Hardy-Weinberg Equilibrium

Things that follow from the H-W equilibrium:

1. At H-W equilibrium, genotypic frequencies will be determined
solely by allelic frequencies

2. Note that when there are 2 alleles, and p = q = 0.5, the

expected ratio of homozygotes to heterozygotes is 1:2:1, as it
was for Mendelian inheritance
 Population Genetics
The Hardy-Weinberg Equilibrium

H-W Equilibrium: a fundamental theorem of population genetics

• The H-W theorem makes a set of null predictions about expected allelic and
genotypic frequencies
• If the observed values of genotypic frequencies do not match those expected
at H-W equilibrium, THEN SOME EVOLUTIONARY PROCESSES MUST BE
ACTING ON THE GENE POOL
 Coming up this week
Tuesday Wednesday and Friday
• Sexual Selection • Why populations may not
– Why do we have amazing be at Hardy Weinberg
examples of gaudy equilibrium
animals?
– Natural selection
• Kin Selection – Mutation
– Why do individuals help – Non-random mating
their kin? Should they?
– Drift
• (Exam results) – etc.
– Exams handed back in labs
– Pop quizzes??
That is it for
today.