Smooth/Wrinkled peas is a result

Lecture Outline 10/4

of starch content
From Gene to Phenotype • Whole plant level: recessive
• Degrees of dominance
• Physiological level: Incomplete
• Multiple alleles dominance
• Gene interactions – Heterozygous plants have less
– Altered Mendelian ratios starch than homozogous smooth

– Lethal alleles
• Molecular level: co-dominant
– Analysis of biochemical pathways

Several alleles for coat color

Composite cross:
in rabbits
• 4 alleles at a single Make two F1s:
locus Normal x Himalayan
– Different defects in the
and
pigment gene
Chinchilla x albino
• What kinds of offspring
would you expect from
these crosses:
C>cch>ch>c • Now cross the two different F1s
– Normal x albino?
• What are the phenotypic ratios in the F2?
– Chinchilla x Himalayan?
Normal > chinchilla >
Himalayan > albino
See http://home.pacbell.net/bettychu/genetics.html for more about rabbit color genes

Epistasis Another example

• Black Lab x Yellow Lab
Gene interactions may modify the – Two genes:
phenotypic ratios • B determines types of
pigment (B=black, b=brown
or chocolate)
• Example: • E determines deposition of
pigment on hair (E =
Agouti, albino and black mice: pigment on hairs, e = none)
– two genes give only three F2 – Cross BBEE x bbee
phenotypes • F1 = ??
• F2 = 9:4:3
(black:yellow:brown)
A locus controls deposition pattern e is epistatic to B and b
B locus controls pigment production
There is also a third interacting gene. Black coat color (C) is dominant to
brown (c). What would you expect from the trihybrid cross
AaBbCc x AaBbCc?

1
 Redundant genes Epistasis: things to remember:
• Fruit shape in Shepherd’s
Purse • The alleles are inherited just as before, and the
– Most plants have triangular genotypic ratios in the F1 and F2 are just the same.
fruits; occasionally you find a
plant with round fruits. • The interaction of gene products can affect the
phenotypes, but the genes are still genes, following
• Cross Round x Triangular the same rules.
– F1: all Triangular
– F2: 1/16 round, all the rest are • Don’t try to memorize all of the different ratios
triangular
(12:3:1, 9:6, etc). Instead, relate them back to
• Propose a mechanism to
explain those results combinations of the familiar 9:3:3:1

Dominant Epistasis Duplicate recessive epistasis

• White squash x green squash • White flowers can arise from defects in
• F2 gives 12:3:1 white, yellow, green in several different genes (e.g. DFR and
– Why? ANS)
• Cross two purple morning glories and
see 9:7 purple:white offspring- WHY?

Gene interactions Lethal Alleles

• Sometimes two genes interact to • Sometimes one genotypic class is
produce novel phenotypes: missing, so you can get 2/3: 1/3 ratios
– Comb type in chickens
» R-P- = walnut; R-pp: rose; rrPP=pea; rrpp=single
• Lethal alleles are commonly recessive.
» Crosses fit Mendelian expectations (9:3:3:1), but – Example from book: Yellow mice
instead of combinations of two characters, they
produce four types of a single character
– Colors of bell peppers – You can get this from a loss of function
• 9:3:3:1 mutation in any essential gene
• R:Y:Br:G

2
 Yellow mice Temperature sensitive genes
• Yellow is an allele at the agouti
locus • Himalayan rabbits and
• Cross yellow x yellow Siamese cats have light-
– Observe 2:1 yellow vs black colored bodies with dark fur
– Why? Yellow homozygotes die on their paws, nose, ears,
and tail
• The same allele has two
phenotypes: color and survival – All cells of these animals carry
• Is it dominant for color?
the same genes for pigment
production, but the
• Is it dominant for survival?
environment determines
phenotypic pattern of
expression

Variation in Gene Expression Expressivity

• Expressivity • Heterozygotes for lobe eyes in Drosophila show
– Means that the expression is variable variable expressivity.
• Lobe eyes in Drosophila may be pronounced or weak – All have the same genotype, but different expression of the
trait.

• Incomplete Penetrance
– Means the trait is not expressed in 100% of the
individuals
• BRCA1 is well known gene for breast cancer, but
inheriting the gene does not mean you will necessarily
get cancer.

Suppressors can restore

Incomplete Penetrance
normal phenotype
• Polydactyly:
– Here a dominant trait skips a generation in the
pedigree.

3
 Two genes are both required Two genes are sequential in a
to make a product pathway
Substrate 1 A Substrate 1 What offspring phenotypes would you expect if
A you give them an external source of Substrate 2?

Product
Substrate 2 Product
B

Substrate 2
B Cross A/a B/b x A/a B/b
Cross A/a B/b x A/a B/b What offspring do you expect?
What offspring do you expect?

Deducing the order of Deducing the order of

biochemical pathways biochemical pathways
“+” means the mutant can grow
• Assume substrates A, B, C, D are all in the
same pathway. Mutant Substrate added
A B C D
• Collect several mutants that cannot grow on 1 + + + +
minimal medium, but can grow if those 2 + + +
substrates are added.
3 + +
4 +
• Assume mutants each block an (unknown)
step of the pathway
A B C D product

Deducing the order of

Now try this one:
biochemical pathways
What is the order of A-D in the pathway?
“+” means the mutant can grow
Which step does each mutant block?
Mutant Substrate added Mutant 3 must act
A B C D somewhere before C, Mutant Substrate added
1 + + + + because adding
2 + + + substrate C restores
A B C D
3 + + growth 1 + + + +
4 +
2 + 0 + 0
1
A
2
B
3
C
4
D product 3 + 0 + +
4 0 0 + 0
Mutations early in the pathway are “rescued” by
more different substrates