Biology 234
Week 10 Tutorial
Mutagenesis and transposable elements
Attempt these questions before coming to tutorial.
For extra practice try to answer the learning objectives.
Relevant Learning Objectives:
1. Device cross schemes for mutagenesis experiments
2. Predict when mutant phenotypes will emerge depending on the organism/mating systems
3. Use linkage information to locate the causal allele
4. Infer and predict transposable element activity and inactivity.
Biology 234
Week 10 Tutorial
Part 1 :
1. Arabidopsis thaliana seeds were soaked in EMS to induce mutations. Each seed is then planted
to establish individual plants. This is known as the M1 generation. Each individual plant is then
self-crossed generating offsprings known as the M2 generation. Self-crossing M2 individuals
will produce the M3 generation and so on.
a. One plant in the M1 generation was found to produce heart-shaped leaves. After self-
crossing this individual, you collected and planted the resulting seeds to generate the M2
individuals. Most of the seeds grew and develop into either individual plants with heart-
shaped leaves or wildtype leaves, but some seeds did not grow. Provide a reasonable
explanation for how the EMS-induced mutation(s) cause the observed inheritance pattern.
b. The observed phenotypes in M2 are due to mutations at two genes: one dominant causing
heart-shaped leaves and the other recessive causing seeds to not grow. If the two genes are
on two different chromosomes, what is the ratio of phenotypes in the M2s? (Hint: Draw the
punnet square)
c. If the two genes are completely linked (i.e 0 map unit), what is/are the expected proportion
of M2 phenotypes?
Biology 234
Week 10 Tutorial
d. Provide a plausible scenario in which only 1 mutation is causing the observed M1 and M2
phenotypes. And predict the M2 phenotype ratios.
e. You identified two M1 plants that produce M2 offsprings where 1/4 have curled leaves
(and 3/4 wildtype leaves). After establishing the two respective curled leaves strains into
true breeding strains, you cross them to each other. The resulting F1 plants have wildtype
leaves. You self a F1 plant, and observed a ratio of 9 wildtype plants to 7 curled leaves
plants in the F2s. Explain the genetic basis for the observed transmission patterns and
phenotypes.
2. Drosophila in the M0 generation are fed EMS to induce mutagenesis which are then crossed to
wildtype flies creating M1s.
a. After EMS treatment, some of the M0 flies show mutant phenotypes like reduced lifespan.
Do you expect the M1 offsprings of these individuals to also have reduced lifespan? Explain
b. For one M1 fly, design a cross scheme to reveal potential recessive mutations induced in
M0.
c. Not having taken BIOL 234, your lab mate thought he could take a shortcut, and crossed M1
flies with each other. Do you expect the resulting progenies to reveal recessive mutations?
d. For one of your M1 crosses, a M1 female was crossed to the wildtype. In the M2s, half of the
sons are unable to mate with females while the other half and all females are wildtype.
What are possible explanations for this observed phenotype?
Biology 234
Week 10 Tutorial
e. After a crap load of work crossing mutant flies into the M3 generation, you identified a
recessive mutant that causes flies to be sterile. Can you establish a true breeding line of this
mutation?
f. If a mutation is a recessive lethal, how can you identify the mutant phenotype?
3. Below are three genes in maize that are in close linkage. The wildtype dominant allele of the
gene colorless (C) produces purple pigmentation in the kernels, while the recessive alle (c)
creates white kernels. The wildtype dominant allele of the gene shrunken (Sh) produces plump
kernels and the recessive allele (sh) produces shrunken kernels. Lastly the wildtype dominant
allele of the gene waxy (Wx) creates starchy kernals, while the recessive allele (wx) produces
waxy kernals. The three genes are arranged in the below configuration:
a. You crossed pure breeding purple, plump, and starchy strain with a pure breeding white,
shrunken, and waxy strain. What is the phenotype of resulting cross.
b. Despite your prediction, the above cross produced ears of corn that have random sectoring
in the kernel. Some sectors are purple, plump and starchy, other sectors are white,
shrunken, and starchy. Provide an explanation for the genetic basis of the observation.
c. In some rare kernels, there is white sectoring but those sectors are plump and starchy.
Provide an explanation.
Biology 234
Week 10 Tutorial
d. Crossing the breeding purple, plump, and starchy strain from above to a different pure
breeding white, shrunken, and waxy strain. You obtained ears of corn with kernels that are
all purple, plump, and starchy. What is causing the difference in this cross versus the above
cross?
e. Explain why retrotransposon cannot generate the sectoring phenotype in 3b but can
generate the phenotype in 3c.
