Questions for Recitation #4

02/24/16
 Question 3. It has been well established that telomeres become shorter with
age in most proliferating tissues. Older men, however, tend to have sperm with longer
telomeres compared to those of younger males.

(A) Propose a simple hypothesis to account for the abovementioned

observation and a way to experimentally test it.

(B) Do you think older females would have oocytes with longer telomeres?
Explain your reasoning.

(C) What individuals (mention sex, age and familial relationships) would you
like to enroll in a study to test if there is a positive correlation between paternal age and
the length of telomeres in their children. Briefly describe the study design of your choice.

(D) In your study in part (C) you have uncovered a positive correlation between
the age of fathers and the length of telomeres in their children: on average, older fathers
tend to pass on longer telomeres to their children. You are aware of numerous scientific
studies suggesting that children of older fathers have increased risk of developmental
and behavioral disorders, breast cancer, neurological disease and cardiac defects. Are
those findings consistent with your data? Explain your reasoning.
 Question 4. Idiopathic pulmonary fibrosis (IPF) is an age-related lung disease
that can result from a defect in telomerase function. A pedigree of a family with a
germline deletion in the Box H domain of the RNA component (hTR) of telomerase is
depicted below.

(A) How is this pedigree consistent with a predicted telomerase defect? Be specific.
(B) As you study more IPF pedigrees, you realize that the age of disease onset is highly
variable and the penetrance of IPF caused by this hTR mutation is incomplete. You are
also aware that lung is considered to be a non-proliferating tissue with low or absent
telomerase activity. Come up with the best explanation of how hTR mutation in the
proband and her sister could have contributed to their disease.
•In Drosophila, seven partial deletions (1 to 7) are shown as gaps in the diagram below.
This region contains gene/genes that might be responsible for the phenotype. A
researcher wants to determine which region is responsible and cross lines with one copy
of deleted chromosome to lines homozygous for mutant allele. The progenies are scored
whether they have the mutant phenotype. The results are in the table (m for mutant
phenotype, and + for WT phenotype):

1 2 3 4 5 6 7
Phenotype + + M M + M +

1)Which region is responsible for the proper expression of the phenotype?

2)If we cross the line heterozygous for deletion 4 with the line heterozygous for deletion
3, what would you expect the phenotypic ratio of the WT vs. mutant offspring?
3)If there is a 15% chance of recombination between region g and d, what would be
phenotypic ratio of WT vs. mutant offspring?
•Explain how balancer chromosomes could be used to stably propagate an
autosomal recessive lethal mutation if the balancer chromosome is
homozygous viable but carries a recessive sterile allele that eliminates both
ovaries and testes. Assume the balancer is marked with a dominant mutation
Ha that produces flies with many extra hairs.

a)What phenotypes, and in what proportions, would you expect in the stable
stock?

a)If you want to stably propagate an X-linked lethal mutation with a balancer
chromosome containing a recessive sterile allele, would you use a female-
specific sterile, a male-specific sterile, or a non sex-specific sterile mutation?
A) How much do we know about the original genotypes of the flies
we crossed?

B) DRAW a chromosome map as best you can using the info

above.