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1

Anticodons are located in

(A) mRNA.
(B) rRNA.
(C) tRNA.
(D) snRNP.
(E) hnRNP.
1
Anticodons are located in
(A) mRNA.
(B) rRNA.
(C) tRNA.
(D) snRNP.
(E) hnRNP.

Each tRNA possesses a triplet of nucleotides, called an anticodon, which


recognizes the complementary codon in mRNA
2
DNA is duplicated in the cell cycle during the

(A) G2 phase.
(B) S phase.
(C) M phase.
(D) G, phase.
(E) G0 phase.
2
DNA is duplicated in the cell cycle during the
(A) G2 phase.
(B) S phase.
(C) M phase.
(D) G, phase.
(E) G0 phase.

The S (synthesis) phase of the cell cycle is the period during which DNA
replication and histone synthesis occur, resulting in duplication of the
chromosomes. At the end of the S phase, each chromosome consists of two
identical chromatids attached to one another at the centromere
3
A bacterial mutant grows normally at 32°C but at 42°C accumulates short
segments of newly synthesized DNA. Which one of the following enzymes is most
likely to be defective at the nonpermissive temperature (the higher temperature) in
this mutant?
(A) DNA primase
(B) DNA polymerase
(C) An exonuclease
(D) An unwinding enzyme (helicase)
(E) DNA ligase
3
A bacterial mutant grows normally at 32°C but at 42°C accumulates short
segments of newly synthesized DNA. Which one of the following enzymes is most
likely to be defective at the nonpermissive temperature (the higher temperature) in
this mutant?
(A) DNA primase
(B) DNA polymerase
(C) An exonuclease
(D) An unwinding enzyme (helicase)
(E) DNA ligase
The short segments of the newly synthesized DNA that accumulate at 42°C are
Okazaki fragments. They are usually joined together by DNA ligase, which most
likely exhibits reduced activity at 42°C in this mutant. If the ligase is not
functioning, Okazaki fragments would not be joined during replication, so the cells
would contain short fragments of the DNA. Endonucleases and exonucleases
cleave DNA strands in the middle and at the ends, respectively. They do not join
fragments together, nor does DNA polymerase. Unwinding enzymes “unzip” the
parental strands, and if these were defective, DNA synthesis most likely would not
occur at the nonpermissive temperature, and short DNA fragments would not
accumulate.
4
An RNA produced from a fragment of DNA has the sequence of AAUUGGCU.
The sequence of the nontemplate strand in the DNA that gave rise to this
sequence is which one of the following?
(A) AGCCAATT
(B) AAUUGGCU
(C) AATTGGCT
(D) TTAACCGA
(E) UUAACCGA
4
An RNA produced from a fragment of DNA has the sequence of AAUUGGCU.
The sequence of the nontemplate strand in the DNA that gave rise to this
sequence is which one of the following?
(A) AGCCAATT
(B) AAUUGGCU
(C) AATTGGCT
(D) TTAACCGA
(E) UUAACCGA
The nontemplate strand in the DNA is the same as the coding strand, and
will have the same sequence of the RNA that is produced, except that T is in place
of U. Both the nontemplate strand and RNA produced will be a complementary
sequence to the template strand. As all sequences are written in the 5′ to 3′
direction, unless otherwise specified, an RNA sequence of AAUUGGCU would
correspond to a DNA sequence, on the nontemplate strand, of AATTGGCT. The
template strand would be the complement of the nontemplate strand, or
AGCCAATT (written 5′ to 3′). Note that this sequence is also the complement of
the RNA that has been produced. The base U is not found in DNA (so answer
choices B and E cannot be correct).
5
Gene transcription rates and mRNA levels were determined for an enzyme that is
induced by glucocorticoids. Compared with untreated levels, glucocorticoid
treatment caused a 10-fold increase in the gene transcription rate and a 20-fold
increase in both mRNA levels and enzyme activity. These data indicate that a
primary effect of glucocorticoid treatment is to decrease which one of the
following?

(A) The activity of RNA polymerase II


(B) The rate of mRNA translation
(C) The ability of nucleases to act on mRNA
(D) The rate of binding of ribosomes to mRNA
(E) The rate of transcription initiation by RNA polymerase II
5
Gene transcription rates and mRNA levels were determined for an enzyme that is
induced by glucocorticoids. Compared with untreated levels, glucocorticoid
treatment caused a 10-fold increase in the gene transcription rate and a 20-fold
increase in both mRNA levels and enzyme activity. These data indicate that a
primary effect of glucocorticoid treatment is to decrease which one of the
following?

(A) The activity of RNA polymerase II


(B) The rate of mRNA translation
(C) The ability of nucleases to act on mRNA
(D) The rate of binding of ribosomes to mRNA
(E) The rate of transcription initiation by RNA polymerase II
If the rate of degradation of the mRNA is not altered by glucocorticoids, then the
increase in mRNA levels should reflect the increase in transcription rate. Because
the increase in mRNA level is greater than the increase in transcription rate, the
glucocorticoids must also be increasing the mRNA stability (i.e., decreasing the
rate of degradation by nucleases). The activity of RNA polymerase II is increased
(transcription is increased, so transcription initiation is also increased), and the
rate of translation (the binding of ribosomes to mRNA) is increased (the enzyme
activity is increased), owing to the increased amount of mRNA available.
6
A temperature-sensitive cell line would show early senescence when grown at the
nonpermissive temperature, and examination of the chromosomes demonstrated
many 3′ overhangs at the ends of the DNA fragments. The defective enzyme, at
the nonpermissive temperature, is which one of the following?
(A) Telomerase
(B) DNA ligase
(C) DNA polymerase
(D) A repair DNA polymerase
(E) A helicase
6
A temperature-sensitive cell line would show early senescence when grown at the
nonpermissive temperature, and examination of the chromosomes demonstrated
many 3′ overhangs at the ends of the DNA fragments. The defective enzyme, at
the nonpermissive temperature, is which one of the following?
(A) Telomerase
(B) DNA ligase
(C) DNA polymerase
(D) A repair DNA polymerase
(E) A helicase
Telomerase is defective at the nonpermissive temperature. Owing to the dual
requirements of DNA polymerases that they synthesize DNA in the 5′ to 3′ direction, and
their need for a template, replicating the ends of linear chromosomes leads to a 3′ overhang
after the replication is complete. The overhang is created when the DNA–RNA primer is
removed from the template strand, and there is no primer for the DNA polymerase to extend
to fill in the gap. Telomerase solves this problem by carrying its own RNA template, and
extending the 3′ overhang. After the gap is filled in as best it can, telomere-binding proteins
cap the end of the chromosome to protect it from degradation. Lack of DNA ligase would
result in a large number of gaps in the phosphodiester backbone (particularly on the lagging
strand), but would not affect the telomeres. Lack of DNA polymerase activity would lead to
an overall inhibition of DNA replication, and not just affect the telomeres. Lack of helicase
activity would also affect the global DNA replication, not just the replication at the telomeres.
Lack of repair polymerase would increase the amount of damage in the DNA, but would not
specifically target the telomeres.
7
A family, while on a picnic, picked some wild mushrooms to add to their picnic
salad. Shortly thereafter, all the members of the family became ill, with the
youngest child showing the most severe symptoms. The family is suffering
these effects owing to a primary inability to accomplish which one of the following
in their cells and tissues?
(A) Synthesize proteins
(B) Synthesize lipids
(C) Synthesize DNA
(D) Synthesize carbohydrates
(E) Repair damage in DNA
7
A family, while on a picnic, picked some wild mushrooms to add to their picnic
salad. Shortly thereafter, all the members of the family became ill, with the
youngest child showing the most severe symptoms. The family is suffering
these effects owing to a primary inability to accomplish which one of the following
in their cells and tissues?
(A) Synthesize proteins
(B) Synthesize lipids
(C) Synthesize DNA
(D) Synthesize carbohydrates
(E) Repair damage in DNA
The poison in poisonous mushrooms is α-amanitin, an inhibitor of eukaryotic
RNA polymerases, primarily RNA polymerase II. As the family ate the mushrooms
containing the poison, RNA polymerase II stopped functioning, and mRNA was no
longer produced. This led to a lack of protein synthesis. There is no direct effect
on the synthesis of lipids, carbohydrate, or DNA, other than replacing the required
enzymes due to protein turnover. However, the net effect of α-amanitin poisoning
would be to stop protein synthesis, which may then lead to a cessation of lipid or
DNA synthesis. α-Amanitin has no direct effect on DNA repair.
8
A newborn has found to be very photophobic, and his skin burns even with minimal exposure
to sunlight, eventually forming skin blisters. Neither parent exhibits this trait, although both
are prone to burning when in the sun for a short period of time. As the child grows, he is
found to be at average height and weight for his age, and is progressing normally along the
developmental guidelines. He is, however, kept inside at all times, and is carefully wrapped if
he has to leave the house. Fibroblasts isolated from this child are grown in culture, and in an
experiment, exposed to UV light. An analysis of the fibroblast DNA will demonstrate which
one of the following?

(A) A preponderance of apurinic sites and apyrimidinic sites


(B) An increase in sister chromatid exchange rate
(C) A preponderance of abnormal base pairs in the DNA
(D) Loss of telomeres within the DNA
(E) An increase in cross-linked bases within the strands of DNA
8
A newborn has found to be very photophobic, and his skin burns even with minimal exposure
to sunlight, eventually forming skin blisters. Neither parent exhibits this trait, although both
are prone to burning when in the sun for a short period of time. As the child grows, he is
found to be at average height and weight for his age, and is progressing normally along the
developmental guidelines. He is, however, kept inside at all times, and is carefully wrapped if
he has to leave the house. Fibroblasts isolated from this child are grown in culture, and in an
experiment, exposed to UV light. An analysis of the fibroblast DNA will demonstrate which
one of the following?

(A) A preponderance of apurinic sites and apyrimidinic sites


(B) An increase in sister chromatid exchange rate
(C) A preponderance of abnormal base pairs in the DNA
(D) Loss of telomeres within the DNA
(E) An increase in cross-linked bases within the strands of DNA
The child has XP, a defect in nucleotide excision repair such that thymine
dimers, created by exposure to UV light, cannot be removed from the DNA. XP will
not affect the repair of apurinic or apyrimidinic sites (sites missing just the base
from DNA, which requires the AP endonuclease for repair). An increase in sister
chromatid exchange rates is a finding in Bloom’s syndrome, which is a defect in a
helicase required for both DNA and RNA syntheses. Patients with Bloom’s
syndrome are small for their age, unlike those with XP who follow normal
developmental milestones. XP does not result in unusual base pairs in DNA,
rather the formation of thymine dimers between the adjacent T residues in one
strand of DNA. These T residues are still complementary to the A residues in the
other strand. XP does not affect the ability of telomerase to extend the ends of the
linear chromosomes in the cell.
9
A 15-year-old boy was diagnosed with skin cancer. He had always been sensitive
to sunlight, and had remained indoors for most of his life. An analysis of his DNA,
from isolated fibroblasts, indicated an increased level of thymine dimers when the
cells were exposed to UV light. The boy developed a skin tumor owing to an
increased mutation rate, which was caused by which one of the following?
(A) A lack of DNA primase activity
(B) Decreased recombination during mitosis
(C) Increased recombination during mitosis
(D) Loss of base excision repair activity
(E) Loss of nucleotide excision repair activity
9
A 15-year-old boy was diagnosed with skin cancer. He had always been sensitive
to sunlight, and had remained indoors for most of his life. An analysis of his DNA,
from isolated fibroblasts, indicated an increased level of thymine dimers when the
cells were exposed to UV light. The boy developed a skin tumor owing to an
increased mutation rate, which was caused by which one of the following?
(A) A lack of DNA primase activity
(B) Decreased recombination during mitosis
(C) Increased recombination during mitosis
(D) Loss of base excision repair activity
(E) Loss of nucleotide excision repair activity
The damage to the DNA caused by UV light (pyrimidine dimers) can be repaired
by the nucleotide excision repair pathway. In some cases, the missing enzyme is a
repair endonuclease. The boy has XP, as determined by the increase in thymine
dimers in his DNA after exposure to UV light. Since the dimers cannot be repaired,
the DNA polymerase will “guess” when replication occurs across the dimers,
increasing the mutation rate of the cells. Eventually, a mutation occurs in a gene
that regulates cell proliferation, and a cancer results. An increase or decrease in
mutation rate is not related to the rate of recombination during mitosis, nor to a
lack of DNA primase activity (which would lead to reduced DNA synthesis, not
inaccurate DNA synthesis). Base excision repair is normal in patients with XP.
10
A woman has been complaining of a burning sensation when urinating, and a
urine culture demonstrated a bacterial infection. The physician placed the woman
on ciprofloxacin. Ciprofloxacin will be effective in eliminating the bacteria because
it interferes with which one of the following processes?
(A) mRNA splicing
(B) Initiation of protein synthesis
(C) Elongation of protein synthesis
(D) Nucleotide excision repair
(E) DNA replication
10
A woman has been complaining of a burning sensation when urinating, and a
urine culture demonstrated a bacterial infection. The physician placed the woman
on ciprofloxacin. Ciprofloxacin will be effective in eliminating the bacteria because
it interferes with which one of the following processes?
(A) mRNA splicing
(B) Initiation of protein synthesis
(C) Elongation of protein synthesis
(D) Nucleotide excision repair
(E) DNA replication
The quinolone family of antibiotics (which includes ciprofloxacin) inhibits DNA
gyrase, a prokaryotic-specific topoisomerase involved in unwinding the DNA
strands for replication to occur. In the absence of gyrase activity, there would be
no DNA replication, and the bacteria would not be able to proliferate. The
quinolones do not affect eukaryotic topoisomerases. Splicing of hnRNA only
occurs in eukaryotic cells. The gyrase is neither involved in nucleotide excision
repair, nor in any aspect of protein synthesis.
11
A 47-year-old woman, who has been on kidney dialysis for the past 7 years, has
developed jaundice, fatigue, nausea, a low grade fever, and abdominal pain. A
physical examination indicates a larger-than-normal liver, and blood work
demonstrates elevated levels of aspartate aminotransferase (AST) and alanine
aminotransferase (ALT). The physician places the patient on two drugs, one of
which is a nucleoside analog, geared to inhibit DNA and RNA syntheses. The
primary function of the other drug is to do which one of the following?
(A) Inhibit DNA repair in infected cells
(B) Enhance the rate of the elongation phase of protein synthesis
(C) Reduce the rate of initiation of protein synthesis
(D) Inhibit ribosome formation
(E) Promote ribosome formation
11
A 47-year-old woman, who has been on kidney dialysis for the past 7 years, has
developed jaundice, fatigue, nausea, a low grade fever, and abdominal pain. A
physical examination indicates a larger-than-normal liver, and blood work
demonstrates elevated levels of aspartate aminotransferase (AST) and alanine
aminotransferase (ALT). The physician places the patient on two drugs, one of
which is a nucleoside analog, geared to inhibit DNA and RNA syntheses. The
primary function of the other drug is to do which one of the following?
(A) Inhibit DNA repair in infected cells
(B) Enhance the rate of the elongation phase of protein synthesis
(C) Reduce the rate of initiation of protein synthesis
(D) Inhibit ribosome formation
(E) Promote ribosome formation
The patient has an acute version of hepatitis C infection, which primarily affects
the liver and its function. The two-drug treatment for hepatitis C is ribavirin and
modified interferon (it is modified so it is more stable). The interferon works by
activating a kinase (protein kinase R) that phosphorylates a key initiation factor for
protein synthesis, thereby inhibiting the factor from participating in protein
synthesis. This leads to a reduction in protein synthesis, and reduced replication of
the virus infecting the cells. Interferon does not inhibit DNA repair, enhance the
elongation phase of protein synthesis, or affect ribosome formation.
12
A 50-year-old female has shortness of breath, cough, and fever for 3 days. She
lives with her husband and has no medical problems. Her pulse ox in the office is
89 and her pulse rate is 110. She is admitted for treatment of community-acquired
pneumonia, and her intravenous (IV) antibiotic treatment includes levofloxacin. A
mutation in which bacterial enzyme would be required for levofloxacin resistance
to be observed?
(A) DNA primase
(B) DNA polymerase III
(C) DNA gyrase
(D) DNA ligase
(E) DNA polymerase I
12
A 50-year-old female has shortness of breath, cough, and fever for 3 days. She
lives with her husband and has no medical problems. Her pulse ox in the office is
89 and her pulse rate is 110. She is admitted for treatment of community-acquired
pneumonia, and her intravenous (IV) antibiotic treatment includes levofloxacin. A
mutation in which bacterial enzyme would be required for levofloxacin resistance
to be observed?
(A) DNA primase
(B) DNA polymerase III
(C) DNA gyrase
(D) DNA ligase
(E) DNA polymerase I
Levofloxacin is a member of the quinolone family of antibiotics that inhibits
bacterial topoisomerases, primarily DNA gyrase (etoposide is the drug that inhibits
eukaryotic topoisomerases). Without gyrase activity, the DNA of the bacterial
chromosome cannot be unwound properly, and DNA replication would cease,
leading to the death of the bacteria. The quinolone family of antibiotics does not
directly affect DNA polymerases, DNA ligase, or DNA primase.
13
An 18-year-old college freshman shares a dorm room with three roommates. One
of his roommates has been diagnosed with meningococcal meningitis, caused by
the bacteria Neisseria meningitidis. The other three roommates are isolated, and
treated twice a day with an antibiotic as prophylaxis against this organism, as
none of them had received the meningococcal vaccine prior to enrollment. They
are told that this antibiotic can give a reddish discoloration of their urine or tears.
The reason this drug is effective in killing the bacteria is which one of the
following?
(A) DNA synthesis is inhibited.
(B) RNA synthesis is inhibited.
(C) The process of protein synthesis is inhibited.
(D) The bacterial membrane becomes leaky.
(E) ATP generation is reduced.
13
An 18-year-old college freshman shares a dorm room with three roommates. One
of his roommates has been diagnosed with meningococcal meningitis, caused by
the bacteria Neisseria meningitidis. The other three roommates are isolated, and
treated twice a day with an antibiotic as prophylaxis against this organism, as
none of them had received the meningococcal vaccine prior to enrollment. They
are told that this antibiotic can give a reddish discoloration of their urine or tears.
The reason this drug is effective in killing the bacteria is which one of the
following?
(A) DNA synthesis is inhibited.
(B) RNA synthesis is inhibited.
(C) The process of protein synthesis is inhibited.
(D) The bacterial membrane becomes leaky.
(E) ATP generation is reduced.
The drug given to prevent Neisseria infection (used prophylaxically), which
is common in crowded conditions such as freshman dormitory rooms or military
barracks, is rifampin. Rifampin inhibits RNA polymerase, and also exhibits a red
color. Loss of rifampin in the urine or tears would give a reddish tint to those fluids.
Rifampin does not interfere with DNA synthesis, the bacterial membrane, the
process of protein synthesis, or ATP generation by the bacteria.
14
A 38-year-old homeless man who has not received any medical care in the last 20
years presents with 2 days of shortness of breath, chills, fever, drooling, painful
swallowing, and a “croupy” cough. A physical examination reveals a bluish
discoloration of his skin and a tough, gray membrane adhered to his pharynx. The
underlying mechanism through which this disease affects normal cells is which
one of the following?
(A) DNA synthesis is inhibited in the target cells.
(B) RNA synthesis is inhibited in the target cells.
(C) The process of protein synthesis is inhibited in the target cells.
(D) The plasma membrane becomes leaky in the target cells.
(E) ATP generation is reduced in the target cells.
14
A 38-year-old homeless man who has not received any medical care in the last 20
years presents with 2 days of shortness of breath, chills, fever, drooling, painful
swallowing, and a “croupy” cough. A physical examination reveals a bluish
discoloration of his skin and a tough, gray membrane adhered to his pharynx. The
underlying mechanism through which this disease affects normal cells is which
one of the following?
(A) DNA synthesis is inhibited in the target cells.
(B) RNA synthesis is inhibited in the target cells.
(C) The process of protein synthesis is inhibited in the target cells.
(D) The plasma membrane becomes leaky in the target cells.
(E) ATP generation is reduced in the target cells.
The man has contracted diphtheria, and needs the diphtheria antitoxin and then
antibiotics to remove the offending organism, C. diphtheriae. As the patient has
not received medical care over the past 20 years, he has also missed his
diphtheria vaccine, which should be received every 10 years. Diphtheria toxin
blocks eukaryotic protein synthesis by phosphorylating an initiation factor, which
inhibits protein synthesis in the cells. The toxin does not directly affect DNA or
RNA synthesis, nor does it, as a primary target, reduce ATP production by the
mitochondria or allow the plasma membrane to become leaky.
15
A 4-year-old boy displays a failure to thrive, extreme sensitivity to the sun, hearing
loss, severe tooth decay, pigmentary retinopathy, and premature aging. An
analysis of fibroblasts from the boy demonstrated extensive DNA damage in cells
trying to grow, but minimal damage in quiescent cells, which have a greatly
reduced rate of transcription as compared to the growing cells. This child most
likely has a defect in which one of the following processes?
(A) Repair of thymine dimers
(B) Base excision repair
(C) Nucleotide excision repair
(D) Mismatch repair
(E) Transcription-coupled DNA repair
15
A 4-year-old boy displays a failure to thrive, extreme sensitivity to the sun, hearing
loss, severe tooth decay, pigmentary retinopathy, and premature aging. An
analysis of fibroblasts from the boy demonstrated extensive DNA damage in cells
trying to grow, but minimal damage in quiescent cells, which have a greatly
reduced rate of transcription as compared to the growing cells. This child most
likely has a defect in which one of the following processes?
(A) Repair of thymine dimers
(B) Base excision repair
(C) Nucleotide excision repair
(D) Mismatch repair
(E) Transcription-coupled DNA repair
The child is exhibiting the symptoms of Cockayne syndrome, which is due to a
defect in transcription-coupled DNA repair. During transcription of genes, if the
RNA polymerase notices DNA damage, transcription will stop while the
transcription-coupled DNA repair mechanism will correct the DNA damage. This
syndrome can be due to mutations in either the ERCC6 or ERCC8 gene, and the
protein products of both the genes are involved in repairing the DNA of actively
transcribed genes. The key to answering the question is the amount of DNA
damage in growing cells (which are transcriptionally active) versus the damage in
quiescent cells (which express fewer genes). The symptoms described are also
unique to individuals with this disorder. The repair of thymine dimers and the
processes of base excision repair, nucleotide excision repair, and mismatch repair
are all functional in individuals with this disorder.
16
A 33-year-old man had a screening colonoscopy, and was diagnosed with a
right-sided, mucinous colon cancer, with no other lesions or polyps seen. The
reason he had a colonoscopy at such an early age is that his father and paternal
uncle had colon cancers diagnosed by age 40. His paternal grandmother had
ovarian and uterine cancers. A likely defect in the patient is a reduction in the
ability to carry out which one of the following processes?
(A) Removal of thymine dimers from the DNA
(B) Inability to remove the base U from DNA
(C) Loss of DNA ligase activity
(D) Inability to correct mismatched bases in newly synthesized DNA
(E) Inability to form a solenoid structure from individual nucleosomes
16
A 33-year-old man had a screening colonoscopy, and was diagnosed with a
right-sided, mucinous colon cancer, with no other lesions or polyps seen. The
reason he had a colonoscopy at such an early age is that his father and paternal
uncle had colon cancers diagnosed by age 40. His paternal grandmother had
ovarian and uterine cancers. A likely defect in the patient is a reduction in the
ability to carry out which one of the following processes?
(A) Removal of thymine dimers from the DNA
(B) Inability to remove the base U from DNA
(C) Loss of DNA ligase activity
(D) Inability to correct mismatched bases in newly synthesized DNA
(E) Inability to form a solenoid structure from individual nucleosomes
The patient has HNPCC, which is due to specific mutations in proteins involved
in mismatch repair (mutations in at least four different proteins have been
identified that lead to HNPCC). Mismatch repair is not involved in thymine dimer
removal, nor base excision repair (the removal of uracil from DNA). HNPCC does
not involve a defective DNA ligase, nor does the disease result in defective DNA
packaging (solenoid formation) in the nucleus.
17
A 10-year-old boy, small for his age in both height and weight with a calculated,
projected adult height of less than 5 feet, is photophobic, and develops a
“butterfly” rash over his nose and cheeks if exposed to the sun. He has a
high-pitched voice, large nose, prominent ears, and has had multiple pneumonias
in his childhood. An examination of fibroblasts from this patient demonstrated
an increased sister chromatid exchange rate during mitosis as compared to cells
from a normal child. The defective enzymatic activity in this child can be traced to
which one of the following activities?
(A) A DNA polymerase
(B) An RNA polymerase
(C) A helicase
(D) An exonuclease
(E) An endonuclease
17
A 10-year-old boy, small for his age in both height and weight with a calculated,
projected adult height of less than 5 feet, is photophobic, and develops a
“butterfly” rash over his nose and cheeks if exposed to the sun. He has a
high-pitched voice, large nose, prominent ears, and has had multiple pneumonias
in his childhood. An examination of fibroblasts from this patient demonstrated
an increased sister chromatid exchange rate during mitosis as compared to cells
from a normal child. The defective enzymatic activity in this child can be traced to
which one of the following activities?
(A) A DNA polymerase
(B) An RNA polymerase
(C) A helicase
(D) An exonuclease
(E) An endonuclease
The child has Bloom’s syndrome, a DNA synthesis defect due to a defective
DNA helicase. The defective helicase leads to an increased mutation rate in the
cells, through an unknown mechanism. Cells derived from patients with Bloom’s
syndrome display a significant increase in recombination events between
homologous chromosomes as compared to normal cells (increased sister
chromatid exchange rate). Mutations in the helicase increase genomic instability;
the normal Bloom’s protein suppresses sister chromatid exchange, and helps to
maintain genomic stability. Bloom’s syndrome is not due to a mutation in either
DNA or RNA polymerase, an exonuclease, or an endonuclease.
18
A scientist is studying a novel hepatocyte cell line that cannot produce a nucleolus
when the cells are grown at 42°C. When examining cells that have been at 42°C
for 96 hours, the scientist finds that the incorporation of 14C-leucine into proteins
is greatly reduced as compared to cells grown at 35°C. This is most likely due to
which one of the following at the nonpermissive temperature?
(A) Lack of charged tRNA molecules
(B) Inability to form peptide bonds during protein synthesis
(C) Lack of initiation factors
(D) Inability to form mature mRNA
(E) Lack of GTP needed for protein synthesis
18
A scientist is studying a novel hepatocyte cell line that cannot produce a nucleolus
when the cells are grown at 42°C. When examining cells that have been at 42°C
for 96 hours, the scientist finds that the incorporation of 14C-leucine into proteins
is greatly reduced as compared to cells grown at 35°C. This is most likely due to
which one of the following at the nonpermissive temperature?
(A) Lack of charged tRNA molecules
(B) Inability to form peptide bonds during protein synthesis
(C) Lack of initiation factors
(D) Inability to form mature mRNA
(E) Lack of GTP needed for protein synthesis
18
A scientist is studying a novel hepatocyte cell line that cannot produce a nucleolus
when the cells are grown at 42°C. When examining cells that have been at 42°C
for 96 hours, the scientist finds that the incorporation of 14C-leucine into proteins
is greatly reduced as compared to cells grown at 35°C. This is most likely due to
which one of the following at the nonpermissive temperature?
(A) Lack of charged tRNA molecules
(B) Inability to form peptide bonds during protein synthesis
(C) Lack of initiation factors
(D) Inability to form mature mRNA
(E) Lack of GTP needed for protein synthesis

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