FOM Module 0-2 Review Flashcards
(185 cards)
1
Q
2nd messenger IP3 is terminated by
A
Phosphotase
2
Q
What does Gq GPCR do
A
Activates phospholipase C-beta leading to increase in IP3 and DAG which activates PKC
3
Q
Enzymes involved in histone acetylation
A
Histone Acetyltransferases (HATs): Add acetyl groups
Histone Deacetylases (HDACs): Remove acetyl groups
4
Q
Mutation in ABCC2 causes
A
Dubin-Johnson syndrome
5
Q
2nd messenger PIP2 precursor is
A
PI-4-P
6
Q
Antiviral drug that treats HIV/AIDS
A
Zidovudine
(3-azido-2’3’-dedeooxythymidine)
7
Q
What drugs inhibit DNA synthesis (S phase)
A
5-Fluorouracil
Hydroxyurea
Methotrexate
8
Q
What protein is affected by Pertussis toxin
A
Gi
9
Q
What does cyclophosphamide do
A
DNA alkylation leading to cross linking (stops polymerization)
10
Q
2nd messenger DAG is released by
A
Phospholipase C
11
Q
Disease relating to trinucleotide translation repeats (specifically CAG)
A
Huntington disease
12
Q
What does Botulinum C3 protein do to the cell
A
Inactivates Rho proteins, leading to the disassembly of actin fibers and disruption of actin cytoskeleton organization. This effect impairs various cellular processes, including cell shape, motility, and division
13
Q
What do GEF’s (Guanine nucleotide Exchange Factors) do
A
Activate GTPase by removing GDP (inactive) and adding GTP
14
Q
What disease comes from mutation in ATP7A
A
Menkes disease (kinky hair)
15
Q
When is glucose diffused through active transport (sodium-dependent glucose transporters (SGLT))
A
During periods of fasting when glucose is low in the intestines
16
Q
Ligand for serine/threonine pathway
A
TGF-beta
17
Q
Enzymes involved in histone methylation
A
Histone Methyltransferases (HMTs): Add methyl groups
Histone Demethylases (HDMs): Remove methyl groups
18
Q
Mutation in what transporter causes Menkes disease (kinky hair disease)
A
ATP7A
19
Q
Key characteristics of RNA polymerase II
A
Recognizes TATA and CAAT
Requires transcription factors
Essential for transcription and RNA processing
20
Q
Is DNA repair active/not active, and which mechanism, in S phase
A
Active, Mismatch Repair (MMR)
21
Q
What does ABCA1 do
A
Removes cholesterol from cells
22
Q
What do mitomycin C antibiotics do
A
Cross links DNA
23
Q
What does an adaptor protein do
A
Bind specific amino acid sequences for insulin signaling (SH2, SH3)
24
Q
What carbohydrate compounds are elevated in Gaucher disease
A
Glucocerebrosides
25
What protein is affected by Botulinum C3 protein
G12
26
Initial intracellular substrate in RTK (insulin) pathway
IRS-1
27
How does DNA methylation affect gene expression
Associated with gene repression and DECREASED
transcription
28
Is DNA repair active/not active, and which mechanism, in G1 phase
Active, Nucleotide Excision Repair (NER)
29
Ligands for integrin pathway
Fibronectin
Vitronectin
Collagen
Laminin
30
What glucose active transporter (SGLT) also actively transports bile acids and fat-soluble vitamins, and is the mutation site for Crohn's disease?
SLC10A2
31
Where is the Prader-Willi gene located
Chromosome 15q11-13
32
Where is the Angelman syndrome gene located
Chromosome 15q11 (ubiquitin-protein ligase E3A (UBE3A))
33
What is xeroderma pigmentosa
Extreme sensitivity to UV light due to thymidine dimers not being removed by NER leading to severe sun-induced skin damage, basal cell carcinoma, squamous cell carcinoma
34
What does ELISA give you
Detection and quantification of specific proteins
35
What to use Western blot to find
Molecular weight
Presence or absence of a protein
Posttranslational modification of a protein (ug to ng)
36
What is Hartnup disease
Inability to reabsorb neutral amino acids
37
Function of RNA polymerase III
Synthesize tRNA
Synthesize 5S rRNA
Synthesize sn/snoRNA
38
2nd messenger DAG target is
Protein kinase C (PKC)
39
2nd messenger calcium target is
Calmodulin (CaM)
Calpain
Others
40
What causes Angelman syndrome
Fathers gene is silenced by DMAT and mothers gene has been deleted
41
What causes Beckwith-Wiedemann syndrome
Fathers gene deleted and mothers gene silenced by DMAT
42
What does diphtheria toxin do to the cell
Inactivates EF2 leading to decreased protein synthesis and causes cellular damage, contributing to the pathology
43
What drug inhibits microtubule formation in prophase
Vincristine
44
What is ataxia telangiectasia
Rare mutation of ATM gene resulting in nervous and immune deficiencies, ataxia (difficulty with coordination and balance), and clustered spider veins on skin and eyes
45
What is key in determining Dubin-Johnson syndrome
Hyperbilirubinemia
46
Where is RNA polymerase I active
Nucleolus
47
How is histone acetylation clinically significant
Acetylation can lead to oncogene activation or tumor suppressor gene repression.
Dysregulation in histone acetylation linked to Huntington disease.
HDAC inhibitors (vorinostat) used in cancer treatment
48
What mutation in the beta-globin gene leads to sickle cell anemia
Glutamate to valine on position 6 (E6V)
49
How do anthracyclines fight cancer
Disrupt DNA structure and function (intercalation)*
Inhibit topoisomerase II*
Generate ROS
Alkylize DNA
Introduce apoptosis
50
When do you use Restriction fragment gel electrophoresis
Check DNA for point mutations causing or deleting enzyme cutting sites
51
What mutation in the beta-globin gene leads to hemoglobin E (Hb E)
Glutamate to lysine at position 26 (E26K)
52
What is histone acetylation
Addition of acetyl groups (COCH3) to lysine residues in histone tails
53
When do you use microarrays
Gene expression profiles and genetic variations
Identify genetic biomarkers associated with diseases
54
Platinum based chemotherapy drugs for testicular, ovarian, bladder, and lung cancers
-platins
(Cisplatin
Oxaliplatin
Carboplatin)
55
What does SLC6A19 do
Encodes sodium-dependent neutral amino acid transporter B-OAT1
56
When is cytosine arabinoside an inhibitor
During S-phase DNA synthesis
57
2nd messenger calcium precursor is
Stored calcium
58
When do you use Real-Time PCR
Real time amplification of DNA using florescent probes
59
When do you use Western blot
Following SDS-PAGE for specific antibody labeling (qualitative)
60
Is DNA polymerization active/not active in G2 phase
Not active
61
Mutation in ABCA1 causes
Tangier disease
62
Molecular switch in RTK (insulin) pathway
Ras GTP -> GDP (inactive)
Ras GDP -> GTP (active)
63
What do rifamycin (rifampin/rifabutin) antibiotics do
Inhibit RNA polymerase during transcription
64
Conservative missense
Amino acid is changed but to one with similar properties
65
Okazaki fragments in eukaryotes form when
DNA polymerase delta replicates lagging strand, extending RNA-DNA primers synthesized by primase and DNA polymerase alpha
66
Why use native PAGE instead of SDS
To not denature proteins in question (i.e. Separate hemoglobin types)
67
What samples are used in Western blot
Identification of expression of a specific protein in tissue homogenates, cell lysates, serum. For example, to detect anti-HIV antibody in a human serum sample
68
Function of RNA polymerase I
Synthesize 28S, 18S, and 5.8S
69
2nd messenger PIP2 target is
Ion Channel and transporters
70
Sequence of signal recognition
Initiation
Emergence of signal sequence
Binding of signal recognition particle (SRP)
Targeting to ER
Docking and translocation
Protein synthesis and translocation
Completion
71
What does Southern blot do
Detect DNA
72
What is busulfan used for
Chronic myelogenous leukemia
73
How is histone methylation clinically significant
Abnormal methylation patterns seen in tumors (H3K27me3 in polycomb repressive complex).
Also, in neurodevelopmental disorders (KMT2D mutations in Kabuki syndrome).
Epigenetic Therapy: Targeting specific methylation (GSK-J4, activate HMTs)
74
What does Zidovudine do
Inhibits nucleoside reverse transcriptase (prevents replication)
75
When do you use RT-PCR (reverse transcriptase)
Converting RNA to cDNA to detect RNA virus and gene expression
76
What receptors are examples of “other” receptors
Integrin
77
Is DNA repair active/not active, and which mechanism, in G2 phase
Active, Homologous Recombination (HR) (double strand break repair)
78
Disease relating to protein folding and post-translational processing (CFTR)
Cystic fibrosis
79
What does busulfan do
Covalently bond DNA (crosslink) G-A and G-G
80
What does ABCC2 do
Encodes MRP2 protein which removes conjugated bilirubin from hepatocytes. Liver function remains normal typically
81
How is DNA methylation clinically significant
Hypermethylation of tumor suppressor genes (e.g., MLH1 in colorectal cancer).
Aberrant methylation linked to Rett syndrome (mutations in the MECP2 gene, neurological).
DNMT inhibitors (azacytidine) used in cancer treatment
82
What does PCR do
Amplifies DNA fragments
Genetic test
83
2nd messenger cAMP is terminated by
Phosphodiesterase
84
Where is the Beckwith-Wiedemann gene
Chromosome 11p15.5 (CDKN1C, KCNQ1OT1) (H19)
85
2nd messenger cGMP precursor is
GTP
86
Mutation in what transporter causes Dubin-Johnson syndrome
ABCC2
87
Enzymes involved in DNA methylation
NA Methyltransferases (DNMTs): Add methyl groups
Ten-Eleven Translocation (TET) Enzymes: Removes methyl groups
88
What is histone methylation
Addition of methyl groups (CH3) to lysine or arginine residues in histone proteins
89
What test result determines Tangier disease
No or very little HDL cholesterol
90
What does 5-lipoxygenase make
Leukotriene A4 (LTA4) - leukocytes, lungs, heart
LTB4 - neutrophils
LTC4, LTD4, LTE4 - SM contraction, increase vascular permeability
91
How do quinolones and fluoroquinolones work
Inhibit bacterial type II topoisomerases (topoisomerase IV and DNA gyrase)
92
When is DNA polymerase active
While synthesizing new DNA 5'-3' (elongation)
93
Chemotherapeutic drug family anthracyclines for leukemias, lymphomas, and breast cancers
-rubicins
(Doxorubicin
Daunorubicin
Epirubicin
Idarubicin)
94
What diseases are cyclophosphamides used for
Lymphomas
Leukemias
Breast cancer
Ovarian cancer
Systemic lupus erythematosus
95
Symptoms of Beckwith-Wiedmann
Overgrowth and large body size at birth
Macroglossia (large tongue)
Abdominal wall defects (omphalocele, umbilical hernia)
Neonatal hypoglycemia
Increased risk of developing childhood cancers
Ear creases or pits
Hemi-hyperplasia (one side of the body is larger than the other)
96
What does Gs GPCR do
Stimulates adenylate cyclase boosting cAMP and activating PKA
97
What causes Prader-Willi syndrome
The fathers gene is deleted and the mothers gene is silenced by DMAT
98
2nd messenger cAMP precursor is
ATP
99
What is Menkes disease (kinky hair)
Copper deficiency
100
Symptoms of Hartnup disease
Light sensitive rash
Ataxia
Neuropsychiatric manifestations
101
What does Pertussis do to the cell
Prevents the Gi protein from inhibiting adenylate cyclase, resulting in prolonged activation of adenylate cyclase and increased cAMP leading to whooping cough
102
Quinolone and fluoroquinolone based antibiotics
-floxacin
Moxifloxacin
Gatifloxacin
Levofloxacin
Gemifloxacin
103
When do you use qPCR
To quantify DNA levels
104
When do you use Southern blot
Diagnose patients suspected of having conditions caused by large expansions of tandemly repeated DNA (myotonic dystrophy type 1)
105
What samples are used in IHC
Tumor biopsies, tissue necrosis, identification of specific protein in tumor samples
106
Symptoms of Angelman syndrome
Severe intellectual disability and developmental delay
Lack of speech or minimal speech development
Ataxia
Frequent laughing and smiling
Widely spaced teeth
Abnormally flat back of the head (microcephaly)
107
What is the fastest receptor signal?
Ligand gated
108
What is the mechanism for Non-Homologous End Joining (NHLJ) (double strand break repair)
Directly ligates double strand breaks in DNA
109
2nd messenger cGMP is terminated by
Phophodiesterase
110
Where is RNA polymerase II active
Nucleus
111
Is transcription active/not active in G1 phase
Active
112
What does Northern blot do
Detects RNA
113
Ligand for RTK pathway
Growth factors
114
What mutation in the CFTR gene leads to cystic fibrosis
Loss of phenylalanine at position 508 (ΔF508)
115
2nd messenger DAG is terminated by
DAG kinase
116
What cell phase is DNA replication
S phase
117
What mutation in the beta-globin gene leads to hemoglobin C (Hb C)
Glutamate to lysine at position 6 (E6K)
118
What end unit molecules counter each other in the arachidonic acid pathway
Thromboxane A2 (TXA2)
(Platelet aggregation, vaso/bronchoconstriction, mobilize intracellular calcium, SM contraction)
Prostacyclin (PGI2) (relaxation, inhibit platelet aggregation)
119
When do you use Sanger Sequencing
Identify position as well as nature of the point mutation
120
Is transcription active/not active in G2 phase
Active
121
Is DNA polymerization active/not active in G1 phase
Not active
122
What does Gi GPCR do
Inhibits adenylate cyclase therefore inhibiting cAMP production
123
What do GAP's (GTPase Activating Protein) do
Stimulate hydrolysis converting GTP to GDP (inactivation)
124
What does G12 GPCR do
Activates rho proteins (including Ras) and regulates actin
125
What does cholera do to the cell
Prolonged activation of adenylate cyclase, increased cAMP levels, and ultimately, the severe fluid and electrolyte loss
126
2nd messenger cAMP target is
Protein kinase A (PKA)
Rap GDP/GTP exchange factor (Epac)
Cyclic nucleotide phosphodiesterase
127
Which amino acids are targeted for phosphorylation by kinases
Tyrosine
Serine
Threonine
128
Topoisomerase inhibitors
Doxorubicin
Etoposide
129
What drug induces DNA strand breaks in G2 phase
Bleomycin
130
What are the enzymes that process arachidonic acid
5-Lipoxygenase (LOX)
Cyclooxygenase 1 (COX-1)
Cyclooxygenase 2 (COX-2)
131
Mutation in what transporter causes Tangier disease
ABCA1
132
How are the DNA strands synthesized
Leading is continuous and lagging has Okazaki fragments
133
Diseases associated with Non-Homologous End Joining (NHLJ) (double strand break repair) mutations
Severe Combined Immunodeficiency (SCID)
Ataxia telangiectasia
134
Mutation in what transporter causes Hartnup disease
SLC6A19
135
How would mutations in the Ras/Raf pathway affect Ras-GTP/GDP
Mutation in GAP's prevent Ras from inactivation (Ras-GDP), causing unmitigated proliferation from MEK/ERK
136
What does Sanger Sequencing do
Detects mutations
137
What do COX-1 and COX-2 make
Thromboxane A2 (TXA2)
Prostacyclin (PGI2)
Prostaglandins (PGE2, etc.)
138
2nd messenger cGMP target is
Protein kinase G (PKG)
139
What is ELISA used to find
Detection of HIV antibodies, specific cytokines, biomarkers, others where you want to compare with a normal reference values and need a definitive number (quantitative)
140
Okazaki fragments in prokaryotes form when
DNA polymerase III replicates lagging strand, extending RNA primers synthesized by primase, and joined together by DNA polymerase I with 5'-3' endonuclease and ligase
141
2nd messenger calcium is released by
Storage organelles
Cation channels
142
What part of the cell cycle is Homologous recombination (HR) (Double strand break repair)
Late S
G2
143
What disease is caused by mutation in SLC6A19
Hartnup disease
144
What receptors are examples of enzyme-linked receptors
Insulin
Growth factor
Cytokine
145
Diseases associated with Nucleotide Excision Repair (NER) mutations
Xeroderma pigmentosa
Cockayne syndrome
146
When does Nucleotide Excision Repair take place
G1 Phase
147
2nd messenger cGMP is released by
Guanylyl cyclase
148
Is DNA polymerization active/not active in S phase
Active
149
2nd messenger PIP2 is released by
PIP5 kinase
150
2nd messenger IP3 target is
IP3 gated calcium channel
151
What does Restriction fragment gel electrophoresis do
Detects genetic variations, mutations
Genetic mapping
Disease diagnosis
DNA fingerprinting
152
When do you use Northern blot
Study mRNA levels
Reflective gene expression
Detect splice site errors
153
How does histone acetylation affect gene expression
Associated with gene activation and INCREASED transcription
154
What G protein is affected by Cholera toxin
Gs
155
What do microarrays do
Genomic profiling
156
2nd messenger PIP2 is terminated by
PLC/Phosphotase
157
Which protein facilitates correct folding of other proteins
Chaperones
158
Diseases associated with HR
BRCA1/2-related breast cancer
Fanconi anemia (short stature, Cafe-au-lait spots, thumb and forearm malformations)
159
2nd messenger DAG precursor is
PIP2
160
What nuclear enzyme makes rRNA
RNA polymerase I
161
How do -platins fight cancer
Forming adducts with DNA, distorting helices, which disrupt polymerases, leading to apoptosis
162
What do actinomycin D antibiotics do
Prevent RNA polymerase movement along DNA
163
Diseases associated with Base Excision Repair (BER) mutations
Colorectal cancer (MBD4)
Gastric cancer (NEIL1)
164
What does a scaffold protein do
Coordinate signal transduction pathway by attracting and docking vital pathway proteins by binding more than 3 proteins
165
What drug inhibits microtubule formation in metaphase
Taxel's (e.g. Paclitaxel)
166
Diseases associated with mismatch repair (MMR) mutations
Lynch syndrome (Hereditary Nonpolyposis Colorectal Cancer (HNPCC))
167
What protein is affected by Diphtheria toxin
Elongation Factor 2 (EF-2)
168
Antibiotics targeting DNA gyrase and topoisomerase IV
Quinolones
Fluoroquinolones
169
Symptoms of Prader-Willi
Behavioral problems (temper
tantrums, stubbornness,
compulsiveness)
Uncontrolled eating/obesity that can be life-threatening
Infantile symptoms: hypotonia
Poor suck/feeding difficulties
Short stature
Small hands and feet
Hypogonadism
170
Chemotherapeutic drug that disrupts DNA replication machinery
Cytarabine
171
What receptors are examples of nuclear receptors
Hormone (steroid/thyroid)
172
What does shigella toxin do to the cell
Inhibits ribosomes (60S) to prevent protein synthesis
173
What step of synthesis does shigella target
Translation
174
What toxins interfere with ADP-ribosylation
Cholera
Diphtheria
Pertussis
Botulinum C3
175
RTK-Insulin pathway for gene expression
Insulin - receptor - autophosphorylation - IRS-1 phosphorylated - Grb2 - Sos - Ras GTP - Raf-1 - MEK phosphorylated - ERK phosphorylated - ERK enters nucleus - ELK phosphorylated - gene expression
176
RTK-Insulin pathway for GLUT 4
Insulin - receptor - autophosphorylation - IRS-1 phosphorylated - Pi3K phosphorylated - PIP2 phosphorylated - AKT phosphorylated - Vesicle forms
177
Integrin pathway for differentiation/adhesion/growth
Fibro/vitronectin/collagen/laminin - receptor - Talin/FAK/Paxillin/SRC - Gbr2/SOS - Ras - MAPK - differentiation/adhesion/growth
178
Integrin pathway for morphology/growth
Fibro/vitronectin/collagen/laminin - receptor - Talin/FAK/Paxillin/SRC - morphology/growth
179
Integrin pathway for gene regulation
Fibro/vitronectin/collagen/laminin - receptor - Talin/FAK/Paxillin/SRC - p130cam/C3G - INK - gene regulation
180
Integrin pathway for invasion/migration
Fibro/vitronectin/collagen/laminin - receptor - Talin/FAK/Paxillin/SRC - Pi3K - PIP2 phosphorylated - PDK - AKT - invasion/migration
181
CAG repeats cause
Huntington's
182
CTG repeats cause
Myotonic dystrophy
183
GAA repeats cause
Friedreich's ataxia
184
When is transferrin upregulated
Intracellular iron low
185
When is ferritin upregulated
Intracellular iron high
