Where is rRNA made? Nucleolus.

Vitamin A.
What vitamin is beneficial Vit A def can cause night
blindness, corneal perforation,
in measles?
and abnl sq cell prolif and
keratinization of conjunctiva.
-Endonuclease, which normally can recognize
distortions in DNA structure and excise
What kind of enzyme is stretches of single stranded DNA that have
deficient in Xeoderma the defects.
-Gaps fillled by DNA polymerase that uses
Pigmentosa? the opposite DNA strand as a template.
-Then new strand joined on both ends to
existing DNA by ligase.

-On the 3' end.

Where on tRNA does the -The TwC arm has a
amino acid attach? sequence of 3 nucleotides
present in all tRNA molecules.

- Glutamic acid -> Valine

What is the mutation in substitution.
- Occurs due to a point
Sickle cell anemia?
mutation on the B-
hemoglobin gene.

What is the mutation (in

terms of amino acids) for Phenylalanine deletion
cystic fibrosis?

What organ system would
a mutation in PRPP affect
the most?
Joints, because it would cause
gout.
- Get elevated uric acid levels
in serum, because of
defective purine metabolism.

What mechanisms are

used to uptake indirect BR Passive, and active
into liver, and put out respectively.
direct BR out of the liver?

UGA, UAA, UAG

What are the three stop
(U Go Away, U Are Away, U
codons?
Are Gone)

1. N-oligosaccharides on Asparagine
What are the 3 2. O-oligosaccharides to serine and
threonine
modifications that the 3. Mannose 6 Phosphate to specific
Golgi apparatus does? lysosomal prot, targeting them to
lysosomes.

Vesicular trafficking proteins.

What are the COP proteins? COP 1: retrograde, Golgi to
Why are they important? ER
COP 2: anterograde, RER to
cis-Golgi

What are proteoglycans? Proteoglycans: molecules of ECM.

It assembles them by adding GAGs to

What does the Golgi do for core proteins that are produced in the ER.

proteoglycans?
 What does the Golgi Proteoglycans and selected
sulfate? tyrosine on proteins.

Inherited lysosomal storage

What is the defect in I-cell
disease?
disorder.
No Mannose6P added to lysosome
protein. So they are secreted outside
of the cell, instead of going to
lysosome.

Coarse facial features,

Symptoms of I-cell clouded cornea.
disease? High levels of plasma
lysosomal enzymes.

Helical array of polymerized

What is the structure of dimers of a and b tubulin.
microtubules? **Each dimer has 2 GTP
bound***

What are the 2 molecular Dynein: retrograde (+ to -)

motor proteins that work Kinesin: anterograde ( - to
with microtubules? +)

What are 5 drugs that
work on microtubules?
1. Mebendazole/thiabendazole
(antihelmenthic)
2. Griseofulvin (antifungal)
3. Vincristine/vinblastine (anti-cancer)
4. Palicataxel (anti-BC)
5. Colchicine (gout)
 There is a defect in microtubule
What is the defect in polymerization. Decreased
phagocytosis.
Chediak Higashi Recurrent pyogenic infections,
syndrome? partial albinism, peripheral
neuropathy.

What is the arrangement
of microtubules in cilia?
What is the defect
Kartagner's syndrome?
What is it associated with?
9+2 arrangement.
Axonemal dynein-ATPase links
peripheral 9 doublets and
causes bending of cilium by
differential sliding of doublets.
Immotile cilia due to a dynein arm
defect.
Male and female infertility,
bronchiectasis,
recurrent sinusitis.
Associated with situs inversus.

Microvilli,
muscle contraction,
Where are actin and cytokinesis (in late mit/meo when
myosin found? cell splits into 2), and
adherens junctions (protein
complexes at cell-cell junctions).

Vimentin, desmin,
Where are intermediate
cytokeratin, GFAP,
filaments found?
neurofilaments.

What is the percentage 50% cholesterol, 50%

phospholipids, sphingolipids,
concentration of plasma
glycolipids, proteins.
membrane composition?
 Vimentin stains? Connective tissue

Desmin stains? Muscle

1. Ouabain by binding to K site

2. Cardiac glycosides (digozin and
What are 2 drugs that digitoxin) by directly inhibiting teh Na-
block the sodium pump? K ATPase, which leads to indirect
inhibition of Na/Ca exchange. increased
CA = increased cardiac contractility.

Bone, skin, tendon, dentin,

Where is Type I collagen fascia, cornea, late wound
found? repair.
TYPE 1: bONE.

Reticulin - skin, blood

Where is type III collagen
vessels, uterus, fetal
found?
tissue, granulation tissue.

What are the symptoms in Hyperextensible skin

Easy bruising/bleeding
Ehler's Danlos?
Hypermobile joints
Most freq affected type
collagen? Type 3
 Rich in proline and glycine,
nonglycosylated forms.
Describe composition of Tropoelastin with fibrillin scaffolding
elastin. What degrades it? Broken down by elastase, which is
normally inhibited by alpha 1
antitrypsin.

Cytokeratin stains? Epithelial cells

GFAP stains? Neuroglia

Neurofilaments stain? Neurons

Where is the Na/K ATPase Located on the

located? cytoplasmic side.
How is it activated? Phosphorylated with ATP.

Where is collagen found?

In the ECM
 Cartilage (includng
Where is Type II collagen hyaline), vitreous body,
found? nucleous pulposus.
Type II: carTWOlage.

Where is type 4 collagen Basement membrane or

found? basal lamina.

What are the 4 steps of Synthesis (RER)

Hydroxylation (ER) - inhib in scurvy
collagen synthesis? Glycosylation (ER) - inhib in OI
Exocytosis
What is inhibited in scurvy, _______
Proteolytic processing: ehlers danlo
ehlers danlos, and OI? Cross linking

In RER, collagen a chains are

What happens in the translated (PREPROCOLLAGEN),
synthesis portion of usually Gly-X-Y polypeptide.
collagen? X, Y are proline, hydroxyproline,
or hydroxylysine.

What happens in the Specific proline and lysine

hydroxylation portion of residues are hydroxylated.
collagen synthesis? requires VITAMIN C.

Pro a chain residues are

What happens in the
glycosylated, forming
glycosylation portion of
procollagen (triple helix of
collagen synthesis?
3 alpha chains).
 Triple helix of 3 collagen a
What is procollagen?
chains.

What happens in the Terminal regions of

proteolytic processing procollagen cleaved, made
portion of collagen into insoluble
synthesis? tropocollagen.

Cross linking: reinforcement

What happens after of tropocollagen molecules by
proteolytic processing of covalent lysine-hydroxylysine
collagen? cross linkage by lysil oxidase
to make collagen fibrils.

What 3 things are ehler's Joint dislocation, berry

danlos associated with? aneurysm, organ rupture.

Multiple fractures with minimal

What are the symptoms of trauma (can occur during birth)
OI? Blue sclerae
What type of collagen is Hearing loss (abnl middle ear bone)
Dental imperfections
most affected? Type I collagen

What is significant about Fatal in utero or in

Type II OI? neonatal period
 What type of collagen is Type IV collagen affected.
affected in Alport's X-linked Recessive.
syndrome? Hereditary nephritis and
What are the symptoms? deafness.

Large arteries, elastic

Other than the lungs, ligaments, vocal cords,
where is elastin found? ligamenta flava (connect
vertebrae).

What is the defect in

Defect in fibrillin
Marfan's?

Can be caused by a1-

What is the defect in antitrypsin deficiency,
emphyzema? resulting in excess
elastase activity.

Bacterial enzymes that catalyze

hydrolysis of phosphodiester bonds
What do restriction in DNA molecules at SPECIFIC
enzymes do? NUCLEOTIDE SEQUENCES.
Always get same pattern of DNA
fragments when you cut with them.

What kinds of ends to

Staggered, and blunt
ECOR1 and HindIII
respectively.
produce? What about Alu1?
 Negatively charged DNA
What is the direction of moves from negative to
movement in positive end (bottom). Smaller
Electrophoresis? Why? fragments make it further to
the bottom.
Use dideoxyribonucleoside
What is the concept behind triphosphates which lack 3 'OH
group. Thus if this is added in
DNA sequencing?
synthesis, it stops addition of
the next nucleotide.

Go to bottom, look at
How to read DNA where the last bar is.. then
sequencing? go up, you are reading
from 5' to 3'.
-DNA sample electrophoresed on gel,
transferred to filter.
-Filter soaked in denaturing agent (low pH/
What is the procedure of high temp)
the southern blot? - Exposed to labled DNA probe that recog
and anneals complementary strand.
-Double stranded, labeled peice of DNA
visualized when filter is exposed to film.