Lysine, Arginine

Glycine, Aspartate, Glutamine

Methionine
Tryptophan
Start Codons
Stop Codons
Origin of Replication
Replication Fork
Helicase
SSBP's
Topoisomerase
Primase
DNA Polymerase III
DNA Polymerase I
DNA Ligase
Telomerase
RNA Polymerase I
RNA Polymerase II
RNA Polymerase III
hnRNA-->mRNA
snRNP's
Alternative Splicing
tRNA
Methoinine
Wobble
Protein Synthesis Initiation
A site
P Site
E Site
Aminoglycosides
Tetracyclines
Aminoacyl-tRNA synthetase
Chloramphenicol
Macrolides
Histones
Needed for Purine synthesis
ONLY coded by AUG (start), aminoacyl tRNA binds directly to Methionine and not via A site
ONLY coded by UGG
AUG (methionine), GUG (valine)
UAA, UGA, UAG-- nonsense codons, thus no anticodon exists for it. Yeielding release factor to terminate/let go
Multiple regions in DNA
prevent re-annealing of strands from helicase
nicks created to relieve super coils, fluroquinolones inhibit DNA gyrase (topoisomerase II)
"landing base" for DNA Polymerase III to "land" to start replication
Prokaryotic only: 5'--> 3' activity, with 3'-->5' proofreading
Prokaryotic Only: degrades RNA primers, replaces with DNA (DOES NOT LIGATE)
Ligates Okazaki fragments and NOW replaced RNA primers with DNA sequences to make a continuous strand
Adds excess material to each 3' end to prevent genetic material loss with each replication
makes rRNA (rampant)
makes mRNA (massive), opens DNA at promoter site. Inhibited by the amanitin toxin in mushrooms (thus inhibited mRNA production). Which yields hepatotixicity.
makes tRNA (tiny)
occurs in the nucleus via "processing". Processing involves: 3' Poly A tail, 5' cap (200 AA's) and splicing of introns.
snRNP's are respponsible to intron splicing via: combining with hnRNA to make lariats of introns to remove. snRNP's AB's are in lupus (thus anti snRNP AB's are in the nucleus)
When snRNP's yield exons and those exons are combined in unique combos to yield equally unique proteins once the mRNA is translated. (Seen in the various SUBTYPES of beta thalasemmia mutations)
the AA's bind to the 3' end of the tRNA which has CCA stickied to it to sticky-covalent bind to an AA. (CCA= Can carry Amino's)
tRNA's 3' end-->CCA--> Methionine
This refers to a tRNA. A tRNA really only needs to have the first nucleotide positions to make a match
to code for an AA. Thus, EVEN if the third nucleotide position varies from what it should ideally be, it
IF's (energy from GTP hydrolysis) assemble the 40s subunit with the initiator tRNA (Met) and goes away when the 60's comes in along with the mRNA.
Aminoacyl-tRNA binds here-- except for Met which has already been there. It's the site that will continue to grow and grow
Proliferating site which allows the peptide to grow via trasferring AA to A site via catalyzing peptide bond formation.
Holds empty tRNA (no more AA attached to it now) till it can get naturally bumped out by the 40/60 subunit moving along the 5'-->3'
binds to 30s, thus initation complex for mRNA never forms and yields a total misreading of the mRNA (because where do you start if no Met to tell you where the start is?!)
binds to 30s, and blocks aminoacyl tRNA from ever getting into the A site, thus how the hell do you get a chain to grow if the space is blocked off?!
this enzyme is responsible for "matchmaking the tRNA to an AA. As a matchmaker it's job is to make
sure that the match is accurate, and properly bound. If it's not accurate it will hydrolyze the bond
binds to 50's, thus P site's peptidyl transferase is blocked (chloramPhenicol is a P site Pig)
binds to 50's, preventing the release of uncharged tRNA after its donated its AA. Thus, like an overstayed guest, no one else can come in. Everything has to be stagnant and further synthesis cant occur.
UAA, UGA, UAG-- nonsense codons, thus no anticodon exists for it. Yeielding release factor to terminate/let go
Ligates Okazaki fragments and NOW replaced RNA primers with DNA sequences to make a continuous strand
makes mRNA (massive), opens DNA at promoter site. Inhibited by the amanitin toxin in mushrooms (thus inhibited mRNA production). Which yields hepatotixicity.
occurs in the nucleus via "processing". Processing involves: 3' Poly A tail, 5' cap (200 AA's) and splicing of introns.
snRNP's are respponsible to intron splicing via: combining with hnRNA to make lariats of introns to remove. snRNP's AB's are in lupus (thus anti snRNP AB's are in the nucleus)
When snRNP's yield exons and those exons are combined in unique combos to yield equally unique proteins once the mRNA is translated. (Seen in the various SUBTYPES of beta thalasemmia mutations)
the AA's bind to the 3' end of the tRNA which has CCA stickied to it to sticky-covalent bind to an AA. (CCA= Can carry Amino's)
IF's (energy from GTP hydrolysis) assemble the 40s subunit with the initiator tRNA (Met) and goes away when the 60's comes in along with the mRNA.
Aminoacyl-tRNA binds here-- except for Met which has already been there. It's the site that will continue to grow and grow
Proliferating site which allows the peptide to grow via trasferring AA to A site via catalyzing peptide bond formation.
Holds empty tRNA (no more AA attached to it now) till it can get naturally bumped out by the 40/60 subunit moving along the 5'-->3'
binds to 30s, thus initation complex for mRNA never forms and yields a total misreading of the mRNA (because where do you start if no Met to tell you where the start is?!)
binds to 30s, and blocks aminoacyl tRNA from ever getting into the A site, thus how the hell do you get a chain to grow if the space is blocked off?!
binds to 50's, preventing the release of uncharged tRNA after its donated its AA. Thus, like an overstayed guest, no one else can come in. Everything has to be stagnant and further synthesis cant occur.
When snRNP's yield exons and those exons are combined in unique combos to yield equally unique proteins once the mRNA is translated. (Seen in the various SUBTYPES of beta thalasemmia mutations)
binds to 50's, preventing the release of uncharged tRNA after its donated its AA. Thus, like an overstayed guest, no one else can come in. Everything has to be stagnant and further synthesis cant occur.
M phase
G1/G0
Cell Cycle
CDK
Cyclin
Cyclin-CDK
Tumor Suppressors
G0
G1-->G0
G1
RER
Nissl Bodies
Free ribosomes
SER
Serine, threonine
Endosome
M6P
I-Cell disease
COPI
COPII
Clathrin
Peroxisome
Proteosome
Microtubule
Dynein
Kinesin
Chediak-Higashi
Mebendazole/Thiabendazole
Griseofulvin
Vincristine/Vinblastine
Paclitaxel
Colchicine
Cilia
Kartnagers
Vimentin
Desmin
Cytokeratin
GFAP
NaKATP-ase
Oubain
Digoxin, Digitoxin (cardiac glycosides)
Type I Collagen
Type II Collagen
Type III Collagen
Type IV Collagen
Collagen Synthesis
OI
ED
Alport
Elastin
Marfans:
Emphysema
Old age wrinkles
shortest phase, consists of Prophase, Metaphase, Anaphase, Telophase
Interphase parts.Variable length. Depends on the cell type and what it needs.
Interphase (G1, S, G2), Mitosis (Prophase, Metaphase, Anaphase, Telophase)
Needed for the cell cycle to be regulated. It's inactive, and can only be activated and put to use by Cyclins (CDK= puppet)
Regulatory protein that is responsible for activating/inactivating CDK, thus ultimately controlling the cell cycle events (Cyclins = Puppet Master)
The on/off relationship these two have is what will allow the cell cycle to progress properly WITHOUT over synethesizing stuff (like in cancer), or undersynthesizing stuff.
B/w G1 and S phase is Rb and p53. If Rb is hypophosphorylated and p53 is there (I assume activated?) then there is NO G1-->S progression. If there are mutations in either, then cancer occurs
Permanent cells-- stay in G0 for everrrr: stem cell regeneration--> Neurons, skeletal/cardiac MM, RBC's
Stable cells that come out of G0 only if damaged. Hepatocytes and lymphocytes
Labile cells, never ever enter G0 because they are always rapidly dividing. This would be any cell that chemo affects (hair, skin, nails, GI lining, BM, germ cells)
makes endo/exo [H], and adds N-linked oligo saccharides to proteins. (goblet cells and AB plasma cells)
RER equivalent but in the neurons (because neurologists are so neurotic and egotistic of course they have to give it a separate name...). Makes ChAT and NT's
Free floating. Never gonna go anywhere in life since its not grounded. Thus, all the proteins it makes is only for within the cell and will never be exported (cystolic and organellar proteins)
Steroid synth, and Rx/poison detox. This is the big leagues boy; you deal with streoids and drugs here. No kiddie issues. (Liver and adrenal cortex because they make steroids)
gets O-oligosacch added in golgi
Golgi sends stuff here so it can either be recycled or destroyed in the lysosome.
golgi "tags" proteins to go to lysosomes to be destroyed muaaaaahaha
When M6P is never added, so things don't get digested. Sx: coarse face, cloudy corneas, restricted
joints, and high lysosomal plasma levels (because its not being used!). Basically all these Sx make
retrograde golgi-->golgi/ER
anterograde ER/golgi-->golgi
golgi--> lysosome, PM--> endosome
catabolizes very long chain fatty acids and amino acids
Barrel shaped, ubiqutin degredation
alpha, beta tubulins in flagella, cilia and mitotic spindles. Seen in slow axoplasmitc neuron transport.
transports cell baggage WITHIN the microtubule retrograde (- --> +)
transports cell baggage within the microtubule anterograde ( + --> -)
LYST mutationis mictrotubular dysfunction that yields pyogenic infections, partial albino, and peripheral neuropathy
Rx for helminths that acts on microtubules
Rx for skin fungus that acts on microtubules
Rx for cancer that acts on microtubules
Rx for breast cancer that acts on microtubules
Rx for gout that acts on microtubules.
9+2 bundles (9 in periphery and 2 in the center) anchored to periphery by dynein arms so it can bend, and in the periphery so it can sliiiiiiiiiiide
dynein arms are messed up in cilia so Sx: male infertility, bronchiectasis, recurrent sinus infections and situs inversus
CTD
MM
Epithelial Cells
Brain (neuroGlia)
3 Na in, 2 K out.
inhibits pump via binding to K site
Inhibits pump directly. Thus, decreased Na, will INCREASE Ca thus increase heart contractility
Most common! Bone, Skin, Tendon: OI because of collagen glycosylation issues
Cartildge
Reticulin: ED because of collagen cross linking issues
BM: Alport
Synthesis in RER (Gly-Pro-Lys), Hydroxylation of Pro (needs Vc), Glycosylation (yields 3x helix with H and S2 bonds), Exocytosis from fibroblasts, Proteolytic Processing (cleaved S2's) , Cross linking (strength and stability)
Type I collagen issues, Sx: fractures, blue sclera, hearing loss because middle ear bones are abnormal and no dentin yields dental issues
Sx: joint dislocation, berry aneurysms and organ rupture. Type I, V most often implicated
Type IV issue, Xr, Sx: progressive hereditary deafness and nephritis, eye issues too!
Rich in Pro and Gly. Broken down by Elastase if a1AT is not inhibiting it
fibrillin defect
no a1AT thus EXCESS elastase activity.
reduced collagen and elastin production
Needed for the cell cycle to be regulated. It's inactive, and can only be activated and put to use by Cyclins (CDK= puppet)
Regulatory protein that is responsible for activating/inactivating CDK, thus ultimately controlling the cell cycle events (Cyclins = Puppet Master)
The on/off relationship these two have is what will allow the cell cycle to progress properly WITHOUT over synethesizing stuff (like in cancer), or undersynthesizing stuff.
B/w G1 and S phase is Rb and p53. If Rb is hypophosphorylated and p53 is there (I assume activated?) then there is NO G1-->S progression. If there are mutations in either, then cancer occurs
Permanent cells-- stay in G0 for everrrr: stem cell regeneration--> Neurons, skeletal/cardiac MM, RBC's
Labile cells, never ever enter G0 because they are always rapidly dividing. This would be any cell that chemo affects (hair, skin, nails, GI lining, BM, germ cells)
makes endo/exo [H], and adds N-linked oligo saccharides to proteins. (goblet cells and AB plasma cells)
RER equivalent but in the neurons (because neurologists are so neurotic and egotistic of course they have to give it a separate name...). Makes ChAT and NT's
Free floating. Never gonna go anywhere in life since its not grounded. Thus, all the proteins it makes is only for within the cell and will never be exported (cystolic and organellar proteins)
Steroid synth, and Rx/poison detox. This is the big leagues boy; you deal with streoids and drugs here. No kiddie issues. (Liver and adrenal cortex because they make steroids)
LYST mutationis mictrotubular dysfunction that yields pyogenic infections, partial albino, and peripheral neuropathy
9+2 bundles (9 in periphery and 2 in the center) anchored to periphery by dynein arms so it can bend, and in the periphery so it can sliiiiiiiiiiide
dynein arms are messed up in cilia so Sx: male infertility, bronchiectasis, recurrent sinus infections and situs inversus
Synthesis in RER (Gly-Pro-Lys), Hydroxylation of Pro (needs Vc), Glycosylation (yields 3x helix with H and S2 bonds), Exocytosis from fibroblasts, Proteolytic Processing (cleaved S2's) , Cross linking (strength and stability)
Type I collagen issues, Sx: fractures, blue sclera, hearing loss because middle ear bones are abnormal and no dentin yields dental issues
Synthesis in RER (Gly-Pro-Lys), Hydroxylation of Pro (needs Vc), Glycosylation (yields 3x helix with H and S2 bonds), Exocytosis from fibroblasts, Proteolytic Processing (cleaved S2's) , Cross linking (strength and stability)
Southern Blot
Northern Blot
Western Blot
Southwestern Blot
PCR
Microarrays
Direct Elisa
Indirect Elisa
FISH
Cloning
DNA sample is exposed to DNA probe that anneals to the complementary strand= dsDNA yielded
RNA sample is utilized = measure mRNA level
AB is used to bind to protein = PRO
oligonuclueotide probes = ID DNA binding PRO
multiple a specific sequence of interest
used for SNP ID
uses an AB to bind to sample's AG
uses an AG to bind to a sample's AB
bind to gene site of interest on X
mRNA of interest is exposed to reverse transcriptase --> cDNA produced. cDNA is inserted in plasmids with AB resistance
mRNA of interest is exposed to reverse transcriptase --> cDNA produced. cDNA is inserted in plasmids with AB resistance
Variabe expressivity
Incomplete Penetrance
Imprinting
Heteroplasmy
Pleiotropy
Locus Heterogenity
Loss of Heterozygosity
Dominant Negative Mutation
Linkage disequilibrium
Uniparental Disomy
Heterodisomy
Isodisomy
Homozygosity
Heterozygosity = AR
Heterozygosity = XR
AD
AR
XR
XD
mt
AD diseases
FAP
Familial cholesterol IIA
Osler Weber Rendu
Hereditary Spherocytosis
Huntington's
Marfans
Tuberous sclerosis
VHL
AR diseases
CF
XR diseases
Duchenne
Becker's
Fragile X
Triple Expansion
HD
Freidrich's
Myotonic Dystrophy
Fragile X
Trisomies
Downs
edwards
patau
Patients with same genotype have varying levels of intensity of phenotype (NF1 sx can be super mind, or real bad)
Just because you have the genotype doesn't mean you'll have the disease at all (BRCA1= not always B/C cancer)
inherited genes manifest differnently depending on if maternal or paternal origin (Prader-Willi/Angelman)
normal AND abnormal mt is inherited yielding varying degrees of mt disturbances
One gene yields different phenotypes (PKU gene = retard, skin and smell)
Different genes yield the SAME phenotype (Marfans, MEN 2B, homocystinurua = Marfinoid Habbitus)
Rb/Two Hit hypothesis with tumor suppressor genes (NOT oncgenes)
a heterozygote creates a new protein that is loud and obnoxious and prevents the regular protein from doing what its supposed to.
certain traits always get inherited together because either they are too close on the locus, BUT CAN ALSO BE ON DIFFERENT CHROMOSOMES
2 chromosome copies from one parent (hydratiform mole). Consider this as Dx if a recessive order is manifesting if only ONE parent is CARRIER
Meiosis I error
Meiosis II error
frequency of homo for either allele p/q =p^2, or q^2
2pq
q= males, q^2= females
FmHx VIP-- structural issue
only seen in one generation-- enzyme issue
females are carriers, more severe in males. NO male to male transmission
ALL female offspring of AFFECTED male's will HAVE IT. (Seen in Vd resistant rickets because of phosphate wasting)
all affected female kids have some LEVEL of symtpoms. Won't be transmitted when an affected father has a kid. (Mt myopathies= ragged red fibers+CNS, because of ox. Phos failures )
structural
will progress to colon cancer
severe heart disease early in life, xanthomas on tendons
AVM and spider veins and lots of nose bleeds-- blood vessel disorder
Spectrin, ankyrin defect = high MCHC. Tx = splenectomy
decreased ACHA/GABA
pectus excavatum, arachnodactyly, floppy mitraval valve and lens subluxation
incomplete penetrance, variable presentation
bilateral RCC, AND hemangioblastomas of retina/cerebellum/medulla
enzymatic: albino, arpkd, CF, GLG storage issues, hemachromatosis, mucopolysach (not hunters), PKU, SC anemia, thallesemias
deletion off Phenylalanine, abnormal protein folding yields degredation of the channel before it
reaches the surface of cell. High suceptibility to Pseudomonas and S. aureus infections. Sx: infertility
females are carriers, more severe in males. NO male to male transmission: Bruton's, Wiskott Aldrich,
Fabry's, G6PD, Ocular Albinism, Lesh Nyhan, Duchenne(Beckers), Hunter's, Hemophilias, Ornithine
frame shift . Biggest gene thus high to disease mutations. Dx= elevaed CPK in MM bX
mutated dystrophin. Less severe than Duchenne. Dx= elevated CPK in MM Bx
methylation issue. Sx= big balls, ears and jaw (will smith?)
ANTICIPATION! Huntington's, Fragile X, Fredrich's, Myotonic Dystrophy (TRY HUNTING for MY FRIED EGGS)
CAG
GAA
CTG
CGG
because of unbalanced robertsonian translocations. Unless down's. more OFTEN because of meiotic nondisjuntion
low afp, high bhcg, low estriol, high inhibit. Nucal translucency
low afp, low bchg, low estriol, normal inhibin
low pappa, high nucal translucency
Patients with same genotype have varying levels of intensity of phenotype (NF1 sx can be super mind, or real bad)
Just because you have the genotype doesn't mean you'll have the disease at all (BRCA1= not always B/C cancer)
inherited genes manifest differnently depending on if maternal or paternal origin (Prader-Willi/Angelman)
a heterozygote creates a new protein that is loud and obnoxious and prevents the regular protein from doing what its supposed to.
certain traits always get inherited together because either they are too close on the locus, BUT CAN ALSO BE ON DIFFERENT CHROMOSOMES
2 chromosome copies from one parent (hydratiform mole). Consider this as Dx if a recessive order is manifesting if only ONE parent is CARRIER
ALL female offspring of AFFECTED male's will HAVE IT. (Seen in Vd resistant rickets because of phosphate wasting)
all affected female kids have some LEVEL of symtpoms. Won't be transmitted when an affected father has a kid. (Mt myopathies= ragged red fibers+CNS, because of ox. Phos failures )
enzymatic: albino, arpkd, CF, GLG storage issues, hemachromatosis, mucopolysach (not hunters), PKU, SC anemia, thallesemias
ANTICIPATION! Huntington's, Fragile X, Fredrich's, Myotonic Dystrophy (TRY HUNTING for MY FRIED EGGS)
because of unbalanced robertsonian translocations. Unless down's. more OFTEN because of meiotic nondisjuntion