Biochemistry Flashcards
2 major histone modifications
Acetylation: relaxes DNA coiling
Methylation: increases DNA coiling
Which base has a methyl group?
Thymine
THYmine has meTHYl
Which base de-aminates to uracil?
Cytosine
3 amino acids necessary for purine synthesis?
Glycine
Aspartate
Glutamine
(GAG)
2 Purine Salvage Deficiencies
Adenosine Deaminase Deficiency (SCID)
Lesch-Nyhan Syndrome (loss of HGPRT)
- Hyperuricemia, gout, pissed off, retardation, dysTonia
Nucleotide Excision Repair
Endonuclease –> polymerase/ligase
Removes bulky lesions (ex thymine dimers)
G1 phase only
Defective in Xeroderma Pigmentosum (can’t fix pyrimidine dimers)
Base Excision Repair
Glycosylase creates AP site –> endonuclease (5’) & Lyase (3’) –> polymerase beta & ligase
Throughout cell cycle
Important for spontaneous or toxic deamination
Mismatch Repair
Mostly in G2 phase
Defective in hereditary nonpolyposis colorectal cancer
Start codon
AUG (Methionine)
Stop Codons
UGA, UAG, UAA
U Go Away, U Are Away, U Are Gone
4 Types of DNA mutations
Silent (same AA)
Missense (different AA)
Nonsense (early stop)
Frameshift
Lac Operon
Genetic response to environmental change, ex w/o glucose, increased AC activity and abundant lactose causes gene expression changes
DNA is synthesized in the ___ direction
5’ to 3’ w/ 3’ hydroxyl attacking 5’ phosphate
mRNA is read in the __ direction
5’ to 3’
Eukaryotic RNA polymerases
RNA polymerase I (rRNA)
RNA polymerase II (mRNA)
RNA polymerase III (tRNA)
RNA polymerase inhibitors
alpha-amanitin (death cap): RNA polymerase II
Rifampin: prokaryotic RNA polymerase inhibitor
Actinomycin D: generic RNA polymerase inhibitor
Alpha-Amanitin
RNA polymerase II inhibitor, causes severe hepatotoxicity
Rifampin
Prokaryotic RNA polymerase inhibitor
Actinomycin D
generic RNA polymerase inhibitor, Euks and Pros
Prokaryotic RNA polymerases
Single RNA polymerase
mRNA processing steps
5’ Cap (7-methylguanosine)
splicing of introns
3’ polyadenylation
2 major amino acids in histones
lysine
arginine
Which bases get methylated for repression?
cytosine and adenine
Which base synthesis is more complicated? Purine or Pyrimidine? Which uses an intermediary base? Where do most drugs act?
Pyrimidine is more complicated and involves orotic acid intermediary. Most drugs act on pyrimidine synthesis.
Adenosine Deaminase Deficiency
too much ATP and dATP imbalances the nucleotide pool and prevents DNA synthesis
This generally causes SCID
Lesch-Nyhan Syndrome
Defective purine salvage from lack of HGPRT (creates IMP and GMP)
Symptoms: Hyperuricemia, Gout, Aggression (pissed off), Retardation, and DysTonia
Nonhomologous End Joining
No need for homology. Some DNA might be lost.
Mutated in Ataxia telangiectasia and Fanconi Anemia
Splicing
mediated by snRNPs, form lariat that is cut out
Anti-sliceosome ABs highly specific for SLE
Anti-U1 ABs associated with mixed connective tissue disease
Anti-Spliceosome Antibodies
Associated with SLE
Anti-U1 Antibodies
Associated with mixed connective tissue disease
4 arms of a tRNA
Acceptor stem (3’ CCA sequence)
T-arm (binds ribosome)
D-arm (associates w/ tRNA synthetase)
Anti-codon loop
Energy source for tRNA charging (adding amino acid)
ATP
Energy source for protein synthesis initiation
GTP
Cell cycle regulated by 3 major types of proteins
Cyclins, Cyclin-dependent kinases, and tumor suppressors
Which cell cycle regulator is constitutively expressed?
Cyclin-dependent kinases
Which amino acids are N-glycosylated?
asparagine
Which amino acids are O-glycosylated?
serine and threonine
What is added in Golgi to traffic proteins to lysosomes?
Mannose-6-phosphate
This process is defective in I-cell disease
Types of vesicular trafficking proteins
COPI (Golgi to ER, retrograde)
COPII (ER to Golgi, anterograde)
Clathrin (Golgi to other locations)
3 types of filaments
Mcirofilaments (ex actin)
Intermediate Filaments (ex vimentin, desmin)
Microtubules (ex cilia, flagella)
Vimentin stains positive in…..
Connective Tissue
Desmin stains positive in…..
Muscle
Cytokeratin stains positive in…..
Epithelial Cells
GFAP stains positive in…..
Neuroglia
Neurofilaments stain positive in…..
Neurons
2 Molecular Motor proteins for microtubules
Dynein and Kinesin
Which motor protein moves retrograde
Dynein
Which motor protein moves anterograde?
Kinesin
Pneumonic for drugs that act on microtubules
Microtubules Get Constructed Very Poorly
Mebendazole, Griseofulvin, Colchicine, Vincristine/Vinblastine, Paclitaxel
Disease with immotile cilia from dynein defect
Kartagener syndrome
Symptoms of Kartagener syndrome
infertility (males and females), increased ectopic pregnancy risk, bronchiectasis, recurrent sinusitis, and situs inversus
Types of Collagen and uses in body
Type I: Bone, Skin, Tendons Type II: Cartilage Type III: Reticulin (blood vessels) Type IV: Basement Membrane Be (So Totally) Cool, Read Books
3 main amino acids that make up collagen
Glycine, Lysine, Proline
Hydroxylation of Collagen
Occurs in RER, requires vitamin C (scurvy)
Osteogenesis Imperfecta
AD, reduced type I collagen synthesis
Broken bones, blue sclerae, hearing loss, dental issues
Ehlers Danlos Syndrome
AD or AR, poor collagen synthesis
- Type V mutation is classic
- Type III mutation is less common vascular form
Menkes disease
XR, impaired copper absorption, causes low lysyl oxidase activity
symptoms: kinky hair, growth retardation, hypotonia
Marfan Syndrome
defect in fibrillin (forms elastin sheath)
Blotting Techniques
SNoW DRoP
Southern=DNA
Northern=RNA
Western=Protein