Easy Biochem Flashcards
amino acids in histones
lysine and arginine (positive)
H1
binds to nucleosome and linker DNA to stabilize chromatin fiber
heterochromatin
condensed, methylated, Barr bodies are examples
euchromatin
less condensed, transcriptionally active, sterically accessible
methyaltion
occurs on C and A leading to decrease in transcription
histone actyelation
relaxes coiling, allows fro transcription
amino acids necessary for dna synthesis
GAG
glycine
aspartate
glutamine
characteristics of protomer regions
AT rich (TATA box)
helicase
unwinds DNA
single stranded binding proteins
prevents strand from rejoining
DNA topoismoerases
single stranded nicks to prevent supercoiling
- irinotecan/topotecan = topo 1
- etoposide/teniposide = topo 2
- fluoroquinolones = topo 2 in prokaryotes
primase
makes RNA primer
DNA pol III
only in prokaryotes, 3-5 proofreading
DNA pol I
prokaryote only, degrades RNA primer, replaces with DNA
DNA ligase
joins okazaki fragments
telomerase
eukaryotes only, adds to 3’ end, dysregulated in cancer
silent mutation
amino acid doesn’t change (due to wobble)
missense mutation
one amino acid is changes
nonsense mutation
adds a stop codon (UAG, UAA, UGA)
frameshift mutation
puts sequence out of frame
splice site mutation
keeps intron in that would have been removed
nucleotide excision repair
endonucleases removed bases, DNA pol and ligase fix, occurs in G1
- defective and xeroderma pigmentosa
base excision repair
- glycosylase remove base creating AP site
- AP endonuclease cleaves 5’ end
- lyase cleaves 3’ end
- DNA pol fills gap and ligase seals
- important in spontaneous deamination
mismatch repair
occurs in G2
- defective in Lynch sydnrome
nonhomologous end joining
- for double stranded breaks
- defective in ataxia telangiectasia, BRCA1 and Fanconi aemia
start codon
AUG
stop codons
UAG, UAA, UAG
AATAAA
polyadenylation signal in terminal exon
promoter
site where RNA pol II binds
RNA pol I
makes rRNA, most numberous
RNA pol II
makes mRNA, largest
RNA pol III
makes tRNA, smallest
alpha amanitin
in mushroom caps, inhibits RNA pol II
rifampin inhibits DAN dependent RNA polymerase
inhibits DNA dependent RNA polymerase in prokaryotes
mRNA processing by compartment
- heterogeneous nuclear RNA gets 5’ cap, poly A tail and splicing of introns in nucleus
- mRNA is translated in cytosol
- mRNA quality control includes exonuclease, decapping enzymes and microRNAs
snRNPs
used for mRNA splicing
introns vs exons
introns - junk
exons - coding
*abnormal splicing = thalessemia
microRNAs
regulate gene expression by targeting 3’ untranslated region for degradation
- implicated in cancer
CCA
3’ end of tRNA - carries amino acid
t-arm
of tRNA, tethers to ribosome
D-arm
of tRNA, detects tRNA by aminoacyl-tRNA synthetase
energy step in tRNA
use ATP to add amino acid to tRNA (aminoacyl-tRNA synthetase) *activation
steps of protein synthesis
- initiation - GTP hydrolysis, IFs assemble 40S subunit
- elongation - binds to A site, rRNA catalyzes peptide bond, transfers, moves to P site
- termination - stop codon recognized by release factor and polypeptide is released
chaperone protein
involved in protein folding
cyclin dependent kinases
constitutive and inactive
cyclins
control cell cycle, phase specific, activate CDKs
cyclin - CDK complexes
phosphorylate proteins to progress cell cycle
p53
- inhibits CDK
- hyperphosphorylation of Rb
- inhibition of G1-S progression
types of cells
permanent
labile
stable
RER
- secretory proteins
- Nissl bodies synthesize neurotransmitters
- free ribosomes are for cytosolic protines
SER
- site of steroid synthesis and detoxification
mannose-6-phosphate
for lysosomal trafficking
signal recognition particle
traffics proteins from ribosome to RER
COPI
golgi - golgi (retrograde) - ER
COPII
ER - cis Golgi (two steps forward, one step back)
clathrin
trans Golgi - lysosomes, plasma membrane - endosomes (receptor mediated endocytosis)
peroxisome
- catabolism of very long chain fatty acids, branched chain, amino acids and ethanol
peroxisomal disease
Zellweger syndrome and Refsum disease
proteasom
degrades damaged or ubiquitin proteins
- problems in some cases of Parkinsons
microfilaments
for muscle contraction and cytokinesis (Actin and microvilli)
intermediate filaments
maintain cell sturcture
microtubules
movement and cell division (cilia, flagella, mitotic spindle, centrioles)
vimentin
intermediate filament in mesenchymal tissue
desmin
intermediate filament in muscle
GFAP
intermediate filament in neuroglia
dyenin
retrograde transport
kinesin
anterograde transport
kartagener’s syndrome
problem with dynein arm
- causes situs inversus, male and female fertility problems, hearing loss, ectopic pregnancy
type I collagen is made by
osteoblasts, in skin, tendons and bone
type II collagen
cartilage, vitreous body, nucleus pulposus
type III collagen
reticulin, skin blood vessels, uterus, fetal tissue, granulation tissue,
defect in Ehlers Danlos
type III collagen
type 4 collagen
basement membrane, defect in Alports and Goodpastures
collagen synthesis steps
- synthesis - glycine proline and lysine
- hydroxylation - requires vitamin C
- glycosylation - hydrogen and disulfide bonds
- exocytosis - into extracellular space
- proteolytic processing - forms tropocollagen
- cross linking - using copper lysyl oxidase
osetogenesis imperfecta
- type I collagen disorder
- autosomal dominant
- blue sclera
- affects bones, eye, teeth and ears
Ehlers Danlos
- poor collagen synthesis
Menkes disease
- impaired copper absorption
- less activity of lysyl oxidase
- brittle hair, growth retardation, hypotonia
elastin
- rich in non hydroxylated proline, lysine and glycine
- broken down by elastase
marfan
defect in fibrillin
- autosomal dominant
- medial necrosis of media
- floppy mitral valve
- aneurysms
- subluxation of lenses
cre-lox
can inducibly manipulate genes at specific developmental points (to study a gene whose deletion causes embryonic death)
RNA interference
dsRNA blocks mRNA, blocks expression
pleiotropy
one gene contributes to multiple phenotype effects
dominant negative mutation
- nonfunctional protein prevents another product from working
- dominant
linkage disequilibirum
measured in a population
- two alleles occur together frequently
McCune Albright syndrome
- mutation in G protein signaling
- unilateral cafe au lait with ragged edges, polyostotic fibrous dysplasia, endocrinopathy
- mosaic
gonadal mosaicism
suspected in parents and relatives do not have a disease
allelic heterogeneity
different mutations in the sam locus produce the same phenotype (thalassemia)
heteroplasmy
variable expression in mitochondria disorders
Prader-Willi
maternal is normally silent, paternal is deleted
Anglemanns
maternal gene is delected
capitation
fixed fee for all services for a patient
defect in nonhomologous end joining
ataxia telangiectasia, BRCA1 and Fanconi anemia
P bodies
maintain RNA in the cytosol
anti-Smith antibodies
in lupus, anti-snRNPs
anti-U1 antibodies
mixed connective tissue disease