Tutoring Flashcards
telomere
end of chromosome
get shorter every replication-why we age
evenually can’t replicate well
chromsome can be single or
two sister chromatids
both have centrosomes
certain cancers have more
telomerase (redoes telomeres) and can proliferate faster without loss of telomeres
metacentric, submetacentric, telocentric, acrocentric
placement of centromeres, review photos
genotype
what gene do you have
heterozygous and homozygous
complete dominant, co dominance (spotts), incomplete dominance (pink flowers)
phenotype
what gene is expressed (what do you look like)
each chromosome has a p and q arm
44 autosomes (22 pairs)
x y
karyotype is 46XX, XY
location of specific gene 12q15.2 (chrom arm, subband, band) or size, banding pattern, centrosome position
lyonization inactivation of one x chromsomes (can be mosaic)
barr body-inactivated x
mosaicism
-different cells have different genotypes
pleiotropy
one gene effects 2 or more phenotypes
variable expresicvity
genotype can present differently in different people
penetrance
geneotype doesn’t equal phenotype
anticipation
huntington’s gets worse each generation
locus of hterogenity
many genotypes, one phenotype
x linked dominant males transmit to females
100% of the time
females transmit to all children 50% of the time
x linked recessive
mother to son trait normally
affected fathers make carrier daughters
colorblindness
heteroplasmu
certain number of mt mutations before dz presentation
homologous recomination same thing as
crossing over
what makes the differences between siblings
also random segregation (chromosomes separate into different cells)
translocation
reciprocal exchange of material betwen two chromosomes
robertsonian-translocation only between acrocentric chromosomes (13, 14, 15, 21, 22) result in extra chromosome (pataeu and downsyndrome)
will result in trisomies and monosomies
genomic imprinting
normal, one allele is turned off via methylation
example is 15q11-13 prader willi/angelman
uniparental disomy
2 copies of same chromosome from 1 parent
can also cause PW/angelman
gene frequency
proportion of each genotype in population (p2, q2, 2Pq)
allele frequency
proportion of allele in population (p and q)
know central dogma
replication, transcription, translatino, reverse tarnscription
DNA
ds and antiparelle, sugar phosphate backbone is negatively charged, 10b per turn, two H for AT, 3H for GC
histones epigenetics
octamer protein, lots of Luys and arg. + charge
- DNA wraps around Histones with H bonds
modifications of histones tells DNA what form to be in
acetlation with HATs
activates DNA
deacytlation with HDACs
deactivates DNA
methylation of DNa
deactivates DNA
methylation of histones
can activate or deactivate
DNA methylation done by
methyl transferases (INHIBIT/deactivates)
happens in promoters rich in CG islands
assocaited with genomic imprinting (inactivate one copy of a gene)
lyoniazation (inactivate chromosome X)
aging
carcinogenesis
one histone and 146 bp DNA make
nucleosome
many nucleosomes in line make chromatin
heterochromatin tight, not active
euchromatin light actve
copy number vairaitions
makes us different (ethinc)
miRNA
micro rna, contorl expression of other genes by stopping mRNA
long terminal repeats
long repeats of DNA of viruses, used to insert into human DNA
replication
5’3 direction
dnal helicase opens uses atp ssDNA bp=stabilizes dsDNA topoisomerase prevents supercpos know leading and lagging know different dna polymerase
UV radiation
pyrimidine dimers (cancers)
ionizing
ds DNA break Xrays
DEPURINATION
CUT OUT A/G
DeAMINATION
A HYP
G XAN
U-URIC ACID?
cross linking
nitrogen mustard (poison gas) cisplatin (anticancer) mitomycin
alkylating
DMS,MMs cleaning
intercalating
ethidium bomide, thalidomide, docorubicin (cancer)
know how XP and colon cancer and cockayne
know the enzymes used in the NER/MER
protein synthesis initiation
always met, uses 1 GTP, binds P sites, requires eIF2 )has GTP)
small unit binds with mRNA
uses ATP to slide along using GTP=GDP to attach large unti
aminoacyl tRNa binds the A
large unit slides first, small second
shine dalgardno start codon in prokaryotes
protein synthesis elongation
need 2GTP for every 1 AA added
for amking bond and attaching
protein synthesis termination
UAA, UAG, UGA in A release
uses 1 GTP
know mutations
silent-no change in aa
missense change in aa no effect (or big effect)
nonsense-early termiantion
frameshity-change in sequence
sickle cell
missense glu-val
dmd
framshift
beta tal
frameshift
shiga binds to
60S
ricin binds to
60s
streptomucin binds to
30s
clinda binds to
50s
ertyrhomicine binds to
50s
tetracyclin binds to
30s
puromycin causes
premature chain termination in both
cloramphicol
stops prok. peptidyl transferase
cyclohex
inhib. euk peptidyl transferase
dipth. toxin inactivates
EF2GTP (elogation factor?)
know diagram for protein sorting
know it
know tim and tom
cell cycle
g1 growth and protein synthesis s dna rep g2 check stability m mitosis g0 quiesence
2n means g1
4n means g2
CDKs bind with
cyclins and drive forward
cdk2 g1 to s
cdk1 g2-m
know dkis
and inhibitors
know diagram for
cdk cyclins
im a gimp rag
hallmarks for cancer
apoptosus
dna damage: upregualtion of BAX/bak releases cyt c apoptosome forms and caspase 9 activates caspase 3, 6, 7 activation
receptor signaling: fas/TNF bind receptor make fADD activates caspase 8 activatse caspases 3.6.7
know different stem cells and potency
know it
iPS cells
induced transcription factors into adult cells to make stem cells
teratoma
SCNT
takes anucleated egg cell and inserts nulceus from another cell and makes individual’s own embyronic stem cell
know different signaling
know it
GPCR
ligand binds receptor confromational change GPCR bind Gp protein GTP echange Ga dissociats and does stuff
Gq
activaes phospholipase c
Gs activates adenylate cyclase
gi inhibts adenylate cyclase
gt stimnulates
cGMP phosphodiestrase
know when epi binds to a b and an a receptor
B goes with S
A goes with I
QISS
1a 2a b1 b2
if you inhibit cGMP
you keep cGMP around
ras dependent
ras-mapk-gene trasncription
ras indepdent
pi3k-pkb-altered protein and enzyme activity
ras mapk
transcriptopn-glucokinase
ras independent
activates glyocgen synthase and glut 4 to plasma membrane