Term
Number of chromosomes in Human+ diploid or haploid? |
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Definition
46 and diploid- one from mom and one from dad |
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Term
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Definition
A way of staining DNA and allows us to identify chromosomes on a karyotype |
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Term
How to do chromosome painting? What is the point of is? |
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Definition
Another method to identify chromosomes. have small "probes" of DNA labelled with a special dye (different color). Hybridize with metaphase chromosomes. Align matching chromosomes |
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Term
Dosage compensation in a chromosome?
What is done to female chromosomes? |
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Definition
Adjusts number of sex cells
X inactivation of 1 X chromosome randomly (called a barr body) |
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Term
Is the barr body completely inactivated? |
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Definition
No, Xist gene activated to keep X inactivated |
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Term
Are there any genes active on the Y chromosome? If so, what are they?? |
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Definition
Yes. Pseudoautosomal regions at the tips, gives X-Y homologity. Passed down to generations of sons just like any autosomal trait would be.
Also, SRY genes (testes determining factor) which gives rise to male characteristics
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Term
Mutations on Y chromosome? |
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Definition
SRY mutation can lead to XY females if Y chromosome is mutant |
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Term
Chromosome wise, what happens in Turner syndrome? |
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Definition
Only have X chromosome. Female phenotypically. Delayed puberty,abnormal features, infertility...45X |
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Term
What is Kleinfelter syndrome? |
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Definition
47 XXY, men, less body hair, infertility, may develop breasts |
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Term
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Definition
Set of alleles at multiple loci/DNA variations/polymorphisms that tend to be inherited together |
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Term
Describe Y chromosome inheritance |
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Definition
Usually use SSRs (simple sequence repeats)
Men have recent common ancestor with these
Genghis Khan-> large percentage of descendants in Asia |
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Term
Aneuploidy? Also what other types are there? |
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Definition
Not having the same number of each chromosome
Trisomy= third copy of 1 chromosome
Monosomy= only 1 particular copy |
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Term
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Definition
extra set of all chromosomes |
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Term
What is down syndrome and its chromosomal cause? |
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Definition
result of trisomy 21
Usually caused by translocations in which genes move around positions to other chromosomes. |
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Term
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Definition
2 chromosomes try to pair up with 1 chromosome
vs
1 chrom left along |
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Term
Relationship between deletions and recessive traits? |
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Definition
chromosome which is pure breeding but has deletions will let the recessive only show
E.G Normally: ABCDE and abcde
now: ABC and abcde |
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Term
What causes duplications? |
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Definition
Unequal crossing over
in which one chromosome gets more genes from the other chromosome than should have |
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Term
What causes inversions? What is the problem with them
What happens with this problem? |
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Definition
Breaks in DNA
Fine in mitosis
Cause problems in meiosis. Form loops since opposite sides of those genes trying to attach. Everything's fine if there's no crossing over. |
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Term
Problem with crossing over in inversion loops? |
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Definition
1 chromosome will get 2 centromeres (dicentric) and the other will be acentric |
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Term
Translocations
and reciprocal translocations
Problems with the latter? |
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Definition
chromosomes break and fragments join to other chromosome
2 non homologous chromosomes break and exchange parts; problems with fertility |
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Term
Robertsonian translocations
related to what disease? |
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Definition
fusion of acrocentric chromosomes (centromere on an extreme side)
Down syndrome, since this happens with chromosome 21 |
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Term
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Definition
1 of each chromosome vs half the number of total chromosomes
if tetraploid= 36, haploid= 18, monoploid= 9 |
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Term
Purine vs Pyramidine bases?
Also, # of hydrogen bonds between each nitrogenous base pair? |
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Definition
Purine= 2 ring (A and G) Pyramidine= 1 ring (T and C)
AT= 2
GC= 3 |
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Term
Structural differences between A, G, C, and t
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Definition
2 rings
A- NH2 on top
G- C=O and NH2
1 ring
C- C=O NH2
T- C=O, C=O, CH2
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Term
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Definition
Nucleoside does not include the phosphate |
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Term
DNA replication is "semi conservative"? |
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Definition
each DNA strand is used as a template for a new strand |
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Term
Describe directionality in DNA strand + how you add the nucleotides |
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Definition
Add to 5' end towards 3' end. Read template 3' to 5'. |
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Term
If there is a mismatch pair by DNA polymerase, what fixes this? |
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Definition
exonuclease-> cleaves the mistake right out |
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Term
Direction of prokaryotic dna replication?
This vs eukaryotic replication? |
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Definition
Bi-directional. Forked, and then replicates both ways
Euk: also has a fork and is bi-directional. Can start another fork/replication process simultaneously; eventually these bubbles can fuse. |
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Term
Leading vs lagging strand in DNA |
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Definition
leading= newly synthesized DNA strand that is doing things smoothly
lagging= due to okazaki fragment |
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Term
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Definition
Method of identifying bases + sequencing the strand
Get newly synthesized dna + template
Primer kept there as a "visible" marker
place each in a tube with dNTPs, individual ddntps (end the sequence) and dna polymerase
can help sequence out where bases are individually |
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Term
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Definition
amplification of a small segment of DNA
add dntps, dna template, dna polymerase, and a buffer (adjusts ph and provides Mg++)
denature, anneal, extend-> all based on temperature; do for several cycles till you have a high amount of target dna (exponential increase) |
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Term
Phases of bacterial growth |
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Definition
exponential= increasing growth
stationary= pop stabilizes due to less resources |
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Term
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Definition
can grow in presence of ampicilin
can't synthesize methionine and therefore require it in media
can grow fine on plates with glucose but can't synthesize lactose |
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Term
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Definition
dormant cells that are not killed by most antibiotics which are targetting dividing cells
these are NOT mutant cells; just regular cells chilling out
once antibiotic is removed, the ones surviving can reestablish the infection and biofilm of cells |
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Term
Where does the genetics of DNA for bacteria come from? |
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Definition
"extra" DNA elements, aka plasmids
Most of genome contained in original circular dna |
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Term
Transformation of bacteria |
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Definition
pick up DNA from environment
usually remnants of dead bacteria (like smooth vs rough staph cells) |
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Term
Are most plasmids conjugative?
If not, what helps them to become conjugative? |
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Definition
No, but can "hitch a ride" with conjugative plasmids via recombination...if they're small enough
transposable elements + recombination helps switch gene parts around to make non conjugative plasmids conjugative (called a cointegrate) |
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Term
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Definition
this is a plasmid that has many genes, ensures its own maintanence in the cell and that it will move from cell to cell
directs f pilus formation
"rolling circle" replication so it can keep rolling out copies. nuclease makes a nick in the dna befre this process
new dna gets f factor, replicated, then both cells seperate
still, highly selected against as a form of balance
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Term
Tranduction?
generalized transducing phage vs specialized? |
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Definition
tranducing phage (virus) can transfer pieces of dna between bacteria
transfers dna by accident vs tries to transfer its own genome + specific other dna
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Term
How to detect lytic bacteria? |
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Definition
Plaque formation on colonies of bacteria on petri dish |
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Term
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Definition
phage dna enters cell + integrates itself into bacterial genoome (called a prophage); these are called temperate phages cuz they don't attack immediately
prophages can be activated, excise themselves from genome, and begin lytic phase
but before then, basically a part of the bacterial genome |
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Term
bacterial defense against prophages? |
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Definition
restriction enzymes to cut prophage out |
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Term
Prokaryotic gene structure? |
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Definition
basically...promoter region with distal elements (additional regulatory elements), coding region, terminable region |
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Term
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Definition
thymine has the extra CH3 |
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Term
steps for transcription in prokaryotes?
are there introns? |
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Definition
see promoter region (beginning of gene), chain initiation (start transcribing here), chain elongation (make rna molecule), chain termination (stop at right place); then termination happens where end of mRNA are repeats so form "stem loop"/hair pin to signal end
all done by rna polymerase
no introns. primary transcript...that's it. ends are just untranslated regions |
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Term
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Definition
RNA polymerase binds to promoter, dna seperates, keeps transcribing then in a 5->3 fashion; chain initiation and elongation; then termination
also promoter regions/enhancers much more complicated here;
5' cap and poly-A tail at ends for stability |
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Term
Can a new transcript start even before the previous one is done? |
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Definition
yes to pros; also can have transcription done from the other strand as well |
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Term
what is a ribozyme? give an example |
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Definition
RNA strands that fold up on their own + catalyze on their own
e.g. self splicing introns |
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Term
what is alternative splicing, and what's it's significance? |
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Definition
when the transcripts themselves have every other exon spliced... different proteins are made |
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Term
How is a peptide bond formed? |
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Definition
Hydrolysis
Also becomes O=C-N-H |
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Term
Transcription and translation are coupled in... |
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Definition
prokaryotes.
eukaryotes- they occur in seperate domains of the cell |
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Term
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Definition
initiation- ribosome assembles, initiation factors bind the mrna (attach at 5' cap) and help start translation at start codon
elongation- A= active sight for trna; moves and waits in p area then leaves aa behind to the growing chain
termination- stop codon, release factors recognize + help ribosome dissociate |
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Term
what enzyme catalyzes the attachment of an amino acid to trna? |
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Definition
aminoacyl-trna synthetase |
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Term
role of ribosome in translation? |
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Definition
40s= small subunit; first where everything binds; 60s is later recruited by intiation complex |
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Term
what is the shine-dalgarno sequence? kozak? |
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Definition
sequence which helps bacteria recruit ribosome to mrna to begin protein synthesis
kozak does the same but in euks |
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Term
trna structure? also how do you read an anticodon and match it to the correct codon? |
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Definition
charged; has 3 loops and bottom has the anticodon, aa attached at CCA 3' end of trna
Okay so...
5'CAU'3 = 5'AUG'3
so look at 3-> 5 of anticodon: 3'UAC'5, and then find 5'-3' corresponding codon |
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Term
termination of translation? |
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Definition
release factor moves into A site, and this indicates that the aa strand should be released from ribosome, everything now dissociated |
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Term
what is an open reading frame? |
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Definition
this is the longest strand of mrna without meeting a stop codon |
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Term
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Definition
it is the fact that the third nucleotide in the anticodon is less constrained, and therefore can fit with more than 1 codon at a time |
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Term
anticodon: inosine. significance? |
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Definition
can pair with A, C, or U...follows wobble principle |
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Term
types of protein folding? |
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Definition
polypeptide backbones/twists/turns in: right-handed alpha helix (swirly) and anti-parallel beta sheets |
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Term
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Definition
barel like structure which, with the help of heat, helps protein to fold |
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Term
coordinate gene regulation and polycistronic mrna |
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Definition
1. all genes are turned "on' and "off" as a unit
2. these are the mrna's that undergo this type of regulation |
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Term
positive regulation and positive feed back
also what does "off" really mean? |
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Definition
by default, genes in operon are "off" unless an activator turns them "on"
protein expressed turns its own genes ON-> amplifies a weak signal
mrna still being made, just at a realllyyyy small amount |
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Term
Explain the lac operon
Lac Z? (along with what enzyme)? what brings lactose into the cell? what does i, p, o, y, a, and z do? LacI?
what is an inducer and what is it in this case? |
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Definition
beta-galactosidase
these two turn lactose into gluc and glyc
lactose permease does that
i= encodes repressor
p= promoter where rna polymerase binds to
o= operator where the repressor, LacI, binds to, z/y/a= genes for sugar metabolism
this entire thing works if lactose is present
inducer turns off repressor (done to help save energy)-> this is what lactose does to LacI |
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Term
what happens if glucose is low? |
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Definition
CAMP levels are high (signaling molecule); CRP binds to CAMP, binds to p region of lac operon to positively turn the operson on to make more sugar; now can only work if lactose is present as well |
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Term
trp operon: similar to lac?
what type of pathway is this? what is the corepressor?
what senses the level of tryptophan and how? |
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Definition
the opposite: if trp is present, operon does not work because naturally it wants to produce trp
aporepressor
it is anabolic
trpL (the leader sequence; part of mRNA)
trp-TRNA is an anticodon which binds to trpL only if tryptophan levels are high...if not, this doesn't happen
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Term
what is the term for controlling transcription? |
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Definition
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Term
ribosome role in Tryptophan? |
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Definition
LOW TRYPTOPHAN LEVELS:
ribosome stalls...will not see trp-trna, and anti-terminator loop will form; transcription will continue
HIGH LEVELS:
ribosome not stalled; terminator stem loop will form (which looks like a typical terminator loop lol); trp-trna abundance; transcription terminated |
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Term
what are housekeeping genes? |
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Definition
genes common to most if not all cells, mostly for "maintainence" purposes |
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Term
does every cell in the body have the same genome? |
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Definition
Yes
the difference in function is due to genetic expressibility |
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Term
what are basal transcription factors? |
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Definition
protein that help with transcription of many genes |
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Term
in gene expression, what is "recruitment"? |
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Definition
the interaction of transcription factors and promoters/enhancers |
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Term
what are transcription factors? |
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Definition
factors which bind to DNA to activate or repress transcription |
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Term
What are the two types of transcription factors? |
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Definition
general and transcriptional activators and repressors
the second does either to specific genes; the first is just generally interacting with the operon |
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Term
what are DNA binding domain and activating domain? |
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Definition
domains of a protein
DNA binding specifically binds to sequences of DNA near regulated genes; activating= interacts with other proteins to regulate transcription |
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Term
what is the helix-turn-helix motif? |
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Definition
just a general shape of the proteins which affect gene expression |
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Term
what is the zinc finger motif? |
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Definition
folded protein specifically use this to bind dna... |
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Term
what is an upstream activator sequence? |
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Definition
another name for dna binding domains and enhancers |
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Term
what three enzymes affect galactose metabolism? |
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Definition
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Term
what happens to galactose metabolism when galactose is around? (hint, refer to the proteins in the sequence)? how about when not around? |
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Definition
gal3 binds with galactose and gal80, and goes to the cytoplasm; galactose metabolism continues with the other 3 enzymes
otherwise, no galactose means that gal 80 can inhibit gal 4, and cannot complete the full process |
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Term
Transcriptional activation requires the activating transcription factor, the basal transcription factors and...
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Definition
the RNA polymerase holoenzyme. |
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Term
chromatin remodeling complex? |
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Definition
makes it easier to access enhancers and stuff |
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Term
what is epigenetic silencing? |
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Definition
it is done by methylated silencing of genes |
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