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repressors
proteins that inhibit/decrease transcription, bind to silencers
activators
proteins that increase transcription, bind to enhancers
transcription initiation
most common way to regulate gene expression is at this level
no
[transcription occurs: yes or no] repressor protein, no inducer
yes
[transcription occurs: yes or no] repressor protein, inducer
no
[transcription occurs: yes or no] activator protein, no inducer
yes
[transcription occurs: yes or no] activator protein, inducer
yes
[transcription occurs: yes or no] repressor protein, no corepressor
no
[transcription occurs: yes or no] repressor protein, corepressor
yes
[transcription occurs: yes or no] activator protein, no inhibitor
no
[transcription occurs: yes or no] activator protein, inhibitor
trans-effect
regulation occurs even though DNA segments are not physically adjacent
cis-effect
DNA sequence must be adjacent to the gene is regulates
catabolism
[catabolism or anabolism] typically inducible
anabolism
[catabolism or anabolism] typically repressible
translational repressors
inhibit translation
block the ribosome, stabilize mRNA secondary structure
how translational repressors inhibit translation
antisense RNA
regulate translation in prokaryotes via **
feedback inhibition
final produce in a pathway inhibits an enzyme that acts earlier in the pathway
allosteric
contains two different binding sites
catalytic site (of alleosteric enzyme)
binds to substrate
regulatory site (of alleosteric enzyme)
site that binds to final product of the pathway
transcription factors
proteins that influence the ability of RNA polyerase to transcribe genes
up-regulation
binding of a transcription factor to an enhancer increases the rate of transcription
down-regulation
binding of a transcription factor to a silencer decreases the rate of transcription
silencer
sequence of DNA that binds to a repressor
enhancer
sequence of DNA that binds to an activator
combinatorial control
control of transcription controlled by many factors
nucleosome arrangement (around promoters), DNA methylation
combinatorial control methods only in eukaryotes
bidirectional
orientation independent, can function in the forward or reversee orientation
true
[true or false] most regulatory transcription factors do not bind directly to RNA polymerase
TFIID, mediator
common protein complexes that communicate the effects of regulatory transcription factors
TFIID
general transcription factor that binds to TATA box and recruits RNA polymer to the promoter
mediator
protein complex that mediates between RNA pol ii and the regulatory transcription factors
yes
[transcription activated: yes or no] activator protein, coactivator protein, TFIID
no
[transcription activated: yes or no] repressor protein, TFIID
yes
[transcription activated: yes or no] activator protein interacts with mediator
no
[transcription activated: yes or no] repressor protein interacts with mediator
binding of effector molecule, protein-protein interactions, covalent modifications
common ways that the function of regulatory transcription factors can be affected
steroid hormone
secreted into bloodstream, taken up by cells, ultimate action: affect gene transcription
reposition or remove nucleotides
methods of chromatin remodeling (eukaryotes only!)
open conformation
more transcription
closed conformation
less transcription
acetylation, methylation, phosphorylation
methods of histone modification
NFR (nucleosome free region)
region around core promoter w/out nucleosomes
-1, +1
nucleosomes that flank the NFR
DNA methylation
methyl group added to a cytosine, common in some eukaryotes
CpG islands
inhibits binding of activator proteins, near promoters, unmethlated in housekeeping genes, methylated in tissue-specific genes
true
[true or false] DNA methylation is heritable
de novo methylation
specific genes are methylated in gametes
maintenance methylation
methylation pattern is maintained in resulting offspring
miRNA (microRNA)
hairpin structure, key role in regulation of gene expression esp during development
siRNA (short interfering RNA)
originate from 2 separate RNA molecules that come together to form dsRNA (double stranded), sometimes exogenous, key role in viral infections
RNAi benefits
new form of gene regulation, defense against viruses, silencing transposable elements
mutation
heritable change in genetic material, provide allelic variation, foundation for evolution, can be detrimental
gene mutation
[gene mutation or chromosomal change] affects one gene
chromosomal change
[gene mutation or chromosomal change] affects more than one gene
point mutation
change in a single base pair, involves base substitution
transition
change of a pyrimidine to another pyrimidine or a purine to another purine (2 to 2 or 1 to 1), more common
transversion
change of a pyrimidine to a purine or vise versa (2 to 1 or 1 to 2)
C, T
pyrimidines
A, G
purines
deletions/insertions
addition/deletion of short sequences of DNA
silent
[type of base substitution] no change in amino acids
missense
[type of base substitution] one amino acid changed, neutral or inhibitory effect
nonsense
[type of base substitution] many amino acids altered, inhibitory effect: change a codon to a stop codon
frameshift
involve the addition/deletion of nucleotides in multiples of one or two (but not three); shifts reading frame
germ-line mutation
occur in gametes
somatic mutations
occur directly in a body cell
genetic mosaic
individual with somatic cells that are genotypically different from each,other
wild-type
relatively prevalent genotype
reverse mutation (reversion)
changes a mutant allele back to wild-type
suppressor
a second mutation that affects the phenotypic expression of a first mutation
false
[true or false] suppressor mutations occur at the same site as the first mutation
position effect
expression of a gene altered because of its new location
spontaneous, induced
causes of mutations
mutagens
agents known to alter DNA
environmental agents, mutagens
induced mutations caused by
depurination, deamination, oxidative stress
spontaneous mutations caused by
depurination
removal of a purine from the DNA, can be repaired, occurs before replication
apurinic (AP) site
DNA site that is missing a purine base
false (25% chance)
[true or false] replication over an apurinic site cannot result in the correct sequence
deamination of cytosine
removal of an amino group to create uracil, can be repaired
deamination of 5-methylcytosine
removal of an amino group to create thymine, cannot be repaired
oxidative stress
imbalance between synthesis and destruction of ROS (reactive oxygen species)
ROS (reactive oxygen species)
generated by normal metabolism, used by immune system to kill invading cells
base modifiers, intercalcating agents, base analogs
types of chemical mutagens
base modifiers
covalently modify the structure of a nucleotide; cause base substitutions
alkylating agents
add methyl or ethyl groups to bases
intercalating agents
contain flat planar structures that intercalate themselves into the double helix; cause frameshifts
base analogs
become incorporated into daughter strands during DNA replications
ionizing or nonionizing radiation
physical mutagen types
ionizing radiation
causes single nicks or double strand breaks; creates free radicals; includes x-rays and gamma rays
nonionizing radiation
causes thymine dimers which cause mutations during DNA replication; includes UV light
mutation rate
likelihood that a gene will be altered by a new mutation; not constant
mutation frequency
total number of mutant genes divided by the total number of genes
Ames test
tests to see if an agent increases the reversion rate (His- to His+)
detection, removal, normal synthesis
DNA repair process
direct repair
enzyme recognizes incorrect alteration and directly converts it back to correct form
photolyase
repairs thymine dimers, uses light