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97 Cards in this Set

  • Front
  • Back
When is a gene expressed?
when the mature, active protein product is functional in the location where it is supposed to be acting
Molecular switches
what turns gene expression on and off
What can trigger molecular switches?
response to environment
during development
tissue specific
In multicellular organisms, cell function...
is determined by which genes are switched on and off
Expression in female mammals
in each cell, one X chromosome is inactive due to packing of DNA
Histones
a protein that DNA coils around
Nucleosome
group of four histones coiled together
Tight helical fiber
many nucleosomes coiled together
Supercoil
large strand made of tight helical fiber coiled together
Point of histones/nucleosomes?
DNA coiling around these prevents transcription access to these genes
Methylation
methyl groups on DNA prevent RNA polymerase access to DNA
Transcription factor
protein that binds to specific DNA sequences to block or promote RNA polymerase
Promoter
region of DNA that initiates transcription
Enhancer
short region of DNA that can be bound with proteins to enhance transcription levels
TATA box
core promoter sequence, binding site of transcription factors or histones
TBP
TATA-binding protein
TAF
TBP-associated factors
TFIID
part of the transcription initiation complex
Other proteins involved in regulation?
co-activators
suppressors
regulators
Expression of transcription factors?
feedback loops (presence/absence of product a protein works on)
signals from other cells (hormones, etc)
Signal transduction
mechanism that converts mech/chem cell stimulus into specific cellular response
Relay proteins
proteins that relay the signal transduction message to the transcription factors
Protein phosphorylation
addition of a phosphate to a protein
turns many proteins on and off
Transcription factors...
activate more than one gene in the same process
Introns
sections of RNA that interrupt sequences
Exons
sections of RNA that are expressed
Alternative splicing
removal of different introns that expresses to create different proteins
spliceosomes
RNA and protein units that remove introns from pre-mRNA sequence
Later stages of gene expression regulation
lifetime of mRNA molecule helps determine how much protein is made
protein may need to be activated
Post-transcription regulation of mRNA/protein
bound to another protein
broken down by enzymes (fast or slow)
protein - may/may not be properly folded
protein - may/may not be in proper place in cell
Regulation places in a nutshell:
access to DNA
transcription factors/RNA
alternative splicing
access to/persistence of mRNA
access to/persistence of protein
Mutation
a permanent change in the sequence of DNA
the ultimate source of all genetic variation
Somatic tissue
regular body tissue
Germinal tissue
tissue of the sex cells
Causes of mutation:
Radiation (extra energy changes stability)
Chemical
Chance (constant regeneration increases probability)
Point mutation
single to few nucleotide change
Other types of mutation:
deletions
insertions
frame-shift
Silent
Point mutation, no change in amino acid
Non-sense
Point mutation, change to a STOP codon
Mis-sense
Point mutation, different amino acid
Do changes become fixed into mutations?
Yes, after being copied in DNA transcription.
Methylation
Old DNA strand methylated, new strand isn't
dcm & dam - A&C methylator enzymes that mark bacterial DNA
Proofreading
there may be a bump that the proofreaders catch
when fixing, use methylated side as original
Hemi-methylated
one strand methylated, other strand not
Reading frame
codon
Leaky mutant
when expressed protein isn't completely finished
Hemoglobin
oxygen carrying molecule
280 million per red blood cell
DNA error repair
error in 1 for every 105 bases
proofreading
mismatch repair
excision repair
SNPs
single nucleotide polymorphisms
may or may not cause a restriction pattern site in genes
Difference between people?
0.1% DNA difference (1 in 1,000 bases)
~3 million differences
genotype
gene sequence
phenotype
expression of gene sequence
gene
group of codons that have an expression
allelle
variation of a gene
homozygus
same allelle (A & A)
heterozygus
different allelles (A & B)
gene pool
different allelles of same gene
pleitropy
1 gene can have multiple phenotypic effects
epistasis
all other effects on expression aside from genomic (inheritable)
restriction enzymes
cut DNA on specific palendromic sequences
restriction fragment length polymorphisms
cut at different sites depending on genetic variation, so resulting fragments are of different lengths
restriction map
"map" of the DNA banding pattern from gel electropherograms
haplotype
specific combinations of SNPs within a short region of DNA, not necessarily same gene
Polymerase chain reaction
DNA + nucleotides + buffer & DNA polymerase + primer
PCR thermocycling?
denaturation
annealing
extension
doubles DNA after 1 cycle
Genome
totality of an organism's genetic material
each cell contains the entire genome
Genomic DNA is organized in..
chromosomes
Chromosomes
present in pairs b/c sexual reproduction
Chromatid
one half of an x shaped chromosome
Centromere
place where chromatids meed
Humans have...
23 pairs of linear chromosomes
Binary fission
bacterial reproduction
BF2 - chromosome is replicated
BF3 - cell grows, chromosomes separate
BF4 - more growth, separation
BF5 - chromosomes totally separate
BF6 - Cell membrane/wall pinch in
BF7 - Division complete
Mitosis
eukaryote cell cycle & cell division
Chromosomes in diploid organisms?
come in pairs, numbered by size
Cell cycle
gap 1
DNA synthesis
gap 2
mitosis
(from G1 to G2 is interphase)
S phase
after s phase, chromosomes ahve two chromatids, daughter molecules. held together by centromere.
Phases of mitosis:
prophase
metaphase
anaphase
telophase
Prophase
DNA condenses
nucleus breaks down
chromosomes attach to spindle fibers
Metaphase
chromosomes move to center of cell (equatorial plate)
Anaphase
centromeres split
chromosomes move to opposite cell sides
Telophase
nuclei reform
chromosomes uncondense
cells pinch off - cytokinesis
Meiosis
2 consecutive divisions
reduction division
makes haploid gamete cells
Phases of Meiosis
prophase 2
metaphase 2
anaphase 2
telophase 2
Distribution of chromosomes...
each gamete gets one of the homologous chromosomes of each pair
Prophase - meiosis
csomes condense
n.membrane breaks down
homologs pair up
Metaphase - meiosis
paired chromosomes move to center of cell
Anaphase - meiosis
homologs pulled apart
(they stay 2 chromatid chromosomes)
Prophase 2 - meiosis
csomes condense
nuclear membrane breaks down
spindle forms & csomes attach
Metaphase 2 - meiosis
csomes move to center of cell
Anaphase 2 - meiosis
csomes split at centromere
chromatids separate, move to opposite sides
(resulting cells = haploid)
Function of meiosis
creates haploid gametes
to recombine genes for variable offspring through random sorting & crossing over
Sperm formation
equal division of cell mass each time
Egg formation
one cell stays very large through meiosis (egg) , other 3 called polar bodies
Fertilization
1n sperm + 1n egg = 2n zygote
karyotype
chromosomes laid out diagram like
Movement of cancer cells
lose contact inhibition & attachment - can now move anywhere & form tumor
Causes of indefinite replication?
mutation of telomerase
mutation of growth hormone receptors
tumor receptor gene deregulated
virus infection