Use LEFT and RIGHT arrow keys to navigate between flashcards;
Use UP and DOWN arrow keys to flip the card;
H to show hint;
A reads text to speech;
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 |