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126 Cards in this Set

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gene
a series of nucleotides that codes for the production of a single polypeptide, mRNA, rRNA, or tRNA
genome
entire sequence of DNA in an organism
central dogma
DNA -> RNA -> protein
DNA
deoxyribonucleic acid
nucelotide
made of a phosphate group, a 5' carbon sugar and a nitrogenous base (purines or pyrimidines)
purines
adenine and guanine
pyrimidines
cytosine and thymine
phosphodiester bond
bonds between nucleotides
phosphate backbone
OH groups on 5' and 3' carbons are joined to phosphate groups by phosphodiester bonds
5' - 3' directionality
5' carbon is attached to a phosphate group and the 3' carbon is attached to a -OH group
antiparallel
DNA strands lie in opposite directions
Top: 5' - 3'
Bottom: 3' - 5'
double stranded
the two strands are connected by hydrogen bonds
base pairing
adenine forms two hydrogen bonds with thymine
cytosine forms three hydrogen bonds with guanine
complementary strands
when the the two strands line up with proper base pairing
double helix
curled form of DNA
semi-conservative
one strand from the original and a newly synthesized strand
bi-directional process
leading strand
lagging strand
replication on strand reading 3'-5' synthesized in one go since nucleotides are added 5'-3'
formed in Okazaki fragments since it's being read in pieces
helicase
enzyme that unzips DNA helix
primer
10 ribonucleotide long RNA added to DNA strand that initiates replication of new strand
built by RNA polymerase
DNA polymerase
enzyme that builds DNA strands by can only add nucleotides to an existing strand
the existing piece is called the primer
DNA ligase
moves along the lagging strand and ties the Okazaki fragments together
telomeres
repeated nucleotide units that protect the chromosome from being eroded during replication
catalyzed by telomerase
mRNA
mRNA - delivers DNA code for amino acids from nucleus to cytosol where proteins are manufactured
rRNA
synthesized in the nucleolus; combines with proteins to form the ribosome, the complex that directs synthesis of proteins in the cytosol
tRNA
collects amino acids in the cytosol and transfers them to the ribosomes for incorporation into proteins
RNA
ribonucleic acid; 2' carbon has OH group attached
transcription
DNA template used to manufacture RNA in the nucleus on the mitochondrial matrix
initiation
beg. of transcription, which incl proteins finding a promoter on the DNA strand
promoter
sequence of DNA nucleotides that indicates transcription start point
located upstream from gene
elongation
RNA polymerase transcribes one strand (template/antisense) of DNA into complementary RNA nucleotide sequence
termination
end of transcription, which requires a special termination sequence and proteins to dissociate RNA polymerase from DNA
activators
bind closely to DNA, close to promoter and activates RNA polymerase
allosterically regulated by other molecules such as cAMP
binding site located upstream from promoter
repressors
bind closely to DNA, close to promoter to repress RNA polymerase
allosterically regulated by other molecules such as cAMP
binding site located downstream from promoter
operon
sequence of BACTERIAL DNA consisting of operator, promoter and genes that contribute to a single prokaryotic RNA
some eukaryotes have them
primary transcript
initial nucleotide sequencing arrived at through transcription in nucleus
5' cap
attachment site in protein synthesis and as protection against degradation by exonucleases
poly-A tail
protection against exonucleases for 3' end
introns
portions of mRNA that will get removed from primary transcript BEFORE leaving the nucleus
exons
portions of mRNA that will remain in primary transcript
snRNPs
recognize nucleotide sequences at the end of introns
w/ proteins, form spliceosome that excises out introns and splices exons together
small nuclear ribonucleoproteins
denature
when two strands of DNA molecules come apart due to disruption of hydrogen bonds by heat, high concentration salt solution or high pH
nucleic acid hybridization
when complementary nucleotide sequences spontaneously associate
combos formed:
DNA - DNA
DNA - RNA
RNA - RNA
restriction enzymes
digest/cut nucleotide sequences only at specific points in chains
palindromic
reads the same backwards as forwards
recombinant DNA
two DNA fragments, regardless of origin, that can be joined together if cleaved by the same restriction enzyme
vector
DNA molecule that can carry foreign DNA into a cell and replicate there
can be a plasmid or an ineffective virus
plasmid
small ring of DNA that carries accessory genes separate from those of a bacterial chromosome
clone
identical cells
typically formed via recombinant DNA
clone library
saved copies of bacterial DNA with foreign DNA inserted
screening
finding bacteria which have not taken up the vector/plasmid, as well as the vectors/plasmids which have not taken up the DNA fragment
probe
radioactively labeled complementary sequence of a DNA fragment
complementary DNA (cDNA)
DNA that is reverse transcribed from mRNA by using reverse transcriptase
adding DNA polymerase produces the second strand
polymerase chain reaction (PCR)
1. DNA is denatured with heat and then cooled
2. primers hybridize to complementary ends of DNA strands
3. heat resistant polymerase adds nucleotides to second strand
process can be repeated as many times as necessary
southern blotting
identifies specific sequences of DNA by nucleic acid hybridization
northern blotting
identifies specific sequences of RNA by nucleic acid hybridization
western blotting
using antibodies, detects a particular protein in a mixture of proteins
restriction fragment length polymorphisms (RFLP)
differences in the restriction sites on homologous chromosomes that results in different restriction fragment patterns
DNA fingerprints used to ID criminals
genetic code
mRNA nucleotides strung together which translate the DNA nucleotide sequence into an amino acid sequence that ultimately makes a protein
degenerative
more than one codon sequence can code for a single amino acid
unambiguous
any single codon will ONLY code for one amino acid
codon
three consecutive nucleotides on a strand
stop/termination codons
UAA, UGA, UAG
start codon
AUG
translation
process of protein synthesis directed by mRNA
also involves rRNA, tRNA
anticodon
carried by tRNA, the nucleotides that are complementary to the codon of mRNA
ribosome
complex formed by rRNA and proteins, which provides the site for translation
composed of small and large subunit
nucleolus
organelles that manufacture ribosomes
prokaryotes do NOT have them
P site
holds the tRNA carrying the growing polypeptide chain
where the tRNA possessing the 5' CAU 3' anticodon sequesters the start codon and settles in
initiation
brings together mRNA, tRNA with the first amino acid of the polypeptide and the ribosome
elongation
amino acids are added one by one to the preceding amino acid
A site
holds the tRNA carrying the next amino acid to be added to the chain
catalyzed at the expense of two GTPs
translocation
ribosome shifts three nucleotides along the mRNA towards the 3' end
requires the expenditure of GTP
E site
location from which discharged (and empty) tRNAs leave the ribosome
termination
end of translation, signaled by a stop codon reaching the A site
ribosome breaks up into subunits to be used for protein synthesis later
post-translational modifications
sugars, lipids or phosphate groups may be added to amino acids
signal peptide
20 amino acid sequence near the front of the polypeptide that signals the polypeptide to the ER
recognized by the signal-recognition particle (SRP)
signal-recognition particle (SRP)
carries the entire ribosome complex to a receptor protein on the ER
mutation
any genomic alteration that is not genetic recombination
gene mutation
alteration in the sequence of DNA nucleotides in a single gene
chromosomal mutation
when the structure of the chromosome is changed
mutagens
chemical agents that can cause mutations
point mutation
a mutation that alters a single base pair of nucleotides
base pair substitution mutation
when one base pair is replaced by another
form of a point mutation
missense mutation
a base pair mutation that occurs in the amino acid coding sequence of a gene
may or may not alter the sequence of a protein
insertion/deletion
additions or losses of nucleotide pairs in a gene
frameshift mutation
when the deletions or insertions occur in multiples other than 3
often result in a completely non-functional protein
nonsense muation
if an insertion or a deletion mutation creates a stop codon
harmful because they typically prevent translation of functional protein entirely
chromosomal deletions
when a portion of the chromosome breaks off or is lost during homologous recombination and/or crossing over events
chromosomal duplications
when a DNA fragment breaks free of one chromosome and incorporates into a homologous chromosome
chromosomal translocation
when a segment of DNA from on chromosome is inserted into another chromosome
caused by transposition, which takes place in prokaryotic and eukaryotic cells
chromosomal inversion
the orientation of a section of DNA is inverted on a chromosome
caused by transposition, which takes place in prokaryotic and eukaryotic cells
transposable elements/transposons
DNA segments that can excise themselves from a chromosome and reinsert themselves into another location
they can contain one or many genes, or just a control element; way for somatic cell to alter its genetic makeup without meiosis
forward mutation
mutation that tends to change the organism even more from its original state
refers to mutated organism that is mutating again
backward mutation
mutation that tends to change the organism back to its original state
refers to mutated organism that is mutating again
wild type
the original state of the organism
chromosome
chromatin associated with each of 46 DNA molecules
each contains hundreds or thousands of genes
trait
a detectable variation in a genetic character
for example, eye color
homologues
chromosome pairs of the same length, centromere position and staining pattern that possess genes for the same characters at corresponding loci
one comes from mom and the other from dad

same traits, different genes
diploid
any cell that contains homologous pairs
haploid
any cell that does not contain homologous pairs
interphase
1. the period in the cell cycle when the cell is not dividing
2. metabolic activity is high; chromosomes and organelles are duplicates, and cell size may increase
G1
S
G2
G1 phase
the first growth phase consisting of the portion of interphase before DNA synthesis begins
cell grows in size and produces new organelles and proteins
G0 phase
non-dividing state in which a cell has left the cell cycle
not part of interphase
mature neurons and muscle cells remain here permanently
S phase
synthesis phase in which DNA is replicated
each chromosome is exactly duplicated, but understood to be made of sister chromatids
chromatids
replicated forms of a chromosome joined together by the centromere
G2 phase
1. second growth phase after DNA synthesis occurs
2. organelles continue to duplicate; RNA and protein are actively synthesized
G2 checkpoint looks for mitosis promoting factor
mitosis
nuclear division without genetic change
PMAT
prophase
1. nucleolus and nucleus disappear
2. centrioles move to opposite ends of the cell
3. spindle apparatus forms
4. chromatin condenses into chromosomes
centrioles
pair of cylinders of microtubule triplets that are involved in cell division
spindle apparatus
apparatus that forms from microtubules radiating from centrioles
centromeres
the centralized region joining two sister chromatids
spindle microtubules
connects the two centrioles
kinetochores
a specialized region on the centromere that links each sister chromatid to the mitotic spindle
metaphase
1. spindle is complete
2. chromosomes align at the metaphase plate
anaphase
1. sister chromatids split at their attaching centromeres
2. move towards opposite ends of the cell
cytokinesis
actual separation of cellular cytoplasm
telophase
1. nuclear membrane reforms
2. nucleolus reforms
3. chromosomes decondense
3. cytokinesis continues
meiosis
double nuclear division that produces four haploid germ cells (genetically distinct)
prophase I
1. homologous chromosomes line up, matching genes
2. exchange DNA sequences in crossing over
chromatids are tetrads
metaphase I
1. tetrads remain attached and move to metaphase plate
anaphase I
1. homologues (tetrad) are separated from partners
telophase I
1. nuclear membrane reforms and cytokinesis begins (humans)
2.
secondary spermatocytes/oocytes
haploid cells with 23 replicated chromosomes
chromosome here = 2 sister chromatids
first polar body
one of the oocytes that is smaller and degenerates to conserve cytoplasm
may or may not go through meiosis II producing two polar bodies
meiosis II
looks very similar to mitosis
nondisjunction
if during anaphase I or II, the centromere of a chromosome doesn't split