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90 Cards in this Set

  • Front
  • Back
Which eukryotic DNA polymerase contains primase and initiates DNA synthesis?
Pol alpha
Which eukryotic DNA polymerase functions in repair but has no proofreading ability?
Pol Beta
Which eukryotic DNA polymerase replicates mitochondrial DNA?
Pol Gamma
Which eukryotic DNA polymerase elongates the leading strand and okazaki fragments?
pol delta
Which eukryotic DNA polymerase functions in repair and has proofreading ability?
Pol Sigma
______ _______ is RNA directed DNA polymerase that is seen in transposons and some viruses.
Reverse Transcriptase
_______ maintains telomeric length in cells.
Telomerase
Eukaryotic DNA is associated with tightly bound basic proteins called what?
Histones
Histones are positively charged at physiologic pH as a result of their high content of which two amino acids?
lysine and arginine
The ________ ends of histones can be acetylated, methylated, or phosphorylated and these modifications serve what purpose?
N-terminal ends: they influence how tightly the histones bind DNA and thereby affect transcription of genes.
___ _______ can fuse two pyrimidines (usually thymines) adjacent to each other in the DNA, producing a dimer.
UV radiation
This DNA damaging agent can cause double stranded breaks:
High energy ionizing radiation.
proteins associated with mismatch repair is associated with which condition?
Hereditary nonpolyposis colorectal cancer (HNPCC)
This process allows more than one protein to be made from a single gene:
alternative splicing
Many genes occur in ______ representing structually related proteins.
Families
This is the largest human gene and links muscle contractile elements to the cell membrane:
Dystrophin
What process is responsible for the fact that the proteome is significantly larger than the genome?
alternative splicing
Most SNPs are ______ the protein coding regions.
Outside
The most common type of polymorphism:
SNP (Single Nucleotide Polymorphisms)
_______ is a different form of a particular gene- SNPs contribute to this difference.
Allele
This SNP results in a change in amino acid in a protein:
Nonsynonymous.
How can SNPs outside the coding region can be associated with phenotypes?
If they affect the process of gene expression (transcription, splicing, etc.)
Mitochondrial DNA contains information about some proteins, all other mitochondrial proteins are encoded where?
In the nuclear genome- they're then translated in the cytoplasm and imported into the mitochondria.
Several genetic diseases of strict maternal inheritance are caused by mutations in ______ ______.
Mitochondrial DNA
Name the three components of nucleotides:
1. 5 carbon sugar
2. Organic base
3. Phosphate
_______ bases contain a 9 atom ring. What are the two types?
Purines - Adenine and Guanine
______ bases contain a six atom ring. What are the three types?
Pyrimidine - Cytosine, uracil and Thymine
A purine or pyrimidine base linked to a sugar:
Nucleoside
The first sugar is linked to a phosphate in a nucleotide by a ________ bond.
Phosphoester
The second and third phosphates are linked to the nucleotide by ________ bonds.
Phosphoanhydride
Why can a nucleoside enter a cell more easily than a nucleotide?
Because the phosphate group on the nucleotides is negatively charged and cannot go into and out of cells easily.
The drug 5-flurouracil is converted to its active form _______ in the body.
5-FdUMP
How does 5-FdUMP inihibit tumor cell replication?
Through inhibition of thymidylate synthase (TS) which is needed for de novo synthesis of pyrmidines (C, T and U)
Approximately 85% of an intravenous dose of 5-FU is inactivated in the liver by _________.
Dihydropyrimidine dehydrogenase (DPYD).
DNA is linked by _______ bonds between which two ends?
phosphodiester bonds between the 3' and 5' ends of adjoining residues.
Which base pairs are more themally stable?
G-C base pairs.
Each turn of the DNA helix contains on avg. _____ base pairs.
10.5
The major form of DNA is called ______.
B DNA
Generally, ______ is single stranded nucleic acid.
RNA
Unlike DNA, the base pairing in RNA is _________.
intramolecular
The temperature at which 50% of DNA is melted.
Melting temperature (Tm)
The ________ effect is related to base stacking interactions in double standed DNAm which decreases the absorption of light.
Hypochomic Effect
The peak of absorbance of DNA is _______.
260 nm
The amount of absorbed light for ______ _______ DNA is about 50% less than that for _________ ________ DNA.
Double stranded absorbs about 50% less light than single stranded.
A highly ordered complex of DNA and protein.
Chromatin
_______is not part of a core nucleosome but a linker histone associated with the linker region between nucleosomes.
Histone H1
The presence of this histone causes the nucleosomes to assmeble into a 30nm fiber.
Histone H1
NH2 groups of ______residues in the terminal tails of the core histones can be modified.
Lysine
Name two common histone modifications:
acetylation and methylation
________ of histones decreases the net positive charge in the region. What is the effect of this?
Acetylation. DNA is less ithgtly bound to histones, may be accessible to transcription machinery.
Which two enzymes are associated with histone acetylation?
Histone Acetyl Transferases (HAT) and Histone deacetylases (HDAC)
Highly condensed form of chromatin, transcriptionally inactive:
heterochromatin
Less condensed form of chromatin, transcriptionally active:
Euchromatin
The physcial ends of the chromosome that have highly repetetive DNA sequences and are devoid of genes:
Telomeres
This structure in telomeres stabilizes the chromosome by allowing the cell to distinguish it from ends of DNA broken due to damage:
G-quartet
Difference in DNA sequence between individuals:
Polymorphism
phenotype associated with quantitative loss of function, loss of one allele results in phenotype, production of both alleles needed for normal function.
Haploinsufficiency
The proportion of individuals carying a mutant allele that have an associated phenotype:
penetrance
Point mutation that does not affect the amino acid sequence of the protein:
synonymous SNP
A point mutation that changes one amino acid for another:
Missense mutation (non-synonymous SNP)
When an amino acid is changed to one of three termination codons:
nonsense mutation
What are the three termination codons?
UGA, UAA, UAG
Short, repetetive sequences of 1, 2, or 3 amino acids that can be unstable and undergo expansion that increases the number of repeats:
Microsatellite sequences (aka VNTR)
The number of ______ among individuals is highly polymorphic and can be used in DNA fingerprinting:
VNTR's
Term for increased severity of symptoms and/or earlier age of onset within subsequent generations in a pedigree.
Genetic anticipation
What are the two common retro-transposons in humans?
Alu and L1
What is the major human LINE element capable of transposition and possibly of disrupting gene function?
L1
What is the major human SINE element that is capable of transposition?
Alu
________ recognizes Uracil as a foreign base in DNA and cleaves the glycosidic bond.
DNA Glycosylase
Covalently linked cyclobutane pyrimidine dimers (thymine dimers) are caused by what?
UV light
Pyrimidine Dimers are repaired by __________.
Nucleotide Excision Repair (NER)
These are important detoxifying enzymes in the body that make drugs and other foreign chemicals in the body into more water soluble compounds that can be excreted:
Cytochrome p450
This enzyme converts a pro-carcinogen in cigarettes into a carcinogen by generating epoxides and other reactive oxygen species that covalently attach to DNA
Cytochrome p450
Recombination of free ends is used to repair what kind of DNA damage?
Double stranded breaks
What are the two ways to repair double stranded DNA breaks? Which is more error prone?
1) Homologous Recombination
2) Non-Homologous End joining
Non homologous end joining is more error prone
Recognizes DNA that doesn't contain telomeres and realigns them:
Non-Homologous End Joining (NHEJ)
How is the parent strand identified for DNA mismatch repair?
Because DNA is methylated at specific sites (hemi-methylation)
In DNA mismatch repair, the hemi-methylated site is recognized by the protein _____ and the mismatched base is recognized by ______.
Mut H and Mut S
In DNA replication, chain growth is in which direction?
5' --> 3'
Replication of DNA initiates at _________ and proceeds in both directions from there:
Origin of Replication
DNA synthesis is initiated with what kind of primer? What synthesizes this primer?
RNA primer
Primase
Which two polymerases play a role in normal DNA replication in bacteria?
Pol I and Pol III
Which bacterial DNA polymerase removes RNA primers and replaces them with DNA (has both 5'-3' exonuclease and polymerase activity)?
Pol I
What is the major replicating enzyme of bacterial DNA?
Pol III
What carries out primer synthesis in eukaryotes?
Pol alpha
Unwinds the DNA double helix:
DNA helicase
Relieves the torsional strain in DNA from the unwinding:
Topoisomerase
Type of reaction involved in topoisomerase relieving the torsional strain:
transesterfication
Name the two enzymes (one in bacteria, one in eukaryotes) that remove RNA primers
DNA Pol I (bacteria)
Fen I (eukaryotes)
What acts as the sliding clamp in DNA replication in eukaryotes? In bacteria?
PCNA (eukaryotes)
Beta subunit of DNA Pol III (bacteria)