Term
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Definition
| alteration in DNA sequence |
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Definition
| happen naturally and randomly |
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Definition
| happens from some type of influence |
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Definition
| occur in any cell except germ cells and aren't heritable |
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Definition
| occur in gametes and are inherited |
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Term
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Definition
| occur within genes on the autosomes |
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Term
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Definition
| occur within genes located on the X chromosome |
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Term
| Recessive autosomal mutation |
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Definition
| often doesn't result in a detectable phenotype. In other words, the mutation rarely has an effect |
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Term
| Dominant autosomal mutations |
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Definition
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Term
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Definition
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Term
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Definition
| inserting or deleting a base causes the frameshift to change. If 3 bases are added or deleted, the frame of reading stays the same because the other amino acids in other positions will still translate the same as it would've before the mutation occurred |
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Term
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Definition
| a triplet is changed which changes resulting in a different amino acid being translated. this ultimately results in a different protein |
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Term
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Definition
| a codon gets changed into a stop codon which results in premature translation |
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Term
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Definition
| changes the codon but the same amino acid gets translated so the resulting protein is unchanged |
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Term
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Definition
| When a pyrimidine replaces a pyrimidine or a purine replaces a purine (same replaces same) |
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Term
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Definition
| A purine replaces a pyrimidine or vice versa (replaces opposite) |
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Definition
| obviously result in death |
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Term
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Definition
| the effect of the mutation is only noticed under certain conditions |
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Term
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Definition
| happens in the part of the genome that don't contain genes so they have no effect |
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Term
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Definition
| the misalignment of the complementary DNA strands which leads to repeats |
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Term
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Definition
| when one of the 4 bases switches to an alternative form of itself, such as thymine switching from the keto form to enol form. This causes T to bind with G and A to bind with C |
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Term
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Definition
| the process of where a purine is loss leading to a spontaneous mutation |
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Term
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Definition
| the process where an amine group is removed leading to a spontaneous mutation |
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Term
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Definition
| when the DNA is exposed to too much oxidation |
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Term
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Definition
| are DNA sequences that move from one location to another. These can thus act like mutagens |
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Term
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Definition
| any agents that induce mutations |
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Term
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Definition
| a chemical that can substitute for purines or pyrimidines during replication causing an obvious mutation |
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Term
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Definition
| agents that add alkyl groups to to nucleotides to change how the success of base pairing |
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Term
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Definition
| cause frameshift mutations by inserting themselves purines and pyrimidines |
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Term
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Definition
| creates pyrimidine dimers that changes the conformation of DNA that leads to errors during replication |
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Term
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Definition
| X rays, gamma rays, and cosmic rays which can all cause mutations |
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Term
| Two causes of spontaneous mutations |
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Definition
| replication errors and base modifications |
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Term
| Three causes of replication errors |
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Definition
| point mutation, deletion and insertion |
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Term
| Three causes of base modification |
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Definition
| tautomeric shift, depurination, deamination |
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Term
| Three cuases of induced mutations |
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Definition
| oxidative damage, transposons, radiation and chemicals |
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Term
| 4 kinds of radiation and chemical agents that causes induced mutations |
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Definition
| Base analogs, alkylating agents and acridine dyes, UV light, ionizing radiation (rays) |
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Term
| Duchenne muscular dystrophy |
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Definition
| caused by a frameshift in the dystrophin gene, more severe |
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Term
| Becker muscular dystrophy |
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Definition
| caused by an alteration in protein sequence, less severe |
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Term
| Trinucleotide repeat sequences |
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Definition
| are abnormal amounts of trinucleotide repeats and can cause disorders such as Huntington disease and fragile X syndrome |
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Term
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Definition
| the phenomenon where the number of trinucleotide repeats in someone with a disorder may increase in each subsequent generation |
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Term
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Definition
| a test used to determine if a certain chemical is mutagenic |
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Term
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Definition
| Autotrophs that are missing histidine is combined with the chemical to test. If after plating the bacteria survive then you know the chemical is a mutagen because it caused a mutation in the bacteria that allowed it to grow histidine and thus survive. If very little amounts of bacteria survive then the chemical isn't a mutagen. |
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Term
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Definition
| The process of recognizing and correcting errors during replication. keyword during |
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Term
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Definition
| corrects errors AFTER proofreading, keyword after |
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Term
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Definition
occurs when DNA replication skips over a lesion and requires homologous recombination mediated by the RecA protein.
When it skips over the legion, the complementary sequence is cut from the opposite strand and is inserted into the gap that formed. The new gap that is formed is then filled. The RecA protein allows for the recombinational exchange. |
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Term
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Definition
| Is a last resort, it will just insert A's into any gaps or mismatches it finds |
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Term
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Definition
| removes thymine dimers caused by UV light. Depends on photoreactivation enzyme (PRE) |
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Term
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Definition
removes mutation by a nuclease
fills gap by DNA pol
seals the gap by DNA ligase
It first has to recognize the incorrect base by DNA glycosylase which removes the base
The DNA backbone at this point is then cut out by AP endonuclease. DNA pol adds the correct base, ligase seals the gap |
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Term
| Nucleotide excision repair |
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Definition
| removes bulky lesions (like dimers). Is very similiar to base excision except it removes who legions instead of a single base |
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Term
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Definition
| when you lose the ability to undergo nucleotide excision repair |
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Term
| DNA double-strand break repair |
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Definition
Happens when both DNA strands get broken due to some type of damage. Repairs both strands at the same time (homologous recombinational repair)
The 5' ends of the broken strands get digested and the 3' ends uses a nondamaged sister chromatid as a template to reproduce the broken strand |
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Term
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Definition
| mutations that do not allow an organism to grow on minimal medium, but do allow the organism to grow on complete medium. |
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Term
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Definition
| results from a mutation in the gene encoding dystrophin |
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Term
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Definition
| defect in nucleotide-excision repair |
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Definition
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Term
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Definition
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Term
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Definition
Has a regulatory region (promoter plus operator) and a structural region (lazC, lacY, and lacA)
Operon is required to metabolize lactose |
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Term
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Definition
| encodes for B-galactosidase, which converts lactose to glucose and galactose |
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Term
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Definition
| specifies structure of permease, which facilitates entry of lactose into the cell |
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Term
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Definition
| codes for transacetylase, which removes toxi by-products from lactose digestion |
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Term
| Negative control of lac operon |
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Definition
in this system, transcription of the operon will only occur when the repressor fails to bind to the operator region. This occurs when there's lactose present so the operon can be transcribed and lactose can get broken down. The lactose will bind to the repressor changing it shape. Essentially, you only make the enzymes to break lactose down when you have lactose available.
Transcription will not occur when the repressor binds to the operator (ie, when there's no lactose present). You don't want to make enzymes to break down lactose when you don't have any available to break down. |
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Term
| Positive control of lac operon |
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Definition
Based on the CAP protein.
When there's lactose available but no glucose, there's lots of cAMP available. CAP-cAMP binds to the CAP binding site making it easier for RNA pol to bind and thus easier transcription
When there is glucose present, CAP can't bind because of low cCAMP levels (can't make that binding complex) so the repressor is able to bind and thus no transcription |
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Term
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Definition
produces tryptophan
When there's trp present, the operon is repressed. Trp will bind to the repressor and both together will bind to the operon blocking transcription
When there's no tryp, the repressor can't bind because it needs tryp so transcription will occur |
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Term
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Definition
| a leader sequence containing a regulatory site that precedes trp structural genes |
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Term
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Definition
a mechanism where expression of the rest of the trp operon is repressed after transcription of the leader sequence
In the presence of tryptophan, the hairpin structures formed act as a transcriptional terminator.
In the absence of tryptophan, a different hairpin forms and acts as an antiterminator, and transcription proceeds |
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Term
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Definition
| forms in the absence of tryptophan and stalls the ribosome because there isn't the correct tRNA available. this will allow for transcription to proceed |
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Term
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Definition
a protein used by a bacteria that during attenuation of the trp operon, binds and forms a terminator hairpin. transcription stops
However if there's uncharged tRNA available, anti-TRAP will form which will induce transcription |
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Term
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Definition
has both positive and negative control controlled by the AraC protein.
AraC binds to the araI region in the presence of arabinose and CAP-cAMP inducing expression
In the absense of arabinose and CAP-cAMP, AraC binds to both the araI and araO2 region forming a loop that represses the gene |
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Term
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Definition
| one that requires a substrate to "turn on" (RNA polymerase only binds in the presence of lactose) |
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Term
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Definition
| one that requires a substrate to "turn off" (RNA polymerase is always bound unless there is a high concentration of tryp) |
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Term
| Basal (general transcription factors) |
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Definition
| are required for RNA pol 2 to bind to the promoter |
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Term
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Definition
| a general transcription factor that binds to the TATA box with the help of TATA binding protein |
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Term
| Two domains of transcription factors |
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Definition
DNA binding domain
trans-activating domain that activates or represses transcription through protein-protein interactions |
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Term
| 3 domains of DNA-binding proteins |
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Definition
helix-turn-helix
zinc finger
basic leucine zipper motifs |
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Term
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Definition
| a group of activators that bind to enhancers and interacts with the transcription complex |
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Term
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Definition
| genes of yeast that are inducible by the presence of galactose but only when the presence of glucose is low |
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Term
| Posttranscriptional regulation |
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Definition
Obviously regulation that occurs after transcription. Includes
alternative splicing
mRNA stability
translation
protein stability |
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Term
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Definition
| generates different forms of mRNA from a pre-mRNA which leads to different kinds of proteins being created |
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Term
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Definition
| the number of proteins that a cell can make. Is not related to the number of genes because multiple proteins can arise from one gene through alternative splicing |
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Term
| Genes that a part of gene regulation for Drosophilia |
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Definition
Sxl, tra, and dsx. These are all genes that regulate sex determination
Sxl gene acts as a switch that selects the pathway of sexual development by controlling splicing of dsx |
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Term
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Definition
| the type of regulation where translation plays a role in mRNA stability |
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Term
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Definition
| uses the protein Dicer to cut double stranded RNA moleculues into small interfering RNAs (siRNAs) that bind to the RNA-induced silencing complex for unwinding |
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Term
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Definition
| addition of methyl groups to the cytosine of CG doublets |
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Term
| 3 reasons why gene regulation in eukaryotes is more complex than in prokaryotes |
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Definition
larger amount of DNA
larger number of chromosomes
mRNA processing |
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Term
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Definition
the area that each chromosome occupies which separates them from other chromosomes
the edges of the territories contain transcriptionally active genes |
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Term
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Definition
| areas between chromosome territories that contain little to no DNA |
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Term
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Definition
| involves the repositioning or removal of nucleosomes on DNA |
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Term
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Definition
| enzyme that catalyzes histone acetylation of the nucleosome which increases transcription |
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Term
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Definition
| remove acetate groups from histone tails which decreases transcription |
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Term
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Definition
| remodels nucleosome structure in several ways such as loosening the attachment between histones and DNA or by loosening DNA from the nucleosome core. This allows for different chromosomal regions to be accessible to transcription proteins |
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Term
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Definition
| decreases gene expression because the methyl groups stick out? |
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Term
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Definition
| nucleotide sequences that serve as recognition sites for transcription to take place such as the TATA box |
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Term
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Definition
| region where RNA pol 2 binds for transcription |
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Term
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Definition
| several short DNA sequences that increase transcription rates |
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Term
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Definition
| cis-acting elements that repress the level of transcription |
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Term
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Definition
| proteins that bind to cis acting sites to regulate expression |
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Term
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Definition
| provides an example of how a gene can be transcriptionally regulated through the interplay of multiple promoter and enhancer elements and the transcription factors that bind to them |
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Term
| Cancer cells share two fundamental properties: |
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Definition
unregulated cell proliferation
metastatic spread |
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Term
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Definition
| the property of cancer cells where they all originated from a common ancestral cell that went through many mutations |
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Term
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Definition
| the formation of a tumor. each successive step results from a genetic alteration that makes the cell progressively lose control on its growth and proliferation |
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Term
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Definition
the high level of genomic instability in cancer cells
Genomic instability comes in the form of:
translocations, aneuploidy, chromosome loss, chromosomal deletions |
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Term
| Inherited cancers caused by defects in genes |
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Definition
xeroderma pigmentosum
chronic myelogenous leukemia
hereditary nonpolyposis colorectal cancer |
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Term
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Definition
| a specific chromosomal abnormality that is associated with chronic myelogenous leukemia (CML). It is the result of a reciprocal translocation between chromosome 9 and 22 |
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Term
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Definition
| the study of factors that cause DNA modifications in a heritable way without affecting the nucleotide sequence of DNA. This includes methylation and histone acetylaion |
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Term
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Definition
| the cell cycle phase where metabolically active cells go even though they aren't growing or dividing. Cancer cells bypass G0 and just keep growing and dividing |
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Term
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Definition
| initiates a program of gene expression that propels the cell out of G0 and back into the cell cycle. Cancer cells however often have defects in signa; transduction pathways |
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Term
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Definition
| when a cyclin is present, it binds to a specific CDK triggering a CDK/cyclin complex. The complex activates the changes necessary for the cell to advance through the cell cycle. |
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Term
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Definition
| programmed cell death. Will occur when the DNA is so fucked up |
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Term
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Definition
| a series of proteases responsible for initiating apoptosis and digesting intracellular components |
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Term
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Definition
genes whose products promote cell growth and division
Includes transcription factors, signal transduction molecules, and cell-cycle regulators |
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Term
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Definition
| a proto-oncogene that is mutated and contributes to the development of cancer |
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Term
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Definition
| genes who products normally regulate cell-cycle checkpoints or initiate apoptosis |
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Term
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Definition
encode signal transduction molecules that regulate cell growth and division
When these get mutated, they get frozen into their active state which will constantly stimulate the cell to divide |
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Term
| Two cyclins that are protooncogenes |
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Definition
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Term
| p53 tumor suppressor gene |
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Definition
encodes for a protein that acts as a transcription factor that represses or stimulates transcription of more than 50 different genes
Cells that lack p53 are unable to arrest the cell at specific points in the cell cycle.
Bound to MDM2 |
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Term
| mutation of the RB1 tumor suppressor gene |
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Definition
| contributes to the development of many cancers |
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Term
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Definition
| a mutated RB1 allele is inherited |
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Term
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Definition
| requires two independent mutations of RB1 within the same cell |
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Term
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Definition
| a tumor suppressor protein that controls the G1/S cell cycle checkpoint |
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Term
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Definition
| enzymes that break down protein? are present at high levels in malignant tumors |
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Term
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Definition
| regulatory molecules that control proteolytic enzymes |
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Term
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Definition
| a genetic predisposition to colon cancer. Individuals inherit just one mutant copy of the APC gene |
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Term
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Definition
| viruses that cause cancer |
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Term
| Acute transforming retroviruses |
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Definition
| viruses that cause cancer in animals by transforming normal cells into cancer cells |
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Term
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Definition
| any substance or event that damages DNA |
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Term
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Definition
| all the alleles present in the population |
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Term
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Definition
describes what happens to alleles and genotypes in an "ideal" population that is infinitely large with random mating.
Assumes:
there is no selection
no new alleles arise from mutation
there is no migration into or out of the population
the population is infinitely large
random mating occurs
Predicts that the frequency of alleles in the gene pool doesn't change over time (they remain constant) |
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Term
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Definition
p^2 + 2pq + q^2 = 1
where p is the frequency of A and q is the frequency of a |
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Term
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Definition
codes for the CCR5 protein that is a receptor for HIV. The mutant version is nonfunctional and so individuals will not get HIV because it won't have anything to bind to
Normal allele: CCR5-1
Mutant allele: CCR5-32
So if an individual is homozygous for CCR5-1, they are susceptible to HIV
If they are heterozygous, they are susceptible but may progress to AIDS slowly
If they are homozygous to CCR5-32, they're in the clear!! |
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Term
| Hardy-Weinberg for X-linked traits |
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Definition
the frequency of X-linked alleles in the the gene pool is equal to the frequency of males expressing the X-linked trait
For females, the allele will be q^2 instead of q |
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Term
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Definition
| causes allele frequencies to change from one generation to the next |
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Term
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Definition
| An individual's genetic contribution to future generations |
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Term
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Definition
| geneotype that represents a phenotypic extreme is selected and this shifts the population mean towards it |
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Term
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Definition
| the intermediate types are preferred over extremes |
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Term
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Definition
| extremes are preferred over intermediate types |
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Term
| How are new alleles created? |
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Definition
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Term
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Definition
| the frequency at which mutations take place |
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Term
| Migration and gene flow alter allele frequencies, not mutations |
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Definition
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Term
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Definition
| occurs when the number of reproducing individuals in a population is too small to ensure that all the alleles in the gene pool will be passed on to the next generation in their existing frequencies so the genes "drift away" |
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Term
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Definition
| the genetic consequences seen when a population originates from a small number of individuals. |
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Term
| Nonrandom Mating Changes Genotype Frequency but Not Allele Frequency |
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Definition
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Term
| positive assortive mating |
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Definition
| genotypes are more likely to mate than dissimilar ones |
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Term
| negative assortive mating |
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Definition
| which dissimilar genotypes are more likely to mate than similar ones |
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Term
| Coefficient of inbreeding |
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Definition
| give the probability that two alleles of a given gene in an individual are identical because they are descended from the same single copy of the allele in an ancestor. |
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Term
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Definition
| inbred populations have a lowered mean fitness |
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Term
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Definition
| a stable, and heritable phenotype that results from changes in gene expression without alterations in the DNA sequence |
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Term
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Definition
| by the cell and that stimulate a response via an intracellular pathway |
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Term
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Definition
| Responses to epigenator signals |
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Term
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Definition
| maintains epigentic modifications |
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Term
| Methylation of DNA is one major epigenetic mechanism |
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Definition
adds methyl groups to CpG islands which will block transcription because the islands are located near the promoter
Mostly found in repetitive DNA |
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Term
| Histone modification is another major epigenetic mechanism |
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Definition
Occurs at the N-terminus site of amino acids
Includes methylation, acetylation, and phosphorylation
Can either make genes transcribable or not depending on the structure of the histone after it is modified |
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Term
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Definition
| makes genes available for DNA by adding acetyl group to histones which opens up the chromatin structure |
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Term
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Definition
| does the opposite of hat, like the exact opposite....will deacetylize which closes the configuration. also adds methyl groups to DNA |
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Term
| RNA interference is the last major epigenetic mechanism |
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Definition
siRNAs interfere with transcription initiation by associationg with protein complexes to form RISCs which blocks the promoter region?
sRNAs bind with protein complexes to form RITS which forms heterochromatin |
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Term
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Definition
| show expression of only the maternal allele or the paternal allele |
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Term
| DNA hypomethylation reverses the inactivation of genes, leading to unrestricted transcription of many gene sets including oncogenes |
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Definition
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