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Cell/Molec Final Exam

AB
Amino acidsAn organic molecule with a carboxyl and an amino group. They are the monomers of polypeptides, which coil to form proteins. In translation, the mRNA information is turned into an amino acid sequence (built from the amino side to the carboxyl side of the AA)
CodonsmRNA nucleotide triplets. Usually one codon corresponds to one amino acid. Ex. AUG = Met (start codon)
AnticodonstRNA triplet sequences that correspond with codons on mRNA and bring the specific amino acid to the ribosome to the ribosome during translation. Ex. codon = AUU, anticodon = UAA
Start/stop sequenceThe AUG sequence is a start codon that signals the protein-synthesizing machinery to start translating mRNA at that location. The UGA/UAC/UAA sequence signals synthesis to stop
C/N terminusAn amino acid sequence is built from the N-terminus (the amino side of the AA) to the C terminus (the carboxyl side). The building of this sequence occurs during translation in the cytoplasm
Central dogma of molecular bioDNA codes for RNA which codes for proteins that impact an organisms phenotype
Where does TRANSCRIPTION occur and what does it do?In the nucleus in eukaryotes. In the cytoplasm for prokaryotes. It uses DNA as a pattern to make mRNA, which is a form of genetic code that exits the nucleus via the nuclear pores because DNA is too large to do so
Transcription step 1: Initiationa) Transcription factors attach to the promoter region (TATA box in eukaryotes) b) RNA polymerase II binds to transcription factors to form a transcription initiation complex c) DNA unwinds at the site of RNA poly II attachment
Promoter regionThe TATA box sequence serves as part of the promoter region in eukaryotes
TATA box sequenceDetermines which DNA strand will serve as a template. Different templates result in different RNA products and thus proteins. Serves as a promoter region in eukaryotes
Transcription step 2: ElongationRNA polymerase adds nucleotides to the 3' end, so new strands of mRNA are built 5' to 3'
Transcription step 3: TerminationIn PROKARYOTES, transcription ends when RNA polymerase reaches a terminator sequence (end product = mRNA). In EUKARYOTES, transcription ends when a polyadenylation sequence is encountered (end product = pre-mRNA)
Post-transcriptional modificationONLY in eukaryotes (occurs in nucleus). A methylated cap is added to the 5' end of pre-mRNA and a poly-A tail is added to the 3' end. RNA splicing is done by the splicesome enzyme to remove introns and piece together exons. After this, mRNA is no longer pre-mRNA, and it exits via nuclear pores
Where does TRANSLATION occur?In cytoplasm for both prokaryotes and eukaryotes. It uses GTP and is endergonic overall
Translation step 1: Initiationa) ribosome's small subunit is bound to initiator tRNA b) ribosome moves so tRNA can bind to AUG (start), and establishes a codon reading frame c) tRNA binds to the start codon d) large subunit of ribosome is added to form translation initiation complex
Codon reading frameHow the body determines which three nucleotides will be read as a single codon
Translation step 2: Elongationa) codons on mRNA are read by tRNA and tRNA moves from the A to P to E sites on ribosome b) tRNA adds one AA at a time c) the mRNA moves through the ribosome, 5' end first d) ribosome moves too (tRNA is released at the E site)
Translation step 3: Terminationa) mRNA reaches a stop codon (UUA/UUC/UUG) b) release factor binds to stop codon at A site c) water (not an AA) is added to the end of the polypeptide chain, which then exits through the exit tunnel on large subunit e) translation assembly is recycled
Post-translational modificationOccurs in eukaryotes and prokaryotes. Affects protein's secondary and tertiary structures. AAs removed off N terminus, cleavage/binding done to make quaternary structure, functional groups added
Fate of modified proteins?Modified proteins can chill in the cytoplasm or be tagged with signal peptides. Once tagged they can be sent to a specific place in the cell (via endomembrane) or exit the cell (via secretory system)
Point mutations: silentA silent mutation changes one nucleotide but wobble ensures that said change isn't shown in phenotype
Point mutations: missenseChanges one base pair in a way that changes an amino acid. Only mutation responsible for variations of a trait b/c it can be passed on
Point mutations: nonsenseResults in premature termination of protein sequence. This is the worst of the point mutations
Insertion/deletion mutationsAddition or subtraction of one or more nucleotides. Causes frameshift, the worst mutation of all, that throws off the codon reading frame
When are genes expressed?1. Durring development 2. New tissue production 3. Any time! Environmental changes or the presence of other organisms can cause gene expression
Why is gene expression modified?1. Life history/developmental stages 2. Specialization (in multicellular organisms) 3. Environmental changes (exogenous sex determination results in the temperature modifying gene expression)
How can gene activity be regulated?{1-6 for eukaryotes, 1/2 for prokaryotes} 1. Chromatin modification 2. Transcription 3. RNA processing 4. RNA degradation 5. Controlling Translation 6. Regulating activity of protiens
Gene regulation 1: Chromatin modificationOccurs in both proks/euks. Condensation makes DNA no longer expressed; genomic imprinting; epigenetic inheritance (methylation or changes in histone proteins)
Gene regulation 2: TranscriptionOccurs in both proks/euks. Affected by control elements (noncoding, and upstream, meaning near the 5' end) in genome that bind to transcription factors, which can be impacted by diet, drugs, hormones etc
Transcription factorsEnhancers, activators, repressors bind to sites within the promoter region during transcription and stimulate or turn off transcription
Gene regulation 3: RNA processingOnly in euks. Alternative RNA splicing can occur; results in interons and exons switching roles. It can be intentional or accidental. RNA sequences can also be blocked by siRNA or miRNA, which stop translation
Gene regulation 4: RNA degradationOnly in euks. mRNA breaks down, usually due to poly-A tail removal. Degradation speed impacts how quickly organisms can react to the environment. Prokaryotes dont have a poly-A tail but can break RNA down faster than euks
Gene regulation 5: Controlling translationOnly in euks. Initiation blocked (permanently or temporarily), usually by not making initiator tRNA. Also global control: all protein production turned on/off, usually by environmental cues
Gene regulation 6: Regulatory activity of proteinsOnly in euks. Post-translational modification. Selective degradation of proteins (this happens in Huntington's, when the vesicle can't fuse with lysosome so cell accumulates toxic waste)
Gene expressionCreates a connection between genotype and phenotype. The product of a protein coded for by a particular stretch of DNA. Most cells within an individual have the same genome, however, very few of these genes are expressed in any one cell. It can be modified and regulated. Consists of two steps: transcription and translation
Factors that help populations maintain allelic or genotypic diversity1. Diploidy 2. Disruptive selection 3. Heterosis 4. Frequency-dependent selection
DiploidyWhen an individual has two copies of each allele. Helps retain more polymorphism
HeterosisAka the heterozygote advantage. Heterozygotes have higher fitness than homozygotes
Disruptive selectionWhen selection favors 2 extremes rather than one intermediate trait. The two extremes are different so polymorphism is maintained
Frequency-dependent selectionWhen a more rare genotype is favored by selection. Ex: Mimicry - Mimicry only works when the mimicker is less frequent than the species that they are mimicking, ie. with milk snakes mimicking venomous coral snakes
PopulationA group of individuals of the same species in the same space/time that can interbreed
EvolutionOnly happens to populations; only acts upon phenotype; must happen over one or more generations
What are 5 forces that cause evolution?1. Mutations 2. Migration 3. Non-random mating 4. Natural selection 5. Genetic drift *[All decrease diversity except mutations and sometimes migration]
Evolutionary forces: MutationsMutations is the only one of the forces that only adds genetic diversity. Most mutations are bad/deleterious
Evolutionary forces: MigrationCan add diversity (if its coming in) or reduce diversity (if individuals are leaving)
Evolutionary forces: Non-random matingMeans that selection for a mate isn't based on chance. Can result in inbreeding/outbreeding depressions
Evolutionary forces: Natural selectionOnly way to directly increase fitness
Evolutionary forces: Genetic driftRandom loss of alleles from a population. 2 causes are founder effect and bottleneck effect
Inbreeding vs. outbreeding depressionInbreeding: fitness reduced because offspring are more likely to be homozygous. Outbreeding: fitness reduced because offspring not adapted to local environment due to very different adaptations of parents
Founder effect vs. bottleneck effectFounder effect: population started by small number of individuals; can cause frequency of harmful alleles to be higher. Bottleneck: a large population shrinks drastically, seen with endangered species
Gene flowThe transfer of alleles between populations, can be a source of new alleles but reduces genetic differences between pops over time
Genetically viable populationsThose with enough individuals to avoid inbreeding depression; evolve with environmental changes; and avoid expressing deleterious mutations
Demographically viable populationsThose that simply have high numbers
Endangered speciesAre at risk of extinction in the wild due to low N, low Ne and/or low genetic diversity
HIPPO: factors that may cause a species to become endangeredHabitat destruction; Invasive species: Population growth; Pollution; Overexploitation
All about ribosomesThey are made in the nucleolus and are exported from the nucleolus to the cytosol or rough ER. They have a large and small subunit with 3 tRNA binding sites, E, P, A
Goals of conservation genetics:1. Increase genetic diversity, heterozygosity, and rare genes 2. Improve zoo breeding programs (use genetics to determine mates that will produce heterozygous offspring) 3. Protect endangered species (using genetic analysis of meat or ivory to track trade and hunting of endangered species)
Genetic consequences of bottlenecks:Although N (pop numbers) can recover relatively quickly, it takes years for genetic diversity to recover (400+ years). This is because only mutations result in new variations of traits, and most of them are deleterious.
N vs NeN refers to the population size as a whole. Ne refers to the members of the population that are able to produce offspring (ie. Ne= the number of individuals who contribute to the next generation's gene pool). Sometimes individuals in a pop contribute to N but not Ne (too old/young to mate, sterile, etc)
CITES categories (from worst off to best off)E (extinct, not present on earth); EW (extinct in wild, still in zoos etc); CR (critically endangered); EN (endangered); VU (vulnerable); NT (near threatened); LC (least concern: no problems now/none anticipated)
Genetic erosionThe loss of diversity from a threatened or endangered population over time (extinction vortex describes how this happens and can doom a species)



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