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Genetics Test 3

TermDefinition
Genetic Code 20 amino acids formed out of combos of 4 nucleotides, 64 combinations (redundancy) , 61 code for amino acids, 3 code for stop
Stop Codons UGA, UAG, UAA
Coding Process RNA-like template > mRNA > polypeptide
tRNA Translates the mRNA into amino acid sequence using anticodons
What is primary structure of the amino acid sequence? Polypeptides
21st and 22nd Polypeptides Stop codons code for these in some other organisms, means the genetic code is not universal
Transcription DNA to mRNA, initiation, elongation, and termination
Transcription Initiation Promoters signal RNA polymerase where to begin transcription, in prokaryotes, sigma factors help and in eukaryotes transcription factors help
Transcription Elongation RNA polymerase catalyzes the synthesis of mRNA 5' to 3'
Transcription Termination Terminator sequences tell RNA polymerase where to stop
Downstream From the first letter on to the transcribed portion, positive numbers
Upstream Moves towards the promoters, negative numbers
Prokaryotes Transcription and Translation occur simultaneously
Eukaryotes Transcription happens in the nucleus and translation happens in the cytoplasm, transcription > RNA processing > Translation
Hairpin loop Made by the termination sequence, stops transcription
RNA Processing Only in eukaryotes, 5' methylated Guanine cap and 3' poly-A tail, both work to increase RNA stability, modified by enzymes, RNA splicing
RNA Splicing Removes introns that are found in the DNA but not in mature mRNA, removed by spliceosomes
Alternative Splicing Different mRNAs can be produced by one transcript
Transplicing Rare, multiple transcripts are used to form one mRNA
Translation mRNA translated by tRNA to polypeptides
Codon 3 base pair nucleotide sequence in mRNA
Anticodon 3 base pair nucleotide sequence in tRNA
tRNA Primary Structure: nucleotides Secondary Structure: attaches to amino acid at one end and anticodon at the other Amino acid and anticodon can be mismatched if treated chemically
Uncharged tRNA tRNA with no amino acid attached
rRNA Make up ribosomes, not translated just transcribed, bigger in eukaryotes
Ribosomes Complex structures of rRNA and protein
Prokaryotic Ribosomes 70s, 50s/30s, 16s nucleotides
Eukaryotic Ribosomes 80s, 60s/40s, 18s nucleotides
Ribosome Structure A (aminoacyl) site: where amino acid sits P site: where tRNA sits
Ribosome Process Slides along mRNA A site > P site > E site (exit), Stops when stop codon brings in a release factor and causes it to disassemble
Regulation Turning on or off, up or down, switch or dimmer, can occur at any point in the gene expression pathway (mostly at the very beginning of transcription)
Gene Regulation The level of gene expression can vary under different conditions
Constitutive Genes Nonregulated genes, constant levels of expression, normally encode proteins that are always required for survival
Benefit of Gene Regulation Conserving energy and not making proteins that are not always necessary
Regulator Proteins Repressors: bind to DNA and inhibit transcription (negative control) Activators: bind to DNA and increase transcription (positive control)
Small Effector Molecules Bind to the repressor/activator, can aid or inhibit activators and repressors
Inducers Aid activators in increasing transcription, work on inducible genes
Corepressors Aid repressors in decreasing transcription, works on repressible genes
Inhibitors Deactivate activators to decrease transcription, works on repressible genes
Operons A group of genes that has a single promoter and is regulated as a unit
lac Operon Processes lactose, three genes, E. coli is the example
Lactose Milk sugar, disaccharide composed of galactose and glucose
lacZ Encodes for beta-galactoside
lacY Encodes for Lactose permease
lacA Encodes for Galactoside transacetylase
Operators Where activators and repressors bind, RNA polymerase binds here, repressors bind to the operator and stops transcription when lactose is not present
Complexities of lac operon It is a continuum and it has three operator sites that bind in a loop to stop the RNA and it has Catabolite Activator Protein (CAP)
Catabolite Activator Protein (CAP) Regulates in response to the presence or absence or glucose, allows for preferential use of glucose, functions in a global regulatory network
trp Operon Involved in the synthesis of tryptophan, five genes
trpR Encodes the trp repressor protein, made inactive unless corepressor (activated by the presence of tryptophan) binds to it and stops the creation of tryptophan
Attenuation (Cutting Short) Transcription begins and is terminated before the entire mRNA sequence is made, uses translation to regulate transcription, leader sequence can regulate by shortening using the 3-4 loop which only forms under tryptophan levels
Catabolism Operons Generally inducible
Anabolism Operons Generally repressible
Translational Regulation Regulatory proteins and anti-sense RNA
Translation Regulatory Proteins Recognizes sequences in mRNA, inhibits translation, called translation repressors, binds next to or outside the Shine-Dalgarno sequence/start codon and prevents initiation
Antisense RNA An RNA strand that is complementary to the mRNA is synthesized, prevents initiation
Posttranslational Regulation Feedback inhibition and protein modification
Feedback Inhibition Common mechanism, inhibits an enzyme that acts early in the pathway, changes the active site so it can no longer bind
Protein Modification Some are irreversible: proteolyitc processing, attachment of prosthetic groups, sugars, and lipids Some are reversible: transiently affect protein function, add or remove a functional group
Riboswitches Discovered in 2001, converts RNA between its two secondary confirmations through the binding of small molecules
Purpose of Riboswitches Regulates 3 to 5% of bacterial genes, can regulate both transcription and translation, Gram negatives regulate at translation level and gram positives regulate at transcription level
How do eukaryotes benefit from gene regulation? Respond to changes in the environment and respond to stress
What is gene regulation necessary for? Accurate gene expression during various stages of development and differences among cell types
Transcription Factors Proteins that influence the ability of RNA polymerase to transcribe a given gene, has sequences called control elements/regulatory elements/regulator sequences
General Transcription Factors Required for the binding of RNA polymerase
Regulatory Transcription Factors Serve to regulate the transcription of target genes
Activators A regulatory protein that increases the rate of transcription (enhancer)
Repressor A regulatory protein that decreases the rate of transcription (silencer)
Domains Regions on transcription factor proteins that specific functions, one is for DNA binding and one is for binding to effector molecules
Motif Subset of a domain, helix-turn-helix, recognition, zinc finger, and leucine zipper
Modulation Types Binding a small effector molecule (hormone) Protein-protein interactions Covalent modification (phosphorylation)
Steroid Receptors Regulatory transcription factors that respond to steroid hormones, hormones that bind to the transcription factor
Chromatin Remodeling Dynamic changes in chromosome structure, ATP-dependent, carried out by diverse, multi=protein machines that change nucleosome positions, evict histones, and use histone variants to create special chromatin
Closed Confirmation Heterochromatin, tightly packed, transcription is difficult/impossible
Open Confirmation Euchromatin, loosely packed, transcription can occur
DNA Methylation A change in chromatin structure that silences gene expression, carried out by DNA methyltranferase, present in some but not all eukaryotes, increases transcription
Unmethylated No methylization
Hemimethylated One strand is methylated, the other isn't
Fully Methylated Both strands are methylated
Insulators Wrap around DNA strands, limit regulation to a particular gene, some act as barriers and some block enhancers
ENCODE project Encyclopedia of DNA Elements Consortium, isolate sequences in human RNA, identify transcription factor binding sites, map DNA methylation, identify histone modification, map DNase I cleavage sites
Epigenetics The study of mechanisms that lead to changes in gene expression without changing the DNA sequence, reversible and heritable
Epigenetic Inheritance Epigenetical changes passed from parent to offspring
Examples of Epigenetic Inheritance DNA Methylation Chromatin Remodeling Covalent Histone Modification Localization of Histone Variants Feedback
Development Series of stages where a fertilized egg becomes a mature adult, maintained by epigenetic mechanisms (genomic imprinting, x-chromosome inactivation, formation of specific cell types and tissues)
Environmental Agents Commonly cause epigenetic changes, flowering plants, mice expressing the Agouti gene based on diet, toxins and cancer
Mice Experiment Pregnant mice fed folic acid and vitamin B, increases DNA methylation and leads to darker fur
Toxins Turn on oncogenes which cause cancer, down-regulate tumor repressors
Alternative Splicing At RNA processing level, sometimes exons are removed and sometimes they are left in, means that multiple mature mRNAs can form from one RNA strand
RNA Stability Varies considerably, can be modified through the length of the poly-A tail and destablizing elements
RNA i (interferences) Discovered by Dr. Mello and Dr. Fire, double stranded RNA forms in the cell, RISC cuts it up and takes some antisense RNA to silence the gene, uses dicer, splicer
RNA Binding Proteins Inhibit the ability of ribosomes to initiate transcription
Viruses Nonliving particles with nucleic acids and genomes, have to infect cells to reproduce
Host Range The number of species a particular virus can infect
Structure of Viruses All have a nucleic acid genome (DNA or RNA) wrapped in a protein capsid, some have spike glycoproteins
Viral Envelope Derived from plasma membrane of host cell, some viruses have it
Genome Composition Can be DNA or RNA , single or double stranded, normally thousands of base pairs (which is small)
Helical Long tube structure
Polyhedral Multisided structure
Enveloped Has a viral envelope
Bacteriophage Spider-like shape with capsule containing viral genome
Viral Reproductive Cycle Series of steps that results in the production of viruses, attachment, entry, integration, synthesis of viral components, viral assembly, release
Attachment Virus attaches to the host cell
Entry Virus/viral genome enters the cell
Integration/Excision Does not occur in lytic cycle, viral genome integrates into the host genome
Synthesis of Viral Components Viral proteins and DNA/RNA is formed by the host cell
Viral Assembly Viral components assemble
Release Viruses are released from the host
Latent When viruses remain inactive and no new viruses are made, normally occurs during the lysogenic cycle
Lysogenic Cycle Viral DNA is incorporated into host chromosomes as a prophage and may be latent for many cell divisions
Lytic Cycle New virus particles are made
Temperate Phages Can undergo both lytic and lysogenic cycles, phage lambda is an example
Emerging Viruses Viruses that have risen recently and are more likely to cause infection than previous strains, Avian flu, COVID, Zika
Coronavirus Enveloped, single-stranded RNA genome, helical nucleocapsid, named for the crown of sparks on the surface, seven different coronaviruses affect humans (SARS, MERS, and COVID-19 are fatal)
Bacteriophage Virus that affects bacteria, lambda phage is a model
Lambda Phage Linear in the virus, circular in the cell, genome is organized in operons based on function
CII Protein Helps lambda transition between the lytic and lysogenic cycles, inhibits the lytic cycle, when conditions are favorable, the CII degrades and the virus switches from the lysogenic to the lytic cycle
HIV Causes AIDS, infects T cells inhibiting immunity, RNA genome, has three unique enzymes: integrase, reverse transcriptase, and HIV protease
Integrase Integrates into the host genome
Reverse Transcriptase Makes DNA out of RNA
HIV Protease Cuts out
HIV Progression 1. HIV enters host cell 2. DNA transcribed from RNA> reverse transcriptase 3. Integrase cuts host chromosome, integrates viral DNA, becomes latent (provirus) 4. Viral components form 5. Virion assembles 6. HIV protease cuts and helps assemble it
Mutation Heritable change in the genetic material sequence, creates allelic variation and helps species adapt, mutations are more often harmful than helpful
Chromosome Mutation Changes in chromosome structure
Genome Mutation Changes in chromosome number
Gene Mutations Small changes in DNA that affect a single gene
Point Mutation Change in a single base pair
Transition Change of C or T to an A or G
Transversion Change of a pyrimidine (C or T) to a purine (A or G), base substitution
Silent Mutation A base substitution that does not result in a different amino acid
Missense Mutation A base substitution that results in a different amino acid
Nonsense Mutation A base substitution that results in a early stop codon
Frameshift Addition/deletion of nonmultiple of three that changes the amino acid sequence
Reversion Mutations One mutation undoes another to return the gene to its wild type
Intergeneic Reversion Mutation Within the same gene
Intageneic Reversion Mutation Happens in a different gene
Random Nature of Mutations Mutations are random, experiment where identical colonies where treated and the ones with resistance had it before treatment
Spontaneous Mutations Internal, results from abnormalities in normal cellular/biological processes (errors in DNA replication)
Induced Mutations Result from changes outside the cell
Mutagens Agents that alter the structure of DNA and cause mutations, can cause cancer, can affect offspring
Chemical Mutagens Base modifiers, intercalating agents, and base analogues
Base Modifiers Covalently modify base structure or disrupt pairing
Intercalating Agents Directly interfer with replication
Base Analogues Incorporate into DNA and disrupt structure
Physical Mutagens Radiation can damage DNA, x-ray, gamma rays
Mutation Rate The likelihood that a gene will be altered by a new mutation. 10^5 to 10^9 per generation, humans have 100-200 new mutations per generation
Mutation Frequency The number of mutant genes divided by the number of genes in a population
Ames Test Test for whether or not something is a mutagen
DNA Repair Vital for the survival of all organisms 1. Detect structural irregularity 2. Abnormal DNA is removed 3. Normal DNA is synthesized
Genetic Recombination Involves chromosomes breaking and rejoining to form new combinations, creates allelic variation
Homologous Recombination Crossing over: occurs between homologous chromosomes, allelic variation Sister Chromatid Exchange (SCE): p roduces no allelic variation
Double Strand Break Mode 1. Strand breaks 2. Degerdation and D-loop forms 3. Gap repair 50% recombinance
Site-Specific Recombination 2 DNA segments (nonhomologous) align themselves at specific sites, used by viruses and mammals to produce antibodies
Transposition Integration of small segments of DNA into the chromosome, called transposable elements (jumping genes)
Simple/Conservative Transposition Cut and paste
Retrotransposition Copy and paste, increases the number, limited to eukaryotes, alu is an example
LINEs Long Interspersed Elements, 1000 to 10,000 bp, found a few thousand to several hundred times
SINEs Short Interspersed Elements, less than 500 bp, alu is an example
Created by: RoseGrace
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