Biology 243 Summary Notes

Themes 1 and 2
Evolution: A Brief History Jean-Baptiste Lamarck o Believed that species changed over time o Lamarckism Acquired traits can be inherited Thomas Malthus o Principle of Populations human population can increase faster than food supply, and therefore this leads to competition and survival of the fittest Alfred Russell Wallace o Cam up with theory of natural selection independently of Darwin Charles Darwin o Voyage of the Beagle Described and collected plant and animal specimens and found interesting patterns regarding distribution of species o The Origin of Species Provides evidence for the evolution of species Idea of descent with modification Describes natural selection as the mechanism for evolutionary change o The Galapagos Islands Endemics Animals live there that are found nowhere else on earth Limited gene flow between islands and mainland Darwins 4 Postulates for Evolution via Natural Selection o Individuals VARY o More offspring are produced than can survive and/or reproduce o Survival and reproduction is not random o Some variation is passed to offspring (Heritable) Evolution o A change in the frequency of an allele o Evolution can occur quickly enough to observe within a matter of seasons o Evolutionary change can be very small scale

Theme 3 Topic 1 DNA as an Information Molecule

Genotype Entire DNA sequence (genome) that is inherited from parents to progeny and contains all the biological information needed to build and maintain a living organism The full set of genes inherited by an organism Turning on genes produces RNA and proteins

Phenotype: body plan, behaviour, metabolism, & much more Proteins determine phenotype, as proteins ultimately control every reaction in the cell o Enzymes, structural proteins, signalling proteins, etc.

Establishing DNA as the Hereditary Molecule Griffith Transformation Principle o The conversion of a cells hereditary makeup by the uptake of DNA from another cell o Injected mice with the bacteria to understand how infection takes place Avery et al. Identifying the Chemical Nature of the Transformation Principle o Determined whether it was DNA, RNA, or protein that allowed for transformation principle to take place o Found that DNA was the transformation molecule Hershey and Chase The Blender Experiment o Determined that the nature of genetic material in the bacteriophages was DNA, not proteins o Tagged bacteriophage DNA and proteins with radioactive isotopes 32P and 35S respectively

Topic 2 Structure of DNA

Components of DNA DNA consists of equal parts of o Pentose Sugar (Ribose for RNA, Deoxyribose for DNA) o Phosphate o Nitrogenous Bases

Purines
Guanine Adenine
-

Pyrimidine s
Uracil Thymine

Cytosine

Pentose Sugars o Carbon atoms are labeled for orientation o Absence of the 2 hydroxyl group in deoxyribose increases mechanical flexibility in DNA compared to RNA
5 5

HOCH2
4C

O H C3 OH H C2 OH

OH C1 H

HOCH2
4C

O H C3 OH H C2 H

OH C1 H

Ribose (RNA)
-

2-Deoxyribose (DNA)

Deoxynucleotides (dNTPs) are the building blocks of DNA They form by the removal of water

Polynucleotides The polymerization of nucleotide monomers Covalent bonds form phosphodiester back bone Polynucleotide has directionality and polarity Type of nucleic acid depends on sugar (DNA = deoxyribose, RNA = ribose) present Upstream = towards 5 PO43- end Downstream = towards 3 OH- end Synthesized in 5 to 3 direction

Chargaffs Rule

%A = %T and %C = %G
States % purines = % pyrimidines Franklins X-Ray Diffraction Revealed the structure of DNA Significant patterns in arrangement of atoms viewed in repeating intervals It was discovered that DNA was cylindrical, and ultimately helical

Watson and Crick Created a scale model of DNA Two sugar-phosphate backbones running antiparallel to one another They discovered the backbone to be hydrophilic, and the bases to be hydrophobic Purines always paired with pyrimidines complimentary base pairing o Purine-purine base pairing is too wide o Pyrimidine-pyrimidine base pairing is too narrow Hydrogen bonds hold the nucleotides and the two strands together

Watson and Crick decided that genetic information must be coded in the nucleotide sequences of DNA

Watson and Cricks Model of DNA Replication Parental strands act as templates for replication through complimentary base pairing Parental strands unwind by breaking hydrogen bonds Semiconservative replication where new double helix contains one parental and one newly synthesized strand

DNA Organization Can be circular or linear Prokaryotes o Typically have one chromosome (usually circular) o Also have other small independent circular DNA called plasmids in the cytoplasm Eukaryotes o Linear and enclosed in nucleotides o Compacted in DNA to fit in cell nucleus o Chromosomal structure protects DNA from damage o Chromosomes can easily be separated during cell division

Essential Components of Eukaryotic Chromosomes 1) Origin of Replication o The attraction of multiple proteins to initiate DNA replication 2) Centromere o DNA sequences required for correct segregation of chromosomes after DNA replication 3) Telomeres o DNA sequences located at the ends of the chromosome that attracted proteins preventing degradation and allow for proper replication of chromosomal ends Histones Positively charged proteins that DNA wind around Histone H1: Binds DNA to nucleosomes to form chromatin fibre Prokaryotes DO NOT have histones since bacterial chromosomes need not be compacted

Chromatin Heterochromatin o Regions of higher DNA compaction o Where transcription is turned off o Found in telomeres and centromeres o Barr Body an X chromosome becomes inactive by the block of heterochromatin Euchromatin o Regions of less DNA compaction o High levels of gene expression

Note: More complex organisms typically have lower gene density an organisms complexity is not directly proportional to genome size

Topic 3 DNA Replication

Three Putative Models of DNA Replication 1) Semiconservative Complimentary base pairing allows for parental strands to act as templates for replication Parental strands unwind through breaking of H-bonds 2) Conservative After replication, both daughter strands pair up 3) Dispersion Daughter strands will have a mixture of parental and newly-synthesized DNA

Meselson and Stahl Experiment Distinguished between old and new DNA to determine how replication occurred DNA labelled with isotopes 15N and 14N and isotopes incorporated into DNA molecules via nitrogenous bases Tracking of parental and newly synthesized DNA strands over many generations analyzed Discovered that semiconservative model was correct

DNA Polymerases Synthesizes the new strand in the 5-3 direction, with new nucleotides added to the new strand at the 3 OH end Requires an RNA primer to begin synthesis Contains a single active site that can catalyze four different reactions and requires optimum confirmation of site for incoming nucleotide to add to correct base pair

DNA Replication in Prokaryotes 1) Initiation Unwinding and separation of the two template DNA strands, forming two replication forks 2) Elongation Simultaneous synthesis of the two new DNA strands from the template strands by DNA polymerase 3) Termination When forks meet at opposite side of circular DNA, replication stops and protein complex of DNA polymerase drops off from DNA

Replication Forks One strand continuously synthesized (leading strand) Other strand synthesized discontinuously (lagging strand) The small fragments (Okazaki fragments) are linked together

DNA Replication Enzymes The Replisome is the complex of enzymes that replicate DNA

Enzyme Helicase Primase Single-Strand Binding Protein DNA Topoisomerase/Gyrase DNA Polymerase III DNA Polymerase I DNA Ligase

Function Unwinds the double helix by breaking hydrogen bonds Synthesizes RNA primers for DNA polymerase Stabilizes ssDNA before replication by preventing reannealing so that the strands can serve as template Removes super coils that form ahead of the replication fork, relieves torque/tension of mainly circular DNA Synthesizes DNA by adding nucleotides to the new DNA strand Removes RNA primer and fills the gaps with DNA Joins the ends of DNA segments by forming phosphodiester bonds

DNA Replication Steps 1) Helicase unwinds the DNA and Primase synthesizes RNA primers

2) RNA primers used as starting points for addition of nucleotides by DNA Polymerase

3) DNA unwinding, leading strand synthesized continuously, lagging strand discontinuously

4) DNA Polymerase I removes RNA prime r, replaces with DNA, leaving a nick

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5) DNA Ligase closes the nick

6) DNA continues to unwind and synthesis cycle repeats

Plasmid Replication Occurs by the process of rolling circle replication Fertility plasmids contain genes for conjugation

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DNA Replication in Eukaryotes There are multiple origins along chromosomes so DNA replication can be completed in time during S phase End Replication Problem o When RNA primer is removed, DNA Polymerase I can elongate 3 end of Okazaki fragment o At the very end of chromosome, no such fragment is present on 3 end o Therefore there is additive loss at chromosomal ends after each replication o Genes can become deleted leading to organismal death o Telomeres solve this problem

Telomeres Genes protected by a buffer of non-coding DNA added to the 3 end of chromosomes by Telomerase Telomerase adds additional telomere repeats to the end of the template strand prior to replication Approximately 10000 bp long Can be worn away after each replication, and when completely gone, cell stops dividing

Proofreading Activities of DNA Polymerases 3 exonuclease activity to remove the most recent mismatched nucleotides

Photoreactivation: repair of UV-Induced DNA Damage DNA absorbs photonic energy resulting in fusing of adjacent thymines Photolyase recognizes this and uses light energy to separate the fused thymines (photoreactivation)

Topic 4 Central Dogma

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Central Dogma: The universal flow from DNA to protein in order to convert genotype to phenotype Gene The basic physical and functional unit of heredity Made up of DNA and act as instruction to make proteins Genes encode for: o Coding RNA (mRNA): codes for a protein o Noncoding RNA (tRNA, rRNA, snRNA, microRNA): does not code for a protein

Beadle and Tatum Hypothesized that genes encode enzymes that function at each step of a biochemical pathway needed to make an essential nutrient Believed that mutating a gene that coded for an enzyme would interrupt metabolic pathway and the organism would no longer be able to synthesize needed nutrient They showed the direct relationship between gene and enzyme

The Genetic Code Nonsense/Stop Codons o Three codons that do not specify amino acids Redundnacy/Degeneracy o Synonyms for same amino acid There are no commas in the genetic code, and therefore there is only one correct reading frame
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Topic 5 Transcription
Transcription in Prokaryotes 1) Initiation RNA Polymerase binds to promoter DNA unwound freeing the template strand (transcription bubble) Ribonucleotides added de novo 2) Elongation RNA Polymerase moves along template DNA unwinding DNA in front, and reannealing DNA behind 3) Termination Sequences located at the 3 end of the new RNA molecule causes dissociation of the RNA and RNA polymerase from DNA template RNA Polymerase Binds to promoter region to initiate transcription Does not need a primer Unwinds and rewinds DNA helix during RNA synthesis The promoter specifies where the RNA Polymerase will begin transcription

Prokaryotic Promoter Located immediately upstream (towards 5) of transcriptional start point (+1) A specialized DNA sequence where transcription determines which gene is turned on or off

Promoter strength determines how well the RNA polymerase binds and initiates transcription

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Pribnow Box - The sequence TATAAT and serves as the location of transcription initiation Prokaryotic Elongation RNA is created in the 5 to 3 direction Uses the 3 to 5 DNA strand as a template RNA Polymerase breaks the complimentary base pairs by breaking hydrogen bonds Behind the enzyme, DNA strands reforms a double helix Transcription continues until the end of the gene Another RNA polymerase can start creating another RNA transcript as soon as there is room at the promoter

Prokaryotic Termination The completed RNA molecule is released from template DNA Double helix of DNA reforms In prokaryotes, transcription is terminated in two ways: o Rho-Independent Termination Terminator sequence in mRNA base pairs with itself to form GC hairpin Causes RNA polymerase to stall and dissociate o Rho-Dependent Termination Terminator sequence in mRNA is recognized and bound to the Rho helicase which unwinds the RNA from the template DNA and RNA polymerase

Features of the Prokaryotic Gene Operon o Cluster of prokaryotic genes and the DNA sequences involved in their regulation Promoter o Transcription initiation

Note: Prokaryotic mRNA is polycistronic a single mRNA encodes for multiple peptides usually involved in the same function

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Comparing RNA Transcription and DNA Replication

Transcription in Eukaryotes Three types of RNA polymerases I, II, III which make rRNA, mRNA, and tRNA respectively Several general transcription factors (GTFs) are necessary to recruit RNA polymerase to the promoter mRNA termination mediated by a polyadenylation signal Eukaryotic mRNA is monocistronic

Eukaryotic Initiation RNA pol I and III non-protein coding genes RNA pol II protein-coding genes RNA pol does not recognize promoter A key element in protein-coding genes = TATA Box Transcription factors recognize and bind to TATA Box RNA pol II recognizes multiRegulatory protein complex and bind to it

Gene(s)

Promoter DNA TATA Box

Transcription Unit

Exon Intron Exon Intron Exon 5 UTR 3 UTR

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Transcription initiation mediated by binding of DNA-binding proteins to specific regions on gene General Transcription Factors bind to promoter and recruit RNA polymerase II for initiation (basal transcription) TFI

TFIID, A, B, F, E, H (GTFs) and RNA Pol II

Activator Transcription Factors bind to promoter proximal regions and enhancer regions to cause o Enhancer binding proteins increase transcription rate by stimulating initiation of RNA polymerase o Enhancers and associated proteins are brought close to the promoter by DNA looping

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Chromatin Remodelling During Initiation Transcription initiation inhibited by dense arrays of nucleosomes Access of promoter to RNA polymerase and GTFs requires reorganization of nucleosomes Activator proteins displace nucleosomes from promoter regions Activator proteins recruit histone acetyltransferase that add acetyl groups to histones loosening DNA binding

mRNA Processing in Eukaryotes Precursor-mRNA contains transcribed introns and exons Pre-mRNA undergoes processing in the nucleus to produce mature translatable mRNA A 5 Cap (modified guanosine triphosphate) added by a capping enzyme following transcription initiation o Functions as a binding site during translation Transcription termination controlled by a polyadenylation signal in the 3 sequence o Protects mRNA from RNA digesting enzymes

Eukaryotic Transcriptional Termination slide 34 in T3T5 Termination is linked to polyadenylation CPSF (Cleavage and Polyadenylation Specificity Factor) cleaves mRNA after transcription passes the poly-A signal The poly-A tail is added to the 3 end of mRNA by poly-A polymerase

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mRNA Splicing: pre-mRNA to RNA pre-mRNA contains exons and introns (exons being coding segments, introns being noncoding segments) Introns are removed from the pre-mRNA and exons spliced together to form mature mRNA

Splicing is carried out by the spliceosome which is made up of non-coding mRNAs called snRNPs or Small Ribonucleoprotein Particles After introns are removed, they are degraded and snRNPs are free to be reused

Alternative mRNA Splicing Joining different exons can amount to different protein diversity Several related protein products (isoforms) or the same mRNA molecule can be formed by making different combination of mRNAs Alternative splicing dramatically increases the number and variety of proteins that can be encoded by the genome The most highly expressed genes had only SHORT INTRONS
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Transcriptional and Posttranscriptional Regulation in Eukaryotes 5 cap, 3 polyadenylation tail, splicing, and microRNAs Half-life of mRNA can vary significantly and depends upon regulation of mRNA after transcription Removal of the poly-A tail or 5 cap results in mRNA degradation by exoribonucleases MicroRNAs as a regulator: o Noncoding RNA located within genes are transcribed by RNA polymerase II o Hairpin miRNA cleaved to 21-23 bp by Dicer Rnase o Silencing RNAs (siRNAs) are unwound and one of the strands functions as a template in RISC (RNA induced silencing complex) to guide cleavage of complimentary mRNA and inhibit translation

Reverse Transcription Found in viruses with RNA genomes Even if viral genome is RNA, a DNA template must be made to produce mRNA

Topic 6 Translation
The Genetic Codes Consists of 64 sense codons and the amino acids specified by these codons Codons are written 5 to 3as they appear in the mRNA AUG (methionine) an initiation (start) codon UAA, UAG, UGA = termination codons and do not code for amino acids o The tRNA does not bind to these codons Codons are non-overlapping and contain no gaps

Amino Acids Contain an amino acid and carboxyl group bonded to a central carbon with a hydrogen and R functional group R group determines uniqueness of amino acid Amino acids joined together by a covalent peptide bond Polypeptides are chains of amino acids linked by peptide bonds Nonpolar amino acids (R groups contain CH2 or -CH3) Uncharged polar amino acids (R groups usually contain OH) Charged amino acids (R groups that contain acids/bases that can ionize) Aromatic amino acids (R groups contain benzene ring)

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The Ribosome A complex molecule made of rRNA molecules form a factor for protein synthesis in cells Composed of two subunits o Large 50S subunit o Small 30S subunit Each subunit exists separately in the cytoplasm, but the two join together on the mRNA molecule The ribosomal subunits contain proteins and specialized RNA molecules ribosomal rRNA and transfer RNA (tRNA)

3 binding sites (A, P, E) o Aminoacyl (A) site: binds to aminoacyl-tRNA o Peptidyl (P) site: for the aminoacyl-tRNA carrying the growing polypeptide chain o Exit (E) site

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tRNA Molecules tRNAs bring amino acids to the ribosome o Small RNAs (75-90 nucleotides) o Act as an adaptor between codons and amino acids Aminoacyl-tRNA (charging): tRNA + amino acid o Aminoacyl-tRNA synthetase adds correct amino acid to the acceptor stem of correct tRNA tRNA and the Wobble Effect o The complete set of 61 codons can be read by FEWER than 61 tRNAs o This is because of the pairing properties in the bases of anticodons o Pairing of anticodon with first 2 nucleotides is precise, but the third has more flexibility o Third position can wobble

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Phases of Translation The beginning of mRNA is not translated during initiation Untranslated region (UTR) is located between the first nucleotide that is transcribed and one before the start codon (AUG) region o Does not affect the sequence of amino acids in a protein

Initiation 5 UTR contains the ribosomal binding site Initiation occurs with the interaction of certain key proteins of 5 cap Small ribosomal subunit binds to 5 UTR Methionine charged tRNA binds to the AUG start codon, completing the initiation complex Large ribosomal subunit joins initiation complex Met-tRNA now occupies P site establishing the reading frame

Elongation Elongation factor G - a protein that allows the ribosome to move along mRNA in the 5 to 3 direction (translocation) The tRNA for second codon can then bind to the A site tRNA molecule enters E site and is released into cytoplasm to pick up another amino acid

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Termination Termination codons are not recognized by tRNAs In place of a tRNA, a termination factor binds and facilitates release of mRNA from the ribosome and causes the separation of the ribosome

Post-translational Modification of Polypeptides Eukaryotic proteins inactive when released from ribosome Post-translational modification is necessary protein biosynthesis Enzymes may remove amino acids from the amino end of the protein Methionine is usually taken off during post-translational modification

Topics 7 & 8 Changes in DNA Sequences and Spontaneous Mutations

Mutation: A change in the physics structure or in the nucleic acid sequence, resulting in an error in the transmission of genetic information Occurs in DNA and RNA Occurs in somatic or germ line cells Can result in change to the amino acid sequence resulting in phenotypic variation Effects can be neutral, deleterious, or beneficial

Types of Mutations Somatic: o Occur in any of the body cells except gamete cells o Therefore, these mutations are NOT heritable Germ Line: o These types of mutations are of evolutionary significance o Mutation is the only process that is both necessary for evolution and sufficient by itself to cause evolution Small Scale locus specific o Point mutations (missense, nonsense, silent) o Insertions/deletions (frameshift) Large Scale - chromosomal o Gene duplications/deletions o Translocations/inversions

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Point Mutations Substitution of a single pair of nucleotide bases with another pair Substitution of purine for purine or pyrimidine for pyrimidine is 2x as common as a pyrimidine for purine substitution Can have discrete effects on the amino acid sequence o Missense codes for different amino acid o Nonsense new codon is a STOP codon causing premature termination o Silent (Synonymous) no change in amino acid sequence

Insertion/Deletion/Frameshift A shift in reading frame, affecting translation of other codons in coding DNA

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Large Scale Mutations Chromosomal Duplication/Deletion

Entire chromosomes can also change An individual with an abnormal set of chromosomes is an aneuploid Aneuploidy occurs mainly through non-disjunction o ex) Downs Syndrome (trisomy 21)

Copy Number Variation (CNV) Large regions of the genome that have been deleted or duplicated Variation accounts for ~12% of human genomic DNA

Spontaneous Mutations (Natural) Naturally occurring as a result of errors in DNA replication o ex) Deamination and depurination of nitrogenous bases Slippage Mutations o Causes an increase and decrease in the number of sequences o Common in repetitive sequences of DNA Microsatellites o Short tandem repeats (STR) of DNA o Mutations can lead to a new number of repeats (due to replication slippage, and thus new alleles) Spontaneous mutation rates vary with organism, and with tissue type in organism
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Induced Mutations Mutagens o Induce mutations by replacing a base o Alters a base causing a mispair with another base o Damages bases so no pairing is possible Base Analogs o Mimic bases and incorporates into DNA (can cause mispairing during DNA replication) Chemicals that alter base structure Damage to bases through UV radiation exposure

Note: Not all types of mutations occur with equal probability and therefore are not truly random occur randomly with respect to whether their effects are beneficial or deleterious RNA Mutations Very high rates of mutations in RNA viruses Viral RNA polymerases lack proof-reading ability of DNA polymerases

Mutant Alleles Wild Type Allele o Normal form of the gene found in nature of the standard laboratory strains of a model organism Amorphs/Null Alleles o No gene function, usually entire gene is deleted (recessive mutation) Hypomorphs o Reduced gene function relative to wild type (recessive mutation in gene that partially affects gene function) Hypermorphs o Enhanced gene function relative to wild type (dominant gain-of-function mutation)

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Topic 9 Inheritance
Cell Division in Prokaryotes Binary Fission o Prokaryotes undergo a cycle of cytoplasmic growth, DNA replication, and cell division o Replication begins at ori o Replicated origins migrate to ends of poles o Inward growth of plasma membrane and partition assembly of new cell wall, dividing replicated DNA producing two daughter cells o Effective method since only one chromosome

Eukaryotic Cell Cycle Interphase Gap 0 (G0) Phase o A resting phase where the cell has left the cycle and has stopped dividing Gap 1 (G1) Phase o Initial period of cytoplasmic growth o Synthesis of enzymes required for S phase, mainly those needed for DNA replication and structural proteins Synthesis (S) Phase o Rapid duplication of DNA and chromosomal proteins Gap 2 (G2) Phase o Period of cell growth o End of G2 signifies the end of interphase G2/M Checkpoint o A DNA damage checkpoint o An arrest of the cell in G2 prior to mitotic entry in response to genotoxic stress such as: UV radiation Oxidative stress DNA intercalating agents

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Mitosis Prophase o Chromatin condenses into chromosome o Nucleolus disappears RNA synthesis ENDS o Chromosomes bounds together at centromere o Centrosomes nucleate microtubules to form spindle by polymerizing tubulin o Molecular motor proteins push centrosomes to create spindle poles Prometaphase o Nuclear membrane breakdown o Spindle microtubules have direct access to chromosomes o Each kinetochore of sister chromatids attached to spindle microtubules o Chromosomes move to equator of cell o Microtubules connect to each chromosome at its kinetochore, a complex of proteins positioned at the centromere Metaphase o Chromosomes align along cell equator o Kinetochore microtubules attach the chromosomes to the spindle pole Anaphase o Sister chromatids separate, moving to opposite poles becoming independent chromosomes o Enzymatic breakdown of cohesin linked the sister chromatids together during prophase o Chromosomes walk themselves along stationary microtubules, using motor proteins in their kinetochores Telophase o Chromosome arrive at poles o Mitotic spindle disassembles o Formation of new nuclear membrane around each group of chromosomes Cytokinesis o Physical process that splits the parent cell into two identical daughter cells with cytoplasm dividing by furrowing o Cell membrane pinches in at the cell equator, forming cleavage furrow o Position of furrow dependant on position of astral and interpolar microtubules
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Regulation of the Eukaryotic Cell Cycle G1/S Control Point o Initiation of DNA synthesis G2/M Control Point o Regulation of mitotic entry Progression past these points depends upon activation of CDK (cyclic dependent kinase) bound to its regulatory cyclin subunit prompting cell to proceed into next cell cycle phase o CDK allows cycle to proceed past control points, telling cell to proceed to next step of cell cycle Cyclins are expressed in specific phases of the cell cycle which determines when a CDK is active Cell Size Checkpoint o Must attain a certain size at START, and G2/M checkpoints o The cells must be twice as big as daughter cells at G2/M checkpoint

Mother cell (larger) G1 Budding yeast

START

Daughter cell spends a longer time in G1 phase as it must take more time to grow

START

G1 Daughter cell (smaller)

When Cell Cycle Regulation Goes Wrong Cancer o Uncontrolled cell division o Altered expression of multiple genes due to mutations Oncogenes o Positive regulators (gain of function) in the cell cycle Tumor Suppressor Genes o Loss of function at checkpoint genes o Mutation prevents there from being division regulation

These mutated genes implicate cancer

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Cell Division Senescence (When cells become very old) Infinite division of cells impossible o Due to damage, defective telomeres, etc. Genes affecting cellular again we first found to be tumor supressors Division arrest followed by either Genetic recombination o Apoptosis (cell suicide) o Senescence (stopping cell division)

Genetic Recombination At the level of population, variation is necessary for evolution by natural selection Ultimate source of variation is mutation Diversity increases through genetic recombination

Asexual - Offspring are clones of parents - Inheritance of ALL parental genes in offspring - Transformation/transduction provide addition of sources of DNA for recombination

Sexual - Gametic union - Dependant on meiosis - Inheritance of alleles from each parent - Offspring not likely to be like parent/sibling

Genetic Recombination in Bacteria F-factor and conjugation bridge necessary for genetic material transfer Bacterial conjugation is equivalent of mating as genetic material is exchanged Bacteria have a conjugative plasmid integrated into genomic DNA called F-factor o Attempts to transfer entire DNA through the mating bridge o Since F-factor transfers itself during conjugation, the rest of genome is dragged along with it

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F+ cell
F+ and F- cell differ in alleles o F+ = a+, b+, c+, d+ o F- = a-, b-, c-, dRecombination occurs between donor chromosome and recipients chromosome Crossover produces a b+ recombinant (F-: a-, b+, c-, d-)

F- cell

Strategic Sex Evolution of recombination had to have happened in presence of asexuals Sex is expensive o Cost of finding a mate o Ecological o Mechanical

Comparing Mitosis and Meiosis

Mitosis

Meiosis

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Fertilization (aka Syngamy) Haploid gametes come together to create a diploid zygote through fusion Resulting in a zygote with a maternal and paternal cell

Introduction to Meiosis Reduction Division (Meiosis I) Equational Division (Meiosis II) G1, S, G2 and M still occur DNA replicated in S phase o Each chromosome copied (now there is a pair of sister chromatids refer to diagram)

Meiosis 1 Prophase 1 o Synapsis occurs (homologous chromosomes pair up) o Chromosomes have sequences that act as signals for pairing and alignment o Fully paired chromosomes are called tetrads when there are four chromatids together o Holliday Junctions Important in maintaining genomic integrity (faithful replication) Promotion of crossing over at the junction o Genetic recombination/crossing over physical exchange mixing alleles of the homologous chromosomes Occurs between any two chromatids in tetrad structure Visualized in structures called chiasmata Cells not forming chiasmata may cause aneuploidy in gametes Recombination results in different allele combinations Prometaphase I o Nuclear envelope breaks down spindles enter Metaphase/Anaphase I o Alignment of tetrads and separation of chromosomes of each homologous pair

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Telophase I and Interkinesis o No synthesis, reassembly of microtubules for 2nd division

Meiosis II There is no preceding S phase so meiosis II is not exactly like mitosis o Chromosomal behaviour is however like mitosis

How Germ Cells are Affected by Environment Male germ cells o Meiosis occurs after puberty o Mutation rates are higher in males due to the meiotic rate Female germ cells o Meiosis occurs within fetal ovary and all eggs are arrested in meiotic prophase until maturity

Nondisjunction Failure of homologous chromosomes to separate in meiosis I Failure of sister chromatids to separate in meiosis II Imbalance of chromosomes (aneuploidy) o Monosomy Loss of chromosome (2n-1) o Trisomy Gaining an extra chromosome

Meiosis and Diversity Variation increases chance that some offspring in a population have favorable combinations of alleles to survive Different combinations of maternal/paternal chromosomes during segregation o Random o Independent Assortment Spindle connections are random, not distinguishing between maternal and paternal chromosomes Each chromosome carries one recombinant and one nonrecombinant chromatid Random fertilization occurs between gametes providing multiple combinations of zygotes too
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Topic 10 Mendels Experiments, Genes, and Alleles

3 Hypotheses 1) All plants carry a pair of factors (genes) governing inheritance of a character 2) A pair of genes consists of different alleles, with one allele dominant over the other 3) Alleles that control a character separate as gametes separate Mendels Principle of Segregation Each organism is diploid: has two alleles Homozygous: two alleles are the same Heterozygous: two alleles are different Parental Cross: Cross of true breeding lines (homozygous) F1 Generation: First Filial Generation A recessive allele is only expressed if two copies of recessive allele is present

Things to ask Dr. Rogers: Is the polyadenylation signal only used during eukaryotic transcription?

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The difference between something being polycistronic and monocistronic, because the variation in the introns and exons cause a single mRNA molecule to code for different types of proteins but in that case is the mRNA still considered monocistronic?

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