BIO 319 Exam 1 Study Guide Lectures 1 10 Lecture 1 August 25th Gene Function Genotype information storage information transmittal accurate Phenotype gene expression gene products affecting phenotype Evolution changes in gene that allow us to adapt Gene Expression Gene Gene product RNA Protein function structure Genetics Methods Mutation changes a gene s function usually gene loses its function o Selection look for antibiotic resistance Recombination happens a lot Rearrangement of genome b w chromosomes in a cell o Example HIV o b w homologous same o b w heterologous different complementation make whole o 1 gene 1 complementation o Same complementation group cannot complement Because they have the same mutation o Complementation assay Minimum number of genes for phenotype Lecture 2 August 27th Complementation assays Whole group of mutants Cross each one with each other o Screen phenotype of progeny Gene structure unit nucleotide Base Sugar Phosphate Nucleic acid nucleotides linked together DNA RNA Draw Ribose and 2 Deoxy Draw and memorize cytosine guanine and adenine uracil thymine Nucleic acids connect nucleotide via a phosphate o 5 P attaches at 3 end o 5 3 3 5 is antiparallel DNA Double stranded Has thymine 2 deoxy Right handed Form B RNA Single stranded Has uracil 2 OH Form A Helics Lecture 3 august 29th DNA Supercoils In same direction as helix turns o supercoil Opposite direction of helix o supercoil DNA is under wound and is supercoil What hold the DNA together DNA stability Hydrophobic interactions o Hydrophobic bases stack on each other Increases entropy H2O is less ordered Reason water molecule orders itself around the hydrophobic molecules H bonds G has 3 bonds with C and A has 2 bonds with T U Melting Curve Identifies double and single strand of DNA and purifies DNA Tm temperature when DNA is single strand Tm depends upon GC GC bonds are more stable than AT U Melting Curve Renauration Curve Controls temperature to hybridize need to be below Tm Single strand DNA concentration pushes it forward T Time Co original concentration of DNA Time is being increases of concentration Renauration curve Eukaryotic DNA Highly repetitive high concentration Middle repetitive o tRNA mRNA actin o transposons mobile DNA Unique single copy o Least concentration Lecture 4 September 3rd Hybridization analysis Localize and identify DNA o Probe o Method of label is radioactivity and fluorescent o Assays Sample denature DNAs Incubate Visualize Probability given events total possible events o Example 40 green 7 red 3 blue o 7 50 probability of red Sum rule probability of one or another independent event sum of individual probability o Red or blue 7 50 3 50 10 50 Product rule probablility of multiple independent events happening at the same time o Multiple independent probability o Example R round pea r wrinkled Product of wrinkled 0 5 x 0 5 0 25 Conditional probability o Prob Of event prob hat condition is met o Example given the peas is round Prob it is a heterozygote 0 5 0 75 2 3 round pea Bionomial expansion s t n o P s t N events S events w prob P T events w prob q o Example prob of 5 girls and 1 boy 6 o P 0 55 x 0 51 0 09 9 5 1 p x q Lecture 5 September 5th Allele form of gene found in a population Diploids 2 alleles HLA A gene is on the same chromosomes as HLA B Example 0 5 chance of A2 B5 0 5 chance of A1 B5 o 0 5 0 5 0 5 0 5 1 16 chance that the children would have Extensions Mendelian genetics Dominant gene product masks the effect of recessive gene product o Example ear wax wet sticky is dominant to dry flaky o Product is transporter Ear was apocrine molecule for body order Autosomes chromosomes not sex chromosomes Somatic cells not germline gametogenesis o Example gene products encoding proteins Dominant negative mutation mutant protein interferes with f x of normal o Ex Hungtinton chorea caused by a gene huntingtin o Dominant gene are passed on germline Incomplete dominant o Heterozygous phenotype is between dominant recessive phenotype Ex Flowers RR red Rr Prink rr white Co dominance o Heterozygous shows both gene products Ex blood group AB AA BB A B are co dominance phenotype both dominant to O Sequtnetial dominance o Ex Peppered moth 3 alleles Color M M m M anything BLACK M m peppered Mm white gray Lecture 6 September 8th Dominance type depends upon level observed Ex sickle cell Organism level HbA is dom To HbS Cellular level HbA is incompletely dominant Molecular level HbA is co dominant w HbS Pleiotrophy one gene multiple effect Ear wax body oder HbA HbS resistance to malaria Lethals most often recessive Lethality recessive vertebra is incomplete dominant Pentetrance of individuals w genotype that show phenotype Retinoblastoma eye cancer Expressivity degree showing phenotype if have genotype Skin color Conditional mutations gene product acts differently under different environmental conditions Fur color Sex chromosomes Heterogametic sex o Mammals XY male o Birds ZW females o Bees Females are diploids Males are haploids Lecture 7 September 10th Dosage compensation Flies male double expression x gene Nemotodes XX reduces expression of both by half In most mammals female inactivates x early in development o Calico Cat XBXO XBXB XOXO orange black spots Tetis Determining factor TDF Encodes region SRY sex determining region Y Transcription factor for tetis development o Ex hairy ear trait on Y chromosomes Holandric Y encoded Hemizygous encoded on only one chromosome o Males are hemizygous for X Sex linked gene Founded on sex chromo On X o Red green color blindness Hemophilia poor blood clotting Male one X can be color blind shows phenotype But for female must be homozygous for gene to show its phenotype need to be on both Xs Female can be carrier Sex limited Phenotype only found in 1 sex o Example only females make ovaries Sex influenced Dominant or recessive of gene is sex dependent o Example scurs mini horns on cows Sc is dom In males Sc is recessive in females Male Female Sc Sc Horns Horns Sc Sc Horns No horns Sc Sc No horns No horns Epistasis Multiple genes single pheno o Complementary epistasis when all genes have to work together to give single phenol Duplicate epistasis Multiple copies same gene different loci o Example actin gene ribosomal protein gene NON Mendelian Inheritance Phenotype depends upon the origin mom dad of gene 3 types o Maternal effect o Epigenetic inheritance o Extra nuclear inheritance Maternal Effect Early in development zygote Non transcription going