BCOR notes from first half of semester
BCOR notes from first half of semester BCOR 012 (Biology- Alison Brody and Melissa Pespeni)
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BCOR 012 (Biology- Alison Brody and Melissa Pespeni)
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Date Created: 03/16/16
BCOR 012 0 Dr Alison Brody 205A MLS 2Kbrodyuvmedu 6560449 Hours MT from l2pm 0 Dr Melissa Pespeni 326A MLS mpespeni uvmedu 6260628 Hours MTh from 130230 Materials oLaunchpad oWriting in Biology oBio Lab manual 13 of nal on last quarter of semester material No calculators can be used on tests Lowest exam grade dropped Study guides will be on Blackboard before exams SI Instructor Keren M 530Jeff 112 W 630 Jeff 127 Tutoring km Williauvm edu 12016 Lecture Outline Brief history of Genetics Mende 18221884 published results of expts in 1866 0 Scienti c method new discovery Vbcab o Monohybrid cross 1St question on exam Who is the most important person to modern biology Chare5 Darwin Blending Inheritance offspring are intermediate between two parents traits If true we would all look similar Ch 8 Key Concepts 81 Genes are particulate and inheritance patterns follow Mendel s law Q Alleles and genes interact to produce phenotypes Q Genes are carried on chromosomes Character phenotype appearance of organism for a particular trait Phenotypeoutward expression of traits controlled by genes Genotype alleles genes that produce phenotype Gene set of nucleotide base pairs amino acids produce them that reside on a chromosome at a particular locus location Mendel s Approach 0 Pea plants traits 0 Over many generations 0 In depth notes 0 Observed patterns 0 Developed hypothesis 12216 Ch 74 Lecture Outline oMendel 18221884 published expts in 1866 Scienti c Methods New discovery Monohybrid cross Vocab Review of Mitosis Meiosis Dihybrid Cross oExamples of human traits that follow Mendelian patterns oPedigree Analysis True breeding homozygote 2 same alleles for given trait Heterozygote 2 different alleles for given trait Monohybrid cross start with 2 true breeding parents of different phenotypes use F1 hybrids Where does genetic variation come from A Mutations B Recombination C Natural Selections D All of the Above E More then one of the above but not all of above Answer e Mendel s Conclusion Blending inheritance was rejected Dominant trait trait will always be expressed Recessive trait trait expressed only when homozygous Phenotype outward appearance of trait Genotype genes that control trait amp parental generation amp 1St lial generation offspring Rerr Rr Rr F Rr Rr r R r RR Rr Rr rr r Phenotypic ratio 31 Genotypic Ratio 121 Mendel s Law 1 Law of random segregation of alleles in formation of gametes Law assumes alleles independently sort and alleles are on different chromosomes Mitosis somatic cells Meiosis gametes See textbook for illustrations between the differences of these two Genetic Variation 1 Crossing Over Meiosis 2 Which Chromosome goes in which cell Dihybrid Dde x Dde DB Db Bd bd DB BBDD DDBb BBDd DBdb Db DDBb DDbb DBbd Dbbd 3d DBBd DBdb Bde Bbdd bd DBbd Dbbd Bbdd bbdd Monohybrid Cross Bb x Bb Genotypes 25 50 25 Phenotypes 75 and 25 12516 Lecture Outline Mendel 18221884 0 Mendel s 1St Law Law of random segregation o Dihybrid Crosses Mendel s 2 dLaw Law of independent assortment Examples of human traits that follow Mendelian patterns Pedigree analysis Exceptions to basic patterns Mendel s Laws 1 Law of Random Segregations of alleles into gametes 2 Law of independent assortment of genes Genes alleles for one trait assort independently from those of other traits o quoton ques onsadd o quotandquot questions multiply Test cross cross unknown genotype with homozygous recessive Bb pretend unknown x bb Offspring Bb Bb bb bb BB pretend unknown x bb Offspring Bb Bb Bb Eb Test cross tells what unknown parent is because of the offspring produced 0 Independent Assortment Assumes Genes aren t on the same chromosomes No intermediates between dominant recessive phenotypes Alleles don t interact with one another Only 2 alleles Human Diseases examples 0 Autosomal recessive taysachs Sickle cell anemia Cystic brosis Autosomal dominant Huntington s disease Achondroplasia dwar sm Marfan syndrome Familial hypercholesterdemia Autosomal nonsex chromosomes 0 Dominance tells us nothing about frequency of allele in population Ranges from complete to incomplete Dominant alleles do not affect function of recessive 12716 Lecture Outline Review Dihybrid crosses Law of independent assortment Using probability to solve multiallele problems Other patterns of inheritance lncomplete dominance Epistasis Pleiotr0py Quantitative traits Multiple alleles Codominance Chromosomal basis of inheritance oThomas Hunt Morgan seX linked traits Patterns of xlinked inheritance and pedigree analysis Testing for chromosomal abnormalitites Example Aa x Aa be AA Aa aa 14 12 14 Bb x BB gene BB BB Bb Bb 12 12 gene AaBch x AaBBcc What fraction of offspring will Heterozygous for all 3 genes 12 x 12 x 12 18 Homozygous dom for at least one 141234 Homozygous rec for at least one chcc 141234 CcCccccc 12 12 Assumptions of Mendelian inheritance 1 Genes assort independently from each other 2 No intermediate phenotypes 3 Alleles do not interact 4 Working with only two alleles in population for a given trait Incomplete Dominance heterozygotes show intermediate phenotypes Ex Merle gene M Mm dog is normal full colored Mm is merle alters base color random MM homozygous merle usually deaf or blind Codominance ABO blood types AA or A0 00 universal donor No antigens on it BB or BO AB Epistasis one gene affects expression of another gene Ex mice Ex PKU PAH phenylalanine hydroxylase converts aa phenylalanine to tyrosine PAH defective in individuals with PKU Pleiotropy single gene with more than one effect Ex White cats are deaf Gene D can be thought of as quotgenetic interactions environmentquot affecting expression of trait Polygenic or quantitative traits multiple alleles control phenotype Ex Height skin color hair color eye color Morgan s Results 1 Genes on chromosome 2 Sexlinkage carried on x chromosome most often in males Sex linked traits in humans Colorblindness Hemophilia 0 Male pattern baldness Dusche s muscular systrophy X linkage Primarily expressed in males 12916 Lecture Outline Chromosomal basis of inheritance Thomas Hunt Morgan Sexlinked traits Patterns of xlinked inheritance pedigree analysis 0 Testing for chromosomal abnormalities amniocentesis chorionic villi sampling 0 Darwin 18091882 oOther ideas of evolution biblical notion of special creation greek philosophical notion of ldeal Forms Lamarcks theory of Acquired Traits Carrier doesn t show trait Barr body inactivated x chromosome in females Anhidrotic ectodermal dvsplasia splotchy spots of sweat glands patches of working nonworking Penetrance proportion of individuals of that genotype Nondisjunction of chromosomes occurs at Meiosis l II Amniocentesis fetal cells in amniotic uid extracted at 1518 weeks gestation Chorionic villi sampling 1013 week gestation fetal cells of chorionic villi extracted Ka ryotypes chromosome map Lecture Outline 0 Review recap of Mendelian Inheritance Exceptions to XY sexdetermination 0 Darwin 0 Other ideas about evolution bibica notion of special creation Greek philosophical notion of ldeal Forms Lamarck s theory of Acquired Traits Conditions for natural selection outcome of natural selection Why are chili peppers hot 0 Why does selection not equal perfection or even quotoptimal phenotype Spermatheca sperm storage organ of queen measure tness by of offspring Charles Darwin 18091882 0 Lamarcks theory of Acquired traits individual could acquire a bene cial trait pass to offspring didn t believe it had to be genetic o Buffon 17071778 Suggests earth might be as old as 168000 0 James Hulton 17261797 quotFather of modern geologyquot theory of uniformitarianism George Cuvier 17691832 catastrophism layers of sedimentary rock have unique fossils Capsasin in chili peppers hydrophobic 2316 Outline 0 Conditions for natural selection 0 Outcome of natural selection 0 Why are chili peppers hot 0 How do we measure evolutionary change Why does selection not equal perfection or even optimal phenotypes 0 Evidence for evolution in current and historic time Chilies produce capsaisin Tewksbury JJ found mammals don t eat chilies but birds do birds disperse seeds in more favorable conditions Conditions for Natural Selection 0 Variation in trait under selection Trait must be heritable 0 Must affect population ie Affect tness Change in phenotypic frequency underlying genotype Absolute tness of offspring produced by an individual OR of genes an individual contributes to next generation Relative tness of offspring or genes an individual produces Average of offspring produced by all members of DOD Why does selection not equal perfection 0 Why do traits not go to xation o no single phenotype Environment isn t stable always changing Maintenance of suboptimal phenotypes genotypes due to linkage recombination etc Trade offs between among traits effects tness Phyogenetic constraints ex Humans cannot y Selection operates at level of the individual but is expressed in outcome of phenotypic frequency of whole population Directional selection mean shifts left or right Stabilizing selection lower and higher ends of variants don t do as well as mean Ex Human birth rate Thomas Malthius Human population limited by resources Darwins hypothesis all nches derived from same original species Observation despite resemblance each species has variation in nches beak size Ecological evolutionary factors geographic isolation competition ecological environments Geographic isolation prevents mix of genes with original species favoring stabilization of genetic characterisics Ecological environments within same island specializations characterized by different beak size shape Competition Severe during dry periods increased survivorship passes on genes to next generation Lecture Outline Populations evolve Define evolution Patterns of selection directional disruptive balancing Hardy Weinburg equilibrium Conditions for selection to occur 1 Genetic diversity 2 Heritable 3 Affect tness Occurs among individuals among populations not species Outcome of Selection Change of underlying genotype frequency 0 Selection doesn t equal Perfection 1 Environment not constant 2 Maintenance of suboptimal traits 3 Phylogenetic constraints limit in variation 4 Trade offs Types of Selection 1 Directional 2 Disruptive 3 Stabilizing Hardy Weinburg Theorum States No matter how often organisms within population make gametes those gametes recombine at fertilization the frequency of alleles in that population won t change unless population is acted upon by an outside force pq 10 pquot22pq qquot2 10 genotype frequency 2816 Outline HardyWeinberg Rules Exceptions 1 Large population size 2 No selection 3 No mutation 4 No emigration or immigration 5 Mating is random with respect to phenotype Alleles frequency won t change unless acted on by outside force 0 Why do populations NOT remain at equilibrium Genetic Drift Founder Effect Natural Selection Sexual Selection Mutation mmigration emigration Genetic Drift loss of alleles due to random events sampling from small population Founder effect over representation of a few alleles due to bottleneck Selection Frequency Dependent Selection Sexual Selection 0 Frequency Dependent Selection selective ex Reproduction advantage to rare phenotype ex Scale eating sh of lake Tanganyika Sexual Selection traits that have reproduction advantage 1 lntersexual Selection female choice of males with greater ornamentation of traits indicate of quality 2 lntrasexual Selection Male male competition for access to mates 21016 Outline 0 Sexual selection 0 What s in a name Scienti c nomenclature Phylogenetic trees How to construct phylogenies traits to use avoid homoogy vs analogy Convergent Evolution 0 Sexual Selection ntersexua female choses male ntrasexua male vs male Femaes want quality of offspring Since females cannot see male genotypes directly they rely on ornamental traits that re ect male vigor 0 Major Histocompatibility Complex MHC Large gene family found in most vertebrates mportant role in immune system 0 Microevolution changes in allele frequencies within or among populations 0 mm group of interbreeding or potentially interbreeding members of same species in given area Biolodical Species concept group of organism populations that are able to mate produce fertile offspring Linnaean Hierarchial Classi cation shows how closely animals are related 0 Phylogeny hypothesis about the evolutionary relationships among taxa What traits do you use to come up with phylogeny Physical traits Behavior DNA Fossil record Development in utero Homologous structures derived from common ancestor Analogous traits that evolved independently o Vestigial traits traits no longer functional once functioned in ancestor Ex tailbone membrane over eye 21216 Outline Phylogenetic trees How to construct phylogenies Traits to use and avoid Homology vs Analogy Convergent Evolution 0 Importance of phylogenies application Homologous Derived from a common ancestor Analogous convergence Convergent evolution independent evolution of similar traits animals look similar but not related ex Anteaters wings of birds and bats Construct thlooenies ldentify gene or region of DNA sequence it Align homologous DNA sequences from 2 species The more closely related fewer differences 0 Maximum parsimony simplest explanation of hypothesis with least number of steps or character state changes 0 Maximum likelihood uses rules of Probability of character state changes 0 You need to look at DNA or reconstruct phylogenies to see if traits are homologous or analogous o Exaptation trait that evolved in one context adaptive in another context ex Monarch butter ies Sequester ability to store secondary compounds Clade monophyletic groups o Monophyletic group individuals stemming from common ancestor and all descendants Polyphyletic group doesn t include common ancestor Paraphyletic group common ancestor but not all descendants o Basal traits primitive traits from common ancestor Polvtomv unresolved pattern of divergence 0 Branch point where lineage diverge Phylogenic trees show pattern of descent not phenotypic similarity Phylogenetic trees do not indicate when species evolved or how much change occurred in lineage It should not be assumed a taxon evolved from another taxon
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