Exam # 1 Study Guide Lectures: 1 - 11Lecture 1 (January 14)Introduction to Human Genetics and Overview of its historyWhat is Human Genetics? Describe the Human Genome. Ethical Concerns of Hereditarianism?Definition of human genetics:- The study of inheritance as it occurs in human beingsHuman Genome:o 3.2 billion base pairso 3% codes for genes, the rest is “junk”o 19,000 geneso we are 99.9% identical to our neighborWhy is Hereditarianism wrong?o Most human traits are dependent on many genes and the environmento Everyone has 5-10 hidden deleterious alleles (if someone has two of the same, they cannot live)o How do you decide which traits are desirable?o “breeding” humans is simply unethicalLecture 2 (January 16) Genes and Genome, MacromoleculesWhat is a trait, gene, DNA, Genome? What is a macromolecule? Name different kinds. Three key properties of DNA. What’s important about Nucleic acids?What is a trait?o An observable property of an organismWhat is a gene?o The fundamental unit of heredityo Basic structural and functional unit of geneticsWhat is DNA?o Deoxyribonucleic acido Helical molecule consisting of two strands of nucleotideso Carrier of genetic infoWhat is a Genome?o Set of DNA sequences carried by an individualo Biggest genome= 132.8 billion bpMacromolecules- Large cellular polymers assembled by chemically linking monomers together- Include: carbohydrates, lipids, proteins, nucleic acidsDNA1. Needs to store genetic info- stored in sequenceZOL 141 1st Edition- A,C,G,T= nucleotides - Almost infinite combinations2. Needs to be self-replicating - Structure must allow faithful replication 3. Needs to be able to mutate- Mutations caused by changing basesNucleic AcidsBases- DNA: Adenine, Thymine, Guanine, Cytosine- RNA: Adenine, Uracil, Guanine, Cytosine- Base pairing specifico A & T: 2 hydrogen bondso C & G: 3 hydrogen bondso Chargaff Rules Purines must = pyrimidines- A=T, G=CLecture 3 (January 21)DNA ReplicationWhat are the leading and lagging strands? How are DNA organized in chromosomes? What are the DNA replication enzymes?Leading/lagging- leading strand synthesized continually- lagging strand synthesized discontinuallyDNA organization- Chromatin: DNA and protein components of chromosomes- Total length of DNA in one cell: 2 meters (6.5 feet)- Needs to fit into nucleus: tight packing- Wraps around histonesDNA replication enzymes: Helicase and DNA polymerase- Helicase: “unzipping enzyme” opens up DNA, breaks hydrogen bonds- DNA polymerase: puts in correct nucleotidesLecture 4 (January 23)The Cell and its OrganellesWhat is a cell? Describe some organelles.The Cell- Basic Unit of structure and function in ALL organismso Humans=100 trillion cells- Cells differ in their size, shape, function and life cycleo Giant squid has 39 foot nerve cellso Ostrich egg yolk= 3 lbs, biggest cell- At structural level they are all similaro Cell has different substructureso Organelles: cytoplasmic structures that have specialized functionso Function of a cell is under genetic controlOrganelleso Nucleus: Nuclear envelope, nucleolus, chromatin, nuclear poreo Endoplasmic reticulum: rough (ribosomes associated, protein synthesis occurs) and smooth(lipids and steroids made)o Golgi complexo Lysosome: “garbage can” unwanted things deposited hereo Mitochondrion: ATP production, contains own DNA, up to 1000 per cell (involved in muscle movement)o Centrioles: important for structure & mitosisLecture 5 (January 26)The Cell CycleDefinition of Cell cycle? How many stages? What is the purpose of Mitosis? What are the phases of mitosis?Cell cycleDefinition: sequence from one cell division to the next cell divisionThree stages:1. Interphase (G1, S, G2)2. Mitosis: produces two genetically identical daughter cells i.e.: nuclear divisiona. Telophaseb. Anaphasec. Metaphased. prophase3. Cytokinesis: cytoplasmic cell divisionMitosisForm of cell division that produces two genetically identical cells, Chromosomes have already replicated- Early prophase: two pairs of centrioles, nuclear envelope begins to break down, nuclear envelope starts to open up- Late prophase: chromosomes condense even more, centrioles migrate to top and bottom of cell- Transition to Metaphase: no nucleus, DNA dispersed throughout cell, spindle fibers begin to attach to centrioles with microtubules- Metaphase: chromosomes line up in middle of cell (equator), each chromosome connected to centriole- Anaphase: movement of chromosomes toward different poles, each chromatid separated, sister chromatids move to opposite poles, ensures that two daughter cells are genetically identical- Telophase: Nucleus begins to form again (in each daughter cell), still connected- Cytokinesis: Daughter cells completely divide from each otherMitosis is Essential for GrowthLecture 6 (January 28)Review of Mitosis Phases, Intro to MeiosisWhat occurs in each of the four stages of mitosis? What does it mean to be diploidvs. haploid?MitosisProphase- Chromosomes condense- Chromosomes randomly located in nucleusMetaphase- Chromosomes align at equatorAnaphase- Sister chromatids break apart and move to opposite poles of cellTelophase and CytokinesisTwo daughter cells with two chromosomes each (stick form)Diploid/haploid- Diploid (2n): somatic cellso Somatic: “normal” human cell:o 46 chromosomes OR 23 pairso diploid, 2no two chromosome sets: one from mom, one from dado each chromosome is represented twice as a member of homologous pair homologous chromosomes have identical loci, one from dad, one from mom- Haploid (n): gameteso i.e., egg or sperm: 23 chromosomes, no pairs!o Haploid, no One chromosome seto Each chromosome represented onceo N=2Lecture 7 (January 30)Meiosis: 1 and 2What occurs in Meiosis 1 and 2? What are the phases involved? What is the end result of meiosis?Meiosis 1: reduces chromosome number to haploidMeiosis 2: separates sister chromatids- Meiosis 1o Prophase 1, metaphase 1, anaphase 1, telophase 1o Cell: Diploid (2n)=4 chromosomes Haploid (n)= 2 chromosomeso Prophase 1: start with replicated chromosomes, two sister chromatids Similar to mitosis in that: nuclear envelope begins to disintegrate Different from mitosis in that: chromosomes begin to pair up “Crossing over”: chromosomes physically exchange partso Metaphase 1: Pair of homologous chromosomes line up at equatoro Anaphase 1: Paired homologous chromosomes separate: homologous chromosomes pulled to opposite ends of cello Telophase: Cells start