5/11/20151 Genetic Fundamentals & Gregor Mendel Dr. Rick Woodward Chapters 9 & 10 (New/Green Text Book)

5/11/20152 January 12, 2011 Wednesday Today’s Agenda: -Journal Questions: Why do you think the study of genetics is important? What is your New Year’s resolution/goal? -Turn in your gene mutation winter break project. *1. Lecture: Genetics & Mendel’s Laws –Slide Genetic Traits Activity: How alike are we? 3. Work on page 43 in packet: Heredity 4. Video: “Ghost in your genes” 5. Homework: Read Chapter 9 “Mendel Genetics” (page : Second page of packet)

5/11/20153 The Genesis of Genetics A. Genetics was founded with the work of Gregor Johann Mendel, an Austrian monk who experimented with garden peas.

5/11/20154 Mendel’s Experimental Garden

5/11/20155 Situating Mendel Historically ( ) (1859) (1866) (1892) (1910) Darwin on Darwin’s Mendel’s Weismann’s Morgan Mendel bornBeagle On the Origin Paper germ plasm finds white Voyage of Species published theory fruit fly Napoleon CrimeanFormation Mendel’s Sex defeated at Warof German work re- chromo- Waterloo ( )Empire (1870)discovered somes

5/11/20156 Genetic Terminology Key Concept! A. Heredity is the transmission of characteristics from parents to offspring. B. A trait is a specific characteristic such as height or eye color.

5/11/20157 Genetics Terminology C. Molecular genetics is the study of the structure and function of chromosomes and genes.

5/11/20158 Mendel’s Observations A. Mendel observed seven characteristics in pea plants. B. He looked at contrasting traits: 1. Plant height (long or short stems) 2. Seed color (yellow or green) 3. Flower color (purple or white)

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10 Mendel’s Observations C. Mendel studied each characteristic and its contrasting trait individually.

5/11/ Mendel’s Experiments: Crossed Pea Varieties with 7 Clearly Distinguishable Traits

5/11/ Mendel’s Observations D. He began by growing plants that were pure for each trait. (1) Plants that are pure for a trait always produce offspring for that specific “pure” trait.

5/11/ Mendel’s Observations E. The term strain denotes plants that are pure for a specific trait. F. The first strain is referred to as a parental generation, or P 1 generation.

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5/11/ Mendel’s Observations G. When the plants matured, he recorded the number of each type of offspring produced by the P 1 plant. (1) He called the offspring of the P1 generation the first filial generation, or F1 generation.

5/11/ F1 x F1 Punnett square F2 genotypes 1/4 SS 1/2 Ss 1/4 ss F2 phenotypes 3/4 smooth 1/4 wrinkled

5/11/ Terminology A. An allele is an alternative form of a gene. (1) Letters are used to represent alleles. (i.e. T, t) (2) Dominant Trait: TT (Tallness) (3) Recessive Trait: tt (shortness) B. Gene: a segment of DNA that contains coding for a polypeptide or protein; a unit of heredity information.

5/11/ Terminology C. Punnett Square: Used for predicting the probability that certain traits will be inherited by offspring. (1) Punnett Square = P for Probability

5/11/ Terminology D. Homozygous: When both alleles of a pair are alike, or the same, the organism is said to be homozygous for that characteristic. AA = RED aa = BLUE

5/11/ Terminology E. Heterozygous: When the two alleles in the pair are different, the organism is heterozygous for that characteristic. Tt

5/11/ Terminology F. The genetic makeup of an organism is its genotype (1) Combination of alleles (Rr, rr, RR)

5/11/ Genotypic Ratio 1. Cross (Tt) (Tt) using a Punnett square. 2. What is the genotypic ratio? Genotypic Ratio = 1TT:2Tt:1tt

5/11/ Terminology G. Phenotype is the physical appearance or expression of the genotype. (Flower Color) (1) Flower Color is the physical appearance/phenotype.

5/11/ Phenotypic Ratio 1. What is the phenotypic ratio of a cross between (Tt)(Tt)? - Use a Punnett Square to assist you. 2. The phenotypic ratio is 3 Tall: 1 Short

5/11/ Ratios F1 x F1 crosses: Mendel also discovered that traits that disappear in the F1 generation reappear in the F2 generation in a 1:3 ratio.

5/11/ Hybrids A. A hybrid is….. B. A monohybrid cross is a cross between individuals that involves one pair of contrasting traits (TT)(tt) C. A Dihybrid cross is a cross between individuals that involve two pairs of contrasting traits. (BBSS) (ssbb)

5/11/ Dihybrid cross: F1 generation

5/11/ Dihybrid cross: F2 generation Ratio: 9:3:3:1

5/11/ Hybrid Cross

5/11/ Dominant versus Recessive Traits

5/11/ Recessive Traits versus Dominant Traits A. Recessive Trait: Referring to an allele that is masked by the presence of another allele for the same characteristic. (1) Example: T = Tall t = Short tt = Short (recessive trait)

5/11/ Recessive Traits versus Dominant Traits

5/11/ Recessive Traits versus Dominant Traits B. Dominant Trait: The dominant trait dominants over a recessive trait unless the recessive trait is homozygous tt = shortness. (1) Example: T = Tall t = Short TT = Tall (Dominant Trait) Tt = Tall (Dominant Trait)

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Epigenetics A. May control the expression of our genes. B. Involves the modifications of the activation of certain genes, but not the basic structure of DNA C. Possible Epignetic Processes: 1. Gene silencing 2. Chromosome inactivation 5/11/201535

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5/11/ Today’s Activity: HOW ALIKE ARE OUR ALLELES? Find out the alleles you have for different traits Find out the alleles you have for different traits  For each trait, write down whether you express that trait and whether you are dominant or recessive.

5/11/ TONGUE ROLLING DOMINANT Trait: The ability to roll up the sides of the tongue (RR, Rr) RECESSIVE Trait: Not being able to roll up the sides of the tongue (rr) Not being able to roll up the sides of the tongue (rr)

5/11/ nd TOE LENGTH DOMINANT Trait: DOMINANT Trait: 2nd toe is longer than the big toe 2nd toe is longer than the big toe (BB, Bb) RECESSIVE Trait: RECESSIVE Trait: 2nd toe is shorter than the big toe 2nd toe is shorter than the big toe(bb) -note the presence of a toe ring.

5/11/ WIDOW’S PEAK DOMINANT Trait: DOMINANT Trait: Hairline has a point, widow’s peak is present Hairline has a point, widow’s peak is present (WW, Ww) RECESSIVE Trait: RECESSIVE Trait: Hairline has no point, no widow’s peak Hairline has no point, no widow’s peak(ww)

5/11/ ATTACHED/FREE EARLOBES DOMINANT Trait: DOMINANT Trait: Earlobes hang freely from the ear Earlobes hang freely from the ear (EE, Ee) (EE, Ee) RECESSIVE Trait: RECESSIVE Trait: Earlobes are attached to the side of the face Earlobes are attached to the side of the face(ee)

5/11/ HITCHHIKER’S THUMB DOMINANT Trait: DOMINANT Trait: Thumb is straight slightly angled Thumb is straight slightly angled (HH, Hh) RECESSIVE Trait: RECESSIVE Trait: Thumb can be bent backwards Thumb can be bent backwards(hh)

5/11/ HAIRY KNUCKLES DOMINANT Trait: DOMINANT Trait: No hair on middle parts of fingers (HH, Hh) RECESSIVE Trait: RECESSIVE Trait: Hair is present on middle parts of fingers (hh)

5/11/ DIMPLES DOMINANT Trait: DOMINANT Trait: Dimples present Dimples present (DD, Dd) RECESSIVE Trait: No dimples RECESSIVE Trait: No dimples (dd)

5/11/ CLEFT CHIN DOMINANT Trait: DOMINANT Trait: No cleft present in the chin No cleft present in the chin (CC, Cc) RECESSIVE Trait: RECESSIVE Trait: Chin has a cleft or indentation Chin has a cleft or indentation(cc)

5/11/ STRAIGHT/BENT PINKIES DOMINANT Trait: Pinkies are straight (SS, Ss) RECESSIVE Trait: RECESSIVE Trait: Pinkies are bent Pinkies are bent(ss)

5/11/ HANDEDNESS DOMINANT Trait: DOMINANT Trait: Right-handed Right-handed (HH, Hh) RECESSIVE Trait: RECESSIVE Trait: Left-handed Left-handed (hh) (hh)

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5/11/ January 13, 2011: Thursday Today’s Agenda: -Journal Question: What is the difference between a genotype and a phenotype? -What is epigenetics? *(1) Lecture on Mendel’s Laws (finishing unit) –slide 85 (2) Start Face Lab (last pages of your packet.) (3) HW: Finish pages 44, 46, 48 in your packet. (4) Study guide given out next class. -Bring flash cards if you need them. (5) Exam next week on Mendel & Genetics -All work is due on the day of the exam

5/11/ Mendel’s Laws & Other Key Concepts 1. Mendel’s Law of Segregation 2. Mendel’s Law of Independent Assortment 3. Mendel’s Law of Dominance 4. Mendel’s Law of Incomplete Dominance Other Key Concepts: 1. Blood Types 2. Homologous Chromosomes 3. Crossing Over 4. Sex-Linked Traits (pedigree chart) 5. DNA versus RNA

5/11/ Mendel’s Law of Segregation A. Law of Segregation states that a pair of factors (alleles) is segregated, or separated, during the formation of gametes (reproductive cells) (1) When two gametes combine during fertilization, the offspring have two factors controlling a specific trait (Gg)

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5/11/ Law of Segregation and Recombination A. Each trait is transmitted as an unchanging unit, independent of other traits, thereby giving the recessive traits a chance to recombine and show their presence in some of the offspring.

5/11/ Mendel’s Law of Independent Assortment 1. Traits are not inherited together. 2. In forming the gametes, the “Factors” for any two traits assort independently from one another 3. This became known as Mendel’s second principle: Independent Assortment

5/11/ Independent Assortment

5/11/ Mendel’s Law of Dominance C. Law of Dominance 1. Of two contrasting characteristics, the dominant one may completely mask the appearance of the recessive one.

5/11/ Mendel’s Law of Incomplete Dominance D. Incomplete Dominance 1. Pattern of inheritance in which neither allele is dominant 2. Three totally different phenotypes can occur.

5/11/ Incomplete Dominance

5/11/ Mendel’s Law of Co-dominance E. Incomplete dominance is also called Co-dominance 1. Co-dominance occurs when one allele is not dominant. 2. Both alleles are expressed equally.

5/11/ Co-Dominance: Blood Types

5/11/ What are Blood Types? Everybody has a blood type. The most common blood type classification system is the ABO (say "A- B-O") system discovered by Karl Landsteiner in the early 1900s. There are four types of blood in the ABO system: A, B, AB, and O. Your blood type is established before you are born, by specific genes inherited from your parents. You receive one gene from your mother and one from your father; these two combine to establish your blood type. These two genes determine your blood type by causing proteins called agglutinogens (a-GLOO-tin-a-gins) to exist on the surface of all of your red blood cells.

5/11/ Blood Types

5/11/ Blood Types

5/11/ What is the most common blood type? Answer: Type O Positive Everyone can accept type O blood.

5/11/ Blood Types

5/11/ Blood Types

5/11/ Homologous Chromosomes A. Two copies of each autosome are called homologous chromosomes. (1) They are the same size, shape, and carry genes for the same traits.

5/11/ Homologous Chromosomes

5/11/ Homologous Chromosomes B. Homologous pairs of chromosomes segregate during meiosis.

5/11/ Crossing Over A. Portions of chromatids may break off and attach to adjacent chromatids on the homologous chromosome = a process called crossing over.

5/11/ Sex-Linked Traits A. Sex-linkage is the presence of a gene on a sex-chromosome. B. Sex Chromosomes: XX = Female XY = Male C. X-Linked Traits: (1) Colorblindness (2) Hemophilia (3) Duchenne Muscular Dystrophy

5/11/ Sex-Linked Traits

5/11/ Pedigree A. A pedigree is a family record that shows how a trait is inherited over several generations.

5/11/ Review: DNA vs. RNA DNARNA 1. Location: NucleusRibosome 2. Function: Directs activitiesProtein Synthesis of the cell 3. Nitrogen Bases: ATCGAUCG 4. Structure: Double HelixSingle Strand

5/11/ Genetic Testing Kits for the Public A. Genetic Testing kits are available to check your DNA for possible anomalies.

5/11/ Parts of a Nucleotide

5/11/ Nitrogen – Base Pairing A bonds with T:AT C bonds with GCG

5/11/ Karyotype A picture of an Individual’s Chromosomes

5/11/ Polyploidy A. When organisms contain some multiple of the normal number of chromosomes, they are called polyploid organisms.

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5/11/ Recombinant DNA Technology

5/11/ Face Lab (January 18, 2011) - Journal Question: What genetic traits do you think that you get from your parents? (Name/Identify 2 traits) 1. Find a friend to perform today’s lab with. 2. Lab: Data Table & Diagram Your Results. (Last pages of your packet) -Diagram your offspring as a teenager. (use color pencils) 3. Write a brief biography of your teen. 4. Homework: Finish your packet & Face Lab Portrait

5/11/ Today’s Lab Find a partner to work with and perform the face lab on human genetics. Materials: 1. Coin (Heads = Dominant. Tails = Recessive) 2. Lab 3. Color Pencils and paper to diagram face.

5/11/ Today’s Lab 1. Each of you must diagram a portrait of your child as a teenager. 2. Name your child 3. On the back of your portrait write a brief life history of your child.

Today’s Agenda January 20, 2011 Journal Questions: -How do the nitrogen bases pair up in DNA? -What are the three parts of a nucleotide? *1. Brief Lecture: DNA Replication 2. Complete Face Lab –Draw your teen and write a brief biography. 3. Work on Study Guide for Exam VI 4. Exam on Monday (Jan. 24, 2011) 5/11/201587

DNA Replication A. The process of copying DNA in a cell is called replication. (1) During replication, the two nucleotide chains separate by unwinding, and each chain serves as a template for a new nucleotide chain. 5/11/201588

DNA Replication 5/11/201589

Steps of DNA Replication (1) Separation of two nucleotide chains. a. Point of separation = Replication fork (2) Chains are separated by enzymes called helicases. (3) Helicase enzymes move along the DNA molecule, they break the hydrogen bonds between the complementary bases, and the chains separate. 5/11/201590

Steps of DNA Replication (4) DNA Polymerases bind to the separated chains of DNA. 5/11/201591

Steps of DNA Replication (5) As DNA Polymerases move along the separated chains, new chains of DNA are assembled using nucleotides that are complementary to the existing DNA chains. 5/11/201592

Steps of DNA Replication (6) The complementary nature of the two chains of DNA is the foundation for accurate DNA replication. -Nitrogen Base Pairing Rules: A – T C – G GATTACA CTAATGT (Complementary Strand) 5/11/201593

DNA Replication When DNA replication is completed, (1) Two new exact copies of the original DNA molecule are produced (2) The cell is now ready to undergo cell division (P.M.A.T). 5/11/201594

5/11/ Next Topics for the End of the Semester: January 27, 2011 (Thursday) 1. Gene Mutations 2. DNA Replication 3. Recombinant DNA Technology 4. Protein Synthesis -Comprehensive final exam with emphasis on genetics, the cell, organelles and their functions.