The Work of Gregor Mendel

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1 11-1 The 11-1 Work of Gregor Mendel The Work of Gregor Mendel Who was Gregor Mendel? Define genetics. Define heredity. In Mendel s time there were primarily two hypotheses concerning the mechanism of heredity. Compare and contrast them. 1) The Blending Hypothesis 2) The Particulate Hypothesis Generally, what did Mendel do? When and where did he do it? Interpret the cartoon Why did the world yawn?

2 As you ll see, Mendel got lucky in many ways. One of the biggest was his choice of experimental subject. Why are peas perfectly suited for genetic research? (One is shown in the cartoon. What are two others?) What other organisms are now used heavily in genetic research for the same reasons? As shown in the cartoon, there were many easily observable pea plant characters that showed only two contrasting traits. Define character and identify (label) the examples of characters shown (See the next slide for names). What do we now know determines each character? Define trait and identify (underline) the examples of traits shown. What do we now know determines the contrasting traits of each character? Define gene. Define allele. Mendel's Peas

3 Characters & Traits Mendel s Characters, P Crosses, & F1 Results Mendel s F1 Crosses on Pea Plants Mendel repeated the same experimental procedure over a great many trials. He always began with a P cross. What does the word cross mean in genetic research? What does the P stand for? The parents were always pure or true breeding for their trait. What does this mean? What does the F in F1 stand for, and what is its translation? What does the 1 designate? The table shows only one offspring for each F1 result. Was there only one? Why is it sufficient to show only one? Did Mendel always obtain these same result for all seven characters? What was surprising about Mendel s F1 results? What do we now know that explains this?

4 Mendel s Methods Label the following on the flower diagram: Stamen, Anther, Pistil (Stigma, Style, Ovary, Ovules) What do anthers produce and what does it contain? What do ovules produce and what does each become in pea plants? Define monoecious. Are peas monoecious? Define fertilization. What is the one cell that results? Define pollination. What is self-pollination and what is the result? What is cross-pollination and what is the result? Which did Mendel want to perform in his P generation and why? (Note the scissors in his hand.)

5 Mendel s Methods Create a brief, numbered list of Mendel s experimental methods to produce a parental cross using vocabulary terms and beginning with his choice of parents.

6 Genes and Dominance This cartoon represents only one of Mendel s experimental crosses for only one character, which one? Why might one expect medium-sized plants? Which hypothesis would this support? This shows only two offspring. Why is showing only two (or even one) sufficient? Label the following on the figure: P Generation, Pure Dominant, Pure Recessive, F1 Generation, Hybrids. At this point, you may already know and understand why Mendel got these results, but imagine being him and having to figure out what was going on! Define & label the following: Genotypes using the symbols T for the tall allele and t for the short allele, Homozygous Dominant, Homozygous Recessive, Heterozygous, and label the phenotypes.

7 Mendel recorded results from multiple crosses for each character and hundreds of offspring! As shown in the cartoon, he was the first to apply what, specifically, to the study of heredity? Which hypothesis did his results support? What did he realize was being passed from parents to offspring and how? He didn t use the terms gene or allele, so don t use them in your answer. Re-explain Mendel s discovery using the terms gene and allele. Label the cartoon plants using the terms homozygous and heterozygous, and properly differentiate the homozygotes (dominant vs. recessive). The Gene Idea!

8 Mendel s second conclusion (but considered his first principle or law) is the principle of dominance. Explain this using genetic terms, including zygosity. Label the cartoon plants with their generation, genotypes (both in symbols and zygosity) and what Mendel called them. What is this F1 cross also known as? Genes and Dominance

9 Segregation Mendel s did not cross-pollinate his F1 generation. What did he do? Why? Why does Mendel look so surprised in the cartoon? Were there only 4 offspring from each parent plant? With this in mind, describe these results including the phenotypic ratio. What two things did Mendel infer to explain these surprising results? In genetic terms, define segregation.

10 Segregation In the cartoon, what do the circles with allele symbols inside represent? During what process did Mendel infer the segregation of alleles takes place? Based on this, how many alleles for each character, like height, does each parent contribute to offspring? What process do the arrows in the cartoon represent? Which generation in Mendel s methods are represented by the stable short and tall varieties? Note that the top diagram also shows how Mendel ensured his parent plants were pure. Knowing this, label the lower cartoon diagram with generation symbols and refer to it to explain why all F1 offspring were heterozygous tall.

11 Segregation Now there are worms in the circles! What do they represent? Why? Refer to the cartoon diagram to explain why the F2 offspring were both tall and short. Why are there 4 squares in a Punnett square? Are the two possible combinations to produce heterozygotes genetically different? What is the genotypic ratio of the F2 generation and what does it mean? Now that Mendel knew heredity worked through contrasting factors (alleles), and how they segregate during sexual reproduction, he could predict the outcome of genetic crosses. He didn t use a Punnett square, which wasn t developed until the early 1900s, but he was still able to figured it out GENIUS!

12 This cartoon diagram almost represents Mendel s entire sequence of experimental crosses. Add the missing generation at the top of the diagram, label it and draw a Punnett square that represents that cross. Label the remaining generations shown (note the new one). In general, why did Mendel need to create the F3 generation? Interpret what the three arrows represent going from the F2 to the F3 generation. Create three Punnett squares that predict the possible offspring of each cross to produce the F3 generation. Were Mendel s F3 results what your F2 Punnett squares predict? What was Mendel able to infer from the results of each F2 cross?

13 11-2 Probability & Punnett Squares Probability & Segregation What do the individual letters represent along the top and side of a Punnett square? What do the percentages along with them represent? What do the pairs of letters represent within the Punnett square? What do the percentages represent within the Punnett square? F1 50% 50% Define probability. In a word, what are Punnett squares used for? Results close to these predicted ratios did appear in Mendel s F2 generations supporting which hypotheses and inferences? Why did the results not follow the predicted ratios exactly? 50% F2 50%

14 Probabilities Predict Averages What can probability do? What can it not do? In genetics, what must be done to obtain results close to predicted values? If you flip 20 pennies, how many would you predict should come up heads? Do you expect this result to occur every time? Why? What would help to ensure getting close, or exactly what you predict? Tt Segregation of alleles into eggs Tt Segregation of alleles into sperm Sperm 1 T T T T 1 2 T Explain the analogy shown at right. Explain the multiplication rule of probability and use it to explain why are there 4 squares in a Punnett square? 1 2 t T t 1 4 r Eggs t t t 1 4

15 Punnett Square Practice In pea plants, round seeds are dominant over wrinkled. Predict the genotypic and phenotypic ratios of a cross between one homozygous round plant and one homozygous wrinkled plant.

16 Punnett Square Practice In pea plants, round seeds are dominant over wrinkled. Predict the genotypic and phenotypic ratios of a cross between two heterozygous plants.

17 Punnett Square Practice In pea plants, yellow peas are dominant over green. You are conducting genetic experiments with this character and you need to find out the genotype of a plant with yellow pods. Draw Punnett squares to predict the two possible outcomes of a test-cross for this trait.

18 11-3 Exploring Mendelian Genetics Independent Assortment What is the one difference between Mendel s methods represented in this Punnett square and those you learned about previously? Identify (label) the generation of the parents and of the offspring, according to Mendel s experimental design. These are the genes for texture (R) and color (Y). Describe the genotype of both parents. Describe both the genotype and phenotype of the resulting offspring using correct terms. Define and identify the dihybrids. He then crossed the F1 offspring.

19 The Dihybrid Cross Identify (label) the generation of the parents in this cross according to Mendel. Independent Assortment R r Y y R r Y y Define dihybrid cross and know how to setup the Punnett square. What was Mendel trying to find out by performing this experiment? Define/explain independent assortment. What would it mean if the results were as shown in the left Punnett square? Explain! What would it mean if the results were as shown in the right Punnett square? Explain! What is the phenotypic ratio predicted by the right Punnett square? How did Mendel s results compare to these predicted ratios? What did he conclude?

20 Punnett Square Practice In pea plants, round seeds are dominant over wrinkled and yellow peas are dominant over green. Predict the phenotypic ratio of a cross between two plants heterozygous for both characters (dihybrids).

21 Independent Assortment What is the effect of independent assortment on populations of the same species? Explain the biological significance of this. Do genes always assort independently? Explain how Mendel was lucky regarding this. When do genes not assort independently? What is this called? You now know all that Mendel discovered. List and describe the hypothesis his results supported and the three principles (laws) he developed.

22 Beyond Mendel Define incomplete dominance. Refer to the Punnett square to describe this example of Four O clock flowers.rr If any of the seven characters Mendel worked with showed this type of inheritance, what effect might it have had on his conclusions? Identify (label) the parental and offspring generations in this example according to Mendel. Solve a Punnett square representing an F1 cross. How do the genotypic and phenotypic ratios compare? WW

23 Beyond Mendel Define codominance and explain the examples of Erminette Chickens and ABO blood type. Define multiple alleles and explain the example of ABO blood type. Can an individual have more than two alleles of any gene? Where can multiple alleles be found?

24 Beyond Mendel Which type of inheritance is this an example of? Briefly explain! KEY C= full color; dominant to all other alleles cch = chinchilla; partial defect in pigmentation; dominant to ch and c alleles Full color: CC, Ccch, Cch, or Cc Chinchilla: cchch, cchcch, or cchc Himalayan: chc, or chch Albino: cc ch = Himalayan; color in certain parts of the body; dominant to c allele c = albino; no color; recessive to all other alleles

25 Beyond Mendel Define polygenic trait and refer to this figure representing human skin color as an example. AaBbCc Define single-gene trait. Which type were all seven of the characters Mendel studied in peas (lucky)? If any one of them were polygenic, how might this have effected his conclusions? Which is more prevalent in the human genome? Refer to the diagram to explain how polygenic inheritance works in terms of alleles. Why is this referred to as a quantitative or additive effect. Note that this is a particular kind of bar graph. Define histogram and relate it to this graph. Note that a line and shading has been added to the histogram. Define normal distribution and explain why it is indicative of polygenic inheritance. Aabbcc 20 Fraction of progeny How many genes does this figure show are involved in determining skin color? Is this correct? Give at least three other examples of polygenic inheritance in humans. aabbcc AaBbcc AaBbCc AABbCc AaBbCc AABBCC AABBCc

26 Applying Mendel's Principles When did Thomas Hunt Morgan experiment with fruit flies. Why are fruit flies well-suited for genetic research? What did he learn about Mendel s principles? Morgan and his colleagues searched for and experimented with mutations. What is the mutation shown here? When Morgan crossed a pure red eyed female with a pure white eyed male, all the offspring in the F1 generation had red eyes. Was this expected? When he crossed the F1 hybrids, he observed a 3:1 phenotypic ratio in the F2 offspring. Was this expected? What did he observe about the white-eyed flies in the F2 offspring that was unexpected? What did he conclude? Define sexlinked trait. What was the significance of Morgan s discovery? Give two examples of sex-linked traits in humans.

27 Applying Mendel's Principles Are humans used as experimental subjects in genetic research? Why no? How yes? Define pedigree. Explain how they are used to determine how traits are inherited. Define genetic counseling. Explain how pedigrees are used to determine the probability of a trait being passed on to offspring. Analyze the pedigree above to determine how this trait is inherited. What is the probability that the female in the lower right will have affected children if she mates with a normal male?

28 Genetics and the Environment Hydrangea Are genes the only determinate of traits? Research and describe the example of hydrangea above. Explain the phrase nature vs. nurture in this context. Research and add one more human example to both ends and the middle of the spectrum diagram above. Explain how twins separated at birth are useful in studying this interaction. Define epigenetics and explain how it is related to this concept.

29 11-4 Meiosis Chromosome Number Describe what happens during sexual reproduction relative to genes. Describe what happens during gamete formation relative to genes. How does chromosome number compare between different species? Is there any relationship between the number of chromosomes and the complexity of the organism? How many chromosomes do Drosophila (fruit flies) have? How many from each parent? Define homologous chromosomes (homologous pair). Define diploid (2N). What is N? In animals, like Drosophila, what cells are diploid? Define somatic cell. What is the diploid number for Drosophila? Define haploid (N). In sexual reproducing organisms, what cells are haploid? Why? How? (1 word)

30 Define karyotype. What species is this karyotype of? What is the diploid number for this species? Haploid number? Define amneocentesis. Identify (label) the following in the lower right micrograph: Mitotic Cell, Mitotic Duplicated Chromosomes Review and describe the structure of one of these chromosomes. Identify (label) the following in the karyotype: Mitotic Duplicated Chromosomes, Autosomes, Sex Chromosomes, Homologous Pair Describe how the karyotype was created from the lower right micrograph. Where did each chromosome in each homologous pair come from?

31 Phases of Meiosis Meiosis I ( Mitosis-like) Interphase I Prophase I Metaphase I Anaphase I Telophase I and Cytokinesis Define meiosis using the terms: nuclear, diploid, somatic, homologous, haploid, gamete How many rounds of nuclear division are involved in meiosis? What is the end result? Generally, describe the events of Meiosis I shown above and the resulting daughter cells. Note the differences from mitosis. Fill-in the missing word in the title.

32 Phases of Meiosis Identify (label) as much as possible on both these cell diagrams. Interphase I Describe the events of interphase I (G1, S, G2). Are they different than interphase preceding mitosis? Describe the events of prophase I. Are they different than prophase of mitosis? How so? Define synapsis and when it occurs. Define tetrads and when they form. Prophase I

33 Crossing Over When, specifically, does crossing over (recombination) occur? Does this happen during mitosis? Refer to this diagram to describe the events of crossing over using the terms: tetrad, non-sister chromatids, chiasmata, chromosome segments What do the letters on the chromatids represent? What is being recombined? What is the ultimate result of crossing over at the organism and population level? What is the significance of this?

34 Phases of Meiosis Identify (label) as much as possible on both these cell diagrams. Metaphase I Describe the events of metaphase I. Are they different than metaphase of mitosis? How so? Do the chromosomes line up in any specific arrangement, for example, all maternal chromosomes on one side and all paternal chromosomes on the other? What is the ultimate result of this at the organism and population level? What is the significance of this? Describe the events of anaphase I. Are they different than anaphase of mitosis? How so? What is the result of this separation during anaphase I in terms of the chromosome number in the resulting daughter cells. Anaphase I

35 Phases of Meiosis Describe the events of telophase I and cytokinesis I. Are they different than these phases of mitotic cell division? How so? How do the daughter cells compare? What is the ultimate result of these differences at the organism and population level? What is the significance of this? What does the red arrow represent? Telophase I & Cytokinesis

36 Phases of Meiosis Meiosis II (Mitosis- ) Telophase I and Cytokinesis I Prophase II Metaphase II Anaphase II Telophase II and Cytokinesis II What is the significance of the red arrow? Is there an interphase II that precedes meiosis II? Therefore, what significant event does not occur? Specifically, describe the events of Meiosis II shown above and the resulting daughter cells. What will the daughter cells become? Note the differences from mitosis. Fill-in the missing word in the title.

37 Spermatogenesis Gamete Formation Define spermatogenesis. Refer to the diagram above to describe spermatogenesis using the terms (and labeling) primary spermatocyte, secondary spermatocytes, spermatids, differentiation and specialized.

38 Oogenesis Gamete Formation Define oogenesis. Refer to the diagram above to describe oogenesis using the terms (and labeling) primary oocyte, secondary oocyte, polar bodies, ootid, differentiation, specialized, and ovum.

39 Comparing Mitosis and Meiosis Fill-in the blanks! Mitosis Meiosis DNA replication Occurs during interphase before mitosis begins Occurs during before begins Number of divisions One, including prophase, metaphase, anaphase, and telophase, each including prophase, metaphase, anaphase, and telophase Synapsis of homologous chromosomes forming tetrads Number of daughter cells and genetic composition Does not occur Occurs during, forming ( groups of four chromatids); is associated with between -sister chromatids Two, each diploid(2n) and genetically identical to the parent cell, each (n), containing half as many chromosomes as the parent cell; genetically from the parent cell and from. Role in the animal body Enables multicellular adult to arise from zygote; produces cells for growth and tissue repair Produces ; reduces number of chromosomes by and introduces genetic among the gametes

40 11-5 Linkage & Gene Maps Linkage Define gene linkage. Identify (label) the gender of the Drosophila above. Identify (label) the mutation shown above. Review the chromosome with this gene locus and the scientist who discovered it. Due to it s location, what is this type of gene linkage/inheritance/trait known as? Assuming the flies above are pure for this gene and using them as parents, draw Punnett squares predicting the outcome of a typical Mendelian experimental series (P, F1, F2). Explain how your predicted results show gene linkage using proper terms, including hemizygous. What genes are linked? Which of Mendel s principles does this seem to violate? Are linked genes always inherited together, never separated? If not, why/how?

41 Genetic Mapping Aristaless Dumpy Dachs Black Purple Vestigial Curved Brown Review the number of chromosomes and homologous pairs in Drosophila. (Note that this is a gene map of chromosome #2.) Based on this figure, how were these genes first identified? Define crossover (recombination) frequency. How are recombination frequencies obtained? Define map unit (centimorgan). Explain the relationship between the frequency of crossover and the distance between genes on the same chromosome (linkage). Which gene pair shows the greatest linkage? Explain the relationship between the distance between genes on the same chromosome and the principle of independent assortment. Explain the relationship between crossover frequency and independent assortment.

42 Study this experimental procedure and compare and contrast it with Mendel s. Identify (label) which are possible results, which are predicted results and which are actual experimental results. Use the actual results to calculate the crossover/recombination frequency for these two genes. Are these genes linked? Explain! Do these genes ever assort independent of each other? Explain! How far apart would they be on a genetic map in centimorgans? How can you check your work? How would you explain the discrepancy? Recombination Frequency

is the scientific study of. Gregor Mendel was an Austrian monk. He is considered the of genetics. Mendel carried out his work with ordinary garden.

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