This unit will review the findings of Gregor Mendel and his pea plants and how Punnett squares and pedigrees can help us study genetics. On the following slides, the red sections highlight the key points. Underlined words = Vocabulary! Hyperlinks are in blue. UNIT 11 - GENETICS Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Find Someone Who 1. Knows the meaning of the term “dominant”? 2. Knows the meaning of the term “homozygous”? 3. Knows the meaning of the term “heterozygous”? 4. Knows the difference between the term “genotype” and the term “phenotype” using the diagram to the left? 5. Knows what a Punnett Square does? "Punnett squares in genetic crossings." Biology. Ed. Richard Robinson. New York: Macmillan Reference USA, 2010. Science in Context. Web. 14 Jan. 2014. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg What is heredity? Heredity is the passing of traits from parents to offspring through their gametes. Here is the family of Queen Victoria, the British monarch known for carrying the mutation for hemophilia. http://education.ucsb.edu/webdata/instruction/hss/Inquiry/SST_inquiry_Examples/Queen_Victori a/victoria_fam_1894_coburg.jpg Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Remember Queen Victoria? Here is her family pedigree showing the disorder hemophilia. Image Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg http://www.mcw.edu/cellbio/colorvision/images/pedigree.jpg What is a pedigree? A pedigree shows the relationships within a family and can track the appearance of a genetic trait, disease or disorder. • Boxes represent males; circles represent females. • A pedigree always has a key. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Knowledge Check How many generations does this pedigree show? How many individuals in this pedigree are affected by a genetic disorder? Is this disorder a dominant disorder? Explain. Turn and talk to your neighbor. "pedigree." Experiment Central. U*X*L, 2010. Science in Context. Web. 14 Jan. 2014. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Review Slides Slides 10 through 20 are review slides from middle school genetics. Our genetics pre-test will give you feedback on your knowledge of these slides; if you pass with 85% accuracy, you would NOT need to copy these slides, only review them. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Mendel: The Father of Genetics An Austrian monk named Gregor Mendel performed experiments during the 1800s to understand the process of traits. • Traits are the specific characteristics of an organism (blue eyes, brown hair, etc). • Mendel used pea plants from his garden to study. • He noticed that sometimes the “parent” pea plants did not match the characteristics in “children.” http://dogfoose.files.wordpress.com/2008/10/14-15-pea-plants.jpg Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Mendel’s Experiments Mendel studied the plants and found variations, or differences. • EX Purple or white flowers, tall or short plants, and even round versus wrinkled peas. He crossed (or pollinated) plants with different traits and studied the results. http://www.micro.utexas.edu/courses/levin/bio304/gen etics/mendel.gif Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Mendel’s Experiments Cont. He found that ALL purple flowers, round peas, and tall plants were the MOST common (called the F1 generation or first generation). In the second cross, the F2 generation, Mendel observed differences (white flowers, wrinkled peas, short plants). He concluded that some traits only appear under certain conditions. http://www.groundscience.com/solutionsnewsletter/so lutions15/pea.jpg Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Mendel’s Experiments Cont. Genotype & Phenotype Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg http://bio1151.nicerweb.com/doc/class/bio1151/Locked/media/ch14/14_06PhenotypeVsGenotype_L.jpg Genotype vs. Phenotype The genetic makeup and inherited combination of alleles is known as the offspring’s genotype, or “the letters that you GET.” • EX “Tt” or “tt” The physical characteristic and the appearance shown in the organism (purple flowers, blue eyes, etc) is called the phenotype. The phenotype is the “PROOF” of the allele that is there and is what you “SEE”. • EX “Tall plant” or “short plant” Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg What are alleles? "Widow's Peak." Experiment Central. U*X*L, 2010. Science in Context. Web. 8 Jan. 2014. Genes are sequences of DNA that codes for a protein and determines a trait (EX the protein for brown fur; blue eyes). The different forms (options) of a gene are known as alleles. • EX widows peak versus no widows peak Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Rule of Dominance The stronger trait that will always appear is the dominant allele (shown with a capital letter). The allele that did not appear, sometimes called the hidden trait, is called recessive (shown with a lowercase letter). Detached earlobes are a dominant allele; attached earlobes are recessive. Illustration by Temah Nelson. "earlobes." Experiment Central. U*X*L, 2010. Science in Context. Web. 8 Jan. 2014. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Homozygous vs. Heterozygous Sketch the following! Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg An organism can be homozygous dominant or homozygous recessive if they have two identical alleles for a trait. • From Greek, homos - the same • Homozygous dominant (AA) • Homozygous recessive (aa) • The recessive allele can ONLY be seen in the homozygous form (normally HIDDEN). Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg http://www.plant.uoguelph.ca/research/b iotech/haploid/homo.gif What is Homozygous? What is Heterozygous? An organism with a mixed allele pair is heterozygous (Aa) and often called a hybrid has the opportunity of having offspring with both traits. • If two heterozygous organisms cross, you can have offspring that exhibit (or show) the recessive trait. http://www.plant.uoguelph.ca/research/biotech/haploid/homo.gif Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg What is a Punnett Square? Reginald Punnett is one of the most “unknown” well-known scientists because he developed the Punnett square to model genetic probability. He published Mendelism in 1905 to explain the concepts of Mendelian genetics. A Punnett square is a chart used to predict and compare the genetic combinations that will result from sexual reproduction. "Punnett Squares." Genetics. Ed. Richard Robinson. New York: Macmillan Reference USA, 2010. Science in Context. Web. 8 Jan. 2014. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Punnett Squares Cont. In the Punnett square here, you can visualize the genes the parents are passing to offspring. • Each square of the box represents 1 offspring (or child). • Each parent donates 1 allele. • The dominant (capital) allele will always go first, and will always be seen in the organism. "Punnett squares in genetic crossings." Biology. Ed. Richard Robinson. New York: Macmillan Reference USA, 2010. Science in Context. Web. 8 Jan. 2014. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Knowledge Check Why is the Punnett Square to the left called a “monohybrid cross”? How many offspring will display the dominant trait versus the recessive trait? What genotypic ratio will be seen in the offspring? Turn and talk to your neighbor. "Punnett Square with Monohybrid Cross." Science Online. Facts On File, Inc. Web. 14 Jan. 2014. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Knowledge Check In screech owls, red feathers (F) are dominant over gray feathers (f). If two heterozygous red-feathered owls are mated, what percentage of their offspring would be expected to have red feathers? Use the chalk and complete the cross! http://exchangedownloads.smarttech.com/public/content/73/7 31dc772-fd50-4973-a24292b232ea9aaa/previews/medium/0001.png Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Knowledge Check http://exchangedownloads.smarttech.com/p ublic/content/73/731dc772-fd50-4973-a24292b232ea9aaa/previews/medium/0001.png In watermelon plants the allele for solid green fruit (G) is dominant over the allele for striped fruit (g). Pollen from a flower of a homozygous green watermelon plant is used to pollinate a flower from a heterozygous green watermelon plant. What percent of the offspring of this cross will bear striped watermelons? Use the chalk and complete the cross! Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Incomplete Dominance http://www.gwu.edu/~darwin/BiSc150/One/ro se.GIF We now know that there are also instances of incomplete dominance, where there is none that is dominant or recessive but a mixture (blending) of both alleles. • EX in certain flowers; a white crossed with a red can produce a pink flower. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Knowledge Check If a plant producing pink flowers (RW) is allowed to self pollinate repeatedly, what colors would be expected to be seen in the garden? Use the chalk and complete the cross! http://exchangedownloads.smarttech.com/public/content/73/7 31dc772-fd50-4973-a24292b232ea9aaa/previews/medium/0001.png Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Codominance There are also instances of codominance, where both dominant alleles are expressed. • EX in erminitte chickens; a white crossed with a black will produce a chicken with both black and white feathers. http://myloupe.com/home/info-price-rf.php?image_id=465633 Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Codominance Cont. A chestnut horse (CBCB) crossed with a cremello horse (CwCw) will produce a palomino horse (CBCW) More on horse genetics! http://www.diamondjfarms.com/photo/c otton(5-08)2ce.jpg http://www.freewebs.com/horsesare the_best/chestnut%20horse.jpg CBCB CWCW CBCW Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg http://www.encyclopedia.com/topic/palomino_horse.aspx Knowledge Check If cremello stud (CWCW) reproduces with a chestnut mare (CBCB) what is the likelihood their foal could resemble the mother? Use the chalk and complete the cross! http://exchangedownloads.smarttech.com/public/content/73/7 31dc772-fd50-4973-a24292b232ea9aaa/previews/medium/0001.png Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Multiple Alleles http://ghs.gresham.k12.or.us/science/ps/sci/soph/genetics/notes/bloodtype.htm Not all genes have just two alleles for the trait; traits with more than two alleles are described as having multiple alleles. • EX Hair color, eye color, and blood types are all examples of human traits with multiple alleles. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Multiple Alleles Cont. 3 Alleles for Blood Type: A, B, O “A” and “B” are codominant over “O” which is recessive Phenotype Genotype Can Receive Blood From Can Donate Blood To A IA IA , IA i A, O A, AB B IBIB, IBi B, O B, AB AB IA IB A, B, AB,O AB O ii O A, B, AB, O Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Knowledge Check If a woman with O blood (ii) reproduces with a man with AB blood (IAIB), what phenotypes will be seen in their offspring? Use the chalk and complete the cross! http://exchangedownloads.smarttech.com/public/content/73/7 31dc772-fd50-4973-a24292b232ea9aaa/previews/medium/0001.png Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Knowledge Check If a woman with AB blood (IAIB) reproduces with a man with A blood (IAi), what phenotypes will be seen in their offspring? Use the chalk and complete the cross! http://exchangedownloads.smarttech.com/public/content/73/7 31dc772-fd50-4973-a24292b232ea9aaa/previews/medium/0001.png Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Polygenic Traits http://www.algebralab.org/img/4 9ab8f77-f675-423a-b8afd46874987ab3.gif Not every trait is controlled by one gene. Traits controlled by two or more genes are said to be polygenic traits, which means “having many genes”. Human stature (or height) is controlled by multiple genes. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Sex-Linked Genes Genes that are located on the X or Y chromosomes are called sex-linked genes. • Many sex-linked genes are found on the X chromosome (which contains more than 100 genetic disorders). http://anthro.palomar.edu/biobasis/images/sex_cells.gif Colorblindness and hemophilia are just two examples of genes relating to the X chromosome. The human Y chromosome is much smaller than the X and only contains a few genes. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg http://exchangedownloads.smarttech.com/public/content/73/7 31dc772-fd50-4973-a24292b232ea9aaa/previews/medium/0001.png Knowledge Check In red-green colorblindness, individuals cannot perceive the colors red and green in the same way as individuals with full color vision. Full color vision is coded by a dominant allele (B) on the X chromosome. Red-green colorblindness is caused by a recessive allele (b) on the X chromosome. Identify the phenotype of a female with the genotype XBXb. Identify the phenotype of a male with the genotype XBY. Use the chalk and complete the cross! Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg http://exchangedownloads.smarttech.com/public/content/73/7 31dc772-fd50-4973-a24292b232ea9aaa/previews/medium/0001.png Knowledge Check Hemophilia is a bleeding disorder carried on the X chromosome where individuals cannot create blood clots due to a missing protein. Normal clotting is coded by a dominant allele (C) on the X chromosome. Hemophilia is caused by a recessive allele (c) on the X chromosome. Queen Victoria of England was a carrier for hemophilia, XCXc. Her spouse was not, XCY. Use the chalk and complete the cross! Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Knowledge Check Duchenne muscular dystrophy is a genetic disease due to the loss-of-function mutation. The bottom diagram shows a typical pedigree for inheritance of an x-linked trait such as Duchenne muscular dystrophy. Which sex is most affected by this disorder? Why? How does the Punnett square relate to the information displayed in the pedigree? Turn and talk to your neighbor. "Genetic trait of Duchenne muscular dystrophy." Biology. Ed. Richard Robinson. New York: Macmillan Reference USA, 2010. Science in Context. Web. 14 Jan. 2014. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Two Factor Cross We understand how a simple Punnett square works by outlining the possibilities for one specific trait • EX eye color = E’s, skin color = G’s The two factor cross shows the possibilities comparing TWO unique traits (using two different letters). • Male Genotype = Gg & Ee • Female Genotype = GG & ee http://cosbiology.pbworks.com/f/12657 37702/9.04.DihyrbidCrossF2.JPG Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Two Factor Step #1 – The Gametes Remember that meiosis creates haploid gametes (sex cells) in an organism with half the number of chromosomes. The first step in a two factor cross is to determine the gametes. What genes will be held in the gametes? • There are two ways to do this: • The FOIL Method • The Box Method Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg FOIL Method FOIL is an acronym standing for first, outer, inner, and last. • First letters in the scenario make one gamete. • Outer letters in the scenario make another gamete. • Inner letters make another gamete. • Last letters make the last gamete. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Box Method 1. 2. 3. 4. 5. Draw a box with 4 boxes. Place the 1st genotype (Gg) on the top of the box. Place 2nd genotype (Ee) on the side of the box. Fill in the four squares. These will be the sex cells represent meiosis and the genes within the (gametes). Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Step #2 – The Two Factor Cross 1. 2. Draw a Punnett square with 16 boxes. Place the gametes on the top and sides (red & blue) 3. Always group the same genes together (G’s with g’s, etc). EX – in the first box, place a GGEe. 4. Fill in the remaining boxes. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg The Dihybrid Cross A two factor Punnett square shows 16 possible genotypic combinations. Ge Ge Ge Ge GE GGEe GGEe GGEe GGEe gE GgEe Ge GGee ge Ggee Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Two Factor Practice 1. Male = Heterozygous using “T”; Homo recessive using “P”; Female = Homo dominant using “T”; Homo recessive using “P” 2. Male = Homo recessive using “R”; Heterozygous using “Y”; Female = Heterozygous using “R”; Hetero “Y” 3. Male = Homo dominant using “B”; Homo recessive using “E”; Female = Heterozygous using “B”; Homo dominant using “E” Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Gene Expression Multicellular organisms need a variety of cell types to perform specific functions for the organism; therefore, individual cells differentiate and become specialized in structure and function. • Differentiation happens due to selective gene expression – some genes are turned off, some are turned on. Internal and external environments can influence gene expression. • EX hormones, sex • EX temperature, nutrition Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Gene Expression Example The arctic fox only has white fur during the winter months, they have brown fur during warmer temperatures. This change in fur color is an example of controlled gene expression. Image Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg http://ccr.coriell.org/nigms/genes/17gene.gif What is a gene map? In 1911, the first chromosomal gene map was produced and showed the gene locations on the chromosomes of a fruit fly. The banding areas represent a named gene [EX NF1] that controls a specific trait(s). Gene maps are now widely used in understanding genetic mutations and sickness since the human genome project. • You can actually download the “GATTACA” sequence for humans at the National Center for Biotechnology Information. Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg Gene Maps Cont. The map is based on the idea of linkage, which means that the closer two genes are to each other on the chromosome, the greater the probability that they will be inherited together. By following inheritance patterns, the relative locations of genes along the chromosome are established. Adapted from Genome.Gov Background Image: http://www.flowerevery.com/wp-content/uploads/2012/07/pea-plant-flower.jpg