Biology Vista Mechanisms of Genetics NOTES Overview Students use simulations and technology to examine the inheritance of traits; the replication, transcription, and translation of DNA and RNA; and the significance of mutations in human populations. General Time Frame 12–13 lessons (50 minutes each) Background Information for the Vista Organisms experience constancy and change. DNA serves as the mechanism for the transmission of genetic information from one generation to the next. The processes of DNA replication ensure constancy in the genetic makeup of cells. However, changes can and do occur through mutation of DNA, directly affecting the traits shown in the gametes or in the body cells of an individual. Over the years researchers, and most recently the members of the Human Genome Project, have extensively examined the human genome. The Human Genome Project began in 1990 when the National Institutes of Health, the Department of Energy, and international partners joined together to decipher the massive amounts of genetic information of selected organisms. One of the many benefits of the Human Genome Project has been a greater understanding of how genetic variation leads to changes in humans. Materials Printed Materials Included in this Vista: Mechanisms of Genetics Vista TEKS Correlation Chart Fundamentally Genetics investigation pages Insect Chromosomes Drawings Dominant Fly investigation pages Insect Parts Drawings DNA, mRNA, and Protein Synthesis (computer simulation) investigation pages DNA, mRNA, and Protein Synthesis (paper/pencil) investigation pages DNA Strands mRNA Genetic Code Wheel mRNA Genetic Code Chart Protein Synthesis: Like a Banana Split investigation pages Line drawings of banana split ingredients The Human Genome investigation pages Inheritance of Sickle-Cell Anemia Assessment Task pages The Charles A. Dana Center at UT Austin 1 Materials for the Teacher to Gather: NOTES 2 Each learning experience has a list of necessary equipment and materials. However, it is not the intention of TEXTEAMS to dictate the types and quantities of materials/equipment to use for the learning experiences. All the materials/equipment that are listed in the learning experiences are suggestions. Teacher’s notes give specific instructions for areas where the author has experienced the need for a specific item. Substitutions for materials/ equipment should be based on local budgets, availability, and facilities. Biology Institute 2004 The Charles A. Dana Center at UT Austin 3 Biology Inheritance of Sickle Cell Anemia Inheritance of Sickle Cell Anemia 4 TEXTEAMS BIology Institute 2004 Biology Inheritance of Sickle Cell Anemia Fundamentally Genetics NOTES Learning Experience 1 Description: Students practice the protocol used for describing genetic traits. As noted in the chart below, students have prior knowledge of genetics from grades 6, 7, and 8. Grade 6 Grade 7 Grade 8 Biology 6.11 (C) 7.10 (C) 8.11(C) 6 (D) Time Frame: 50 minutes Materials: Tasting paper, such as PTC or sodium benzoate (1 per student) Fundamentally Genetics investigation pages (included in the Student Blackline Masters at the end of this vista) Advance Preparation: Prepare a copy of the Fundamentally Genetics investigation pages for each student. Background Information for the Teacher: Why study genetics? One of the most obvious answers is that it is a way to achieve a better understanding of ourselves. However, this interest in actuality can be extended well beyond the realm of the human species and applied to the genetics of other living things as well. Another reason to study genetics is its practical application to the welfare of humans. As we study human genetic variation, we discover and describe its roles in human diseases such as cancer, heart disease, and diabetes. One has only to look at the large number of organizations involved in raising significant funds for research to realize how important this area is to many people. A third reason to study genetics is that it provides us with data that can be used to describe human evolution. Today we have the ability to trace evolutionary history at the molecular level that expands upon the traditional physical anthropology used in the past. The Charles A. Dana Center at UT Austin 5 NOTES One of the steps used to study how traits are inherited is to design a key using upper and lower case letters to represent dominant and recessive forms of a trait, respectively. For example, the letter P might be used to represent the dominant form of polydactyly, while p represents the recessive form of this trait. In most cases, there are two alleles (alternate forms of a gene) that control the expressions of a trait. However, many human traits result from multiple gene interactions. Alleles are sections of DNA that are located on the different chromosomes of a homologous pair. Humans have 46 chromosomes, 22 homologous pairs (similar shape and size, and code for similar genetic traits) and one pair of sex chromosomes. A dominant trait occurs when an allele masters or controls the alternate allele. For example, an individual with even one dominant allele from either parent would exhibit polydactyly and have six fingers. A widow’s peak hairline is also a dominant trait. The letter W could be used to symbolize the allele for widow’s peak hairline. Since the most simple inheritance patterns involve the transmission of one trait from the mom and one trait from the dad, all WW and Ww individuals would have a widow’s peak. Any allele that is not expressed is called recessive. Since a straight hairline is a recessive, the allele would be assigned a lowercase w. The only letter combination that would represent a straight hairline would be ww. This would mean that both parents contributed one w allele in the fertilization process. The combination of alleles inherited from your parents is called a genotype. When a person shows a dominant trait, they do not know exactly what their genotype is. The alleles could be identical. For example, a person could receive an unattached earlobe allele from both parents and produce an offspring with unattached earlobes. Since unattached earlobes are a dominant trait, the genotype would be EE. This combination of alleles is referred to as homozygous from the Latin words homo meaning same, and zygote, which is a cell formed at conception. Sometimes the alleles inherited from your parents differ. For example, you could receive an attached earlobe allele from your mother, but not your father. 6 Biology Institute 2004 In this case, your genotype would be Ee. This combination of alleles is referred to as heterozygous from the Latin words hetero meaning different, and zygote, which is a cell formed at conception. NOTES In a simple inheritance pattern involving only two alleles, the person who shows the recessive trait always knows his or her genotype because no dominant traits are present. So, an individual who has attached earlobes would have the genotype ee. A physical attribute, that is if a person exhibits attached ear lobes or earlobes that hang down, is called a phenotype. A phenotype is what you look like. In this learning experience, the student uses a key to engage in the process of linking letters to their own characteristics. Procedures: Teacher note: Emphasize to students that in this investigation we are assuming that human traits are an expression of a pair of alleles. In reality, most human traits are controlled by more than two alleles. 1. Have students complete the Fundamentally Genetics investigation pages. Teacher note: At this time, use the terms dominant, recessive, genotype, phenotype, homozygous, heterozygous, allele, and gene as you assist students. You may want to have examples of the genetic traits listed in the Fundamentally Genetics investigation pages to show students. 2. Have students report their results and construct charts or graphs of the frequencies of the dominant and recessive traits in the class. Formative Assessment: Monitor and redirect students as needed as they record their responses to the Fundamentally Genetics investigation pages. Answers will vary depending on the phenotype of individual students. The Charles A. Dana Center at UT Austin 7 Fundamentally Genetics Looking at Your Traits Are you dominant or recessive for the following traits? You and your group will have to look at each other to figure this out. Record your responses in the appropriate blanks. 1. Tasting Paper—Taste the paper. It contains a harmless chemical that some people can taste and others cannot. The ability to taste the chemical is a dominant trait. People who cannot taste this chemical are recessive for the trait. _____________________________ Dominant or Recessive 2. Tongue Rolling—Some people can roll their tongues into a taco- or U-shape. This is a dominant trait. If you cannot roll your tongue into a taco- or U-shape, you are recessive for this trait. _____________________________ Dominant or Recessive 3. Earlobes—It is a dominant trait to have earlobes that hang down. People who have earlobes attached directly to the side of their heads are recessive for this trait. _____________________________ Dominant or Recessive 4. Earbump—Some people have a bump on the inside rim of the upper part of the ear ridge called Darwin’s ear point. The bump is due to the presence of a dominant allele. If you are lacking the bump, you are recessive for this trait. _____________________________ Dominant or Recessive 5. Widow’s Peak—If you have a hairline that comes to a point in the middle of your forehead, you possess a dominant allele for widow’s peak. A straight or even hairline indicates that you are recessive for this trait. _____________________________ Dominant or Recessive 6. Hitchhiker’s Thumb—People who can bend the last joint of their thumbs back to a 90-degree angle are dominant for hitchhiker’s thumb. People who lack this ability are recessive for this trait. _____________________________ Dominant or Recessive 8 TEXTEAMS BIology Institute 2004 7. Polydactyly—People born with six fingers or toes possess the dominant trait for polydactyly. Having five fingers and toes is a recessive trait. In the U.S., people with extra toes or fingers usually have them removed shortly after birth. _____________________________ Dominant or Recessive 8. Syndactyly—Having webbed fingers and toes is a dominant trait. Sometimes only a pair of fingers or toes are webbed. If you have fingers and toes that separate, then you are recessive for this trait. _____________________________ Dominant or Recessive 9. Cleft Chin—If you have a chin that has a split in the middle like John Travolta’s, you have a cleft chin. This is a recessive trait. The absence of a cleft chin is a dominant feature. _____________________________ Dominant or Recessive 10. Hair Whorl—Have someone in your group look at the back of your head to determine if your hair whorls to the right (clockwise) or to the left (counterclockwise). If you use hairspray or gels on your hair, this activity may be a hard one to do. A clockwise whorl is dominant over the recessive trait of a counterclockwise whorl. _____________________________ Dominant or Recessive The Charles A. Dana Center at UT Austin 9 Describing Your Traits Now that you know the traits you exhibit—your phenotype—how do you describe them? The protocol is to use letters to describe genetic traits—your genotype. For example, an uppercase T can represent the dominant trait for tasting the tasting papers and a lowercase t the recessive trait for not tasting the tasting papers. In this learning experience, two letters are used to represent the traits because one comes from your mother and one from your father; however, traits sometimes are represented by more than two letters because more than two alleles are involved. The ABO alleles for blood type are an example of such a combination. Two letters also represent the gene, or DNA strand, for each of the 10 traits. So Tt also represents the gene for the ability to taste the tasting papers. Each letter represents an allele for each version of the gene—T for the version of being able to taste the tasting papers and t for the version of not being able to taste the tasting papers. An individual who receives a TT from their parents is described as homozygous for the ability to taste the tasting papers. An individual who receives Tt from their parents is described as heterozygous for the ability to taste the tasting papers. The heterozygous individual has two different letters, Tt, as compared with the homozygous individual who has two letters that are identical, TT. When you have a recessive trait, such as not being able to taste the tasting papers, your genotype is certain. The two pieces of genetic information you got from your parents are recessive and recessive. So the genotype will be two lowercase letters, tt. When you have a dominant trait, such as being able to taste the tasting papers, your genotype is not certain. The pieces of genetic information you got from your parents could be dominant and dominant, or dominant and recessive. So the genotype could be two uppercase letters, TT, or one uppercase and one lowercase letter, Tt. Use the following key to describe your phenotype and all your possible genotypes for each of the 10 traits. Record your responses in the appropriate blanks. 10 TEXTEAMS BIology Institute 2004 Key T—TASTING PAPER TASTER H—HITCHHIKER’S THUMB PRESENT t—nontasting paper taster h—hitchhiker’s thumb not present R—TONGUE ROLLER P—SIX FINGERS OR TOES r—nontongue roller p—five fingers or toes E—UNATTACHED EARLOBES S—WEBBED FINGERS OR TOES e—attached earlobes s—nonwebbed fingers or toes D—DARWIN’S EAR POINT PRESENT C—NON CLEFT CHIN d—Darwin’s ear point not present c—cleft chin W—WIDOW’S PEAK PRESENT L—CLOCKWISE HAIR WHORL w—widow’s peak not present l—counterclockwise hair whorl 1. Tasting Paper—Taste the paper. It contains a harmless chemical that some people can taste and others cannot. The ability to taste the chemical is a dominant trait. People who cannot taste this chemical are recessive for the trait. _________________________ ________________________ Phenotype Genotype 2. Tongue Rolling—Some people can roll their tongues into a taco- or U-shape. This is a dominant trait. If you cannot roll your tongue into a taco- or U-shape, you are recessive for this trait. _________________________ ________________________ Phenotype Genotype 3. Earlobes—It is a dominant trait to have earlobes that hang down. People that have earlobes attached directly to the side of their heads are recessive for this trait. _________________________ ________________________ Phenotype Genotype The Charles A. Dana Center at UT Austin 11 4. Earbump—Some people have a bump on the inside rim of the upper part of the ear ridge. It is called Darwin’s ear point. If you have the bump, it is due to the presence of a dominant allele. If you are lacking the bump, you are recessive for this trait. _________________________ ________________________ Phenotype Genotype 5. Widow’s Peak—If you have a hairline that comes to a point in the middle of your forehead, you possess a dominant allele for widow’s peak. A straight or even hairline indicates you are recessive for this trait. _________________________ ________________________ Phenotype Genotype 6. Hitchhiker’s Thumb—People who can bend the last joint of their thumbs back to a 90-degree angle are dominant for hitchhiker’s thumb. People who lack this ability are recessive for this trait. _________________________ ________________________ Phenotype Genotype 7. Polydactyly—People born with six fingers or toes possess the dominant trait for polydactyly. Having five fingers and toes is a recessive trait. In the U.S., people with extra toes or fingers usually have them removed shortly after birth. _________________________ ________________________ Phenotype Genotype 8. Syndactyly—Having webbed fingers and toes is a dominant trait. Sometimes only a pair of fingers or toes are webbed. If you have fingers and toes that separate, then you are recessive for this trait. _________________________ ________________________ Phenotype Genotype 9. Cleft Chin—If you have a chin that has a split in the middle, like John Travolta’s, you have a cleft chin. This is a recessive trait. The absence of a cleft chin is a dominant feature. _________________________ ________________________ Phenotype Genotype 10. Hair Whorl—Have someone in your group look at the back of your head to determine if your hair whorls to the right (clockwise) or to the left (counterclockwise). If you use hairspray or gels on your hair, this activity may be a hard one to do. A clockwise whorl is dominant over the recessive trait of a counterclockwise whorl. _________________________ ________________________ Phenotype Genotype 12 TEXTEAMS BIology Institute 2004 Dominant Fly NOTES Learning Experience 2 Description: Students determine the genotype and phenotype of fruit fly offspring. As noted in the chart below, students have prior knowledge of genetics from grades 6, 7, and 8. Grade 6 Grade 7 Grade 8 Biology 6.11 (C) 7.10 (C) 8.11 (C) 6 (D) Time Frame: 2 lessons (50 minutes each) Materials: Plastic twist-apart eggs (1 large and 1 small per student group) Ribbon strip, 10 cm (1 per student group) Hot glue gun (1 per class) Colored pencils (1 set per student group) White, unlined paper (1 sheet per student group) Insect Chromosomes Drawings (included in the Teacher Blackline Masters at the end of this vista) Dominant Fly investigation pages (included in the Student Blackline Masters at the end of this vista) Insect Parts Drawings (included in the Student Blackline Masters at the end of this vista) Advance Preparation: 1. Prepare a copy of the Dominant Fly investigation pages, the Insect Chromosomes Drawings, and the Insect Parts Drawings for each student group. 2. Prepare an egg and sperm for each student group by cutting apart the Insect Chromosomes Drawings and placing a complete set of father chromosomes in the smaller egg and a complete set of mother chromosomes in the larger egg. (Make sure each egg has one chromosome from the 4 pairs given in Insect Chromosomes Drawings 1-5. It will not matter which female or male egg the students receive.) Close the eggs. Glue the ribbon strip to the smaller egg to represent the tail of a sperm cell. There are five different combinations of chromosomes. The Charles A. Dana Center at UT Austin 13 NOTES Background Information for the Teacher: Thomas Morgan and others conducted experiments with the fruit fly Drosophila sp. that provided proof that genes are arranged linearly on chromosomes. This learning experience combines Gregor Mendel’s postulates: (1) individual factors that control gene traits occur in pairs, and (2) genes exhibit dominance or recessiveness. When students pair up mother and father insect genes, they learn how genes line up with each other. Chromosomes are made of DNA and protein. They are found in the nucleus of eukaryotic cells and are visible during mitosis and meiosis. Some students may not understand that it takes more than a single pair of chromosomes to make up a living organism—even a fruit fly has four pairs of chromosomes. In the insect genetics simulation, it takes all eight chromosomes to make an insect. Don’t be surprised if some students take a little time to realize that they need all of the chromosomes to make an insect, not just one or two chromosomes. The chromosomes that determine the sex of an organism are not an exact pair. Males are called hemizygous because they receive one X chromosome from the mother and one Y chromosome from the father. The term hemizygous refers to the condition of pairing two nonhomologous chromosomes together. Normal males have XY sex chromosomes. A normal female possesses two X chromosomes (XX). A normal female is homozygous with regard to sex chromosomes. Procedures: Have students complete the Dominant Fly investigation pages and the construction of the fly. Formative Assessment: Monitor student responses to the investigation pages, ensuring that they are correctly interpreting genotypes and phenotypes. 14 Biology Institute 2004 Dominant Fly investigation pages (correct student responses). Data Table 1 Trait Genotype Phenotype Head Size Hh Large head Eye Color Ee Red eye Antennae Pp Antennae present Data Table 2 Chromosome pair 1 Chromosome pair 2 Chromosome pair 3 Chromosome pair 4 Trait Genotype Homozygous or Heterozygous Dominant or Recessive Phenotype Head size Hh Heterozygous Dominant Large head Eye color Ee Heterozygous Dominant Red eye Antennae Pp Heterozygous Dominant Antennae present Thorax size tt Homozygous Recessive Long thorax Wing color Oo Heterozygous Dominant Orange wings Wing length WW Homozygous Dominant Short wings Leg length ll Homozygous Recessive Long legs Body color Bb Heterozygous Dominant Black body Abdomen size Aa Heterozygous Dominant Long abdomen Sex XY Hemizygous Not Applicable Male The Charles A. Dana Center at UT Austin 15 Also monitor the accuracy of the insect drawing. An example is shown below. NOTES 16 Biology Institute 2004 Insect Chromosomes—1 NOTES * Body color refers to antennae, head, thorax, abdomen, and legs. Insect Chromosomes—2 * Body color refers to antennae, head, thorax, abdomen, and legs. The Charles A. Dana Center at UT Austin 17 NOTES Insect Chromosomes—3 * Body color refers to antennae, head, thorax, abdomen, and legs. Insect Chromosomes—4 * Body color refers to antennae, head, thorax, abdomen, and legs. 18 Biology Institute 2004 Insect Chromosomes—5 NOTES * Body color refers to antennae, head, thorax, abdomen, and legs. The Charles A. Dana Center at UT Austin 19 Dominant Fly Genes that determine traits are encoded and arranged linearly on structures called chromosomes found in the nuclei of most cells. When organisms reproduce, the resulting offspring should receive an equal number of chromosomes from the mother and the father. Materials: Egg, sperm, Insect Parts drawings, colored pencils, unlined paper Procedures: 1. Use the chromosomes and the Insect Traits Key below to determine the genotype and phenotype of the offspring. Record the information in Data Table 1. Insect Traits Key H — LARGE HEAD E — RED EYE h — small head e — apricot eye P — ANTENNAE PRESENT p — antennae absent T — SHORT THORAX O — ORANGE WING W — SHORT WINGS t — long thorax o — green wings w — long wings A — SHORT ABDOMEN B — BLACK BODY* L — SHORT LEGS b — gray body* l — long legs a — long abdomen X X — Female X Y — Male 20 * Body color refers to antennae, head, thorax, abdomen, and legs. TEXTEAMS BIology Institute 2004 Data Table 1 Trait Genotype Phenotype Head Size Hh Large head Eye Color Antennae 2. Open the egg and sperm and examine the chromosomes. Pair up the chromosomes by matching the traits on them. Use the information on the chromosomes and in the Insect Traits Key to complete Data Table 2. Data Table 2 Trait Genotype Homozygous or Heterozygous Dominant or Recessive Hemizygous Not Applicable Phenotype Head size Chromosome pair 1 Eye color Antennae Thorax size Chromosome pair 2 Wing color Wing length Leg length Chromosome pair 3 Body color* Abdomen size Chromosome pair 4 Sex * Body color refers to antennae, head, thorax, abdomen, and legs. The Charles A. Dana Center at UT Austin 21 Insect Parts Now that you have the phenotype of your offspring, draw the fly by tracing and then coloring the correct Insect Parts on the unlined paper. 22 TEXTEAMS BIology Institute 2004 DNA, mRNA, and Protein Synthesis NOTES Learning Experience 3 Description: Students investigate the mechanics and structure of DNA, mRNA, and protein synthesis. As noted in the chart below, students have prior knowledge of genetics from grades 6. Grade 6 Grade 7 Grade 8 6.11 (B) Biology 6 (A)(B) Time Frame: 3–4 lessons (50 minutes each) Materials: Computer (1 per student group) Projection system (1 for the teacher) DNA, mRNA, and Protein Synthesis computer simulation investigation pages (included in the Student Blackline Masters at the end of this vista) DNA, mRNA, and Protein Synthesis paper/pencil investigation pages (included in the student Blackline Masters at the end of this vista) Advance Preparation: There are two ways students can do the Learning Experience 3 investigation: using paper/pencil or using the computer (either PC or Apple platform computer). Investigation pages for both methods are included in this Learning Experience. Prepare a copy of the appropriate version of the DNA, mRNA, and Protein Synthesis investigation pages for each student group. Background Information for the Teacher: DNA is composed of building blocks called nucleotides and is located in the nucleus of most cells. A nucleotide is composed of a deoxyribose (D), a phosphate (P), and a nitrogen base. The phosphate, deoxyribose, and nitrogen base are all connected by covalent bonds. A nucleotide is shown in Figure 1. The Charles A. Dana Center at UT Austin 23 NOTES Figure 1 The overall shape of the DNA molecule (see Figure 2) resembles a ladder twisted into a helix shape. Each vertical side of the ladder is made of alternating deoxyriboses (D) and phosphates (P). The left vertical side in Figure 2 begins with a phosphate and is called the 5’ (five prime) end. The right vertical side in Figure 2 begins with a deoxyribose and is called the 3’ (three prime) end. The rungs of the ladder consist of nitrogen bases connected to each other by hydrogen bonds. Nitrogen bases are of four types: adenine (A), thymine (T), cytosine (C), and guanine (G). Normally, because of its structure, adenine will bond only with thymine, and cytosine with guanine. When two nitrogen bases are joined together as complementary nucleotides, they are referred to as a base pair. A single human cell is estimated to have 3-5 billion base pairs! That’s approximately two meters of DNA. Figure 2 24 Biology Institute 2004 DNA Replication The function of DNA is to store and transmit genetic information. The genetic information stored in DNA functions as a blueprint for all cellular processes that occur in the lifetime of a living organism. During DNA replication, an exact copy of the original cell is made. Thus, skin cells are replaced with skin cells and muscle cells are replaced with muscle cells. NOTES When DNA replication begins, the hydrogen bonds holding the nitrogen bases together break, causing the helix to separate at various points along the ladder. These original strands will act as a template to form more DNA. Free-floating nucleotides come in and attach to the original strand. The DNA continues to separate, and more nucleotides float in and attach to the original strand. This process continues until each original strand has been replicated. On the strand beginning with deoxyribose, nucleotides are added one at a time from the 5’ to 3’ direction. However, the other strand waits until about 1,000 nucleotides are exposed and then adds a prefabricated block of nucleotides. Thus, one strand is built in a continuous manner while the other is built in a discontinuous manner (see Figure 3). Figure 3 Transcription It is the function of another nucleic acid, called messenger RNA (mRNA), to relay genetic information to the ribosomes. RNA is made when a strand of DNA is used as a template. This process is called transcription. The transcription process is basically the same as replication, except that nucleotides have ribose (R) instead of deoxyribose (hence, RNA instead of DNA), and the nitrogen base uracil (U) is substituted for thymine. The transfer of genetic information is relayed out of the nucleus by messenger RNA (mRNA) (see Figure 4). The RNA is modified to become a mRNA molecule. The Charles A. Dana Center at UT Austin 25 NOTES Translation As soon as a copy of mRNA is made, the copy exits the nucleus, moving through the cytoplasm to link up with a ribosome. The ribosome is a cellular structure that orchestrates the construction of a protein such as hemoglobin. The ribosome is composed of two subunits, one large and one small. As mRNA moves between the subunits, the nitrogen bases are scanned in groups of three. A group of three nitrogen bases is called a codon. When the start codon is recognized, protein synthesis is initiated. Transfer RNA (tRNA) brings the amino acids to the ribosome. The ribosome has docking space for two tRNAs at a time. The base of the tRNA contains three exposed nitrogen bases called an anticodon that matches up with a complementary codon of the mRNA (see Figure 5). As the various tRNA anticodons match up with the complementary codons of mRNA, a growing strand of amino acids (a polypeptide) is formed. The polypeptide will eventually become a protein. Figure 5 Procedures: Have students complete the DNA, mRNA, and Protein Synthesis investigation pages. Formative Assessment: Monitor and redirect student as needed during the construction of their drawings. 26 Biology Institute 2004 DNA, mRNA, and Protein Synthesis computer simulation In this investigation, use the PC or Apple™ platform computer to draw DNA, mRNA, and tRNA, and simulate protein synthesis. The instructions are the same for either platform; however, the toolbars will be in different locations. Before beginning, you must activate the Drawing tool by pulling down the View menu in MicroSoft Word™, highlighting “Toolbar,” and selecting “Drawing.” The Drawing Toolbar should appear on the computer screen (see Figure 1). Figure 1 DNA DNA is composed of building blocks called nucleotides and is located in the nucleus of most cells. A nucleotide is composed of a deoxyribose (D), a phosphate (P), and a nitrogen base. The phosphate, deoxyribose, and the nitrogen base are all connected by covalent bonds. A nucleotide is shown in Figure 2. The Charles A. Dana Center at UT Austin 27 Figure 2 The overall shape of the DNA molecule resembles a ladder twisted into a helix shape. Each vertical side of the ladder is made of alternating deoxyriboses (D) and phosphates (P). The rungs of the ladder consist of nitrogen bases connected to each other by hydrogen bonds. Nitrogen bases are of four types: adenine (A), thymine (T), cytosine (C), and guanine (G). Normally, because of its structure, adenine will bond only with thymine, and cytosine with guanine. Four nucleotides are shown in Figure 3. Figure 3 Drawing DNA To draw DNA, you must select several shapes to represent the different parts of DNA: the four different nitrogen bases, phosphate, and deoxyribose. Nitrogen bases. Using the Drawing Toolbar, click on “AutoShapes,” select “block arrows,” then select the chevron to represent adenine and the pentagon to represent thymine. 28 TEXTEAMS BIology Institute 2004 Click on “AutoShapes,” select “flowchart,” then select “flowchart delay” to represent cytosine and “flowchart data” to represent guanine. The Charles A. Dana Center at UT Austin 29 Phosphate. Using the Drawing Toolbar, click on “Basic Shapes,” select “oval” to represent phosphate. Place the mouse arrow over the edge of the oval and then click and drag the edge toward the center of the oval to reduce its size and reshape it to a circle. Deoxyribose. Using the Drawing Toolbar, click on “AutoShapes,” and select “block arrows,” then select “pentagon” to represent deoxyribose. Nucleotide. Arrange one of the shapes for the nitrogen bases, a phosphate, and a deoxyribose to create a nucleotide. Assemble the nucleotide according to Figure 4. 30 TEXTEAMS BIology Institute 2004 Figure 4 Lines. Click on the diagonal line in the Drawing Toolbar, which causes the cursor to be replaced by a cross. Place the center of the cross where the line is to start and hold the mouse button down while dragging the line to its ending point. If you are having trouble controlling the start or end point of the line and it extends into the object, click on “Draw,” order, and send to back. This will hide the ends of the line behind the shape. To move the line in very small increments, click on “Draw”, grid, and “click” to remove the check mark from snap objects to grid. Use the up and down arrows on the keyboard to move the line in very small increments. Figure 5 The Charles A. Dana Center at UT Austin 31 Changing the Appearance of a Shape. To select a fill color for the nucleotide components, click on the shape, then click on the arrow to the right of the fill color paint bucket in the Drawing Toolbar and click on ONE of the following choices: 32 • A color box • Select “More Fill Colors” for additional color choices • Select “Fill Effects” and choose a texture or pattern • Combine color and “Fill Effects” for more possibilities. Select “Fill Effects” ® “Pattern” ® “foreground color” and/or “background color” TEXTEAMS BIology Institute 2004 Figure 6 Labeling the Shapes. After the color of the shape has been selected, the nucleotide can be labeled. To add text for the first time, click the text box on the Drawing Toolbar, drag a text box into the desired area, and type in the text. To change the size of the text, highlight the text and change the font size. Clicking on the font color icon and selecting a new color changes the color of the letter. To make the box lines disappear, right click on one of the textbox lines, select “format text box,” “then color” (no fill) and “line color” (no line). Click OK. Figure 7 Grouping Shapes Together. When using the Drawing tool to construct a DNA or RNA molecule, it is helpful to group the shapes and lines together. To group the shapes and lines, left click on the white arrow on the Toolbar. While the left mouse button is depressed, drag a box around the items to be grouped. Left click on the “Draw” button and select “Group.” The Charles A. Dana Center at UT Austin 33 Copying the Nucleotide. Once the shapes and lines have been grouped together, the nucleotide can be copied and pasted as many times as needed. To create additional nucleotides with different nitrogen bases, simply ungroup an existing nucleotide and change the nitrogen base. The nucleotide can be ungrouped by clicking “Ungroup”. Base Pairing Arrangement of DNA. There are four nitrogen bases found in a DNA molecule: adenine, thymine, cytosine, and guanine. The nitrogen bases are held together by hydrogen bonds. Adenine pairs with thymine, and the two are held together by two hydrogen bonds. Guanine pairs with cytosine, and the two are held together by three hydrogen bonds. Use what you have learned to create a model of a DNA molecule. To add the hydrogen bonds shown by the dotted lines, first use the line tool to draw the lines. While the line is still selected, click on the dash style tool and select a dash pattern. 34 TEXTEAMS BIology Institute 2004 DNA Replication The function of DNA is to store and transmit genetic information. The genetic information stored in DNA functions as a blueprint for all cellular processes that occur in the lifetime of a living organism. During DNA replication, an exact copy of the original cell is made. Thus, skin cells are replaced with skin cells, and muscle cells are replaced with muscle cells. When DNA replication begins, the hydrogen bonds holding the nitrogen bases together break, causing the helix to separate at various points along the ladder. These original strands will act as a template to form more DNA. Free-floating nucleotides come in and attach to the original strand. The DNA continues to separate, and more nucleotides float in and attach to the original strand. This process continues until each original strand has been replicated. Draw a model of DNA using Figure 8 as a guide. Print it for the teacher. Figure 8 DNA and mRNA Transcription DNA remains in the nucleus, so the transfer of genetic information is relayed by another molecule, messenger RNA (mRNA). This molecule is made when DNA is used as a template in a process called transcription. The process is basically the same as replication, except that the nucleotides have ribose (R) instead of deoxyribose (hence, RNA instead of DNA) and the nitrogen base uracil (U) is substituted for thymine. To create an mRNA molecule showing transcription, copy the left side of the DNA molecule. To do this, use the white arrow on the Toolbar to draw a box around the part of the molecule to be copied, click on “Draw,” then group. While the objects are still selected, copy them. Paste the left side of the DNA molecule in your selected location, then build the mRNA nucleotides. Use Figure 9 as a model. Print it. The Charles A. Dana Center at UT Austin 35 Figure 9 Translation While still in the nucleus, the RNA strand is processed and becomes a strand of mRNA. The mRNA leaves the nucleus and travels to the cytoplasm where it links up with a ribosome. Molecules of tRNA will bring amino acids to the ribosome, based on the mRNA code. The growing amino acid chain becomes a protein. Draw a model of protein synthesis. Figure 10 36 TEXTEAMS BIology Institute 2004 DNA, mRNA and Protein Synthesis (paper/pencil) Complete the model of DNA below by drawing the missing nitrogen bases in the nucleotides. Label the structures, design an identification key, and then color the DNA structures based on the key. The Charles A. Dana Center at UT Austin 37 DNA Replication Use the same DNA sequence from the DNA model on the first page to simulate how DNA replicates itself. During replication, the hydrogen bonds between the nitrogen bases are broken and the molecule splits apart at various points along the ladder. Nucleotides attach to the complementary base of the original strand. This continues until all segments of DNA have been copied. The result is two DNA molecules, each composed of an original strand and a newly formed strand. Complete the model of DNA replication below by drawing the missing nitrogen bases in the nucleotides. Show covalent bonding between the phosphate and deoxyribose, and the deoxyribose and the base. Show hydrogen bonding between the nitrogen bases. There are two hydrogen bonds between adenine and thymine, and three hydrogen bonds between cytosine and guanine. Label and color each part of the DNA replication using the same identification key you designed for the DNA model. ����������� ��������� ������� ������� �������� ������������� ������� ������������� ��������������������� ��������� ��������������������� 38 ��������� ������������ ��������� ������������ ��������� ��������������������� TEXTEAMS BIology Institute 2004 Transcription It is the function of another nucleic acid, called messenger RNA (mRNA), to relay genetic information to the ribosomes. RNA is made when a strand of DNA is used as a template. This process is called transcription. The transcription process is basically the same as replication, except that nucleotides have ribose (R) instead of deoxyribose (hence, RNA instead of DNA), and the nitrogen base uracil (U) is substituted for thymine. The transfer of genetic information is relayed out of the nucleus by messenger RNA (mRNA). The RNA is modified to become an mRNA molecule. Complete the model of transcription below by drawing the missing nitrogen bases in the mRNA nucleotides. Show hydrogen bonding between the nitrogen bases. There are two hydrogen bonds between adenine and uracil, and three hydrogen bonds between cytosine and guanine. Label and color each part of the transcription process using the same identification key you designed for the DNA model. ��� ����������� ������� �������� ������������� ������ ��������� ������� ������� ������ �� �� ��� ���� �� �� The Charles A. Dana Center at UT Austin 39 Translation Once mRNA leaves the nucleus, it travels through the cytoplasm to a ribosome. The mRNA inserts itself between the subunits of a ribosome and the ribosome reads the mRNA, three nitrogen bases at a time. Three nitrogen bases together are referred to as a codon. At the same time, transfer RNA (tRNA) brings the amino acid specified by the mRNA to the ribosome. When the start codon (AUG) is read, protein synthesis begins and continues until a stop codon is read. The amino acids brought in by the tRNA are bonded together one at a time and continue until the process is completed. Copy the mRNA sequence from your transcription model onto the mRNA strand inside the box. Label and color each part of the translation using the same identification key you designed for the DNA model. ��� ����������� ������� �������� ������������� ������ ��������� ������� ������� ������ ���� �� 40 �� ���� TEXTEAMS BIology Institute 2004 Protein Synthesis: Like a Banana Split NOTES Learning Experience 4 Description: Students analyze the relationships among DNA, mRNA, and protein synthesis through a simulation. As noted in the chart below, students have prior knowledge of genetics from grade 6. Grade 6 Grade 7 6.11 (C) Grade 8 Biology 6 (A)(B) Time Frame: 50 minutes Materials: Banana split ingredients, i.e., bananas; vanilla, chocolate, and strawberry ice cream; three different toppings; three different types of whipped cream; and cherries (sufficient amounts for the number of students in the class - OPTIONAL) Bowls for the banana splits (enough for the number of students in the class - OPTIONAL) Line drawings of banana split ingredients (included in the Teacher Blackline Masters at the end of this vista) DNA Strands (included in the Teacher Blackline Masters at the end of this vista) mRNA Genetic Code Wheel (included in the Student Blackline Masters at the end of this vista) mRNA Genetic Code Chart (included in the Student Blackline Masters at the end of this vista) Protein Synthesis: Like a Banana Split investigation pages (included in the Student Blackline Masters at the end of this vista) Advance Preparation: 1. Prepare a copy of the Protein Synthesis: Like a Banana Split investigation pages for each student group. 2. Purchase sufficient amounts of bowls; bananas; vanilla, chocolate, and strawberry ice cream; three different toppings; three different types of whipped cream; and cherries. The Charles A. Dana Center at UT Austin 41 NOTES 3. Prepare a copy of the line drawings of the banana split ingredients and attach them to the corresponding purchased ingredients. Display them so that students can easily see them. Prepare a copy of the stop sign and set it up at the end of the banana split ingredients. Teacher note: Making actual banana splits is an optional part of this learning experience. You can forego using food items, and simply use the line drawings of banana split ingredients provided in the Teacher Blackline Masters. 4. Prepare a copy of one of the DNA strands for each student group. Background Information for the Teacher: A protein consists of a variety of amino acids linked together in an arrangement that is specified by DNA. A banana split can be used as an analogy for a protein in that it, too, consists of a number of ingredients placed together in an arrangement specified by a recipe. Just as there are many types of proteins, there are different types of banana splits. Both a mRNA Genetic Code Chart and Wheel are included in this learning experience. It is best if students are proficient in using both the chart and wheel. To practice reading the Genetic Code Wheel, use the first mRNA sequence, AGU, in Data Table 1 in the investigation pages. The first letter in the sequence is “A,” so start in the center circle of the wheel with the letter “A.” The second nitrogen base of the codon is “G,” so move out into the second circle from the center into the area marked “G.” Next, move to the third circle from the center into the “U” area. The name of the amino acid is located in the outermost circle. In this case, it is serine (see the example below the mRNA Genetic Code Wheel). To practice reading the mRNA Codon Chart, use the mRNA codon, AGU, in Data Table 1 in the investigation pages. On the left hand side of the chart locate the letter “A”. Move to the top of the chart and locate the letter “G”. Find the area where “A” row intersects the “G” column, notice the four letters to the right of that section. Locate the letter “U” on the right hand side next to the section where “A” and “G” intersected. The name of the amino acid coded by AGU is serine. Make sure students understand that they read the chart left to right. They should find where the left hand row intersects with the top column and then move to the right to locate the last base in the codon. SAFETY: Use caution when foods are part of laboratory investigations. Food allergies can be a problem with some students. Procedures: Have groups complete the steps on the Protein Synthesis: Like a Banana Split investigation pages. Formative Assessment: Monitor, and redirect as needed, student use of the mRNA Genetic Code Chart or the mRNA Genetic Code Wheel and responses to the investigation pages. 42 Biology Institute 2004 Protein Synthesis: Like a Banana Split (correct student responses) NOTES Data Table 1 [student responses] DNA mRNA AMINO ACID 1. TCA AGU Serine 2. CCC GGG Glycine 3. TAC AUG Methionine 4. GGA CCU Proline 5. CTC GAG Glutamic acid 6. TAA AUU Isoleucine 7. ACC UGG Tryptophan 8. CGC GCG Alanine 9. CGT GCA Alanine 10. ATT UAA Stop 11. AAA UUU Phenylalanine 12. TTA AAU Lysine 13. CCA GGU Glycine 14. TTT AAA Aspargine 2. Name five amino acids listed on the mRNA Genetic Code Chart or the mRNA Genetic Code Wheel. [Answers will vary.] 3. Name five ingredients used in a banana split. [Answers will vary.] 4. Use the mRNA Genetic Code Chart or the mRNA Genetic Code Wheel to list ALL possible mRNA sequences for the amino acids shown in the segment of hemoglobin below. The Charles A. Dana Center at UT Austin 43 Data Table 2 NOTES Valine Histidine Leucine Threonine Proline Glutamic Acid GUA CAC CUA ACA CCA GAA GUG CAU CUG ACG CCG GAG GUC CUC ACC CCC GUU CUU ACU CCU 5. Examine the mRNA sequences for each amino acid recorded in Data Table 2. What do you notice about them? [First two letters are the same, but the third is different.] 6. Suggest reasons for the fact that there are several ways to produce the amino acids that build hemoglobin. [This is an example of the redundancy of the genetic code; this variation in the third position of the triplet is a source of genetic variation.] 7. Using the DNA strand, decode the ingredients for a banana split recipe. Apply your knowledge of DNA transcription, translation, and the mRNA Genetic Code Table or the mRNA Genetic Code Wheel to complete the table. Use Data Table 3. [Answers will vary.] Data Table 3 DNA 44 mRNA Amino Acid tRNA Banana Split Ingredient Biology Institute 2004 8. Build your own banana split recipe. Use your knowledge of DNA transcription and translation and the mRNA Genetic Code Chart or the mRNA Genetic Code Wheel to decode it. Use Data Table 4. [Answers will vary.] NOTES Data Table 4 DNA mRNA Amino Acid tRNA Banana Split Ingredient NOTE: Prior to starting the activity list the tRNA anticodons and corresponding banana split ingredients on the board. The following list is provided an example. Your list will depend on the ingredients you purchase UAC-bowl; AUG – banana; UGG – Chocolate Ice Cream; CAA – Vanilla Ice Cream; CCC – Chocolate Syrup; CUA – Vanilla Whip Cream; UAU – cherry; CGU – plain whip cream; ACC – chocolate whip cream; AGA – caramel syrup; CAG – sprinkles; ACU - Stop The Charles A. Dana Center at UT Austin 45 ��������� ��� ������� ����� ��� ��� ��� ������ �������� ���� ��� ��� ��� ��� ��� ��� ��� NOTE: These are tRNA anticodons. 46 TEXTEAMS BIology Institute 2004 DNA Strands NOTES TACC A A AGAC TATATAC T TAC ATG C A A ACC TATAC T TACC A ATG G CCCC G TAC T TAC ATG TG G C AG C TA AC T TACCAATGGCCCCTAACT TAC ATG C A A ACC TATAC T TACC A A AGA ACC TATAC T TAC ATG TG G CCCC TA AC T The Charles A. Dana Center at UT Austin 47 mRNA Genetic Code Wheel 48 TEXTEAMS BIology Institute 2004 mRNA Genetic Code Chart 2nd Base U U A G A G Phenylalanine Serine Tyrosine Cysteine Phenylalanine Serine Tyrosine Cysteine Leucine Serine stop stop Leucine Serine stop Tryptophan Leucine Proline Histidine Arginine Leucine Proline Histidine Arginine Leucine Proline Glutamine Arginine Leucine Proline Glutamine Arginine Isoleucine Threonine Asparagine Serine Isoleucine Threonine Asparagine Serine Isoleucine Threonine Lysine Arginine Methionine Threonine Lysine Arginine Valine Alanine Aspartic Acid Glycine Valine Alanine Aspartic Acid Glycine Valine Alanine Glutamic Acid Glycine Valine Alanine Glutamic Acid Glycine The Charles A. Dana Center at UT Austin U C A G U C A G U C A G 3rd Base 1st Base C C U C A G 49 Protein Synthesis: Like a Banana Split 1. Complete Data Table 1 using your knowledge of DNA transcription and the mRNA Genetic Code Wheel or chart. Data Table 1 DNA mRNA AMINO ACID TCA AGU Serine CCC Glycine Methionine GGA CCU GAG TAA Glutamic acid Isoleucine Tryptophan CGC GCG CGT GCA ATT AAA UUU TTA Lysine CCA Glycine TTT 2. Name five amino acids listed on the mRNA Genetic Code Chart or the mRNA Genetic Code Wheel. 3. Name five ingredients used in a banana split. 4. Use the mRNA Genetic Code Chart or the mRNA Genetic Code Wheel to list ALL possible mRNA sequences for the amino acids shown in this segment of hemoglobin below. 50 TEXTEAMS BIology Institute 2004 Data Table 2 Valine Histidine Leucine Threonine Proline Glutamic Acid 5. Examine the mRNA sequences for each amino acid recorded in Data Table 2. What do you notice about them? 6. Suggest reasons for the fact that there are several ways to produce the amino acids that build hemoglobin. 7. Using the DNA strand, decode the ingredients for a banana split recipe. Apply your knowledge of DNA transcription, translation, and the mRNA Genetic Code Chart or the mRNA Genetic Code Wheel to complete the table. Use Data Table 3. Data Table 3 DNA mRNA The Charles A. Dana Center at UT Austin Amino Acid tRNA Banana Split Ingredient 51 8. Build your own banana split recipe. Use your knowledge of DNA transcription and translation and the mRNA Genetic Code Table or the mRNA Genetic Code Wheel to decode it. Use Data Table 4. Data Table 4 DNA 52 mRNA Amino Acid tRNA Banana Split Ingredient TEXTEAMS BIology Institute 2004 The Human Genome NOTES Learning Experience 5 Description: Students examine the distribution of alleles in human populations. As noted in the chart below, students have prior knowledge of genetics from grades 6, 7, and 8. Grade 6 Grade 7 Grade 8 Biology 6.11 (A) 7.10 (B) 8.11 (A)(B)(C) 6 (C)(D) Time Frame: 50 minutes Materials: The Human Genome investigation pages (included in the Student Blackline Masters at the end of this vista) come from the National Human Genome Research Institute and the National Institutes of Health. For more information, visit http://www.nhgri.nih.gov/educationkit/ Advance Preparation: Prepare a copy of The Human Genome investigation pages for each student group. Background Information for the Teacher: In 1990, the National Institutes of Health and the Department of Energy joined with international partners to begin a worldwide effort to map and sequence the genome of humans and certain model organisms. This effort, known as the Human Genome Project (HGP), was completed in 2003. As genomic information was collected, it was placed into databases that are shared within the research community. These databases are used to study cancer, diabetes, and other common diseases. Hopefully, the information from the Human Genome Project will lead to the development of new drug therapies, gene therapy, and diagnosis and prevention of certain diseases. Other goals of the HGP are to develop new technologies and software that make mapping and sequencing of the genome more efficient and less expensive, and to study the ethical, legal, and social implications of genetic research. The Human Genome Project has also examined genetic variation in human populations by analyzing the DNA of groups of people from around the world. One example is the investigation of three different alleles for blood protein, GC-1, HP-1, and FY-O. The GC-1 allele provides the code for a protein that attaches to and regulates the distribution of vitamin D in the The Charles A. Dana Center at UT Austin 53 NOTES human body. The HP-1 allele provides the code for haptoglobin, a protein that attaches itself to the hemoglobin released by red blood cells when they die a natural death or are destroyed by a disease such as malaria. The FY gene provides the code for a blood protein found on the surface of red blood cells. This protein makes it easier for the malarial parasite Plasmodium vivax to multiply in red blood cells and cause malaria. However, the FY-O allele results in the absence of this protein, making it difficult for the parasite to gain entry into the red blood cells to multiply. Therefore, the FY-O allele provides a selective advantage in parts of the world where Plasmodium vivax malaria is common. This advantage accounts for the high frequency of the FYO allele in those regions. Procedures: Have students complete The Human Genome investigation pages. Formative Assessment: Monitor student responses to The Human Genome investigation pages. The Human Genome Investigation pages (correct student responses) Table 1 GC-1 HP-1 FY-O Africa 88% 42% 96% Asia & Middle East 0% 40% 3% Australia 83% 27% 0% Europe 0% 38% .3% North America 73% 32% 0% South America 76% 60% .2% 1. What is the range of frequencies for each allele shown? [GC-1 is 0%– 88%, HP-1 is 27%–60%, FY-0 is 0%–96%.] 2. On a worldwide basis, which allele varies the most in frequency? [FY0] 3. On a worldwide basis, which allele varies the most in distribution across the continents? [HP-1] 4. Examine Map 1 showing the occurrence of the malarial parasite Plasmodium vivax. What inference can be made concerning the occurrence of Plasmodium vivax and the variation in the frequency of the FY-O allele in human populations? [The FY-0 allele provides a protective advantage in areas where malaria is common.] 54 Biology Institute 2004 The Human Genome In 1990, the National Institutes of Health and the Department of Energy joined with international partners to begin a worldwide effort to map and sequence the genome of humans and certain model organisms. This effort, known as the Human Genome Project (HGP), was completed in 2003. As genomic information was collected, it was placed into databases and shared within the research community. These databases are used to study cancer, diabetes, and other common diseases. The Human Genome Project has also examined genetic variation in human populations by analyzing the DNA of groups of people from around the world. One example is the investigation of three different alleles for blood protein, GC-1, HP-1, and FY-O. The GC-1 allele provides the code for a protein that attaches to and regulates the distribution of vitamin D in the human body. The HP-1 allele provides the code for haptoglobin, a protein that attaches itself to the hemoglobin released by red blood cells when they die a natural death or are destroyed by a disease such as malaria. The FY gene provides the code for a blood protein found on the surface of red blood cells. This protein makes it easier for the malarial parasite Plasmodium vivax to multiply in red blood cells and cause malaria. However, the FY-O allele results in the absence of this protein, making it difficult for the parasite to gain entry into the red blood cells to multiply. Therefore, the FY-O allele provides a selective advantage in parts of the world where Plasmodium vivax malaria is common. This advantage accounts for the high frequency of the FY-O allele in those regions. Use the maps below to identify the genetic frequency (as a percent) of the three different alleles (GC-1, HP-1, and FYO) in the world’s populations. Record the frequency of each allele on each continent in Table 1. Occurrence of GC-1 allele 73% 88% 76% The Charles A. Dana Center at UT Austin 83% 55 Occurrence of HP-1 allele 38% 73% 32% 17% 42% 60% 27% Occurrence of FY-O allele .3% 0.2% 96% 3% 0% From the National Human Genome Research Institute and the National Institutes of Health. For more information visit http://www.nhgri.nih.gov/educationkit/ 56 TEXTEAMS BIology Institute 2004 Table 1 GC-1 HP-1 FY-O Africa Asia & Middle East Australia Europe North America South America 1. What is the range of frequencies for each allele shown? 2. On a worldwide basis, which allele varies the most in frequency? 3. On a worldwide basis, which allele varies the most in distribution across the continents? 4. Examine Map 1 showing the occurrence of the malarial parasite Plasmodium vivax. What inference can be made concerning the occurrence of Plasmodium vivax and the variation in the frequency of the FY-O allele in human populations? Map 1 Occurrence of Malarial Parasite Plasmodium vivax The Charles A. Dana Center at UT Austin 57 NOTES Assessment Task: Inheritance of Sickle-Cell Anemia Materials: Paper strips depicting the two strands of a DNA molecule, 50 cm (2 per student group) Blank paper strips, 50 cm (3 per student group) Markers or colored pencils (4 different colors per student group mRNA Genetic Code Chart/Wheel (used in Learning Experience 4) Inheritance of Sickle-Cell Anemia Assessment Task pages (included in the Student Blackline Masters at the end of this vista) Advance Preparation: 1. Collect materials as needed. Adding machine paper could be used for the paper strips. Cut the strips of paper in lengths of 50cm each. 2. To illustrate a DNA molecule using two paper strips for each team, you will use the following 5’ to 3’ strand of DNA to represent a portion of the hemoglobin gene. On one strip, copy this side of the base sequence using blue pencil or marker: 5’ TAC CAA GTA AAT TGA GGA CTC CTC TTT ACT 3’ 3. On a second strip, copy the complentary base sequence using red pencil or marker. 3’ATG GTT CAT TTA ACT CCT GAG GAG AAA TGA 5’ 4. Prepare copies of the Inheritance of Sickle-Cell Anemia Assessment Task pages. Procedures: Have students prepare copies of the Inheritance of Sickle-Cell Anemia Assessment Task pages. Inheritance of Sickle-Cell Anemia Assessment Task pages (correct student responses): Part 1 1. Your teacher will give you two strips of paper (one written in blue, the other written in red) that represent a DNA molecule. This DNA molecule represents a portion of the normal gene for the protein hemoglobin. Why are two strips, not one, needed to represent DNA? [Because DNA is double-stranded] 58 Biology Institute 2004 2. Use these two strips to make an exact copy of the DNA molecule given to you. NOTES (A) Describe what you just did to make a copy. [“Unzipped” the DNA wrote one new strand to be complementary to one side of the original molecule, wrote the other new strand to be complementary to the other side of the original molecule, and matched up the two new sides to create an exact copy of the original molecule.] (B) What is this process called? [Replication] 3. What do the four letters on the DNA molecule represent? [Nitrogen bases] 4. What is the significance of the 3’ to 5’ direction on each strand? [New DNA is synthesized beginning at the 3’ end] 5. Select the 5’ to 3’ coding strand (the blue strand) of your DNA molecule. Then, obtain one blank strip of paper from your teacher. On the blank strip, write the mRNA base sequence in a third color. (A) What is the mRNA coding sequence on your strip? [AUG GUU CAU UUA ACU CCU GAG GAG AAA UGA] (B) What does this base sequence represent? [The mRNA base sequence for a portion of normal hemoglobin gene] (C) What step of protein synthesis did you just perform? [Transcription] (D) Why must the DNA message go through this step? [DNA cannot leave the cell’s nucleus to direct protein synthesis, but mRNA can.] (E) Name the two structural differences of DNA and mRNA. [In RNA, uracil replaces thymine; DNA is double stranded, RNA is single stranded.] 6. Using your mRNA strip, demonstrate the process of converting the information in mRNA to tRNA. (A) Describe in detail what you just did in this process. [Attached the first codon of the mRNA strand to the ribosome, found the anticodon that fit with the mRNA codon, translated the mRNA codons to the correct amino acid, slid the mRNA along the ribosome to the next codons and found the anticodons that fit them, and constructed a chain of amino acids to make a protein.] (B) What step of protein synthesis did you just complete? [Translation] Part 2 1. Observe the drawings of normal human red blood cells (RBCs) and sickle-shaped red blood cells (RBCs). (A) Describe the differences between the two types of RBCs. [The normal human red blood cells have a smooth, disc-shaped appearance. The sickle-shaped red blood cells have an irregular appearance and are shaped like crescents or half-moons.] (B) What physiological functions might be affected by the shape of the sickled cells? [The sickled cells cannot easily travel through narrow blood capillaries.] The Charles A. Dana Center at UT Austin 59 NOTES 2. Hemoglobin consists of four polypeptide chains: two alpha chains and two beta chains. Normal hemoglobin is called hemoglobin A. The hemoglobin that produces sickle cells is called hemoglobin S. Since the protein hemoglobin is made of two kinds of polypeptide chains, how is it possible that there could be two forms of this protein? [The “hemoglobin A” and “hemoglobin B” forms of hemoglobin must differ with regard to the structure of one of the two different kinds of polypeptide chains.] 3. In Part 1, you found the mRNA coding sequence for the first nine amino acids that code for hemoglobin. Here is the sequence for the first nine amino acids found in the mutated form of hemoglobin that causes sickle-cell anemia: start meth—val—his—leu—thr—pro—val—glu—lys What is a mutation? [A mutation is a change in DNA or in a chromosome.] 4. Locate the difference(s) between the normal hemoglobin DNA sequence and the mutated sickle-cell hemoglobin. Use the figure below to see how the mutation occurred and to find the mutation on the DNA molecule. start meth val his leu thr pro glu glu lys AUG GUU CAU UUA ACU CCU GAG GAG AAA — normal mRNA TAC CAA GTA AAT TGA GGA CTC CTC TTT — normal DNA start meth AUG TAC val his leu thr pro val glu lys GUU CAU UUA ACU CCU GUG GAG AAA — mutated mRNA CAA GTA AAT TGA GGA CAC CTC TTT — mutated DNA Describe in detail what you just did in this process. [In normal hemoglobin, the normal amino acid is glutamine. In sickle-cell hemoglobin, the mutated amino acid is valine. Using the Genetic Coding Chart or wheel to determine which DNA codon(s) code for valine, it shows that the DNA codons CAA, CAG, CAT, or CAC code for valine. Using the Chart/Wheel also makes it possible to determine that the mRNA codons GUA, GUC, GUG, or GUU code for valine. The DNA codons GTT and GTC code for glutamine, as do the mRNA codons GAA or GAG.] 60 Biology Institute 2004 Assessment Task: Inheritance of Sickle Cell Anemia Your team has received the following letter: Dear DNA Team: My name is Dr. Ilene Martin and I specialize in obstetrics. While I have much experience at helping my patients and their husbands through a pregnancy, I am not an expert in many of the genetic concerns that couples have before they get pregnant. I am aware that people on your DNA Team have a broad and thorough understanding of how the DNA molecule works and can explain those workings to people in everyday language that they can understand. George and Beatrice Jackson are patients of mine who are considering starting a family. Both George and Beatrice have family members with sickle-cell anemia, so you can see their concern.They want to become fully informed regarding how DNA works and how it codes to make the normal form of the protein hemoglobin.They also would like a full explanation of what goes wrong with the DNA to cause a person to have sickle-cell anemia. I would like for your DNA team to explain the workings of DNA and how sickle-cell anemia gets passed on to future generations. Please let me know if this is possible. Thank you, Dr. Ilene Martin Your task is to develop models and clear explanations to help Dr. Martin’s patients learn how DNA works, how it codes to make normal hemoglobin, and what can go wrong with the DNA to cause sickle-cell anemia. Safety precautions None required. The Charles A. Dana Center at UT Austin 61 Part 1 1. Your teacher will give you two strips of paper (one written in blue, the other written in red) that represent a DNA molecule. This DNA molecule represents a portion of the normal gene for the protein hemoglobin. Why are two strips, not one, needed to represent DNA? 2. Use these two strips to make an exact copy of the DNA molecule given to you. (A) Describe what you just did to make a copy. (B) What is this process called? 3. What do the four letters on the DNA molecule represent? 4. What is the significance of the 3’ to 5’ direction on each strand? 5. Select the 5’ to 3’ coding strand (the blue strand) of your DNA molecule. Then, obtain one blank strip of paper from your teacher. On the blank strip, write the mRNA base sequence in a third color. (A) What is the mRNA coding sequence on your strip? (B) What does this base sequence represent? (C) What step of protein synthesis did you just perform? (D) Why must the DNA message go through this step? 62 TEXTEAMS BIology Institute 2004 (E) Name the two structural differences of DNA and mRNA. 6. Using your mRNA strip, demonstrate the process of converting the information in mRNA to tRNA. (A) Describe in detail what you just did in this process. (B) What step of protein synthesis did you just complete? Part 2 1. Observe the drawings of a normal human red blood cells (RBCs) and a sickle-shaped red blood cells (RBCs). �������������� ����������� (A) Describe the differences between the two types of RBCs. (B) What physiological functions might be affected by the shape of the sickled cells? The Charles A. Dana Center at UT Austin 63 2. Hemoglobin consists of four polypeptide chains: two alpha chains and two beta chains. Normal hemoglobin is called hemoglobin A. The hemoglobin that produces sickle cells is called hemoglobin S. Since the protein hemoglobin is made of two kinds of polypeptide chains, how is it possible that there could be two forms of this protein? 3. In Part 1, you found the mRNA coding sequence for the first nine amino acids that code for hemoglobin. Here is the sequence for the first nine amino acids found in the mutated form of hemoglobin that causes sickle-cell anemia: start meth—val—his—leu—thr—pro—val—glu—lys What is a mutation? 4. Locate the difference(s) between the normal hemoglobin DNA sequence and the mutated sickle-cell hemoglobin. Use the figure below to see how the mutation occurred and to find the mutation on the DNA molecule. start meth val his leu thr pro glu glu lys AUG GUU CAU UUA ACU CCU GAG GAG AAA — normal mRNA TAC CAA GTA AAT TGA GGA CTC CTC TTT — normal DNA start meth AUG TAC val his leu thr pro val glu lys GUU CAU UUA ACU CCU GUG GAG AAA — mutated mRNA CAA GTA AAT TGA GGA CAC CTC TTT — mutated DNA Describe in detail what you just did in this process. 64 TEXTEAMS BIology Institute 2004 Mechanisms of Genetics Teacher Blackline Masters The Charles A. Dana Center at UT Austin 65 Insect Chromosomes—1 66 TEXTEAMS BIology Institute 2004 Insect Chromosomes—2 The Charles A. Dana Center at UT Austin 67 Insect Chromosomes—3 68 TEXTEAMS BIology Institute 2004 Insect Chromosomes—4 The Charles A. Dana Center at UT Austin 69 Insect Chromosomes—5 70 TEXTEAMS BIology Institute 2004 Insect Parts: Now that you have the phenotype of your offspring, draw the fly by tracing and then coloring the correct Insect Parts on the unlined paper. The Charles A. Dana Center at UT Austin 71 mRNA Genetic Code Wheel 72 TEXTEAMS BIology Institute 2004 mRNA Genetic Code Chart 2nd Base U U A G A G Phenylalanine Serine Tyrosine Cysteine Phenylalanine Serine Tyrosine Cysteine Leucine Serine stop stop Leucine Serine stop Tryptophan Leucine Proline Histidine Arginine Leucine Proline Histidine Arginine Leucine Proline Glutamine Arginine Leucine Proline Glutamine Arginine Isoleucine Threonine Asparagine Serine Isoleucine Threonine Asparagine Serine Isoleucine Threonine Lysine Arginine Methionine Threonine Lysine Arginine Valine Alanine Aspartic Acid Glycine Valine Alanine Aspartic Acid Glycine Valine Alanine Glutamic Acid Glycine Valine Alanine Glutamic Acid Glycine The Charles A. Dana Center at UT Austin U C A G U C A G U C A G 3rd Base 1st Base C C U C A G 73 ��������� ��� ��� ��� 74 TEXTEAMS BIology Institute 2004 The Charles A. Dana Center at UT Austin 75 ���� ��� 76 TEXTEAMS BIology Institute 2004 �������� ��� ��� ��� The Charles A. Dana Center at UT Austin 77 ������ ��� 78 TEXTEAMS BIology Institute 2004 ������� ����� ��� ��� ��� The Charles A. Dana Center at UT Austin 79 80 TEXTEAMS BIology Institute 2004 DNA Strands TA C C A A A G A C TATATA C T TA C AT G C A A A C C TATA C T TA C C A AT G G C C C C G TA C T TA C AT G T G G C A G C TA A C T TA C C A AT G G C A U C TA A C T TA C AT G C A A A C C TATA C T TA C C A A A G A A C C TATA C T TA C AT G T G G C C C C TA A C T The Charles A. Dana Center at UT Austin 81 82 TEXTEAMS BIology Institute 2004 Mechanisms of Genetics Student Blackline Masters The Charles A. Dana Center at UT Austin 83 Fundamentally Genetics Looking at Your Traits Are you dominant or recessive for the following traits? You and your group will have to look at each other to figure this out. Record your responses in the appropriate blanks. 1. Tasting Paper—Taste the paper. It contains a harmless chemical that some people can taste and others cannot. The ability to taste the chemical is a dominant trait. People who cannot taste this chemical are recessive for the trait. _____________________________ Dominant or Recessive 2. Tongue Rolling—Some people can roll their tongues into a taco- or U-shape. This is a dominant trait. If you cannot roll your tongue into a taco- or U-shape, you are recessive for this trait. _____________________________ Dominant or Recessive 3. Earlobes—It is a dominant trait to have earlobes that hang down. People who have earlobes attached directly to the side of their heads are recessive for this trait. _____________________________ Dominant or Recessive 4. Earbump—Some people have a bump on the inside rim of the upper part of the ear ridge called Darwin’s ear point. The bump is due to the presence of a dominant allele. If you are lacking the bump, you are recessive for this trait. _____________________________ Dominant or Recessive 5. Widow’s Peak—If you have a hairline that comes to a point in the middle of your forehead, you possess a dominant allele for widow’s peak. A straight or even hairline indicates that you are recessive for this trait. _____________________________ Dominant or Recessive 6. Hitchhiker’s Thumb—People who can bend the last joint of their thumbs back to a 90-degree angle are dominant for hitchhiker’s thumb. People who lack this ability are recessive for this trait. _____________________________ Dominant or Recessive 7. Polydactyly—People born with six fingers or toes possess the dominant trait for polydactyly. Having five fingers and toes is a recessive trait. In the U.S., people with extra toes or fingers usually have them removed shortly after birth. _____________________________ Dominant or Recessive 84 TEXTEAMS BIology Institute 2004 8. Syndactyly—Having webbed fingers and toes is a dominant trait. Sometimes only a pair of fingers or toes are webbed. If you have fingers and toes that separate, then you are recessive for this trait. _____________________________ Dominant or Recessive 9. Cleft Chin—If you have a chin that has a split in the middle, like John Travolta, you have a cleft chin. This is a recessive trait. The absence of a cleft chin is a dominant feature. _____________________________ Dominant or Recessive 10. Hair Whorl—Have someone in your group look at the back of your head to determine if your hair whorls to the right (clockwise) or to the left (counterclockwise). If you use hairspray or gels on your hair, this activity may be a hard one to do. A clockwise whorl is dominant over the recessive trait of a counterclockwise whorl. _____________________________ Dominant or Recessive Describing Your Traits Now that you know the traits you exhibit—your phenotype—how do you describe them? The protocol is to use letters to describe genetic traits—your genotype. For example, an uppercase T can represent the dominant trait for tasting the tasting papers and a lowercase t the recessive trait for not tasting the tasting papers. In this learning experience, two letters are used to represent the traits because one comes from your mother and one from your father; however, traits sometimes are represented by more than two letters because more than two alleles are involved. The ABO alleles for blood type are an example of such a combination. Two letters also represent the gene, or DNA strand, for each of the 10 traits. So Tt also represents the gene for the ability to taste the tasting papers. Each letter represents an allele for each version of the gene—T for the version of being able to taste the tasting papers and t for the version of not being able to taste the tasting papers. An individual who receives a TT from their parents is described as homozygous for the ability to taste the tasting papers. An individual who receives Tt from their parents is described as heterozygous for the ability to taste the tasting papers. The heterozygous individual has two different letters, Tt, as compared with the homozygous individual who has two letters that are identical, TT or tt. When you have a recessive trait, such as not being able to taste the tasting papers, your genotype is certain. The two pieces of genetic information you got from your parents are recessive and recessive. So the genotype will be two lowercase letters, tt. When you have a dominant trait, such as being able to taste the tasting papers, your genotype is not certain. The pieces of genetic information you got from your parents could be dominant and dominant, or dominant and recessive. So the genotype could be two uppercase letters, TT, or one uppercase and one lowercase letter, Tt. Use the following key to describe your phenotype and all your possible genotypes for each of the 10 traits. Record your responses in the appropriate blanks. The Charles A. Dana Center at UT Austin 85 Key T—TASTING PAPER TASTER H—HITCHHIKER’S THUMB PRESENT t—nontasting paper taster h—hitchhiker’s thumb not present R—TONGUE ROLLER P—SIX FINGERS OR TOES r—nontongue roller p—five fingers or toes E—UNATTACHED EARLOBES S—WEBBED FINGERS OR TOES e—attached earlobes s—nonwebbed fingers or toes D—DARWIN’S EAR POINT PRESENT C—NON CLEFT CHIN d—Darwin’s ear point not present c—cleft chin W—WIDOW’S PEAK PRESENT L—CLOCKWISE HAIR WHORL w—widow’s peak not present l—counterclockwise hair whorl 1. Tasting Paper—Taste the paper. It contains a harmless chemical that some people can taste and others cannot. The ability to taste the chemical is a dominant trait. People who cannot taste this chemical are recessive for the trait. _________________________ ________________________ Phenotype Genotype 2. Tongue Rolling—Some people can roll their tongues into a taco- or U-shape. This is a dominant trait. If you cannot roll your tongue into a taco- or U-shape you are recessive for this trait. _________________________ ________________________ Phenotype Genotype 3. Earlobes—It is a dominant trait to have earlobes that hang down. People that have earlobes attached directly to the side of their heads are recessive for this trait. _________________________ ________________________ Phenotype Genotype 4. Earbump—Some people have a bump on the inside rim of the upper part of the ear ridge. It is called Darwin’s ear point. If you have the bump, it is due to the presence of a dominant allele. If you are lacking the bump, you are recessive for this trait. _________________________ ________________________ Phenotype Genotype 86 TEXTEAMS BIology Institute 2004 5. Widow’s Peak—If you have a hairline that comes to a point in the middle of your forehead, you possess a dominant allele for widow’s peak. A straight or even hairline indicates you are recessive for this trait. _________________________ ________________________ Phenotype Genotype 6. Hitchhiker’s Thumb—People who can bend the last joint of their thumbs back to a 90-degree angle are dominant for hitchhiker’s thumb. People who lack this ability are recessive for this trait. _________________________ ________________________ Phenotype Genotype 7. Polydactyly—People born with six fingers or toes possess the dominant trait for polydactyly. Having five fingers and toes is a recessive trait. In the U.S., people with extra toes or fingers usually have them removed shortly after birth. _________________________ ________________________ Phenotype Genotype 8. Syndactyly—Having webbed fingers and toes is a dominant trait. Sometimes only a pair of fingers or toes are webbed. If you have fingers and toes that separate, then you are recessive for this trait. _________________________ ________________________ Phenotype Genotype 9. Cleft Chin—If you have a chin that has a split in the middle, like John Travolta, you have a cleft chin. This is a recessive trait. The absence of a cleft chin is a dominant feature. _________________________ ________________________ Phenotype Genotype 10. Hair Whorl—Have someone in your group look at the back of your head to determine if your hair whorls to the right (clockwise) or to the left (counterclockwise). If you use hairspray or gels on your hair, this activity may be a hard one to do. A clockwise whorl is dominant over the recessive trait of a counterclockwise whorl. _________________________ ________________________ Phenotype Genotype The Charles A. Dana Center at UT Austin 87 Dominant Fly Genes that determine traits are encoded and arranged linearly on structures called chromosomes found in the nuclei of most cells. When organisms reproduce, the resulting offspring should receive an equal number of chromosomes from the mother and the father. Materials: Egg, sperm, Insect Parts drawings, colored pencils, unlined paper Procedures: 1. Use the chromosomes and the Insect Traits Key below to determine the genotype and phenotype of the offspring. Record the information in Data Table 1. Insect Traits Key H — LARGE HEAD E — RED EYE P — ANTENNAE PRESENT h — small head e — apricot eye p — antennae absent T — SHORT THORAX O — ORANGE WING W — SHORT WINGS t — long thorax o — green wings w — long wings A — SHORT ABDOMEN B — BLACK BODY* L — SHORT LEGS a — long abdomen b — gray body* l — long legs X X — Female * Body color refers to antennae, head, thorax, abdomen, and legs. X Y — Male 88 TEXTEAMS BIology Institute 2004 Data Table 1 Trait Genotype Phenotype Head Size Hh Large head Eye Color Antennae 2. Open the egg and sperm and examine the chromosomes. Pair up the chromosomes by matching the numbers on them. Use the information on the chromosomes and in the Insect Traits Key to complete Data Table 2. Data Table 2 Trait Genotype Homozygous or Heterozygous Dominant or Recessive Hemizygous Not Applicable Phenotype Head size Chromosome pair 1 Eye color Antennae Thorax size Chromosome pair 2 Wing color Wing length Leg length Chromosome pair 3 Body color* Abdomen size Chromosome pair 4 Sex * Body color refers to antennae, head, thorax, abdomen, and legs. The Charles A. Dana Center at UT Austin 89 DNA, mRNA, and Protein Synthesis (Computer Simulation) In this investigation, use the PC or Apple™ platform computer to draw DNA, mRNA, and tRNA and simulate protein synthesis. The instructions are the same for either platform; however the toolbars will be in different locations. Before beginning, you must activate the Drawing tool by pulling down the View menu in MicroSoft Word™, highlighting “Toolbars,” and selecting “Drawing.” The Drawing Toolbar should appear on the computer screen (see Figure 1). Figure 1 90 TEXTEAMS BIology Institute 2004 DNA DNA is composed of building blocks called nucleotides and is located in the nucleus of most cells. A nucleotide is composed of a deoxyribose (D), a phosphate (P), and a nitrogen base. The phosphate, deoxyribose, and the nitrogen base are all connected by covalent bonds. A nucleotide is shown in Figure 2. Figure 2 The overall shape of the DNA molecule resembles a ladder twisted into a helix shape. Each vertical side of the ladder is made of alternating deoxyriboses (D) and phosphates (P). The rungs of the ladder consist of nitrogen bases connected to each other by hydrogen bonds. Nitrogen bases are of four types: adenine (A), thymine (T), cytosine (C), and guanine (G). Normally, because of its structure, adenine will bond only with thymine, and cytosine with guanine. Four nucleotides are shown in Figure 3. Figure 3 Drawing DNA To draw DNA, you must select several shapes to represent the different parts of DNA: the four different nitrogen bases, phosphate, and deoxyribose. Nitrogen bases. Using the Drawing Toolbar, click on “AutoShapes,” select “block arrows,” then select the chevron to represent adenine and the pentagon to represent thymine. The Charles A. Dana Center at UT Austin 91 Click on “AutoShapes,” select “flowchart,” then select “flowchart delay” to represent cytosine and “flowchart data” to represent guanine. 92 TEXTEAMS BIology Institute 2004 Phosphate. Using the Drawing Toolbar, click on “Basic Shapes,” select “oval” to represent phosphate. Place the mouse arrow over the edge of the oval and then click and drag the edge toward the center of the oval to reduce its size and reshape it to a circle. Deoxyribose. Using the Drawing Toolbar, click on “AutoShapes,” and select “block arrows,” then select “pentagon” to represent deoxyribose. Nucleotide. Arrange one of the shapes for the nitrogen bases, a phosphate, and a deoxyribose to create a nucleotide. Assemble the nucleotide according to Figure 4. The Charles A. Dana Center at UT Austin 93 Figure 4 Lines. Click on the diagonal line in the Drawing Toolbar, which causes the cursor to be replaced by a cross. Place the center of the cross where the line is to start and hold the mouse button down while dragging the line to its ending point. If you are having trouble controlling the start or end point of the line and it extends into the object, click on “Draw,” order, and send to back. This will hide the ends of the line behind the shape. To move the line in very small increments, click on “Draw”, grid, and “click” to remove the check mark from snap objects to grid. Use the up and down arrows on the keyboard to move the line in very small increments. Figure 5 94 TEXTEAMS BIology Institute 2004 Changing the Appearance of a Shape. To select a fill color for the nucleotide components, click on the shape, then click on the arrow to the right of the fill color paint bucket in the Drawing Toolbar and click on ONE of the following choices: • A color box • Select “More Fill Colors” for additional color choices • Select “Fill Effects” and choose a texture or pattern • Combine color and “Fill Effects” for more possibilities. Select “Fill Effects” ® “Pattern” ® “foreground color” and/or “background color” The Charles A. Dana Center at UT Austin 95 Figure 6 Labeling the Shapes. After the color of the shape has been selected, the nucleotide can be labeled. To add text for the first time, click the text box on the Drawing Toolbar, drag a text box into the desired area, and type in the text. To change the size of the text, highlight the text and change the font size. Clicking on the font color icon and selecting a new color changes the color of the letter. To make the box lines disappear, right click on one of the textbox lines, select “format text box,” “then color” (no fill) and “line color” (no line). Click OK. Figure 7 Grouping Shapes Together. When using the Drawing tool to construct a DNA or RNA molecule, it is helpful to group the shapes and lines together. To group the shapes and lines, left click on the white arrow on the Toolbar. While the left mouse button is depressed, drag a box around the items to be grouped. Left click on the “Draw” button and select “Group.” 96 TEXTEAMS BIology Institute 2004 Copying the Nucleotide. Once the shapes and lines have been grouped together, the nucleotide can be copied and pasted as many times as needed. To create additional nucleotides with different nitrogen bases, simply ungroup an existing nucleotide and change the nitrogen base. The nucleotide can be ungrouped by clicking “Ungroup”. Base Pairing Arrangement of DNA. There are four nitrogen bases found in a DNA molecule: adenine, thymine, cytosine, and guanine. The nitrogen bases are held together by hydrogen bonds. Adenine pairs with thymine, and the two are held together by two hydrogen bonds. Guanine pairs with cytosine, and the two are held together by three hydrogen bonds. Use what you have learned to create a model of a DNA molecule. To add the hydrogen bonds shown by the dotted lines, first use the line tool to draw the lines. While the line is still selected, click on the dash style tool and select a dash pattern. The Charles A. Dana Center at UT Austin 97 DNA Replication The function of DNA is to store and transmit genetic information. The genetic information stored in DNA functions as a blueprint for all cellular processes that occur in the lifetime of a living organism. During DNA replication, an exact copy of the original cell is made. Thus, skin cells are replaced with skin cells, and muscle cells are replaced with muscle cells. When DNA replication begins, the hydrogen bonds holding the nitrogen bases together break, causing the helix to separate at various points along the ladder. These original strands will act as a template to form more DNA. Freefloating nucleotides come in and attach to the original strand. The DNA continues to separate, and more nucleotides float in and attach to the original strand. This process continues until each original strand has been replicated. Draw a model of DNA using Figure 8 as a guide. Print it for the teacher. Figure 8 DNA and mRNA Transcription DNA remains in the nucleus, so the transfer of genetic information is relayed by another molecule, messenger RNA (mRNA). This molecule is made when DNA is used as a template in a process called transcription. The process is basically the same as replication, except that the nucleotides have ribose (R) instead of deoxyribose (hence, RNA instead of DNA) and the nitrogen base uracil (U) is substituted for thymine. To create an mRNA molecule showing transcription, copy the left side of the DNA molecule. To do this, use the white arrow on the Toolbar to draw a box around the part of the molecule to be copied, click on “Draw,” then group. While the objects are still selected, copy them. Paste the left side of the DNA molecule in your selected location, then build the mRNA nucleotides. Use Figure 9 as a model. Print it. 98 TEXTEAMS BIology Institute 2004 Figure 9 Translation While still in the nucleus, the RNA strand is processed and becomes a strand of mRNA. The mRNA leaves the nucleus and travels to the cytoplasm where it links up with a ribosome. Molecules of tRNA will bring amino acids to the ribosome, based on the mRNA code. The growing amino acid chain becomes a protein. Draw a model of protein synthesis. Figure 10 The Charles A. Dana Center at UT Austin 99 100 TEXTEAMS BIology Institute 2004 DNA, mRNA, and Protein Synthesis (Paper/Pencil) Complete the model of DNA below by drawing the missing nitrogen bases and the nucleotides. Label the structures, design an identification key, and color the DNA structures based on the key. The Charles A. Dana Center at UT Austin 101 DNA Replication Use the same DNA sequence from the DNA model on the first page to simulate how DNA replicates itself. During replication, the hydrogen bonds between the nitrogen bases are broken and the molecule splits apart at various points along the ladder. Nucleotides attach to the complementary base of the original strand. This continues until all segments of DNA have been copied. The result is two DNA molecules, each composed of an original strand and a newly formed strand. Complete the model of DNA replication below by drawing the missing nitrogen bases in the nucleotides. Show covalent bonding between the phosphate and deoxyribose, and the deoxyribose and the base. Show hydrogen bonding between the nitrogen bases. There are two hydrogen bonds between adenine and thymine, and three hydrogen bonds between cytosine and guanine. Label and color each part of the DNA replication using the same identification key you designed for the DNA model. ����������� ��������� ������� ������� �������� ������������� ������� ������������� ��������������������� ��������� ��������������������� 102 ��������� ������������ ��������� ������������ ��������� ��������������������� TEXTEAMS BIology Institute 2004 Transcription It is the function of another nucleic acid, called messenger RNA (mRNA), to relay genetic information to the ribosomes. RNA is made when a strand of DNA is used as a template. This process is called transcription. The transcription process is basically the same as replication, except that nucleotides have ribose (R) instead of deoxyribose (hence, RNA instead of DNA), and the nitrogen base uracil (U) is substituted for thymine. The transfer of genetic information is relayed out of the nucleus by messenger RNA (mRNA). The RNA is modified to become an mRNA molecule. Complete the model of transcription below by drawing the missing nitrogen bases in the mRNA nucleotides. Show hydrogen bonding between the nitrogen bases. There are two hydrogen bonds between adenine and uracil, and three hydrogen bonds between cytosine and guanine. Label and color each part of the transcription process using the same identification key you designed for the DNA model. ��� ����������� ������� �������� ������������� ������ ��������� ������� ������� ������ �� �� ��� ���� �� �� The Charles A. Dana Center at UT Austin 103 Translation Once mRNA leaves the nucleus, it travels through the cytoplasm to a ribosome. The mRNA inserts itself between the subunits of a ribosome and the ribosome reads the mRNA, three nitrogen bases at a time. Three nitrogen bases together are referred to as a codon. At the same time, transfer RNA (tRNA) brings the amino acid specified by the mRNA to the ribosome. When the start codon (AUG) is read, protein synthesis begins and continues until a stop codon is read. The amino acids brought in by the tRNA are bonded together one at a time and continue until the process is completed. Copy the mRNA sequence from your transcription model onto the mRNA strand inside the box. Label and color each part of the translation using the same identification key you designed for the DNA model. ��� ����������� ������� �������� ������������� ������ ��������� ������� ������� ������ ���� �� 104 �� ���� TEXTEAMS BIology Institute 2004 Protein Synthesis: Like a Banana Split 1. Complete Data Table 1 using your knowledge of DNA transcription and the mRNA Genetic Code Wheel or Chart. Data Table 1 DNA mRNA AMINO ACID TCA AGU Serine CCC Glycine Methionine GGA CCU GAG TAA Glutamic acid Isoleucine Tryptophan CGC GCG CGT GCA ATT AAA UUU TTA Asparagine CCA Glycine TTT 2. Name five amino acids listed on the mRNA Genetic Code Chart or the mRNA Genetic Code Wheel. 3. Name five ingredients used in a banana split. The Charles A. Dana Center at UT Austin 105 4. Use the mRNA Genetic Code Chart or the mRNA Genetic Code Wheel to list ALL possible mRNA sequences for the amino acids shown in this segment of hemoglobin. Data Table 2 Valine Histidine Leucine Threonine Proline Glutamic Acid 5. Examine the mRNA sequences for each amino acid recorded in Data Table 2. What do you notice about them? 6. Suggest reasons for the fact that there are several ways to produce the amino acids that build hemoglobin. 106 TEXTEAMS BIology Institute 2004 7. Using the DNA strand, decode the ingredients for a banana split recipe. Apply your knowledge of DNA transcription, translation, and the mRNA Genetic Code Chart or the mRNA Genetic Code Wheel to complete the table. Use Data Table 3. Data Table 3 DNA mRNA The Charles A. Dana Center at UT Austin Amino Acid tRNA Banana Split Ingredient 107 8. Build your own banana split recipe. Use your knowledge of DNA transcription and translation and the mRNA Genetic Code Table or the mRNA Genetic Code Chart to decode it. Use Data Table 4. Data Table 4 DNA 108 mRNA Amino Acid tRNA Banana Split Ingredient TEXTEAMS BIology Institute 2004 The Human Genome In 1990, the National Institutes of Health and the Department of Energy joined with international partners to begin a worldwide effort to map and sequence the genome of humans and certain model organisms. This effort, known as the Human Genome Project (HGP), was completed in 2003. As genomic information was collected, it was placed into databases and shared within the research community. These databases are used to study cancer, diabetes, and other common diseases. The Human Genome Project has also examined genetic variation in human populations by analyzing the DNA of groups of people from around the world. One example is the investigation of three different alleles for blood protein, GC-1, HP-1, and FY-O. The GC-1 allele provides the code for a protein that attaches to and regulates the distribution of vitamin D in the human body. The HP-1 allele provides the code for haptoglobin, a protein that attaches itself to the hemoglobin released by red blood cells when they die a natural death or are destroyed by a disease such as malaria. The FY gene provides the code for a blood protein found on the surface of red blood cells. This protein makes it easier for the malarial parasite Plasmodium vivax to multiply in red blood cells and cause malaria. However, the FY-O allele results in the absence of this protein, making it difficult for the parasite to gain entry into the red blood cells to multiply. Therefore, the FY-O allele provides a selective advantage in parts of the world where Plasmodium vivax malaria is common. This advantage accounts for the high frequency of the FY-O allele in those regions. Use the maps below to identify the genetic frequency (as a percent) of the three different alleles (GC-1, HP-1, and FY-O) in the world’s populations. Record the frequency of each allele on each continent in Table 1. Occurrence of GC-1 allele 73% 88% 76% The Charles A. Dana Center at UT Austin 83% 109 Occurrence of HP-1 allele 38% 73% 32% 17% 42% 60% 27% Occurrence of FY-O allele .3% 0.2% 96% 3% 0% From the National Human Genome Research Institute and the National Institutes of Health. For more information visit http://www.nhgri.nih.gov/educationkit/ 110 TEXTEAMS BIology Institute 2004 Table 1 GC-1 HP-1 FY-O Africa Asia & Middle East Australia Europe North America South America 1. What is the range of frequencies for each allele shown? 2. On a worldwide basis, which allele varies the most in frequency? 3. On a worldwide basis, which allele varies the most in distribution across the continents? 4. Examine Map 1 showing the occurrence of the malarial parasite Plasmodium vivax. What inference can be made concerning the occurrence of Plasmodium vivax and the variation in the frequency of the FY-O allele in human populations? Map 1 Occurrence of Malarial Parasite Plasmodium vivax The Charles A. Dana Center at UT Austin 111 Assessment Task: Inheritance of Sickle Cell Anemia Your team has received the following letter: Dear DNA Team: My name is Dr. Ilene Martin and I specialize in obstetrics. Although I have much experience at helping my patients and their husbands through a pregnancy, I am not an expert in many of the genetic concerns that couples have before they get pregnant. I am aware that people on your DNA Team have a broad and thorough understanding of how the DNA molecule works and can explain those workings to people in everyday language that they can understand. George and Beatrice Jackson are patients of mine who are considering starting a family. Both George and Beatrice have family members with sickle-cell anemia, so you can see their concern.They want to become fully informed regarding how DNA works and how it codes to make the normal form of the protein hemoglobin.They also would like a full explanation of what goes wrong with the DNA to cause a person to have sickle-cell anemia. I would like for your DNA team to explain the workings of DNA and how sickle-cell anemia gets passed on to future generations. Please let me know if this is possible. Thank you, Dr. Ilene Martin Your task is to develop models and clear explanations to help Dr. Martin’s patients learn how DNA works, how it codes to make normal hemoglobin, and what can go wrong with the DNA to cause sickle-cell anemia. Safety precautions: None required. 112 TEXTEAMS BIology Institute 2004 Part 1 1. Your teacher will give you two strips of paper (one written in blue, the other written in red) that represent a DNA molecule. This DNA molecule represents a portion of the normal gene for the protein hemoglobin. Why are two strips, not one, needed to represent DNA? 2. Use these two strips to make an exact copy of the DNA molecule given to you. (A) Describe what you just did to make a copy. (B) What is this process called? 3. What do the four letters on the DNA molecule represent? 4. What is the significance of the 3’ to 5’ direction on each strand? 5. Select the 5’ to 3’ coding strand (the blue strand) of your DNA molecule. Then, obtain one blank strip of paper from your teacher. On the blank strip, write the mRNA base sequence in a third color. (A) What is the mRNA coding sequence on your strip? (B) What does this base sequence represent? (C) What step of protein synthesis did you just perform? (D) Why must the DNA message go through this step? The Charles A. Dana Center at UT Austin 113 (E) Name the two structural differences of DNA and mRNA. 6. Using your mRNA strip, demonstrate the process of converting the information in mRNA to tRNA. (A) Describe in detail what you just did in this process. (B) What step of protein synthesis did you just complete? Part 2 1. Observe the drawings of normal human red blood cells (RBCs) and sickle-shaped red blood cells (RBCs). �������������� ����������� (A) Describe the differences between the two types of RBCs. (B) What physiological functions might be affected by the shape of the sickled cells? 114 TEXTEAMS BIology Institute 2004 2. Hemoglobin consists of four polypeptide chains: two alpha chains and two beta chains. Normal hemoglobin is called hemoglobin A. The hemoglobin that produces sickle cells is called hemoglobin S. Since the protein hemoglobin is made of two kinds of polypeptide chains, how is it possible that there could be two forms of this protein? 3. In Part 1, you found the mRNA coding sequence for the first nine amino acids that code for hemoglobin. Here is the sequence for the first nine amino acids found in the mutated form of hemoglobin that causes sickle-cell anemia: start meth—val—his—leu—thr—pro—val—glu—lys What is a mutation? 4. Locate the difference(s) between the normal hemoglobin DNA sequence and the mutated sickle-cell hemoglobin. Use the figure below to see how the mutation occurred and to find the mutation on the DNA molecule. start meth val his leu thr pro glu glu lys AUG GUU CAU UUA ACU CCU GAG GAG AAA — normal mRNA TAC CAA GTA AAT TGA GGA CTC CTC TTT — normal DNA start meth AUG TAC val his leu thr pro val glu lys GUU CAU UUA ACU CCU GUG GAG AAA — mutated mRNA CAA GTA AAT TGA GGA CAC CTC TTT — mutated DNA Describe in detail what you just did in this process. The Charles A. Dana Center at UT Austin 115