Genetic Variation Reading Assignment Answer the following questions in your JOURNAL while reading the accompanying packet. Genetic Variation 1.

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1 Genetic Variation Reading Assignment Answer the following questions in your JOURNAL while reading the accompanying packet. Genetic Variation 1. In the diagram about genetic shuffling, what two phenomena that we have studied this year are being demonstrated? When do these two phenomena occur? Mutations 2. The article states that mutations are random. What does it mean by the term random? 3. Why are somatic mutations not passed onto offspring? 4. What are germ line mutations? Mutations Are Random 5. How is the occurrence of a mutation and the usefulness of that mutation to the organism related? 6. Explain why hypothesis A is more widely accepted by scientists than hypothesis B. The Lederberg Experiment 7. What was the Lederberg s research question? Be sure to include the manipulated and responding variable. 8. Circle the manipulated variable and underline the responding variable in your answer for #7. 9. What was the significance of washing the original plate with penicillin at the end of the experiment? The Causes of Mutations 10. What results when a cell makes an imperfect copy of its DNA? 11. What results when a cell makes an imperfect copy of mrna? 12. Is it possible for a mutation to occur and have no effect upon the organism? How? 13. Describe two ways that a mutation could cause big changes in a phenotype? A Case Study: Sickle Cell Anemia 14. Is Sickle Cell Anemia a recessive or dominant genetic disorder? How do you know? 15. Why is Sickle Cell Anemia a great example of how form effects function?

2 Genetic Variation Without genetic variation, some of the basic mechanisms of evolutionary change cannot operate. There are three primary sources of genetic variation, which we will learn more about: 1. Mutations are changes in the DNA. A single mutation can have a large effect, but in many cases, evolutionary change is based on the accumulation of many mutations. 2. Gene flow is any movement of genes from one population to another and is an important source of genetic variation. 3. Sex can introduce new gene combinations into a population. This genetic shuffling is another important source of genetic variation. Genetic shuffling is a source of variation. Mutations Mutation is a change in DNA, the hereditary material of life. An organism s DNA affects how it looks, how it behaves, and its physiology all aspects of its life. So a change in an organism s DNA can cause changes in all aspects of its life. Mutations are random. Mutations can be beneficial, neutral, or harmful for the organism, but mutations do not try to supply what the organism needs. In this respect, mutations are random whether a particular mutation happens or not is unrelated to how useful that mutation would be. Not all mutations matter to evolution. Since all cells in our body contain DNA, there are lots of places for mutations to occur; however, not all mutations matter for evolution. Somatic mutations occur in nonreproductive cells and won t be passed onto offspring. For example, the golden color on half of this Red Delicious apple was caused by a somatic mutation. The seeds of this apple do not carry the mutation. The only mutations that matter to large-scale evolution are those that can be passed on to offspring. These occur in reproductive cells like eggs and sperm and are called germ line mutations. A single germ line mutation can have a range of effects: 1. No change occurs in phenotype. You ve probably heard of junk DNA, DNA that doesn t seem to do anything. Mutations in junk DNA get passed on to offspring, but as far as we know, have no obvious effect on the phenotype. 2. Small change occurs in phenotype. A single mutation caused this cat s ears to curl backwards slightly. 3. Big change occurs in phenotype. Some really important phenotypic changes, like DDT resistance in insects are sometimes caused by single mutations 1. A single mutation can also have strong negative effects for the organism. Mutations that cause the death of an organism are called lethals and it doesn't get more negative than that.

3 There are some sorts of changes that a single mutation, or even a lot of mutations, could not cause. Neither mutations nor wishful thinking will make pigs have wings; only pop culture could have created Teenage Mutant Ninja Turtles mutations could not have done it. Mutations are Random The mechanisms of evolution like natural selection and genetic drift work with the random variation generated by mutation. Factors in the environment are thought to influence the rate of mutation but not the direction of mutation. For example, exposure to harmful chemicals may increase the mutation rate, but will not cause more mutations that make the organism resistant to those chemicals. In this respect, mutations are random whether a particular mutation happens or not is unrelated to how useful that mutation would be. In the U.S., where people use shampoos with particular chemicals in order to kill lice, we have a lot of lice that are resistant to the chemicals in those shampoos. There are two possible explanations for this: Hypothesis A: Hypothesis B: Resistant strains of lice were always there and are just more frequent now because all the non-resistant lice died a sudsy death. Exposure to lice shampoo actually caused mutations for resistance to the shampoo. There are several reasons scientists think that the first explanation is the right one and that directed mutations, the second possible explanation, don t happen: 1. Experimental data do not support directed mutation. If you expose bacteria to an antibiotic, you will likely observe an increased prevalence of antibiotic resistance. In 1952, Esther and Joshua Lederberg determined that these mutations do not happen because of exposure to the antibiotic. They showed that bacteria with a mutation for resistance existed in the population even before the population was exposed to the antibiotic and that exposure to the antibiotic did not cause new resistant mutants to appear No known mechanism supports directed mutation. Imagine what would have to happen in order for a mutation to be directed by the environment. Somehow, information about the chemicals in the lice shampoo would have to be conveyed to the DNA or cellular machinery. Then, something would have to select the appropriate changes to make in the DNA and make them. There are no known mechanisms that could do this and it s hard to even imagine a mechanism that could do this. Recall that science can only use natural explanations for natural phenomena. Scientists are still doing research that provides evidence relevant to this issue.

4 Mutations happen for several reasons. The Causes of Mutations 1. DNA fails to copy accurately. Most of the mutations that we think matter to evolution are naturally-occurring. For example, when a cell divides, it makes a copy of its DNA and sometimes the copy is not quite perfect. That small difference from the original DNA sequence is a mutation. 2. External influences can create mutations. Mutations can also be caused by exposure to specific chemicals or radiation. These agents cause the DNA to break down. This is not necessarily unnatural even in the most isolated and pristine environments, DNA breaks down. Nevertheless, when the cell repairs the DNA, it might not do a perfect job of the repair. So the cell would end up with DNA slightly different than the original DNA and hence, a mutation. Types of Mutations Knowing a few basic types of mutations can help you understand why some mutations have major effects and some may have no effect at all. Substitution A substitution is a mutation that exchanges one base for another (i.e., a change in a single chemical letter such as switching an A to a G). Such a substitution could: 1. change a codon to one that encodes a different amino acid and cause a small change in the protein produced. For example, sickle cell anemia is caused by a substitution in the beta-hemoglobin gene, which alters a single amino acid in the protein produced. 2. change a codon to one that encodes the same amino acid and causes no change in the protein produced. These are called silent mutations. 3. change an amino-acid-coding codon to a single stop codon and cause an incomplete protein. This can have serious effects since the incomplete protein probably won t function. Insertion Insertions are mutations in which extra base pairs are inserted into a new place in the DNA. Deletion Deletions are mutations in which a section of DNA is lost, or deleted. Frameshift Since protein-coding DNA is divided into codons three bases long, insertions and deletions can alter a gene so that its message is no longer correctly parsed. These changes are called frameshifts. For example, consider the sentence, The fat cat sat. Each word represents a codon. If we delete the first letter and parse the sentence in the same way, it doesn t make sense. In frameshifts, a similar error occurs at the DNA level, causing the codons to be parsed

5 incorrectly. This usually generates proteins that are as useless as single hef atc ats at is uninformative. There are other types of mutations as well, but this short list should give you an idea of the possibilities. A Case Study: Sickle Cell Anemia Sickle cell anemia is a genetic disease with severe symptoms, including pain and anemia. The disease is caused by a mutated version of the gene that helps make hemoglobin a protein that carries oxygen in red blood cells. People with two copies of the sickle cell gene have the disease. People who carry only one copy of the sickle cell gene do not have the disease, but may pass the gene on to their children. The mutations that cause sickle cell anemia have been extensively studied and demonstrate how the effects of mutations can be traced from the DNA level up to the level of the whole organism. Consider someone carrying only one copy of the gene. She does not have the disease, but the gene that she carries still affects her, her cells, and her proteins: 1. There are effects at the DNA level. 2. There are effects at the protein level. Normal hemoglobin (left) and hemoglobin in sickled red blood cells (right) look different; the mutation in the DNA changes the shape of the hemoglobin molecule, allowing it to clump together.

6 3. There are effects at the cellular level. When red blood cells carrying mutant hemoglobin are deprived of oxygen, they become sickle-shaped instead of the usual round shape (see picture). This shape can sometimes interrupt blood flow. 4. There are negative effects at the whole organism level. Under conditions such as high elevation and intense exercise, a carrier of the sickle cell allele may occasionally show symptoms such as pain and fatigue. 5. There are positive effects at the whole organism level. Carriers of the sickle cell allele are resistant to malaria, because the parasites that cause this disease are killed inside sickle-shaped blood cells. This is a chain of causation. What happens at the DNA level propagates up to the level of the complete organism. This example illustrates how a single mutation can have a large effect, in this case, both a positive and a negative one. But in many cases, evolutionary change is based on the accumulation of many mutations, each having a small effect. Whether the mutations are large or small, however, the same chain of causation applies: changes at the DNA level propagate up to the phenotype.