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Science 11th grade LEARNING UNIT how do we transform the planet? S/K Language Socio cultural context of the LO Curricular axis Standard competencies Background Knowledge English Review topic Vocabulary box LEARNING OBJECT What is genetic drift? Define genotype and phenotype characteristics. Explain the concept of allelic frequency. Use the Hardy-Weinberg equation to calculate the change of allelic frequencies in a population. Investigate the base of the stochasticity concept. Compare the impact of genetic drift with natural selection. Find examples of founder and bottleneck effects. English Colombia Living Environment Explain biologic diversity as a consequence of environmental and genetic changes; and dynamic relationships within ecosystems. Students must understand ecologic concepts about individuals, populations, communities, and ecosystems. Additionally, basic knowledge about genetics: DNA composition and properties, heritage, and process of character transmission. Use of That vs Which, what situations call for each Hunter-gatherer: A member of a culture in which food is obtained by hunting, fishing, and foraging rather than by agriculture or animal husbandry. Environment: The conditions that surround someone or something. The conditions and influences that affect the growth, health, progress, etc., of someone or something. The environment: the natural world. Equilibrium: A state in which opposing forces or actions are balanced so that one is not stronger or greater than the other. A state of emotional balance or calmness. Name: ___________________________________________________________ Grade: ___________________________________________________________ INTRODUCTION Simona: Have you heard about “chuckwalla”? Patricio: Is it a new reggaeton singer? Simona: Hahaha. No, it is a herbivore lizard, which lives in the United States and Mexico. Its scientific name is Sauromalus obesus. Patricio: With that name, it must be huge. Simona: Well, it actually grows throughout its life; however, it doesn’t grow more than a few centimeters. And the ones that live in higher altitudes are bigger than those in lower altitudes. Patricio: Why? The ones that eat more are obesus. Hahaha. Simona: You guessed it! The ones in higher altitudes have more food available than those in lower altitudes. An experiment was conducted to see if the growth had to do with available food or genetic differences. Patricio: How? Who conducted the experiment? Simona: A scientists, Christopher Tracy. He took baby lizards from different altitudes and placed them all in a similar habitat recreated in his lab. Patricio: With lights, rocks, and food? Simona: Exactly, the food was available at all times so it wouldn’t limit their growth. Patricio: And, what happened? Simona: All lizards grew just fine, but the ones from higher altitudes grew more. Patricio: And what does that mean? Simona: What determines the growth of the lizards is not the food, but the allelic frequencies of the population. Patricio: Allelic frequencies? what is that? Figure. Chuckwalla. One of the species studied genetically to find out why there is a difference in the specie’s morphology. OBJECTIVES Throughout this section you will be able to: 1. To evaluate the numeric interpretation of the evolution theories of all living creatures. 2. To recognize the use of the Hardy-Weinberg equation to obtain biologic information. 3. To produce written texts to explain the importance of numeric calculations in science. ACTIVITY ONE Skill 1: Define phenotypic and genotypic characteristics. Skill 2: Explain the concept of allelic frequency. GENETIC PRINCIPLES The research of naturalists and geologist Charles Darwin (1809-1882), and the scientists and monk Gregor Mendel (1822-1884), revolutionized the world of biology. With the theory of natural selection and Mendelian biology, the modern study of evolution was born. Mendelian genetics state that an individual’s characteristics are passed down from parents to offspring in the form of genes, which can be understood as separate information packets. Mendel determined that genes have alternative forms, known as alleles. In his experiments, Mendel worked with alleles such as smooth seeds compared to course seeds, or tall plants compared to short plants. He observed that there are dominant alleles, which manifest their phenotype in heterozygosis and recessive alleles, which manifest their phenotype only in homozygosis. Mendel also introduced the difference between phenotype and genotype. The genotype is the genetic constitution of an organism, meaning the group of genes that an individual inherits from its parents. This does not vary throughout its life, independent of its environment. On the other hand, the phenotype is the group of observable external characteristics of an individual. The phenotype is produced by the effects of the combination of genes and environment. Experiments conducted with plants link phenotypic and genotypic variation. These have illustrated, for example, that there is a link between precipitation and the size of a plant. The success of a plant depends, aside from its genetic composition, on its morphology (Molles, 2006). Example: It is possible to see how the interaction of genes affects an individual’s phenotype in the color of Labrador dogs. Labradors have three basic colors: black, yellow, and brown. Genes located in two fixed places in the chromosomes determine these colors. The general proportion of black Labradors is 56%, yellow is 25%, and brown is 19% (FCV, UNNE, 2011). Figure. Labradors. Represent an example of change in phenotype, from the genotype. ALLELIC FREQUENCY When geneticists began to understand the laws of heritage and the changes produced by mutations of genetic variability, they wanted to know how that variability behaved through time, meaning, which was the allelic frequency of a population. Allelic frequency or gene frequency is the proportion of each allele present in a specific population. Allelic frequency is the characteristic that has to be taken into account in order to understand how genes are transmitted within a population. It has been proven that natural populations have a wide spectrum of genetic variations. The mathematician Hardy and the doctor Weinberg asked themselves if the proportion of two existing alleles for the same characteristic would modify from generation to generation after sexual reproduction. In 1908 they found the answer and demonstrated that resulting combinations after reproduction in generations of diploid organisms, do not produce changes in the general composition of the gene pool (Curtis et al., 2007). The Hardy-Weinberg Equilibrium states that sexual reproduction does not reduce the gene frequency of a population through generations. It stays constant if the following conditions are met. • Absence of mutations. • Absence of immigration or individual displacement to the interior of the population. • Absence of migration or displacement of individuals of a population. • Population must be infinitely large. • There must be random mating. • Natural selection does not affect alleles being considered (Curtis et al., 2007). If these previous characteristics were not present in given environments, the frequency of alleles in a population would not change from a generation to the next. Meaning, if a gene process alleles A and a, these would not change, nor the frequency of the three possible genotypes: AA, Aa, aa. Therefore the gene pool would remain in equilibrium. Learning Activity This activity will help you learn concepts related to phenotype, genotype, and allelic frequency. Match the concept with its meaning and corresponding characteristics. Concepts: phenotype, genotype, and allelic frequency. Table 1. Phenotype, genotype, and allelic frequency; meaning and characteristics. Concept Meaning Group of observable characteristics of an individual. Group of genes an individual inherits from its parents. Proportion of each allele present in a specific population. Does not vary throughout lifespan, independent of its environment. Characteristic that should be taken in consideration in order to understand how genes are transmitted within a population. A result of the combination between genes and the environment. It remains in equilibrium if there is no mutations, immigration, migration, if it is a large population, mating is random, and if natural selection does not affect alleles. Did you know that…? One of the animal species most commonly used for genetic studies is the fruit fly, Drosophila melanogaster. It has been used in labs since 1906, when Castle and Woodworth from Harvard University introduced it as genetic material (Patil & Biradar, 2011). Currently, it is widely used in genetic labs all over the world; even NASA has used it for outer space experiments. Its importance is due to the fact that it is present and plentiful all over the world. Its genome is well known, it is easy and economic to manipulate, it has a short lifespan, it has a wide offspring production, it is a eukaryote with few chromosomes, and shows many mutations manifested in phenotypic characteristics (Escobar et al., 2004). Figure. The fruit fly Drosophila represents one of the animal species most commonly used in genetics. ACTIVITY TWO Skill 3: Use the Hardy-Weinberg equation to calculate the change of allelic frequencies in a population. HARDY-WEINBERG EQUATION The Hardy-Weinberg equilibrium can be expressed mathematically through an equation, which determines the intensity and the direction of change in the allelic and genotypic frequencies: Hardy-Weinberg equation 𝑝2 + 2𝑝𝑞 + 𝑞 2 = 1 Where: p : is the dominant allele frequency q : is the recessive allele frequency 2 p : is the dominant homozygote frequency q2 : is the recessive homozygote frequency The sum of p and q must always be 1, meaning, the sum of both represents all alleles of that gene, which is equivalent to 100% of its gene pool. Individuals in the equation are assumed as homozygotes (Curtis et al., 2007). Example: Spider monkeys are widely found from Central to South America, including Colombia. This species is in danger of extinction due to deforestation, the destruction of its habitat. Recent studies have showed an increase of albino monkeys due to an increase of inbreeding due to the difficulty of the monkeys to travel to find other mates outside of their family circle (Leaño, 2015). The allelic frequency of this situation could be explained with the following hypothetic situation: In a population of 15 spider monkeys the dominant allele determines their black color, and the recessive allele defines their white color and albinism. Each monkey has both alleles, so they have a total of 30 alleles. Supposing that the number of dominant alleles is 10, in order to know the frequency of dominant alleles it is necessary to divide by the allele total: 10 = 0,33 30 And if the number of recessive alleles is 20, in order to know their frequency, it is also necessary to divide by the allele total: 20 = 0,67 30 In conclusion, the recessive allele, which defines the white color, is more frequent (67%) than the dominant (33%), which defines the black color. Now, when these allelic frequencies are applied to the Hardy-Weinberg equation, the result is 1. This is equivalent to 100% of the gene pool of that gene: 0,67 +0,67 0,332 + 2(0,33) Figure. Spider monkeys. One with the dark color allele, and the other one, an albino, with the recessive allele (Leaño, 2015). Learning Activity This activity will help you apply the Hardy-Weinberg equation to calculate the change of allelic frequencies of the Asian ladybug Harmonia axyridis. This species illustrates variations in their elytra color. There are different varieties such as dominant homozygote genotype “signata”. This variety has yellow elytra with black spots. The recessive homozygote genotype “aulica” has elytra with black borders and two yellow or orange ovals. Figure. Asian Ladybug Harmonia axyridis, important species in the study of allelic frequencies. Represents color variations (Molles, 2006). Suppose there is a population with 16 ladybugs. From these, 4 are aulica. Use the Hardy-Weinberg equation to determine the percentage of the ladybug population, which are heterozygote for the signata variety. Now, solve the proposed situation: What is the frequency of the recessive phenotype? Remember that this is obtained from the division of recessive alleles by the allele total. a. b. c. d. 0,35 or 35%. 0,55 or 55%. 0,45 or 45%. 0,25 or 25%. 2. What is the value for q? Find the square root q2. a. b. c. d. 0,3. 0,5. 0,5. 0,6. 3. What is the value for p? Remember that the sum of both alleles is 1. So, subtract 1 from the recessive allele frequency. a. b. c. d. 0,5. 0,4. 0,7. 0,3. 4. What is the percentage of the heterozygote population? Remember to calculate 2pk. a. b. c. d. The 0,4 or 40% of the population. The 0,5 or 50% of the population. The 0,8 or 80% of the population. The 0,3 or 30% of the population. Very important… A population, seen from a genetics point of view, is a group of organisms that mate and share a genetic pool. In this manner, it is proven that evolution is the result of the changes that occur in the composition of the genetic pool. The evolution of a population depends on its genetics. In order for evolution to occur, it is necessary for variations to develop within the organisms of a population. These variations allow populations subjected to different conditions to be different. There is no ideal variability, each population has its own and it changes throughout time and space (Curtis et al., 2007). Figure. the image represents a human population from a genetic point of view, in which variations through genetic variability are illustrated. Skill 4: investigate the concept of stochasticity. Skill 5: compare the impact of genetic derivation with natural selection. Skill 6: investigate examples of founder effect and bottleneck effect. STOCHASTICITY In a system where there were no disturbances, populations would grow to reach load capacity. However, all ecosystems have disturbances and have the capacity to function in these eventful and directionless situations. These situations are known as stochasticity, there are three main types: Environmental Stochasticity: refers to spontaneous environmental disturbances, caused by geologic, oceanographic, or meteorological conditions such as earthquakes, eruptions, hurricanes, or drastic weather changes. This type of stochasticity affects the survival and reproductive probability of individuals. It has a strong impact on large as well as on small communities, representing a risk of extinction for the species (Marín, 2019). Demographic Stochasticity: refers to changes in birth rate and mortality suffered by individuals of a population. These are caused by eventualities, such as an epidemic, or predation. This stochasticity affects the individuals of a population in a different way, due to its effect being able to be overcome in large populations. It has a major impact on small populations (Marín, 2019). Genetic Sochasticity: refers to disturbances that occur on genetic flow, which changes the genome of a population. This is the case of mutations, gene flow, preferred mating, meaning not random, and genetic drift (Molles, 2006). GENETIC DRIFT AND NATURAL SELECTION Genetic drift is a process that occurs mainly in small populations. In these, some alleles can increase or decrease their frequency, or even disappear as a result of chance. For this reason, genetic drift is relevant in the evolutionary course of populations. Nonetheless, its importance is relative when comparing it to the natural selection process. This comparison is still an ongoing debate among scientists. (Curtis et al., 2007). Natural selection is the process that occurs when individuals with certain characteristics have a survival and reproduction rate higher than other individuals. These characteristics are hereditary to the offspring. The genetic drift process is extremely important because without its variations, evolution would not take place. Therefore, in order to generate different alleles, eventful situations must take place, such as mutations and genetic recombination, which can allow, or not, an individual to survive and reproduce. The two main genetic drift situations, which demonstrate its importance, are: the founder effect and the bottleneck effect. The founder effect occurs when a new population is created from a small part of another original population. This happens, for example, when part of a continental population colonizes an island. The allelic frequencies of the new population could be different from the original. Figure. Graphically represents the founder effect, in which a new population is created from a small part of an original population (Curtis et al., 2007). Example of the founder effect: Learning Activity This activity will help to better understand concepts and characteristics related to stochasticity, natural selection, and genetic drift. Complete the following paragraphs with the corresponding concept: 1. As you know, ecosystems are subject to eventual and non-directional disturbances known as stochasticity. Complete the following paragraphs about the types of stochasticity. The Zebu, Brahman Americano, breed has existed in Colombia for over 100 years. It has been subjected to a continuous process of artificial selection, undergoing endogenic reproduction and prone to the founder effect. Animal migration between different farms and regions has homogenized the populations of the country. As a result, this zebu breed is genetically different from all other zebu breeds in the world (Novoa & Usaquén, 2006). The other genetic drift situation is the bottleneck effect. This happens when the number of individuals in a population is reduced drastically due to an event, which has little or no relation to the usual pressures of natural selection. In this manner, some alleles are eliminated, or in contrast they are found in excess (Curtis et al., 2007). Example of the bottleneck effect: Between 1820 and 1880, the sea elephant of the northern California coasts was almost hunted to extinction. Only close to 20 individuals remained. Since 1984, the population has been protected and it has increased its numbers to more than 30,000 descendants from that small group. Blood samples from sea elephant cubs show the large loss of genetic variability. The disadvantage of not being carriers of different allelic combinations is that this affects their probability, and that of their offspring, to reproduce and survive (Curtis et al., 2007). Figure. Represents one of the main cases of the bottleneck process, in which a population is reduced drastically and there is an effect in some of their alleles. a. Spontaneous situations caused by environmental disturbances such as earthquakes, hurricanes, and drastic weather changes are characteristic of ___________________ stochasticity. b. Mutations, gene flow, and ___________________ stochasticity. genetic drift are examples of 2. Natural selection and genetic drift contribute significantly to the evolution of populations. Complete the paragraph in order to describe the characteristics of natural selection or genetic drift. a. The ___________________ process occurs mainly in small populations in which the allelic frequencies increase, decrease, or disappear. b. In the ___________________ process there is an interaction between organisms and their environment. This is reflected in the survival and reproduction of individuals with specific characteristics The following are examples of founder and bottleneck effects. Complete the paragraphs with the corresponding process. a. Cheetahs enjoyed a broad distribution in Africa, Eurasia and North America until their population was diminished by the Pleistocene glacial period. From the remaining population larger and stronger cheetahs emerged. This is an example of ___________________. b. In the Galapagos Islands there are some species of lemurs, which origin is in Madagascar. It is unknown how the lemurs arrived on the island, but it is speculated that it was on natural rafts. This is an example of ___________________. Did you know that? The Mlabri community is a hunter-gatherer group, which lives in the jungles of Thailand, and it is apparently the only human community whose biologic founders could be determined. In 2005 DNA samples were taken from 300 people, from which 58 showed the same exact genetic sequence. This had never been seen in any other human population in the world, which suggests that this community was founded between 500 and 800 and it comes from a very small group of individuals (Oota et al., 2005). Figure. The Mlabri community is the only human community who knows its biologic founder. ABTRACT What is phenotype and genotype? Genotype is the genetic constitution of an organism. Phenotype is the group of observable, external characteristics of an individual. What is allelic frequency? Allelic frequency is the proportion of each allele, present in a specific population. It is the characteristic that should be considered to understand how genes are transmitted in a population. For what do you use the Hardy-Weinberg equation? The Hardy-Weinberg equation is used to measure the intensity and direction of change in the allelic and genotype frequencies. What is stochasticity and what types are there? Stochasticity, in biology, refers to disturbances, which occur in ecosystems. There are three main types: environmental, demographic, and genetic. What is the impact of genetic drift and natural selection in evolution? Natural selection is the process that takes place when individuals with certain characteristics have a higher survival and reproduction rate than other individuals. It acts together with genetic drift, which changes allelic frequencies in populations. In this manner, both represent an important role in evolution. What is founder effect and bottleneck effect? Founder effect and bottleneck effect are the two main genetic drift situations. The first occurs when a new population is formed, from part of another population. Bottleneck occurs when the number of individuals of a population is reduced drastically due to a sporadic event. HOMEWORK The homework will help apply the Hardy-Weinberg equation and interpret the use of its results in the health field. Get together with two other classmates and develop the following stages. Research Stage For this stage, use different information sources such as the school library; if possible consult with science or medical professionals. Research and list the genetic illnesses most common in Colombia. Choose one of those illnesses and find out the number of people who suffer from it in Colombia. Research about the specific causes, the symptoms, the complications, its treatment, and prevention, if it exists. Hardy-Weinberg equation application stage Take the number of people who suffer from the illness you chose and using the equation, obtain the percentage of the population carriers of the allele that causes the illness. Documentation and promotion stage In this stage you will write, in present time, a one-page report using the following content. Describe the illness chosen. Include the percentage of carriers of the allele that causes the illness and explain how you got the result from the equation. Write your conclusion explaining the importance of knowing the characteristics of the illness you chose and the importance of the mathematic tools used to find the incidence of the illness in the population. Include within the report the following words: genotype, phenotype, and allelic frequency in bold lettering. Share your document with your classmates and teacher. Keep in mind, which are the most common genetic illnesses in Colombia from your results and those of your classmates. EVALUATION 1. Match the following concepts related to the principles of genetics with the corresponding meaning. Concepts: Gene Dominant allele Evolution Recessive allele Genotype Phenotype Concept Meaning Hereditary unit found in DNA. An alternative form possible for the same gene. It manifests its phenotype in heterozygosis. Process through which organisms in a population change with time. An alternative form possible for the same gene. It manifests its phenotype only in homozygosis. The group of genes that an individual inherits from its parents. The group of external observable characteristics of an individual. Table. Concepts and meanings related to genetics with the corresponding meanings. 2. Organize the following sentences related to the concept of allelic frequency. Read them again to have the whole concept. (specific population.) (allelic frequency) (of each allele) (present in a) (it is also known as genetic frequency) (it is the proportion) (characteristics to keep in mind) (allelic frequency is) (how do they transmit) (in order to understand) (genes in a population.) 3. In this word search, look for the words needed to complete the necessary conditions to maintain the equilibrium of genetic frequency in a population, also known as Hardy-Weinberg equilibrium. Conditions to maintain the Hardy-Weinberg equilibrium: a. Random ______________. b. Absence of______________. c. Population infinitely ______________. d. Absence of displacement of individuals to the interior of the population, or absence of______________. e. Absence of displacement outside or absence of ______________. There is no effect on ______________ sample. a i t a v m o v e s e p y o m j o u j y u t a n o i c a r g i m y r j a t h g h e a o y e h n t i u i r u f r a j q p u t y t n g y m g n i t r t n e u s i n m i g r a c i o n e i y u f d y l u v e n d g i g f u w o j s t f u v u i p a s t i o i g r a n d e t i i y o n o n u y a o y y t n g a s d n n o t g o m u t a c i o n e s 4. Choose the following statements regarding the current situation of indigenous communities in relation to megaprojects, as false (F), true (T), or true, but miswritten (TM). a. Genetic drift is a process, which mainly occurs in large populations. In these, all alleles disappear by chance. ( ) b. Natural selection is the process that occurs when individuals with certain characteristics possess a higher rate of reproduction than others, and it works with genetic drift to ensure evolution. ( ) c. Genetic drifts occurred when there are changes in alleles. These will cause eventualities like: mutations, and genetic recombination. ( ) 5. Complete the following paragraphs to determine if they are founder effect or bottleneck effect cases: a. Hunting, habitat destruction, and intrusion of other animals have caused a decrease in the population of Galapagos Turtles, with the resulting reduction of their genetic diversity. This is an example of ___________________. b. The population of Sardinia, Italy, was born from the migration of individuals from Europe. After many generations, a study demonstrated that individuals presented a high rate of cholesterol, situation of genetic origin. This is an example of ___________________. GLOSSARY Load capacity: represented by the letter K, is the maximum number of individuals of a specific population that a concrete ecosystem can maintain. Diploids: a cell, an organism, or tissue that contains a double count of chromosomes, meaning, two sets of chromosomes. Elytra: the hard-shell wings of insects such as coleopterous and heteropterous. Evolution: process by which organisms of a population change with time. Involves changes in the frequency of hereditary features. In a synthetic manner, evolution is the change in genetic frequency of a population. Genotype: Genetic information of a particular organism, in the form of deoxyribonucleic acid, DNA. Generally, the genome of a species has numerous variations in its genes. REFERENCES Curtis, B., Barnes, S., Schnek, M. & Massarini, A. (2007). Biología (7a ed.). Editorial Panamericana. El Mundo. (2010). La fauna llegó a Madagascar en balsas naturales. Recuperado de http://www.elmundo.es/elmundo/2010/01/20/ciencia/1264011877.html Escobar, R., Escobar, F., Gallego, G., Cortes, D., Chávez, A., Bohorquez, A., Caicedo, A.L., Soto, M., Narváez, A., Lozano, E., Lugo, J. & Thhme, J. (2004). La biotecnología en el salón de clases: documento de trabajo para docentes de secundaria. Versión 1 (CD-ROM). Centro Internacional de Agricultura Tropical (CIAT), Cali, Colombia. FCV, UNNE. (2011). Revisión genética. Introducción a la Producción animal. Recuperado de https://ipafcv.files.wordpress.com/2011/05/revision-paramejoramiento-genetico.pdf Leaño, A. (2015). Monos araña albinos, señal de alarma. Recuperado de http://www.uniandes.edu.co/noticias/ciencias/monos-arana-albinos-senal-dealarma Molles, M. Jr. (2006). Ecología conceptos y aplicaciones (3ª ed.). Madrid: McGraw-Hill-Interamericana. Marín (2009). Arqueozoología en el cantábrico oriental durante la transición Pleistoceno/Holoceno. Cantabria: Publican Ediciones. Ovoa, M. & Usaquén, W. (2006). Diversidad genética de la población colombiana de ganado cebú Brahman americano bos indicus (Bovidae). Acta Biológica Colombiana, (11). Recuperado de http://www.revistas.unal.edu.co/index.php/actabiol/article/view/27635 Oota, H., Pakendorf, B., Weiss, G., Von Haesele, A., Pookajorn, S., Settheetham-Ishida, W., Tiwawech, D., Ishida, T. & Stoneking, M. (2005). Recent Origin and Cultural Reversion of a Hunter–Gatherer Group. PLOS Biology, 3 (3). Recuperado de http://journals.plos.org/plosbiology/article?id=10.1371/journal.pbio.0030071 Patil, C. & Biradar, P. (2011). Molecular Biology. APH Publishing Corporation. Oota, H., Pakendorf, B., Weiss, G., Von Haesele, A., Pookajorn, S., Settheetham-Ishida, W., Tiwawech, D., Ishida, T. & Stoneking, M. (2005). Recent Origin and Cultural Reversion of a Hunter–Gatherer Group. PLOS Biology, 3 (3).