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Chapter 11: Introduction to Genetics Section 11-1: The Work of Gregor Mendel • Every living thing—plant or animal, microbe or human being– has a set of characteristics inherited from its parent or parents. • Since the beginning of recorded history, people have wanted to understand how that inheritance is passed from generation to generation. • More recently, scientists have begun to appreciate that heredity holds the key to understanding what makes each species unique. • As a result, genetics, the scientific study of heredity, is now at the core of a revolution in understanding biology. Gregor Mendel’s Peas • The work of an Austrian monk named Gregor Mendel was particularly important to understanding biological inheritance. • Mendel was born in 1822 in what is now the Czech Republic. • After becoming a priest, Mendel spent several years studying science and mathematics at the University of Vienna. • He spent the next 14 years working in the monastery and teaching at the high school. • In addition to his teaching duties, Mendel was in charge of the monastery garden. • In this ordinary garden, he was to do the work that changed biology forever. • Mendel worked with garden peas. • Like many plants, pea plants use parts of their flowers to reproduce. • The male part of each flower produces pollen– which contains male sex cells. • The female part of the flower produces eggs– female sex cells. • When pollen fertilizes an egg cell, a seed for a new plant is formed. • Pea plants normally reproduce by selfpollination, in which pollen fertilizes the egg cells in the very same flower. • Seeds that are produced by self-pollination inherit all of their characteristics from the single plant that bore them. • In effect, they have only one parent. • When Mendel took charge of the monastery garden, he had several different stocks of pea plants. • These peas were true-breeding, meaning that if they were allowed to self-pollinate, they would produce offspring identical to themselves. • One stock of seeds would produce only tall plants, another only short plants. • One stock produced only green seeds, another only yellow seeds. • These true-breeding plants were the basis of Mendel’s experiments. • Pea plants can also cross-pollinate. • In cross-pollination, male sex cells in pollen from the the flower on one plant fertilize the egg cells of a flower on another plant. • The seeds produced from cross-pollination have two plants as parents. • To perform his experiments, Mendel has to select the pea plants that he would mate with each other. • Mendel would have to prevent the pea flowers from self-pollinating and control their cross-pollination. • Mendel accomplished this task my first cutting away the male parts of a flower. • Then, he dusted that flower with pollen from a second flower. • The resulting seeds were crosses between the 2 plants. Genes & Dominance • Mendel studied seven different pea plant traits. • A trait is a specific characteristic, such as seed color or plant height, that varies from one individual to another. • Each of the seven traits Mendel studied had two contrasting characters, for example, green seed color and yellow seed color. • Mendel crossed plants with each of the 7 contrasting characters and studied their offspring. • Mendel called each original pair of plants the P (parental) generation. • He called the offspring the F1, or “first filial,” generation. • Filius is the Latin word for “son.” • The offspring of crosses between parents with different traits are called hybrids. Figure 11-3 Mendel’s Seven F1 Crosses on Pea Plants Section 11-1 Go to Section: Seed Coat Color Pod Shape Seed Shape Seed Color Round Yellow Gray Wrinkled Green White Constricted Round Yellow Gray Smooth Smooth Pod Color Green Flower Position Plant Height Axial Tall Yellow Terminal Short Green Axial Tall • What were the F1 hybrid plants like? • Did the characters of the parent plants blend in the offspring? • To Mendel’s surprise, all of the offspring had the character of only one of the parents. • In each cross, the character of the other parent seemed to have disappeared. • From this set of experiments, Mendel drew two conclusions. • Mendel’s 1st conclusion was that biological inheritance is determined by factors that are passed from one generation to the next. • Today, scientists call the chemical factors that determine traits genes. • Each of the traits Mendel studied was controlled by one gene that occurred in 2 contrasting forms. • These contrasting forms produced the different characters of each trait. • For example, the gene for plant height occurs in one form that produces tall plants and in another form that produces short plants. • The different forms of a gene are called alleles. • Mendel’s 2nd conclusion is called the principle of dominance. • The principle of dominance states that some alleles are dominant and others are recessive. • An organism with a dominant allele for a particular form of a trait will always have that form. • An organism with a recessive allele for a particular form of a trait will have that form only when the dominant allele for a trait is not present. • In Mendel’s experiments, the allele for tall plants was dominant and the allele for short plants was recessive. • The allele for yellow seeds was dominant, while the allele for green seeds was recessive. Segregation • Mendel wanted to answer another question: Had the recessive alleles disappeared, or were they still present in the F1 plants? • To answer this question, he allowed all 7 kinds of F1 hybrid plants to produce an F2 (second filial) generation by selfpollination. • He crossed the F1 generation with itself to produce the F2 offspring as shown in the next figure. Principles of Dominance Section 11-1 P Generation Tall Go to Section: Short F1 Generation Tall Tall F2 Generation Tall Tall Tall Short • The F1 cross showed that the traits controlled by the recessive alleles reappeared. • Roughly ¼ of the F2 plants showed the trait controlled by the recessive allele. • What caused these recessive alleles to seemingly disappear in the F1 generation and then reappear in the F2 generation? • Mendel assumed that a dominant allele had masked the corresponding recessive allele in the F1 generation. • However, the trait controlled by the recessive allele showed up in some of the F2 plants. • This reappearance indicated that at some point the allele for shortness had been separated from the allele for tallness. • How did this segregation occur? • Mendel suggested that the alleles for tallness and shortness in the F1 plants were segregated from each other during the formation of the sex cells, or gametes. • Segregation– the separation of alleles during gamete formation. • Let’s assume that the F1 plants inherited an allele for tallness from one parent and an allele for shortness from the other parent. • Because the allele for tallness is dominant, all the F1 plants are tall. • When each F1 plant flowers, the 2 alleles are segregated from each other so that each gamete carries only a single copy of each gene. • Each F1 plant produces two types of gametes– those will the allele for tallness and those with the allele for shortness. Section 11-2: Probability & Punnett Squares • Whenever Mendel performed a cross with pea plants, he carefully counted the offspring. • Every time Mendel repeated a particular cross, he obtained similar results. • For example, whenever Mendel crossed 2 plants that were hybrid for stem height (Tt), about ¾ of the resulting plants were tall and about ¼ were short. • Mendel realized that the principles of probability could be used to explain the results of genetic crosses. Genetics and Probability • The likelihood that a particular event will occur is called probability. • As an example of probability, consider a coin flip. • There are 2 possible outcomes: The coin may land heads up or tails up. • The chances, or probabilities, of either outcome are equal. • The probability that a single coin flip will come up heads is 1 chance in 2. • This is ½ or 50%. • If you flip a coin 3 times in a row, what is the probability that it will land heads up every time? • Because each flip is an independent event, the probability of each coin’s landing heads up is ½. • The probability of flipping 3 heads in a row is: • ½ x ½ x ½ = 1/8 • The fact that the individual probabilities are multiplied together illustrates an important point– past outcomes do not affect future ones. • The way in which alleles segregate is completely random, like a coin flip. • The principles of probability can be used to predict the outcomes of genetic crosses. Punnett Squares • The gene combinations that might result from a genetic cross can be determined by drawing a diagram known as a Punnett Square. • The types of gametes produced by each F1 parent are shown along the top and left sides of the square. • The letters in the Punnett square represent alleles: capital letters for dominant alleles and lowercase letters for recessive alleles. Section 11-2 Go to Section: Tt X Tt Cross • Organisms that have 2 identical alleles for a particular trait– TT or tt in the example– are said to be homozygous. • Organisms that have 2 different alleles for the same trait– Tt in the example– are heterozygous. • Homozygous organisms are true-breeding for a particular trait. • Heterozygous organisms are hybrid for a particular trait. • All of the tall plants have the same phenotype, or physical characteristics. • They do not have the same genotype, or genetic makeup. • Some tall plants are homozygous for the trait, while others are heterozygous. Probability & Segregation • Referring back to the Punnett square we’ve been using as an example, we see that ¼ of the F2 plants have 2 alleles for tallness (TT), and 2/4, or ½, of the F2 plants have one allele for tallness and one allele for shortness (Tt). • Because the allele for tallness is dominant, over the allele for shortness, ¾ of the F2 plants should be tall. • Overall, there are 3 tall plants for every 1 short plant in the F2 generation. • The ratio of tall plants to short plants is 3:1. • Mendel’s data did fit his model. • The predicted ratio– 3 dominant to 1 recessive– showed up consistently, indicating that Mendel’s assumptions about segregation had been correct. Probabilities Predict Averages • Probabilities predict the average outcome of a large number of events. • Probability cannot predict the precise outcome of an individual event. • If you flip a coin twice, you are likely to get one head and one tail. • However, you might also get two heads or two tails. • To be sure of getting the expected 50:50 ratio, you would have to flip the coin many times. • The same is true of genetics. • The larger the number of individuals, the closer the resulting offspring numbers will get to expected values. • If an F1 generation contains just 3 or 4 offspring, it may not match Mendelian predictions. • When an F1 generation contains hundreds or thousands of individuals, the ratios usually come very close to matching expectations. Section 11-3: Exploring Mendelian Genetics • After showing that alleles segregate during the formation of gametes, Mendel wondered if they did so independently. • In other words, does the segregation of one pair of alleles affect the segregation of another pair of alleles? • For example, does the gene that determines whether a seed is round or wrinkled in shape have anything to do with the gene for seed color? • Must a round seed also be yellow? Independent Assortment • First, Mendel crossed true-breeding plants that produced only round yellow peas (RRYY) with plants that produced wrinkled green peas (rryy). • All of the F1 offspring produced round yellow peas. • This shows that the alleles for yellow and round peas are dominant over the alleles for green and wrinkled peas. • The genotype of each of these F1 plants would be RrYy. • This provides the hybrid plants needed for the next cross– the cross of F1 plants to produce the F2 generation. • How would the alleles segregate when the F1 plants were crossed to each other to produce an F2 generation? • Remember that each plant in the F1 generation was formed by the fusion of a gamete carrying the dominant RY alleles with another gamete carrying the recessive ry alleles. • Did this mean that the 2 dominant alleles would always stay together? • Or would they segregate independently, so that any combination of alleles was possible? • The result of the cross was that some of the seeds had combinations of the phenotypes– and therefore combinations of the alleles– not found in either parent. • This clearly meant that the alleles for seed shape segregated independently of those for seed color– a principle known as independent assortment. • Independent assortment– independent segregation of genes during the formation of gametes. Figure 11-10 Independent Assortment in Peas Section 11-3 Go to Section: • Genes that segregate independently– such as the genes for seed shape and seed color in pea plants– do not influence each other’s inheritance. • Mendel’s experimental results were very close to the 9: 3: 3: 1 ratio that the Punnett square predicts. A Summary of Mendel’s Principles • 1.) The inheritance of biological characteristics is determined by individual units known as genes. In organisms that reproduce sexually, genes are passed from parents to their offspring. • 2.) In cases in which 2 or more forms of the gene for a single trait exist, some forms of the gene may be dominant and others may be recessive. • 3.) In most sexually reproducing organisms, each adult has 2 copies of each gene– one from each parent. These genes are segregated from each other when gametes are formed. • 4.) The alleles for different genes usually segregate independently of one another. Beyond Dominant & Recessive Alleles • Despite the importance of Mendel’s work, it would be a mistake to characterize the principles he discovered as “laws,” because there are important exceptions to most of them. • Not all genes show simple patterns of dominant and recessive alleles. • In most organisms, genetics is more complicated because the majority of genes have more than two alleles. • Some alleles are neither dominant nor recessive, and many traits are controlled by multiple alleles or multiple genes. Incomplete Dominance • A cross between 2 four o’clock (Mirabilis) plants shows one of these complications. • The F1 generation produced by a cross between red-flowered (RR) and whiteflowered (WW) plants consists of pinkcolored flowers (RW). • Which allele is dominant in this case? Figure 11-11 Incomplete Dominance in Four O’Clock Flowers Section 11-3 Go to Section: • Neither allele is dominant in this case. • Cases in which one allele is not completely dominant over another are called incomplete dominance. • In incomplete dominance, the heterozygous phenotype is somewhere in between the two homozygous phenotypes. Codominance • Codominance is a situation in which both alleles contribute to the phenotype of the organism. • For example, in cattle the allele for red hair is codominant with the allele for white hair. • Cattle with both alleles are roan, or pinkish brown, because their coats are a mixture of both red and white hairs. • In certain varieties of chickens, the allele for black feathers is codominant with the allele for white feathers. • Heterozygous chickens appear speckled with black and white feathers. Multiple Alleles • Many genes have more than two alleles and are therefore said to have multiple alleles. • This does not mean that an individual can have more than two alleles. • It only means that more than 2 possible alleles exist in a population. • One of the best known examples is coat color in rabbits. • A rabbit’s coat color is determined by a single gene that has at least 4 different alleles. • The four known alleles display a pattern of simple dominance that can produce four possible coat colors. • Many other genes have multiple alleles, including the human genes for blood type and eye color. Polygenic Traits • Many traits are produced by the interaction of several genes. • Traits controlled by 2 or more genes are said to be polygenic traits, which means “having many genes.” • For example, at least 3 genes are involved in making the reddish-brown pigment in the eyes of fruit flies. • Different combinations of alleles for these genes produce very different eye colors. • Polygenic traits often show a wide range of phenotypes. • For example, the wide range of skin color in humans comes about partly because more than 4 different genes probably control this trait. Applying Mendel’s Principles • Mendel’s principles don’t apply only to plants. • At the beginning of the 1900’s, the American geneticist Thomas Hunt Morgan decided to look for a model organism to advance the study of genetics. • He wanted an animal that was small, easy to keep in the laboratory, and able to produce large numbers of offspring in a short period of time. • He decided to work on a tiny insect that kept showing up, uninvited, in his laboratory. • The insect was the common fruitfly, Drosophila melanogaster. • Drosophila was an ideal organism for genetics because it could produce plenty of offspring, and it did so quickly. • Mendel’s principles also apply to humans. • The basic principles of Mendelian genetics can be used to study the inheritance of human traits and to calculate the probability of certain traits appearing in the next generation. Section 11-4: Meiosis • Gregor Mendel did not know where the genes he had discovered were located in the cell. • Fortunately, his predictions of how genes should behave were so specific that it was not long before biologists were certain they had found them. • Genes are located on chromosomes in the cell nucleus. • Mendel’s principles of genetics require at least two things. • First, each organism must inherit a single copy of every gene from both its “parents.” • Because each pea plant has two parents, each plant must carry two complete sets of genes. • Second, when an organism produces its own gametes, those two sets of genes must be separated from each other so that each gamete contains just one set of genes. • This means that when gametes are formed, there must be a process that separates the two sets of genes so that each gamete ends up with just one set. • Although Mendel didn’t know it, gametes are formed through exactly such a process. Chromosome Number • Let’s consider the fruit fly. • A body cell in an adult fruit fly has 8 chromosomes. • Four of the chromosomes came from the fruit fly’s male parent, and 4 came from its female parent. • These two sets of chromosomes are homologous, meaning that each of the 4 chromosomes that came from the male parent has a corresponding chromosome from the female parent. • A cell that contains both sets of homologous chromosomes is said to be diploid, which means “2 sets.” • The number of chromosomes in a diploid cell is sometimes represented by the symbol 2N. • Diploid cells contain two complete sets of chromosomes and two complete sets of genes. • Meiosis involves two successive divisions of a diploid nucleus following only one DNA replication cycle. • By contrast, the gametes of sexually reproducing organisms contain only a single set of chromosomes and only a single set of genes. • These cells are said to be haploid. • Haploid means “one set.” Phases of Meiosis • How are haploid (N) gamete cells produced from diploid (2N) cells? • That’s where meiosis comes into play. • Meiosis is a process of reduction division in which the number of chromosomes per cell is cut in half through the separation of homologous chromosomes in a diploid cell. • Meiosis usually involves two distinct stages: the first meiotic division, called meiosis I, and the second meiotic division, called meiosis II. • By the end of meiosis II, the diploid cell that entered meiosis has become 4 haploid cells. Meiosis I • Prior to meiosis I, each chromosome is replicated. • The cells then begin to divide in a way that looks similar to mitosis. • Remember, in mitosis, the chromosomes line up individually in the center of the cell. • The 2 chromatids that make up each chromosome then separate from each other. • In prophase of meiosis I, each chromosome pairs with its corresponding homologous chromosome to form a structure called a tetrad. • There are 4 chromatids in a tetrad. • As homologous chromosomes pair up and form tetrads in meiosis I, they may exchange portions of their chromatids in a process called crossing-over. • Crossing over results in the exchange of alleles between homologuous chromosomes and produces new combinations of alleles. Crossing-Over Section 11-4 Go to Section: • Next, the homologous chromosomes separate, and two new cells are formed. • Because each pair of homologous chromosomes was separated, neither of the daughter cells has the 2 complete sets of chromosomes that it would have in a diploid cell. • The result of meiosis I is two cells. • The two cells produced by meiosis I have sets of chromosomes that are different from each other and from the diploid cell that entered meiosis I. • During meiosis I, the parent cell produces two daughter cells, each with one member of each pair of homologous chromosomes. • Chromosome number has been halved, but each chromosome, having been replicated earlier, has twice the original amount of DNA. Meiosis II • The 2 cells produced by meiosis I now enter a second meiotic division. • Unlike the first division, neither cell goes through a round of chromosome replication before entering meiosis II. • Remember, each of the cell’s chromosomes has 2 chromatids. • During metaphase II of meiosis, the chromosomes line up in the center of each cell. • In anaphase II, the paired chromatids separate. • Each of the 4 daughter cells produced in meiosis II receives a chromatid from each chromosome lined up at the plate. • Keep in mind, these four daughter cells now contain the haploid (N) number of chromosomes. • Each of the 4 daughter cells has one chromosome from each homologous pair of chromosomes. • Remember, however, that these chromosomes are not exact copies of the original chromosomes because of the crossing-over that occurs between chromosomes during meiosis I. Gamete Formation • In male animals, the production of the gametes is called spermatogenesis because the 4 mature male gametes are referred to as sperm. • In female animals, the production of the gametes is called oogenesis because the 1 mature female gamete is referred to as the ovum (egg). • In female animals, generally only one of the cells produced by meiosis is involved in reproduction. • In many females, the cell divisions at the end of meiosis I and meiosis II are uneven, so the 1 ovum, or egg, receives most of the cytoplasm. • The other 3 cells produced in the female during meiosis are known as polar bodies and usually do not participate in reproduction. Comparing Mitosis & Meiosis • The names of these two events are very similar, but in fact, the processes are very different. • Mitosis results in the production of 2 genetically identical diploid cells. • Meiosis results in 4 genetically different haploid cells.