Mende ian Genetcs. MAIN ~ Mendel explained how a dominant allele can mask the presence of a recessive allele. How Genetics Began
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1 ctiofl 2 ~eadim9 Preview Essent~ questions p what is the significance of Mendel s experim~ts to thestudy of genetics? what is the law ofrsegregation and the law of independent assortment? i whatarethepo55~e offspring from a cross usi a Punnett square? - Review vocabulary 5~gregati~ the separation of allelic genes that typically occurs during meiosis New vocabulary genetics allele dominant recessive homozygous heterozygous genotype phenotype law of segregation hybrid law of independent assortment Mu lingual eglossary Figure 7 Gregor Mendel is known as the father of genetics. ICI I UiY9 it). I: Mende ian Genetcs MAIN ~ Mendel explained how a dominant allele can mask the presence of a recessive allele. Real-World Reading Link There are many different breeds of dogs, such as Labrador retrievers, dachshunds, German shepherds, and poodles. You might like a certain breed of dog because of its height, coat color, and general appearance. These traits are passed from generation to generation. How Genetics Began In 1866, Gregor Mendel, an Austrian monk and a plant breeder, published his findings on the method of inheritance in garden pea plants. The pass ing of traits to the next generation is called inheritance, or heredity. Mendel, shown in Figure 7, was successful in sorting out the mystery of inheritance because of the organism he chose for his study the pea plant. Pea plants are true-breeding, meaning that they consistently produce off spring with only one form of a trait. Pea plants usually reproduce by self-fertilization. A common occur rence in many flowering plants, self-fertilization occurs when a male gamete within a flower combines with a female gamete in the same flower. Mendel also discovered that pea plants could easily be crosspollinated by hand. Mendel performed cross-pollination by transfer ring a male gamete from the flower of one pea plant to the female reproductive organ in a flower of another pea plant. Connection History Mendel rigorously followed various traits in the pea plants he.red. He analyzed the results of his experiments and formed hypotheses concerning how the traits were inherited. The study of genetics, which is the science of heredity, began with Mendel, who is regarded as the father of genetics. Reading Check Infer why it is important that Mendel s experiments used a true-breeding plant. S pt c. ct The Inheritance of Traits Mendel noticed that certain varieties of garden pea plants produced specific forms of a trait, generation after generation. For instance, he noticed that some varieties always produced green seeds and others always produced yellow seeds. In order to understand how these traits are inherited, Mendel performed cross-pollination by transferring male gam etes from the flower of a true-breeding green-seed plant to the female organ of a flower from a true-breeding yellow-seed plant. To prevent self fertilization, Mendel removed the male organs from the flower of the yellow seed plant. Mendel called the green seed plant and the yellow-seed plant the parent generation also known as the P generation. Section 2 Mendelian Genetics 277
2 Figure 8 The results of Mendel s cross involving true-breeding pea plants with yellow seeds and green seeds are shown here. Explain why the seeds in the F, generation were all yellow Generation (P) (pure-breeding) Yellow peas (male) x Green peas (female) Concepts in Motion Jr Animation First filial generation (F1) All yellow Self-fertilization I Second filial generation (F2) 622 yellow :21 3:1 Video BrainPOP CAREERS IN BIOLOGY Genetics Laboratory Technician A technician in a genetics laboratory assists a researcher by conducting experiments and helping to maintain the lab. F1 and F2 generations When Mendel grew the seeds from the cross between the green-seed and yellow-seed plants, all of the res offspring had yellow seeds. The offspring of this P cross are called t first filial (F1) generation. The green-seed trait seemed to have disap. peared in the F1 generation~ and Mendel decided to investigate whe the trait was no longer present or whether it was hidden, or masked. Mendel planted the F1 generation of yellow seeds, allowed the plan to grow and self-fertilize, and then examined the seeds from this The results of the second filial (F2) generation the offspring from cross are shown in Figure 8. Of the seeds Mendel collected, 622~s yellow and 21 were green~ which almost is a perfect 3:1 ratio of yel to green seeds. Mendel studied seven different traits seed or pea color, flower color, seed pod color, seed shape or texture, seed pod shape, stem length, and flower position and found that the F2 generation plan from these crosses also showed a 3:1 ratio. Genes in pairs Mendel concluded that there must be two forms the seed trait in the pea plants_yellow-seed and green~seed_ah1dlt each was controlled by a factor, which now is called an allele. An is defined as an alternative form of a single gene passed from gene~ tion to generation. Therefore, the gene for yellow seeds and the green seeds are each different forms of a single gene. Mendel concluded that the 3:1 ratio observed during his expctl could be explained if the alleles were paired in each of the plans H called the form of the trait that appeared in the F, generation do and the form of the trait that was masked in the F1 generation In the cross between yellow-seed plants and green-seed plant5~ the) low seed was the dominant form of the trait and the green seed W~5 recessive form of the trait. 278 chapter 1 Sexual Reproduction and Genetics
3 gre~ king he er tie onlinail When he allowed the F1 generation to self-fertilize, jendel showed that the recessive allele for green seeds had not disap ared but was masked. Mendel concluded that the green-seed form of trait did not show up in the F1 generation because the yellow-seed form of the trait is dominant and masks the allele for the green seed form of the trait. When modeling inheritance, the dominant allele is represented by a capital letter, and the recessive allele is represented by a lowercase let ter. An organism with two of the same alleles for a particular trait is homozth ~ (ho muh ZI gus) for that trait. Homozygous, yellow seed lards are YY and green-seed plants are yy. An organism with two differ ~nt alleles for a particular trait is heterozygous (heh tuh roh ZY gus) for that trait, in this case Yy. When alleles are present in the heterozygous state, the dominant trait will be observed. GenotYPe and phenotype A yellow-seed plant could be homozy gous or heterozygous for the trait form. The outward appearance of an organism dbes not always indicate which pair of alleles is present. The organism s~de pairs are called its genotype. In the case of plants with yellow seeds,their genotypes could be YY or Yy. The observable charac teristic or ~htward expression of an allele pair is called the phenotype. The phenotype of pea plants with the genotype yy will be green seeds. Mendel ~!aw of segregation Mendel used homozygous yellow-see4~hd green-seed plants in his P cross. In Figure 9(A), the top drawingshcws that each gamete from the yellow seed plant contains one Recall that~thë chromosome number is divided in half during meiosis. The resulting gai~hetes contain only one of the pair of seed-color alleles. The bo~~pm.drawing in Figure 9(A) shows that each gamete from the green-seedi~lant contains one y allele. Mendel s law of segregation states that the two alleles for each trait separate during meiosis. During fertil ization, two~alleles for that trait unite. The third drawing in Figure 9(B) shows the alleles uniting to produce the genotype Yy during fertilization. All resulting F1 generation plants will have the genotype Yy and will have yellow seeds because yellow is domi nant to green These heterozygous organisms are called hybrids. VOCABULARY WORD ORIGIN Homozygous and Heterozygous come from the Greek words homos, meaning the same; hetero, meaning other or different; and zygon, meaning yoke Figure 9 During gamete formation in the YYor yy plant, the two alleles separate, resulting in Yoryin the gametes. Gametes from each parent unite during fertilization. YYyellow pe Grows into plant Gamete formation Gametes (pollen or eggs) Gametes (one pollen grain and one egg) Fertilization Seed F1 Hybrid development e rows into plant )Ygreen pea Gamete formation Gamete formation Fertilization Zygote Y= yellow-determining allele y= green-determining allele Yy= yellow pea showing dominant trait Section 2 Mendelian Genetics 279
4 P Yellow pea w Green pea 1~ I F1 F2 ~. Male gamete N Female gamete V Yellow pea Male... Female Self-fertilization 1 Yellow peas Green pea Figure 1 During the F1 generation self-fertilization, the male gametes randomly fertilize the female gametes. Figure 11 The law of independent assortment is demonstrated in the dihybrid crass by the equal chance that each pair of alleles (Yy and Rr) can randomly combine with each other. Predict how many possible gamete types are produced. Alleles in Gamete Possible allele parental formation combinations cell in gametes Monohybrid cross The diagram in Figure 1 shows how Mendel continued his experiments by allowing the Yy ~ self-fertilize. A cross such as this one that involves hybri~ for single trait is called a monohybrid cross. The Yy plants Prod two types of gametes male and female each with either the or y allele. The combining of these gametes is a ran omeveni This random fertilization of male and female gametes resnj~. the following genotypes YY, Yy, Yy, or yy, as shown in Figur~1 Notice that the dominant Y allele is written first, whether it came from the male or female gamete. In Mendel s F1 cross, there are three possible genotypes: YY, Yy, and yy; and the typic ratio is 1:2:1. The phenotypic ratio is 3:1 yello seethto green seeds. Dijiybrid cross Once Mendel established inheritance pat. terns of a single trait, he began to examine simultaneous inheritance of two or more traits in the same plant. In gard peas, round seeds (R) are dominant to wrinkled seeds (r), yellow seeds (Y) are dominant to green seeds (y). If Mendel crossed homozygous yellow, round-seed pea plants with homozygous green, wrinkle-seed pea plants, the P cross co be represented by YYRR x yyrr. The F1 generation genotype would be YyRr yellow, round-seed plants. These F1-genera. tion plants are called dihybrids because they are heterozygo for both traits. Law of independent assortment Mendel allowed F pea plants with the genotype YyRr to self-fertilize in a dihyb cross. Mendel calculated the genotypic and phenotypic rat of the offspring in both the F1 and F2 generations. From results, he developed the law of independent assortment which states that a random distribution of alleles occurs dim ing gamete formation. Genes on separate chromosomes sort independently during meiosis. As shown in Figure 11, the random assortment of alleles results in four possible gametes: YR, Yr, yr or yr, each of wh equally likely to occur. When a plant self-fertilizes, any of the four allele combinations could be present in the male gamete, and any of the four combinations could be present in the fern gamete. The results of Mendel s dihybrid cross included nine different genotypes: YYRR, YYRr, YYrr, YyRR, YyRr, Yyrr~ yy yyrr, and yyrr. He counted and recorded four different pheno types: 315 yellow round, 18 green round, 11 yellow wri and 32 green wrinkled. These results represent a phenotyp ratio of approximately Reading Check Evaluate How can the random distrib of alleles result in a predictable ratio? yr+ yr~ Punnett Squares In the early 19s, Dr. Reginald Punnett developed what is known as a Punnett square to predict the possible ffspiinig cross between two known genotypes. Punnett squares maket easier to keep track of the possible genotypes involved in a 2 Chapter 1 Sexual Reproduction and Genetics
5 T = Ability to roll tongue t = Inability to roll tongue Gamete types x Tt O Gamete types L_h --$t + 4 o-- Tt rid punnett uare monohybrid cross Can you roll your tongue like the person pictured in Figure 12? Tongue-rolling ability is a dominant trait, which can be represented by T Suppose both parents can roll their tongues and are heterozygous (Tt) for the trait. What possible phenotypes could their children have? Examine the Punnett square in Figure 12. The number of squares is determined by the number of different types of alleles T or t pro duced by each parent. In this case, the square is 2 squares x 2 squares because each parent produces two different types of gametes. Notice that the male gametes are written across the horizontal side and the female gametes are written on the vertical side of the Punnett square. The possible combinations of each male and female gamete are written on the inside of each corresponding square. Figure 12 The ability to roll one s tongue is a dominant trait. The Punnett square is a visual summary of the possible combinations of the alleles for the tongue-rolling trait. Review Inquiry Personal Tutor Virtual Lab.13.1 Predict Probability in Genetics nquiry Minilab How can an offspring s traits be predicted? A Punnett square can help predict ratios of dominant traits to recessive traits in the genotype of offspring. This lab involves two parents who are both het erozygous for free earlobes (E), which is a dominant trait. The recessive trait is attached earlobes (e). Procedure 1. Read and complete the lab safety form. 2. Determine the gamete genotype(s) for this trait that each parent contributes. 3. Draw a Punnett square that has the same number of columns and the same number of rows as the number of alleles contributed for this trait by the gametes of each parent. 4. Write the alphabetical letter for each allele from one parent just above each column, and write the alphabetical letter for each allele from the other parent just to the left of each row. 5. In the boxes within the table, write the genotype of the offspring resulting from each combination of male and female alleles. Analysis 1. Summarize the possible offspring phenotypes that could occur. 2. Evaluate the phenotypic ratio of the possible offspring. What is the genotypic ratio of the possible offspring? Section 2 Mendelian Genetics 281
6 P YYRR yyrr I Gametes YR yr F1 (all identical) Female YyRr F2 YR Yr yr flflflfl Type Genotype Phenotype Number Phenotypic Ratio yellow Y R round 315 9:16 green Recombinant yyr round 18 3:16 yellow Recombinant V rr wrinkled 11 Male YyRr / green flit wrinkled 32 3:16 1:16 Figure 13 The dihybrid Punnett square visually presents the possible combinations of the possible alleles from each parent. How many different genotypes are found i~ Punnett square? One square has TT two squares Tt, and one square has tt. Therefore, the genoty.pi ratio of the possible offspring is 1:2:1. The pheno ratio of tongue rollers to non tongue rollers is 3:1. Punnett square dihybrid cross Now examine the Punnett square in Figure 13. Noti that in the P cross, only two types of alleles are duced. However, in the dihybrid cross when F1 generation is crossed four types of alleles ft the male gametes and four types of alleles from female gametes can be produced. The resulting phenotypic ratio is 9:3:3:1 9 yellow round to 3 round to 3 yellow wrinkled to 1 green wrinkjed Mendel s data closely matched the outcome pred by the Punnett square. Pro ability The inheritance of genes can be compared to th probability of flipping a coin. The o coin landing on heads is 1 out of 2, or 1/2. If the same coin is flipped twice, the o landing on heads is 1/2 each time or 1/2 x 1/2, 1/4 both times. Actual data might not perfectly match the p dicted ratios. You know that if you flip a coin yo might not get heads 1 out of 2 times. Mendel s results were not exactly a 9:3:3:1 ratio. However, larger the number of offspring involved in a cr the more likely it will match the results predict by the Punnett square. Section 2 Section Summary I The study of genetics began with Gregor Mendel, whose experiments with garden pea plants gave insight into the inherita of traits. I Mendel developed the law of segregation and the law of independent assortment. I Punnett squares help predict the offspring of a cross. Assessment Understand Main Ideas 1. ~ Diagram Use a Punnett square to explain how a dominan allele masks the presence of a recessive allele. 2. Apply the law of segregation and the law of independent assortment giving an example of each. 3. Use a Punnett square In fruit flies, red eyes (R) are dominant to pink eyes (r). What is the phenotypic ratio of a cross between a heterozygous male and a pink-eyed female? Think Critically 4. Evaluate the significance of Mendel s work to the field of genetics. MATH in Biology 5. What is the probability of rolling a 2 on a six-sided die? What is the p bility of rolling two 2s on two six-sided die? How is probability used in study of genetics? 282 Chapter 1 Sexual Reproduction and Genetics Assessment Online
7 di 3 neadii~9 preview Essential Questions p How does the process of melosis produce genetic recombination? How can gene linkage beused to create chromosome maps? e ~ Why is polyploidy important-tothe field of agriculture? ed :.it the 3nt Review Vocabulary protein: large, complex polymer essential to all life that provides structure for tissues and organs and helps carry out cell metabolism New Vocabulary genetic recombination polyploidy Multilin eg Figure 14 Genes that are linked together the same chromosome usually travel together in the gamete. Calculate the number of possible corn binations if two or three of these gam etes were to combine. Gene Linkage and Polyploidy MAIN ~ The crossing over of linked genes is a source of genetic variation. Real-World Reading Link You might have seen many varieties of roses at a garden center that range in color from red to pink to white. Plant breeders use scientists knowledge of genes to vary certain characteristics in an effort to make their roses unique. Genetic Recombination Connection The new combination of genes produced by crossing over and independent assortment is called genetic recombi nation. The possible combinations of genes due to independent assort ment can be calculated using the formula 2 ~, where n is the number of chromosome pairs. For example, pea plants have seven pairs of chro mosomes. For seven pairs of chromosomes, the possible combinations are 2~, or 128 combinations. Because any possible male gamete can fer tilize any possible female gamete, the number of possible combinations after fertilization is 16,384 (128 x 128). In humans, the possible number of combinations after fertilization would be 223 x 223, or more than 7 trillion. This number does not include the amount of genetic recom bination produced by crossing over. Gene Linkage Chromosomes contain multiple genes that code for proteins. Genes that are located close to each other on the same chromosome are said to be linked and usually travel together during gamete formation. Follow closely related genes A and B in Figure 14 through the process of meio sis. The linkage of genes on a chromosome results in an exception to Mendel s law of independent assortment because linked genes usually do not segregate independently. Meiosis I Meiosis II Homologs separate A Replicated homoiogous thromosom~ Centromeres separate and gametes form A a a Section 3 Gene Linkage and Polyploidy 283
8 Figure 15 This chromosome map of the X chromosome of the fruit fly Drosophila melanogaster was created in Gene linkage was first studied using the fruit fly Drosophila melanogaster. Thousands of crosses confirmed that linked genes usu. ally traveled together during meiosis. However, some results revealeti that linked genes do not always travel together during meiosis. Scien. tists concluded that linked genes can separate during crossing over. Chromosome maps Crossing over occurs more frequently genes that are far apart than those that are close together. A drawing a chromosome map shows the sequence of genes on a chromosome can be created by using crossover data. The very first chromosome maps were published in 1913 using data from thousands of fruit fly crosses. Chromosome map percentages are not actual chromosome distances, b they represent relative positions of the genes. Figure 15 shows the first chromosome map created using fruit fly data. Notice that the higher th~ crossover frequency, the farther apart the two genes are. Lab~ Map Ch osomes Inquiry Mini Where are genes located on a chromosome? The distance between two genes on a chromosome related to the crossover frequency between them. By comparing data for several gene pairs, a gene s relative location can be determined. procedure 1. Read and complete the lab safety form. 2. obtain a table of the gene-pair crossover frequencies from your teacher. 3. Draw a line on a piece of paper and make marks every 1 cm. Each mark will represent a crossover frequency of 1 percent. 4. Label one mark near the middle of the line A. Find the crossover frequency between Genes A and on the table, and use this data to label B the correct distance from A. 5. Use the crossover frequency between genes A and C and genes B and C to infer the position of gene 6. Repeat steps 4 S for each gene, marking their positions on the line. Analysis 1. Evaluate whether it is possible to know the location of a gene on a chromosome if only one other gene is used. 2. Consider why using more crossover frequencies would result in a more accurate chromosome map 284 Chapter 1 Sexual Reproduction and Genetics
9 1 strawberries (8n) in a cross, the exchange of genes is directly related to the cross over frequency between them. This frequency correlates with the relative distance between the two genes. One map unit between two genes is equivalent to 1 percent of the crossing over occurring between th Genes that are farther apart would have a greater frequency crossing over. Coffee (4,,) P ~P 1 y such Figure as strawberries 16 Various and commercial coffee, are polyploids. plants, Most species have diploid cells, but some have polyploid cells. Polyploidy is the occurrence of one or more extra sets of all chromosomes in an organism. A triploid organism, for instance, would be designated 3n, which means that it has three complete sets of chromosomes. Polyploidy rarely occurs in animals. In humans, polyploidy is always lethal. Roughly one in three species of known flowering plants are polyploid. l olyploid plants are selected by plant growers for their desirable charac teristics. Commercially grown bread wheat (6n), oats (6n), and sugar cane (8n) are polyploid crop plants. Polyploid plants, such as the ones shown in Fi re 16, often have increased vigor and size. ection 3 Assessme t Section Summary Understand Main Ideas I Genetic recombination involves both 1. Analyze how crossing over is related to variation. crossing over and independent assortment. 2. Draw Suppose genes C and Dare linked on one chromosome and genes I Early chromosome maps were created c and dare linked on another chromosome. Assuming that crossing over based on the linkage of genes on the does not take place, sketch the daughter cells resulting from meiosis, show chromosome. ing the chromosomes and position of the genes. I Polyploid organisms have one or more extra 3. Describe how polyploidy is used in the field of agriculture. sets of all chromosomes. Think Critically 4. Construct a chromosome map for genes A, B, C and using the following crossing over data: A to =25 percent A to 8=3 percent Cto D=1 5 per cent B to =5 percent; B to C=2 percent. 5. Evaluate what advantage polyploidy would give to a plant breeder. Biology 6. Write a short story describing a society with no genetic variation in humans. Assessment Online Quiz Section 3 Gene Linkage and Polyploidy 285
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