1. chose the pea plant for 3 reasons: a. structure of the pea flower (more later) b. presence of distinctive traits c. rapid reproductive cycle 2.
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1 Genetics I. Genetics A. genetics: scientific study of heredity 1. we have known for centuries that traits are passed from parents to offspring 2. we didn t know how the traits were determined B. recall chromosomes and cell division 1. chromosomes are replicated and distributed to daughter cells 2. reproduction requires cell division and chromosome replication 3. we now know that traits are passed from parents to offspring in these chromosomes But the relationship between chromosomes and traits was not always understood II. Gregor Mendel ( ) Father of Genetics A. Facts: 1. Austrian monk 2. Began his work in the 1860 s 3. Used mathematics in his study of the garden pea plant During Mendel s time, most people thought that traits were a result of a blending of the parents traits. Mendel showed something different. I. Mendel s Work A. worked for more than 8 years on his pea plant experiments, using more than 20,000 plants!
2 1. chose the pea plant for 3 reasons: a. structure of the pea flower (more later) b. presence of distinctive traits c. rapid reproductive cycle 2. these characteristics allowed Mendel to isolate and control variables, and to produce observable results that he could duplicate B. Structure of the Pea Flower 1. easy to self-fertilize (pollen from the anther fertilizes the pistil of the same plant) 2. through self-fertilization, able to get purebred plants a. purebred: any organism that receives the same genetic traits from both of its parents example: if you get the gene for attached earlobes from your mom AND from your dad, you are purebred for attached earlobes (both copies of the gene are the same) 3. the pea flower structure was also good for crossfertilization (fertilization using 2 different plants) a. produced hybrids: organisms that receive different forms of a genetic trait from each parent example: if you get the gene for attached earlobes from your dad and the gene for free earlobes from your mom, you are a hybrid for earlobe shape 4. Mendel studied 7 different traits in the garden pea plant, all of which were easy to observe
3 a. each of these traits has only 2 distinct forms (rather unusual) examples: pea pods are either yellow or green pea plant stems are either tall or short never an inbetween like medium height The Experiments I. Mendel began by using 2 different groups of purebred plants examining pea color A. he called this generation (the 2 purebred plants) the parental generation, or P generation the P generation was either purebred yellow or purebred green 1. He crossed these 2 parental plants to produce offspring, called the F 1 generation ( F stands for filial, which means offspring) P purebred green X purebred yellow F 1 **2. The F 1 generation all had yellow peas 3. Next, Mendel allowed the F 1 generation to selffertilize, producing the F 2 generation 4. In the F 2, ¾ of the plants had yellow peas and ¼ of the plants had green peas
4 B. What had Mendel expected to happen? 1. The blending hypothesis would predict greenishyellow (or yellowish-green) peas 2. Instead, the F 1 generation plants all had yellow peas no green peas, even though one of the parents had green peas But when the F 1 self-fertilized, the green peas came back in the F 2 generation! The F 2 generation had 75% plants with yellow peas and 25% of plants had green peas **** Ratio 3 plants w/ yellow peas : 1 plant w/ green peas C. Mendel repeated the experiment for the other 6 traits 1. for each trait, he observed the same results in the F 1 generation: all of the F 1 plants showed only one form of the trait ex. P purebred tall X purebred short F 1 all tall plants P F 1 purebred purple flowered X purebred white flowered all purple flowered plants
5 2. Mendel defined each form of the trait as either dominant or recessive. The dominant form appeared in the F 1 generation, the recessive form did not appear in the F 1 3. In the F 2 generation of his experiments, Mendel always got 2 types of plants 75% were the dominant form, 25% showed the recessive form *see diagram of Mendel s experiments through the F2 II. Mendel s Conclusions A. Mendel s experiments proved that the blending hypothesis was wrong 1. never observed pea plants with mixtures of the 2 forms of the trait 2. Mendel reasoned that forms of a trait must remain separate in offspring B. Mendel hypothesized that each trait is controlled by a distinct factor 1. since there were 2 forms of each trait, Mendel realized that there must be at least 2 forms of each factor 2. He reasoned that for every trait, a pea plant must carry a PAIR of factors which could affect each other; When a trait is inherited, the offspring receives one factor from each parent. C. We now know that Mendel s factors are genes 1. recall: most organisms have 2 copies of every gene and chromosome (homologous chromosomes) one copy from each parent
6 2. We refer to the different forms of Mendel s factors as alleles Allele: distinct form of a gene If an organism has 2 different alleles for a trait, only one is expressed or visible Example: A person has an allele for free earlobes and an allele for attached earlobes, yet that person s earlobe shape is just free. (only one of the alleles is expressed) Dominant allele: form of a gene that is fully expressed when 2 different alleles are present Recessive allele: form of a gene that is NOT expressed when paired with a dominant allele Mendel published an account of his experiments in His work was unrecognized for 37 years. Rediscovering Mendel Late 1880 s : a new staining technique allows chromosomes to be viewed for the first time Early 1900 s : Mendel s work is rediscovered I. Walter S. Sutton 1903 A. Sutton was observing stained cells through a microscope and realized that chromosomes behaved like Mendel s factors
7 B. Developed the Chromosomal Theory of Heredity which states that the material of heredity is carried by the genes in chromosomes (remember didn t know that this material of heredity was DNA until the late 1940 s-early 1950 s, and didn t know the structure of DNA until 1953) C. To explain and use the theory, a system of terms and symbols was developed. WE USE LETTERS TO REPRESENT ALLELES. But, how do you know which letters to use? Use the same letter for both forms of the trait because both dominant and recessive alleles are for the same trait. We just use capital and lowercase forms of the letters to show the difference. The dominant allele always determines the letter the first letter of the dominant form of the trait is chosen and the dominant allele always uses an capital letter The recessive allele always gets a lowercase letter. Ex. pea color Yellow is dominant, green is recessive. We use the letter Y because it is the first letter in the dominant form (Yellow). The allele for yellow peas is represented by an capital letter Y The allele for green peas is represented by a lowercase letter y
8 D. Genotype and Phenotype 1. genotype: the genetic make-up of an organism a. includes both genes in a homologous pair of chromosomes examples: a plant purebred for yellow peas: YY a hybrid plant for pea color: _ Yy a plant purebred for green peas: yy 2. phenotype: outward expression or appearance of a trait example: the hybrid with genotype Yy has the phenotype yellow peas (recall dominance) 3. Describing genotypes a. homozygous: the 2 alleles in a gene pair are the same examples: YY and yy Mendel s purebred plants were homozygous for pea color. b. heterozygous: the 2 alleles for a trait are different examples: Gg, Yy, Pp Mendel s hybrid plants were heterozygous for pea color.
9 Mendel s Laws I. Mendel s Laws A. basic rules of inheritance 1. there are exceptions (more on that later) 2. many traits do follow Mendel s laws (called Mendelian traits) B. The Law of Segregation Each pair of genes segregates, or separates, during meiosis. 1. Because of segregation, half of an organism s gametes contain one gene from a homologous pair and half of the gametes contain the other gene. C. The Law of Independent Assortment Gene pairs segregate into gametes randomly and independently of each other. 1. Mendel studied the inheritance of 2 traits at the same time Example: pea color and pea shape P purebred yellow round peas X purebred green wrinkled peas Genotype: YYRR Genotype: yyrr F1 all plants had yellow round peas (self fertilized to get F2) F2 All possible combinations were produced: Yellow round peas Yellow wrinkled peas Green round peas Green wrinkled peas
10 The association of traits in a parent didn t seem to matter. yellow wasn t always with round green wasn t always with wrinkled We could get combinations that were different from the parents. D. Law of Dominance The dominant allele is expressed and the recessive allele can be hidden. 1. a recessive allele is expressed only when an organism has NO COPY of the matching dominant allele Example: plant heterozygous for flower color Recall: purple is dominant over white Allele for purple flowers: P Allele for white flowers: p Genotype: Pp Phenotype: purple flowers
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