Mendel and the Gene Idea Chapter 14 Mendel and the Gene Idea

Overview: Drawing from the Deck of Genes What genetic principles account for the passing of traits from parents to offspring? The “blending” hypothesis is the idea that genetic material from the two parents blends together (like blue and yellow paint blend to make green) The “particulate” hypothesis is the idea that parents pass on discrete heritable units (genes) Mendel documented a particulate mechanism through his experiments with garden peas Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Concept 14.1: Mendel Pea Experiments Mendel discovered the basic principles of heredity by breeding garden peas in carefully planned experiments. Advantages of pea plants for genetic study: There are many varieties with distinct heritable features, or characters (such as flower color); character variants (such as purple or white flowers) are called traits Mating of plants can be controlled Each pea plant has sperm-producing organs (stamens) and egg-producing organs (carpels) Cross-pollination (fertilization between different plants) can be achieved by dusting one plant with pollen from another Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Figure 14.1 A genetic cross For his experiments, Mendel chose to CROSS POLLINATE (mate different plants to each other) plants that were TRUE BREEDING (meaning if the plants were allowed to self-pollinate, all their offspring would be of the same variety). P generation – parentals; true-breeding parents that were cross-pollinated F1 generation – (first filial) - hybrid offspring of parentals that were allowed to self-pollinate F2 generation – (second filial) - offspring of F1’s

Key Terminology Mendel chose to track only those characters that varied in an either-or manner He also used varieties that were true-breeding (plants that produce offspring of the same variety when they self-pollinate) In a typical experiment, Mendel mated two contrasting, true-breeding varieties, a process called hybridization The true-breeding parents are the P generation The hybrid offspring of the P generation are called the F1 generation When F1 individuals self-pollinate, the F2 generation is produced Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

The Law of Segregation When Mendel crossed contrasting, true-breeding white and purple flowered pea plants, all of the F1 hybrids were purple When Mendel crossed the F1 hybrids, many of the F2 plants had purple flowers, but some had white Mendel discovered a ratio of about three to one, purple to white flowers, in the F2 generation So where did the trait for the white flower go? Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

What Mendel called a “heritable factor” is what we now call a gene Mendel’s Reasoning Mendel reasoned that only the purple flower factor was affecting flower color in the F1 hybrids Mendel called the purple flower color a dominant trait and the white flower color a recessive trait Mendel observed the same pattern of inheritance in six other pea plant characters, each represented by two traits What Mendel called a “heritable factor” is what we now call a gene Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Table 14-1

Mendel’s Model – 4 Big Ideas Alternative versions (different alleles) of genes account for variations in inherited characters. For each character, an organism inherits two alleles, one from each parent. If the two alleles differ, the dominant allele is expressed in the organism’s appearance, and the other, a recessive allele is masked. (Law of Dominance) Allele pairs separate during gamete formation. This separation corresponds to the distribution of homologous chromosomes to different games in meiosis. (Law of Segregation) Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-4 Figure 14.4 The gene for a particular inherited character, such as color, resides at a specific locus (position) on a certain chromosome. Alleles are variants of that gene. In the case of peas, the flower-color gene exists in two versions: the allele for purple flowers and the allele for white flowers. This homologous pair of chromosomes represents an F1 hybrid, which inherited the allele for purple color from one parent and the allele for white flowers from the other parent.

MENDEL’S LAW OF SEGREGATION – TEXT PAGE 287: Two alleles for each character separate during gamete formation. If the parent has two of the same alleles, then the offspring will all get that version of the gene. But, if the parent has two different alleles for a gene, each offspringhas a 50% chance of getting one of the two alleles.

Figure 14.4 Mendel’s law of segregation (Layer 2) The LAW OF SEGREGATION states that during the formation of gametes, the two traits carried by each parent separate. Parent cell with full gene and Tt alleles. Traits have separated during gamete formation from meiosis.

Mendel’s Law of Independent Assortment States that each allele pairs of different genes segregates independently during gamete formation; applies when genes for two characteristics are located on different pairs of homologous chromosomes this means that, for example, a person having BROWN hair does NOT influence the likelihood of them getting BROWN eyes. USEFUL ANIMATION: http://www.sumanasinc.com/webcontent/animations/content/independentassortment.html Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Mendel’s Law of Independent Assortment TEXT PAGE 287: Each pair of alleles from a homologous chromosome separate independently during gamete formation. The chance of being “G” does not influence the chance of being “Y” if these genes are located on separate chromosomes! Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Punnett Squares The possible combinations of sperm and egg can be shown using a Punnett square, a diagram for predicting the results of a genetic cross between individuals of known genetic makeup A capital letter represents a dominant allele, and a lowercase letter represents a recessive allele Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Useful Genetics Vocabulary An organism with two identical alleles for a character is said to be homozygous for the gene controlling that character Example: TT or tt for tall trait An organism that has two different alleles for a gene is said to be heterozygous for the gene controlling that character Example: Tt for tall trait Unlike homozygotes, heterozygotes are not true-breeding…they are HYBRIDS! Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Phenotype Genotype PP Purple 1 (homozygous) 3 Purple Pp (heterozygous) Fig. 14-6 Phenotype Genotype PP Purple 1 (homozygous) 3 Purple Pp (heterozygous) Because of the different effects of dominant and recessive alleles, an organism’s traits do not always reveal its genetic composition Therefore, we distinguish between an organism’s phenotype, or physical appearance, and its genotype, or genetic makeup In the example of flower color in pea plants, PP and Pp plants have the same phenotype (purple) but different genotypes 2 Purple Pp (heterozygous) pp 1 White 1 (homozygous) Ratio 3:1 Ratio 1:2:1

The Testcross How can we tell the genotype of an individual with the dominant phenotype? Such an individual must have one dominant allele, but the individual could be either homozygous dominant or heterozygous The answer is to carry out a testcross: breeding the mystery individual with a homozygous recessive individual If any offspring display the recessive phenotype, the mystery parent must be heterozygous Why can’t we use homozygous dominant individuals for test crosses? Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

TECHNIQUE RESULTS Dominant phenotype, unknown genotype: PP or Pp? Fig. 14-7 TECHNIQUE  Dominant phenotype, unknown genotype: PP or Pp? Recessive phenotype, known genotype: pp Predictions If PP If Pp or Sperm Sperm Figure 14.7 The testcross p p p p P P Pp Pp Pp Pp Eggs Eggs P p Pp Pp pp pp RESULTS or All offspring purple 1/2 offspring purple and 1/2 offspring white

Figure 14.15 Pleiotropic effects of the sickle-cell allele in a homozygote Sickle cell is a disease caused by the substitution of a single amino acid in the hemoglobin protein of red blood cells. When oxygen concentration of affected individual is low, the hemoglobin crystallizes into long rods. Heterozygotes for sickle cell have increased resistance to malaria because the rod shape of blood interrupts the parasites life cycle. So, sickle cell is prevalent among African Americans.

Probabilities Practice What is the probability that the genotype Aa will be produced by the parents Aa x Aa? ½ What is the probability that the genotype ccdd will be produced by the parents CcDd x CcDd? 1/16 What is the probability that the genotype Rr will be produced by the parents Rr x rr? What is the probability that the genotypes TTSs will be produced by the parents TTSs x TtSS? 1/4

Genetics Practice Problems How many unique gametes could be produced through independent assortment by an individual with the genotype AaBbCCDdEE? 8 What is the expected genotype ratio for a dihybrid heterozygous cross? 9:3:3:1 2x2x1x2x1 = 8

You should now be able to: Define the following terms: true breeding, hybridization, monohybrid cross, P generation, F1 generation, F2 generation Distinguish between the following pairs of terms: dominant and recessive; heterozygous and homozygous; genotype and phenotype Use a Punnett square to predict the results of a cross and to state the phenotypic and genotypic ratios of the F2 generation Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings