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The Work of Gregor Mendel What is genetics? Why study it? Genetics = study of heredity Heredity = passing on of characteristics from parents to offspring Geneticists study genes, stretches of DNA, that code for proteins What are some features in humans that everyone has in common? What are some features that are different from human to human? Why pea plants? Easy to grow and mature quickly Structure & method of pollination made them easy to use in controlled experiments: could self-fertilize or cross-fertilize Different plants show contrasting traits Characteristic = heritable feature that varies among individuals, ex: flower color Trait = different varieties for a characteristic, ex: purple or white flowers Why did Mendel Choose the Pea? Flower Structure/ allowed controlled mating Many variable traits/ simple traits Fast Generation Time Gregor Mendel Genetics – the scientific study of heredity Gregor Mendel – (born in 1822) worked with true breeding garden peas to study inheritance True breeding – produce offspring identical to themselves when they selfpollinate White 1 Removed stamens from purple flower Flower color Stamens Carpel PARENTS (P) Purple White Axial Terminal Seed color Yellow Green Seed shape Round Wrinkled Pod shape Inflated Constricted Pod color Green Yellow Tall Dwarf Flower position 2 Transferred Purple pollen from stamens of white flower to carpel of purple flower 3 Pollinated carpel matured into pod 4 Planted seeds from pod OFFSPRING (F1) Stem length Genes and Dominance Mendel crossed plants with seven different pea plant traits that each had two contrasting characteristics and studied the offspring. P generation – original pair of plants F1 generation – 1st generation of offspring F2 generation – 2nd generation of offspring Mendel’s Crosses Self-pollination – sperm cells fertilize egg cells of the same plant (i.e. one parent, but still sexual reproduction) True-breeding plants – if allowed to selfpollinate, they would always produce offspring identical to themselves Ex: true-breeding short plants always have offspring that are short when then self-pollinate The F1 Cross Mendel wondered if the recessive alleles had disappeared or if they still existed in the F1 generation. He let the F1 plants self-pollinate creating the F2 generation. Traits controlled by the recessive alleles reappeared in 1/4th of the F2 generation. Mendel made two conclusions: 1. Inheritance is determined by factors passed on from one generation to the next. • • 2. Genes – pieces of DNA that determine a trait Alleles – different forms of genes Some alleles are dominant and others are recessive. (Principle of Dominance) • • Dominant allele – always expressed as a trait when present (represented by a capital letter) Recessive allele – only expressed when the dominant allele is not present (represented by a lower case letter) Current genetic terminology Phenotype is the outward appearance; ex: tall or short height Memory trick: Genotype is the genes Phenotype is the physical feature you see General Terms: Homozygous – having two identical alleles for a trait (ex: TT – homozygous dominant or tt – homozygous recessive) Heterozygous trait (ex: Tt) Hybrid – having two different alleles for a – offspring of crosses with different traits Genotype TT, Tt or tt) – genetic makeup of an individual (ex: Phenotype – physical appearance of an individual Probability – the likelihood that an event will occur (ex: brown, tall) The Albino Trait Genetics and Probability Mendel realized that probability could be used to explain the results of genetic crosses. Punnett Squares: T – tall t – short Possible 25% TT – tall 50% Tt – tall 25% tt – short offspring of a Tt x Tt cross: 75% chance - tall and 25% - short (3:1 ratio) Mendel’s Law of Segregation: As seen in P and F1 generations Dad T = tall (dominant) t = short (recessive) Parental! TT x Mom tt meiosis Gametes? Punnett Square for monohybrid crosses Mendel’s Law of Segregation: As seen in P and F1 generations Dad T = tall (dominant) t = short (recessive) Parent 2 Gametes Parent 1 Gametes T T t Tt tall Tt tall t Tt tall Tt tall Mom TT x Parental! tt meiosis T T t t Gametes Genotype = 100% Tt Phenotype = 100% tall Mendel’s Law of Segregation: As seen in P and F1 generations Dad Mom Tt T = tall (dominant) x Tt t = short (recessive) T t T TT tall Tt tall t Tt tall tt Probabilities? T t T t Offspring = F2 generation genotype = 1 TT: 2 Tt: 1 tt short phenotype = 3 tall : 1 short Practicing with Punnett Squares Parents – Tt and tt T t Parents – TT and Tt T T t Tt tt T TT TT t Tt tt t Tt Tt Offspring: 50% Tt – tall 50% tt – short ratio - (2:2) or (1:1) Offspring: 100% TT or Tt – tall ratio - (4:0) Beyond Dominant & Recessive Some genes are neither dominant nor recessive and many traits are controlled by multiple alleles or multiple genes. Incomplete Dominance – neither allele is completely dominant so the heterozygous phenotype is a blending of traits Ex: four o’clocks - red flower crossed with white flower produces pink flower Codominance Q: What does “cooperate” mean? A: Operate together Codominance = when both alleles are expressed; neither is dominant nor recessive Q: If the two homozygotes are red and white, what’s the phenotype of the heterozygote? A: The heterozygote shows red and white hairs Roan coat in cows and horses Both red and white hairs are present Codominance – both alleles are dominant so both traits show in the heterozygous phenotype Ex: chickens – white chicken crossed with black chicken produces black and white speckled chicken Multiple Alleles – many genes have three or more alleles of the same gene Ex: blood type Polygenic traits – traits that are controlled by two or more genes; show a wide range of phenotypes. Ex: skin color is controlled by at least 4 genes Sex Linked Traits Q: What are the two types of chromosomes? A: Sex chromosomes and autosomes Q: How many sex chromosomes are there? What are they? What do the different combinations mean? A: Two sex chromosomes – X & Y XX = female XY = male Color-blindness test! Color-blindness test!