Chapter 14 Mendel and the Gene Idea Gregor Mendel Augustinian Monk 1857 he began breeding pea plants to study inheritance Pea plants had many distinguishable characteristics Character = a heritable feature that varies among individuals Traits = variant for a character He could control which pea plant were crossed Mendel only tracked characters that had two traits Began with two true bred plants of different varieties (white and purple flowers) P-generation (parental generation) True Bred plants have offspring that are all of the same variety (purple) Cross-pollinated these two varieties together Hybridization First hybrid offspring F1 generation (first filial generation) F1 generation plants are self-pollinated Second hybrid offspring F2 generation The Law of Segregation All F1 generation offspring had the same trait as one of the plants the P-generation (purple) In the F2 generation the trait of the other parent reappeared (purple and white) This led to the Dominant and Recessive Allele Idea Allele = alternative versions of a gene Dominant allele (trait that will always appear if present) purple Recessive trait (only appear if the Dominant allele is not present white In the F1 only the dominant allele affects the visible characteristics of the plant In F2 some plants have two recessive alleles present so that trait will show 3:1 ratio of Dominant to Recessive characteristics Mendel’s Model 1. Alternative versions of genes account for variations in inherited characters 2. For each character an organism inherits two alleles, one from each parent 3. If the two alleles at a locus differ, then one, the dominant allele, determines the organism’s appearance; the other, the recessive allele, has no noticeable effect on the organism’s appearance 4. Law of Segregation – the two alleles for a heritable character separate (segregate) during gamete formation an end up in different gametes Helpful Vocabulary Homozygous – an organism that has two of the same allele (P-generation) Heterozygous – an organism that has two different alleles (F1 generation) Phenotype – the expression of genes; the visible traits Genotype – the genetic makeup of an organism; which alleles are present: expressed in upper (dominant) and lower case (recessive) letters The Testcross Crossing a known-genotype plant (usually homozygous recessive) with an unknown-genotype plant to determine its genotype The Law of Independent Assortment Monohybrid – heterozygous for one character (color) Cross between heterozygotes for one character is a monohybrid cross Dihybrids – heterozygote for two characters (color and shape) Cross between dihybrids is a dihybrid cross The alleles for sort themselves into gametes during meiosis The alleles are not sorted together but sort independently of each other This means that gametes can have any combination of alleles Law of Independent Assortment Each pair of alleles segregates independently of other pairs of alleles during gamete formation Punnett Squares and Genotypic/Phenotypic Probability Punnett square – diagrammatic device used to predict the allelic composition of offspring Example - Heterozygous cross – genotypic ratio 1:2:1 All dominant: Heterozygous: all recessive – Phenotypic ratio 3:1 Dominant: Recessive Multiplication Rule (Monohybrid crosses) The chance of two independent events occurring together – multiply the probabilities together (Example; coin toss – ½ heads and ½ tails ½ x ½ = ¼ for all combinations) Inheritance patterns Spectrum of Dominance (example of: homozygous red flowers and homozygous white flowers) Complete Dominance – one allele is dominant over another = red flowers (like Mendel’s flowers) Co dominance – both alleles affect the phenotype = spotted red and white flowers Incomplete Dominance – the phenotypes are mixed = pink flowers coin toss Co Dominance Multiple Alleles Example; blood type A, B, AB, O All IA alleles or IA and i= type A All IB alleles or IB and i = type B IA and IB = type AB All i = type O Incomplete Dominance Epistasis Pleiotrophy Each allele has many different affects on phenotype Epistasis One gene affects the expression of another gene (bald and curly hair - can’t have curly hair if you’re bald!) A continuum of possible phenotypes (quantitative characters) (skin color) Polygenic Inheritance Nature vs. Nurture Humans – nutrition influences height, exercise affects build Plants – soil acidity affects expression, flower color – blue-violet to red-violet color Pedigrees Help us to predict the future for traits Answer whether or not the trait is dominant, recessive, or sex-linked Recessive Sex-linked Recessively Inherited Disorders Homozygous Dominant – Normal Heterozygous –Carrier (could pass trait to offspring; does not show the trait) Homozygous Recessive – Has Trait Cystic Fibrosis Sickle-Cell Disease Dominantly Inherited Disorders Homozygous Dominant – Has Trait Heterozygous – has Trait Homozygous Recessive – Normal Acohondroplasia (dwarfism) Huntington’s disease