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Mendel’s Genetics Where did that blonde hair come from? law of segregation and random assortment 23 23 23 46 23 23 23 Intro notes GENETICS and EVOLUTION The purpose of this chapter is to show how genetic traits are passed from one generation to another. This is called HEREDITY If there was no genetic variation through mutation or crossing over of genes there would be no evolution Gregor Mendel The Monastery I. Gregor Mendel- the father of genetics theory (1822-1884) A. Background 1. entered monastery at 21 2. studied math and science at University of Vienna 3. 1857-1865 – investigated inheritance in pea plants B. Peas – A Fortunate Choice (Pisum sagivum) 1. seven distinct characteristics (flower color, flower position, seed color, seed shape, pod shape, pod color, height) 2. easy to grow 3. mature quickly 4. easy to pollinate D. Mendel’s Experiments- monohybrid crosses (one purple & one white parent) 1. P1 Generation (Parental) a. crossed plants pure for a trait – TRUE- BREEDING 2. F1 Generation (Offsprng of P1) a. all plants show one form of the trait 3. F2 Generation (Offsprng of F1) a. show forms of trait in 3:1 Mendel’s P, F1and F2 Generations Examples of P1 Cross Tall X Short (both are pure) TT X tt All offspring are tall (T t) F1 Generation F1 Generation (all are hybrids) Purple Flower X White Flower (both pure) P P X p p All offpsring are purple (Pp) F1 Generation F1 Generation (all are hybrids) Mendel’s F1 Cross (hybrid x hybrid) Tall X Tall (hybrid cross) Tt X Tt 3 tall plants : 1 short plant (F2 Generation) Ratio of 3:1 Purple Flowers X Purple Flowers (hybrid) P p X P p 3 purple flower plants : 1 white flower (F2) Ratio of 3:1 II. Vocabulary A. Dominant (represented by upper case letter) 1. allele that masks the recessive allele for the same characteristic B. Recessive (represented by lower case letter) 1. allele that is masked by the dominant allele for the same characteristic II. Vocabulary C. Genotype 1. genetic makeup 2. examples a. TT, Tt, tt, b. PP, Pp, pp D. Phenotype 1. external appearance 2. examples a. tall, short E. Homozygous (pure) 1. two alleles code for the same trait 2. examples a. TT, tt, PP, pp F. Heterozygous (hybrid) 1. two alleles do not code for the same trait 2. examples a. Tt and Pp III. Complete Dominance (Monohybrid Cross) A. Both parents are pure 1. homozygous x homozygous 2. example T T x t t B. Both parents are hybrid 1. heterozygous X heterozygous 2. example Tt x Tt III. Complete Dominance C. Pure parent X hybrid parent 1.homozygous dominant X heterozygous a. Example T T x T t 2.homozygous recessive x heterozygous a. Example tt x Tt PUNNETT SQUARES MENDEL”S THEORY 1. Each individual has two copies of an individual trait -these traits controlled by a pair of factors a. today factors are called alleles 2. There are alternate versions traits TT = tall tall Tt= tall short tt= short short MENDEL”S THEORY 3. One trait may be expressed and other may not have an effect. dominant and recessive Analysis of Mendel’s Results 1. Principle of Dominance a. one factor (gene) can prevent expression of another (dominance) IE: hybrid tall plant – phenotype- tall genotype- Tt 2. Law of Segregation a. a pair of factors separate when gametes form 3. Law of Independent Assortment a. factors (genes) for different characteristics separate independently Animation: The Inheritance of Single Traits WORK ON Inheritance lab Where did that blonde hair come from? law of segregation and random assortment 23 23 23 46 23 23 23 incomplete /co dominance/ sex linked www.youtube.com/watch?v=fQvER3MyI2c Incomplete Dominance/ blended traits The phenotype of an individual is the intermediate trait between the two parents: Or-When two heterozygous genotypes make a third, different phenotype. EXAMPLES: Straight haired mother and curly haired fatherthe child will have an intermediate trait such as wavy hair Red snapdragon when crossed with white snapdragons produce pink snapdragons. 10.5 Do the Mendelian Rules of Inheritance Apply to All Traits? In incomplete dominance, the phenotype of the heterozygotes is intermediate between the phenotypes of the homozygotes In the genes studied by Mendel, one allele was dominant over the other, which was recessive Some alleles, however, are incompletely dominant over others When the heterozygous phenotype is intermediate between the two homozygous phenotypes, the pattern of inheritance is called incomplete dominance 10.5 Do the Mendelian Rules of Inheritance Apply to All In incomplete dominance, the phenotype of Traits? the heterozygotes is intermediate between the phenotypes of the homozygotes (continued) Human hair texture is influenced by a gene with two incompletely dominant alleles, H1 and H2 • A person with two copies of the H1 allele has curly hair • Someone with two copies of the H2 allele has straight hair • Heterozygotes (with the H1H2 genotype) have wavy hair 10.5 Do the Mendelian Rules of Inheritance Apply to All Traits? In incomplete dominance, the phenotype of the heterozygotes is intermediate between the phenotypes of the homozygotes (continued) If two wavy-haired people marry, their children could have any of the three hair types: curly (H1H1), wavy (H1H2), or straight (H2H2) 10.5 Do the Mendelian Rules of Inheritance Apply to All Traits? A single gene may have multiple alleles An individual may have at most two different gene alleles A species may have multiple alleles for a given characteristic • However, each individual still carries two alleles for this characteristic IV. Incomplete Dominance (both alleles influence the trait) A. Pure X Pure = all hybrids 1.example (red flower and white flower) a. RR x WW B. Hybrid X Hybrid 1. e (pink x pink flower)a. RW x RW C. Pure X hybrid 1.ex (red x pink or white x pink) a. RR x RW or WW x RW Incomplete Dominance Four O’clock Flowers Pink (RW) White (WW) Red (RR) Codominant traits both are shown- zebra traits are shown – for instance the person with AB blood type is a child with one parents that was A blood type and one parent with B blood type. Neither trait is dominant. Both are in the genotype and phenotype. Both V. Codominance (both alleles are expressed) A. Pure X Pure 1. example (white horse x red horse) a. WW x RR B. Hybrid x Hybrid 1. example (roan horse x roan horse) a. RW x RW C. Pure X Hybrid 1. example(redxroan /white xroan) a. RR x RW or WW x RW VI. Multiple Allele Problems (Blood Types) A. PHENOTYPE Type A B. GENOTYPE AA, AO ( IA IA , IA i ) Type B BB, BO ( IB IB , IB i ) Type AB AB ( IA IB ) Type O OO ( ii ) Table 10-1 Blood Donors and Recipients VII. Sex-linked Inheritance (X linked-carried on X chromosome) A. Examples of sex-linked traits 1. color blindness 2. hemophilia 3. muscular dystrophy 4. Icthyosis Individual Chromosomes Normal Male Male with Disease XY X* Y Normal Female Female Carrier Female - Disease X X X* X X* X* Problem Solving- Sex Linked Diseases A. A man is colorblind and his wife is a carrier for colorblindness. What is the probability that they will have a child who is colorblind? (A son? A daughter?) B. A man and woman are both colorblind. Can they have a child who is not colorblind? (A son? A daughter?) Website –sex linked traits www.edc./weblabs http://www.biology.arizona.edu/mendelian _genetics/problem_sets/sex_linked_inherit ance/sex_linked_inheritance.html Pedigree-a genetic family tree www.genetics.gsk.com/graphics/autosomal_recessive.gif h tt : Pedigree chart tells us two things 1. WHETHER IT IS AN AUTOSOMAL(22 BODY PAIRS) OR SEX-LINKED (1PAIR OF SEX TRAITS XX OR XY) If male and female is close to equal it is autosomal 2. WHETHER IT IS DOM. OR RECESS. TRAIT- IF THE TRAIT IS PASSED TO NEXT GENERATION – BUT SKIPPED A GENERATION IT IS RECESSIVEIF THE PARENTS WERE NORMAL(WERE CARRIERS) AND HAD A CHILD WITH THE TRAIT IT IS RECESSIVE Autosomal pedigree chart Sex-linked pedigree ROYAL FAMILY PEDIGREE Dihybrid Cross A cross that involves two traits. Example: Predict the results of two pea plants that are heterozygous for seed shape – R-round r-wrinkled Seed color- Y- yellow y- green 10.4 How Are Multiple Traits Inherited? Mendel concluded the origination of single traits inheritance He then pursued more complex questions relative to the inheritance of multiple traits Initial experiments included crossbreeding plants that differed in two traits • Seed color (yellow or green) • Seed shape (smooth or wrinkled) Figure 10-10 Traits of pea plants studied by Gregor Mendel Trait Seed shape Seed color Dominant form Recessive form smooth wrinkled yellow green inflated constricted green yellow purple white at leaf junctions at tips of branches tall (about 6 feet) dwarf (about 8 to 16 inches) Pod shape Pod color Flower color Flower location Plant size 10.4 How Are Multiple Traits Inherited? From the many pea plant phenotypes, he chose seed color (yellow vs. green peas) and seed shape (smooth vs. wrinkled peas) • Yellow color is dominant to green color • Smooth shape is dominant to wrinkled The allele symbols were assigned, as follows: • Y = yellow (dominant), y = green (recessive) • S = smooth (dominant), s = wrinkled (recessive) 10.4 How Are Multiple Traits Inherited? The two-trait cross was between two true-breeding varieties for each characteristic, one dominant for both traits, the other recessive for both traits • P: SSYY (smooth, yellow) ssyy (wrinkled, green) • The SSYY plant produced only SY gametes, and the ssyy plant produced only sy gametes • Therefore, the F1 consisted solely of SsYy individuals, with smooth skins and yellow coloring 10.4 How Are Multiple Traits Inherited? Mendel next allowed the F1 individuals to selffertilize: SsYy SsYy Crossing the F1 plants yielded 315 plants with smooth, yellow seeds; 101 with wrinkled, yellow seeds; 108 with smooth, green seeds; and 32 with wrinkled, green seeds • This is a ratio of approximately 9:3:3:1 Two-trait crosses of other traits produced similar proportions of phenotype combinations Figure 10-11 Predicting genotypes and phenotypes for a cross between parents that are heterozygous for two traits Ss Yy self-fertilize eggs SY Sy sY sy SSYY SSYy SsYY SsYy SSyY SSyy SsyY Ssyy SY sperm Sy seed shape seed color phenotypic ratio (9:3:3:1) sY sSYY sSYy ssYY ssYy sy sSyY sSyy ssyY Punnett square of a two-trait cross ssyy smooth yellow smooth yellow smooth green smooth green wrinkled yellow wrinkled yellow wrinkled green wrinkled green Using probabilities to determine the offspring of a two-trait cross 10.4 How Are Multiple Traits Inherited? Mendel hypothesized that traits are inherited independently Mendel predicted that if the two traits were inherited independently, then for each trait, threequarters of the offspring should show the dominant phenotype and one-quarter should show the recessive phenotype • a 3:1 ratio, as he had found for the single trait flower color 10.4 How Are Multiple Traits Inherited? Mendel hypothesized that traits are inherited independently (continued) He found 423 plants with smooth seeds (of either color) and 133 with wrinkled seeds (a ratio of about 3:1) He found 416 plants produced yellow seeds (of either shape) and 140 produced green seeds (also about 3:1) 10.4 How Are Multiple Traits Inherited? Mendel hypothesized that traits are inherited independently (continued) The independent inheritance of two or more traits is called the law of independent assortment Multiple traits are inherited independently because the alleles of one gene are distributed to gametes independently of the alleles for other genes Independent assortment will occur when the traits being studied are controlled by genes on different pairs of homologous chromosomes 10.4 How Are Multiple Traits Inherited? Mendel hypothesized that traits are inherited independently (continued) The physical basis of independent assortment has to do with the way homologous pairs line up during meiosis Which of the two homologues is “on top” occurs randomly for all pairs, so the homologues assort randomly and independently of one another at anaphase I Animation: The Inheritance of Multiple Traits Figure 10-12 Independent assortment of alleles S s pairs of alleles on homologous chromosomes in diploid cells Y y chromosomes replicate S Y s y replicated homologous pair during metaphase of meiosis I, orienting like this or like this S s y Y meiosis I S Y s y S y s Y S Y s y S y s Y meiosis II S S Y s Y SY S s y y sy s S y y Sy independent assortment produces four equally likely allele combinations during meiosis s Y Y sY 10.4 How Are Multiple Traits Inherited?. In an unprepared world, genius may go unrecognized Mendel’s work was published in 1865 but went unnoticed Three biologists—Carl Correns, Hugo de Vries, and Erich Tschermak—independently (of Mendel and each other) rediscovered Mendel’s principles of inheritance in 1900 Mendel was credited in new papers as laying the groundwork of genetics 30 years previously 10.5 Do the Mendelian Rules of Inheritance Apply to All Each trait is completelyTraits? controlled by a single gene Only two possible alleles of each gene exist One allele is completely dominant to the other, recessive, allele Most traits are influenced in more varied and subtle ways Dihybrid cross Parent- round and yellow RrYy Dihybrid Cross Fill in all the genotypes for the previous slide.