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Reebop Ratios. Part 1: Introduction Part 2: Mendelian Genetics and Beyond. Part 1: Introduction. Remember your baby Reebops?. Let’s think about the tail trait. What were the possible phenotypes? curly tail straight tail What were the possible genotypes? TT = curly tail Tt = curly tail
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Remember your baby Reebops? • Let’s think about the tail trait. • What were the possible phenotypes? curly tail straight tail • What were the possible genotypes? TT = curly tail Tt = curly tail tt = straight tail
Important Words • Homozygous:Having two alleles (forms of a gene) that are identical (TT or tt). • Heterozygous:Having two alleles (forms of the gene) that are different (Tt). • Dominant:The dominant allele is expressed when homozygous (TT) and when heterozygous (Tt). • Recessive:The recessive allele is only expressed when homozygous (tt).
Which of the genotypes below are heterozygous? Homozygous? Tt TT tt • Based on these genotypes and phenotypes, which allele is dominant, T or t? How do you know? TT = curly tail Tt = curly tail tt = straight tail
Quick-Think Time • If your original Reebop parents had 100 offspring, how many of them would you expect to havea curly tail? • How many of them would you expect to have a straight tail? • Why do you think so? • Why would someone want to predict the numbers of offspring to have a particular trait?
Punnett’s Square • We can find out the expected number of curly-tailed and straight-tailed babies with a tool called Punnett’s Square. • We will call it Punnett’s “Fertilization Probability”Square.
Who was Punnettand what is his square? • REGINALD CRUNDALL PUNNETT (1875-1967)was among the first English geneticists. He created the “Punnett Square” to work out what the possible offspring of two parents will be.
Curly-tailed Dad possible gametes T t T t T TT Tt possible gametes Tt tt t T t Curly-tailed Mom
Quick-Think Time T T T t T t TT Tt T Tt tt t t t How many out of 100?
Expected Genotype 25% T T T t T t 50% TT Tt T Tt tt t t t 25%
Expected Phenotype T T T t T t 50% + 25% = 75% curly-tailed TT Tt T Tt tt t t t 25% straight-tailed
From Percentages to Ratios 25% TT to 50% Tt to 25% tt = Genotypic ratio of 1 to 2 to 1, or 1:2:1 75% curly-tailed to 25% straight-tailed = Phenotypic ratio of 3 to 1 or 3:1
How can we test this prediction? Expected genotypic ratio: 1:2:1 Expected phenotypic ratio: 3:1
STOP to complete Reebop Ratios activity
You and Gregor Mendel… • In the first Reebop activity, you looked at the variety of offspring produced by two parents. • You looked at 7 traits, the gene for each residing on a different chromosome. • You learned about how meiosis and fertilization contribute to variation in organisms.
…You and Gregor Mendel • In the second Reebop activity, you looked at the expected and experimental ratios of offspring with curly and straight tails. • You, and a nineteenth-century monk named Gregor Mendel have a lot in common. • Let’s find out why.
Mendel & the Garden Pea • Gregor Mendel, Austrian Monk • In 1866, Mendel performed breeding experiments with garden pea plants and observed consistent, predictable patterns of inheritance. • From his observations, Mendel developed a number of principles, today referred to as Mendel's Laws of Inheritance.
Before Mendel… • In the 19th century, when both Gregor Mendel and Charles Darwin were alive, “blending inheritance” was a popular idea. • According to blending inheritance, traits from parents “blended” in offspring producing intermediate traits. • Example: The offspring of one short parent and one tall parent would be of medium height. This offspring would pass the new “medium sized” trait to its own offspring.
Quick-Think Time • Imagine that blending inheritance occurs in Reebops. • What type of tail would the offspring of curly-tailed and straight-tailed parents have? • What would happen to variation in this population over time?
Darwin and Mendel… 1809–1882 1822–1884
Darwin and Mendel… • Darwin observed that variation, in the form of individual differences, exists in every species, and is not reduced from one generation to the next. • He proposed that natural selection acts on this variation. • Darwin knew that in order for his idea to be valid, a mechanism for preserving and inheriting variation had to exist.
Darwin and Mendel… THE BIG IDEA: • Mendel’s work answered Darwin’s difficult question. • Mendel showed that traits from parents do not blend. The traits remain distinct and can be passed on to later generations. Genetic variation is preserved. • Mendel also proposed a mechanism for how this variation is inherited and preserved.
Mendel summarized his findings in three theories… • Mendel’s first law, or the principle of segregation: • During the formation of eggs and sperm, “paired factors” (now known as alleles, which reside on chromosomes) segregate, or separate.
Quick-Think Time • Explain how Mendel’s Principle of Segregation was demonstrated in the Reebop activities.
Mendel summarized his findings in three theories… • Mendel’s second law, or the principle of independent assortment: • Each pair of “factors” (now known as alleles) separate and recombine into gametes independently of each other.
Quick-Think Time • Explain how Mendel’s Principle of Independent Assortment was demonstrated in the Reebop activities.
Mendel summarized his findings in three theories. • Mendel’s third law, or the law of dominance: • Each characteristic is determined by the interaction of two hereditary factors (now called alleles), one from each parent. Mendel found that one allele was always dominant over the other.
Quick-Think Time • Explain how Mendel’s Law of Dominance was demonstrated in the Reebop activities.
Mendel & Probability • coin (heads/tails) • probability of heads or tails = ½ • probability of getting heads 3 times in a row • multiplication rule: • (½ x ½ x ½ = 1/8)
Extensions of Mendelian Genetics • Many researchers have encountered exceptions to Mendelian Principles – was he wrong? • Majority of heritable characters not as simple as peas • Phenotypes affected by: many genes, sequential, jointly, environment, etc.
Extensions of Mendel… • Incomplete Dominance – appearance between dominant and recessive F2generation 1 : 2 : 1 CRCR:CRCW:CWCW F1 Generation All CRCW Eggs CR CRCR Sperm Cw 1:2:1 phenotypic ratio 1:2:1 genotypic ratio CWCW
Another example of Incomplete Dominance Chestnut, CC Palomino, CCcr Cremello, CcrCcr
Extensions of Mendel… • Codominance – both alleles affect phenotype in separate ways • Only observed at the cellular or molecular level • e.g., M N bloodgroups (RBC surface marker) • MM • NN • MN (both equally expressed)
Extensions of Mendel… • Multiple alleles of a single gene– ABO blood groups • A, B, AB, O • Combinations of 3 different alleles • IA, IB, I • A and B dominant to O, but not to each other • A and B are codominant
Extensions of Mendel… • Multiple alleles of a single gene– ABO blood groups • I – enzyme that adds sugar molecules to lipids on surface of RBC recognized by our immune system • IB –adds galactose (IBIB or IBi) “B” • IA – adds galactosamine (IAIA or IAi) “A” • i– does not add a sugar (ii) “O” • IA IB adds both sugars “AB”
Multiple Alleles—ABO Blood Groups Possible alleles from female Possible alleles from male Blood Types A AB B O
Extensions of Mendel… • Epistasis – one gene influences a second gene (gene interaction) For example in dogs: • B gene: determines whether pigment (melanin) is brown or black. • E gene:enables or prevents melanin from being deposited in the coat.
Epistatic Ineractions on Coat Color ee E_ No dark pigment in fur Dark pigment in fur Yellow Lab E_bb E_B_ eebb eeB_ Chocolate LabBlack Lab Yellow fur, Yellow fur, Brown fur, Black fur, brown nose, black nose, nose, lips, nose, lips, lips, eye rims lips, eye rims eye rims eye rims
Pedigree Analysis • Display of family relationships to help keep track of relationships and traits • phenotypes • genotypes • e.g., X-linked clotting disorder XX (normal) XY (normal) XXh (carrier) XhY (hemophilia) XhXh (hemophilia)
XhY XXh XXh Hemophilia in European Royalty
Genetic Testing • fetal testing • amniocentesis – needle inserted in uterus to remove ~10 mL of fluid from amniotic sac (14-16th week) • chromosomal analysis • chorionic villus sampling (CVS) • tube inserted through cervix into uterus removing sample of fetal tissue from placenta