Mendelelian Genetics 1 Genetics notes Gregor Mendel (1822-1884) An Austrian Monk He determined the Laws governing Inheritance of Traits Gregor Mendel Between 1856 and 1863, Mendel tested 28,000 pea plants He was devoted to finding out how inheritance worked He is called the “Father of Genetics" Site of Gregor Mendel’s experimental garden as it looks today Genetic Terminology Trait - any characteristic that can be passed from parent to offspring For example, the brown hair you inherit from your dad is a trait Heredity/Inheritance - passing of traits from parent to offspring Genetics - study of heredity Particulate Inheritance Mendel stated that physical traits are inherited as “particles” Mendel did not know that the “particles” were actually gene sections of DNA on Chromosomes What and where are “Genes”? Genes are sections of DNA on each chromosome / chromatid strand that instruct the body to create a particular trait There are active genes, inactive genes (Junk DNA) and switch genes In people, we have at least 25,000 active genes, hundreds of thousands of switch genes, and almost 1 million inactive sections, located on 23 different chromosome pairs Chromosome 6 Gene for hair color Gene that switches on fingernail growth Gene for gills (inactive) Gene for growth of fingernails Gene for dimples Chromosomes/chromatid and their Genes come in pairs All DNA chromosomes or chromatid strands in eukaryote cells exist in pairs (except for sex cells). Chromosome 6 One chromosome is from a female parent One chromosome is from the male parent That means all genes on them also exist in pairs (2 of every gene) Mom Dad Genes come in pairs Genes for a given trait always occur in the same place on the same chromosome Notice that some genes are identical, but some genes are different (different nucleotide sequences) You can inherit a gene for blond hair from mom, but a gene for brown hair from dad Mom Dad Gene for hair color Alleles and Homologous Genes Allele – another word for “gene”. It is used when discussing heredity Homozygous Alleles – are genes that are identical from each parent Heterozygous Alleles – are genes that are different from each parent Mom Dad Alleles and Homologous Genes For example, this might be the homozygous alleles for the presence of five fingers on each hand Both of your gene copies are identical (fortunately)! Mom Dad Alleles and Heterozygous Genes Mom These might be the heterozygous alleles for color of your skin Both of your gene copies are different! Dad Dominant and Recessive Alleles Some gene alleles have a stronger effect in the body than others. A gene that has a stronger effect on a trait than its mate is called a Dominant Gene or Allele The “hidden” or less expressive gene is called the Recessive Allele Mom Baldness is Recessive Dad Full head of hair is dominant Dominant and Recessive Alleles The presence of even one dominant gene will result in you expressing that trait The recessive gene is not expressed For example, if you inherit one dominant gene for an allergy to peanuts from mom, you will be allergic to peanuts, even if the other gene (from dad) is not allergic to peanuts Mom Dad Peanut allergy gene Dominant and Recessive Alleles When doing gene calculations, Dominant alleles are indicated by a capital letter (“H)” Recessive alleles are represented by a small letter (‘’h”) The letter you pick is up to you h c gene for H gene for C blonde hair brown hair Dominant and Recessive Alleles For example, brown hair is a Dominant trait Blond hair is a recessive trait Dominant and Recessive Alleles Hair color can also be reddish or auburn. Red hair is a Recessive trait of another gene (the red-or non-red allele). To get red hair, you must have two recessive “rr” alleles for red, and 2 recessive blonde genes. Whether you inherit pure red hair or auburn color (brownish red) depends on the brown or blond gene. To get auburn hair, you would have a dominant brown gene (BB or Bb) and two recessive red genes (rr) Mom B b r Dad b r Blond hair gene Auburn hair gene Dominant and Recessive Alleles Purple color in pea flowers is a Dominant trait White color in Pea flowers is a Recessive trait Dominant and Recessive Alleles Freckles is a Dominant trait If you inherit two FF alleles, or an Ff allele, you will get freckles No freckles is a recessive trait (you must inherit two f genes) Mom F Dad f Freckles gene Co-Dominant Alleles Not all genes come in dominant and recessive varieties. Some gene alleles are both equally expressed. They are called “Co-dominant” Alleles The alleles for blood type are co-dominant genes Incomplete Dominant alleles Some genes contribute ½ of a trait. No allele is dominant. The trait is a blend of both genes Example: In snapdragons (flower) – A red flower gene + white gene = pink flower + = Example: hair curl in humans. Mate a curly haired girl with a straight haired man = a wavy haired child Multiple Alleles Many traits are controlled by several genes at once. The multiple genes or switches that control a trait are called the trait’s “Multiple Alleles” These genes/switches can be on different chromosomes Adult height in people is controlled by nine different genes or switches (multiple alleles) Let’s Practice: These two spinning genes are Homozygous Alleles, because they are both identical. These two spinning genes are Heterozygous Alleles, because they are different from each other. Let’s Practice: Genes that have a greater effect on a trait are called Dominant gene alleles. Genes that seem to be hidden or overpowered by the presence of a dominant allele, are called Recessive gene alleles. H gene for brown hair is Dominant Let’s Practice: Genes that contribute ½ of each trait are called Incomplete Dominant gene alleles. Let’s Practice: – no notes The alleles for Brown bb, rr, Ff or blond hair color are Bb, rr, ff BB, Bb, bb. Brown is bb, RR, FF dominant over blond The alleles for Red hair or no red hair are RR, Rr, or rr. Red hair is recessive. The alleles for freckles are FF, Ff, or ff. Freckles are dominant. bb, Rr, FF Bb, rr, ff bb, RR, ff Genotypes Genotype – the letters representing the genes that control a particular trait (e.g. RR, Rr, rr) Homozygous genotype - gene combination involving 2 dominant or 2 recessive genes (e.g. RR or rr); also called pure Heterozygous genotype - gene combination of one dominant & one recessive allele (e.g. Rr); also called hybrid For example, the genotype for the speed of hair growth may be the Homozygous Dominant alleles G G Isn’t Genetics You! great? G h G h The genotype for brown eyes may be Heterozygous Dominant alleles B b B b The genotype for dry skin may be Co-dominant alleles Ds Ds Ds Ds The genotype for a pug nose may be the incomplete dominant alleles Pn Pn Pn Pn The genotype for blonde hair may be Homozygous Recessive alleles h h Phenotype – the physical traits My phenotype that result when the genotype My phenotype isis silky of each gene is expressed blondhair hair For example, having homozygous dominant hair growth alleles G G on chromosome 14 can produce people with a phenotype of silky hair Having recessive alleles h h for blonde hair on chromosome 11 will produce people with blonde hair Having a hybrid B b genotype for brown eyes will result in a child with a brown eyes phenotype If you are born with the genotype Ds Ds for dry skin, your phenotype of that trait will be dry skin You! G h G h B b Ds Ds Let’s Practice: The Genotype of this trait for hair color are the letters _h H_ The Phenotype of this trait for hair color, is ____brown hair ___ h H Let’s Practice: The Genotype of this trait for flower color in pea plants are the letters _R r_ The Phenotype of this trait for flower color would be ____purple flowers ___ Why? The Genotype for flower color in this pea plant are Heterozygous Dominant Alleles R r Mendel’s Pea Plant Experiments Why peas, Pisum sativum? Can be grown in a small area Produce lots of offspring Produce pure plants when allowed to self-pollinate several generations Can be artificially cross-pollinated Reproduction in Flowering Plants Pollen is plant sperm Produced by the Stamen The Ovary produces an Ovule (egg) found inside the flower (ovum is plural) Pollen is carried to the ovule for fertilization through the Pistil Self-fertilization can occur in the same flower Cross-fertilization can occur between flowers Mendel’s Experimental Methods Mendel hand-pollinated flowers using a brush rubbed across the stamen of one plant to pick up pollen, then brushed over the pistil of another plant He snipped the stamens of the target plant to prevent self-pollination He tracked various traits through several generations Eight Pea Plant Traits Flower color --- Purple (P) or white (p) Seed Color ---- Yellow (Y) or Green (y) Seed shape --- Round (R) or Wrinkled (r) Pod Shape --- Smooth (S) or wrinkled (s) Pod Color --- Green (G) or Yellow (g) Seed Coat Color ---Gray (G) or White (g) Flower position---Axial (A) or Terminal (a) Plant Height --- Tall (T) or Short (t) How Mendel Began Mendel produced pure strains by allowing the plants to selfpollinate for several generations Mendel’s Experimental Results Phenotype Phenotype Types of Genetic Crosses Monohybrid cross - cross involving a single trait ( e.g. flower color only) Dihybrid cross - cross involving two or more traits (e.g. flower color & plant height) Why did Mendel get a 3:1 ratio PP PP Assume each of these two purple What plants would is bepure their(both individual flower of their “Genotype” for flower genes for flower colorcolor? are Dominant “Purple” alleles Purple is DOMINANT Why did Mendel get a 3:1 ratio What would be the outcome if these two Because the color Purple in plants mated? Consider this cross pea plant flowers is a Dominant trait, the genes or Genotype for this trait in two homozygous PURE plants PP PP would be written as the capital letters PP x PP Let’s use a “square graph” to predict it! It’s called a “Punnett Square” Why did Mendel get a 3:1 ratio PP PP Step 1 – Write down the four possible arrangements along the top and bottom of the square “Punnett Square” Why did Mendel get a 3:1 ratio Step 2 – List all the possible genotypes within the square P P P P P P P P P P P P “Punnett Square” Why did Mendel get a 3:1 ratio Step 3 – Predict the color of the flowers given their genotype Purple is a dominant color trait, so P x P would produce only Purple flowers (the homozygous Pure Purple phenotype). P P P P P P P P P P P P “Punnett Square” This is a purebred cross between two homozygous purple flowers P generation F1 generation P P “Phenotype” P P P P P The parents are called the Parent or P generation, and the offspring are called the 1st Filial or F1 generation P P P P P “Genotype” Now let’s consider this cross x pp pp White is a recessive color trait, so p x p would produce only White flowers (the Pure White phenotype). What is the Phenotype? Genotype? pp pp pp pp “Punnett Square” Now consider this cross x pp PP Purple is a dominant trait, so its presence in even one allele will produce all purple flowers (the Heterozygous Hybrid Purple phenotype). What What is is the the Genotype? Phenotype? Pp Pp Pp Pp “Punnett Square” Now consider a cross between two F1 hybrid offspring F1 generation Pp Pp Purple is a dominant trait, so its presence in 3 of the four offspring will produce purple flowers. However, one of the flowers will be recessive white (pure white phenotype) What What is is the the Genotype? Phenotype? Pp pp F2 generation PP Pp “Punnett Square” Gregor Mendel realized that this 3:1 ratio in single monohybrid traits can only occur if the factors of Heredity occur in pairs, and are governed by the principle of Dominance F1 generation F2 generation Pw ww Pw Pw “Punnett Square” Mendel’s Law of Segregation During the formation of gametes (eggs or sperm) in Meiosis, the two gene alleles responsible for a trait randomly separate from each other. Alleles for a trait are then "recombined" at fertilization Mendel’s Law of Dominance Some gene alleles are dominant. In a cross of parents that are pure for different phenotypes of the same trait, one trait may dominate the other and only it may appear in the next generation. All the offspring will be heterozygous and express only the dominant phenotype. RR x rr yields all R r (round seeds) Law of Independent Assortment Alleles (genes) for different traits that are located on different chromosomes are distributed randomly to sex cells (& offspring), independently of one another. Let’s try it (1 chip – no notes) F1 generation Pp pp What is the Genotype? pp pp F2 generation What is the Phenotype of the four offspring? Pp Pp “Punnett Square” Let’s try it (1 chip – no notes) F1 generation Bb bb What is the Genotype? bb bb F2 generation What is the Phenotype of the four offspring? Bb Bb “Punnett Square” Your turn – complete the Punnett Square handout Let’s try it with Co-Dominant traits A person can have alleles of A, B or O for blood type AO BO (A and B are dominant over O) What is the Genotype? B Mom Dad Type A AB AB O Type AO A F1 generation What is the Phenotype of the four offspring? O Type BO B Type OO O “Punnett Square” Dihybrid Cross A breeding experiment that tracks the inheritance of two traits. Mendel’s “Law of Independent Assortment” states that each pair of alleles segregates independently during sex cell formation, and will be inherited separately Dihybrid Cross Traits: Eye color and hair curl Alleles: BB brown eyes Eye color is a Bb brown eyes dominant trait bb blue eyes CC = curly hair Hair curl is an Incomplete Cc = wavy hair dominant trait BC cc = straight hair (a blend) FOIL Rule Bc 100% (all) of the kids will have brown First of each pair eyes (Bb) (check it OUT!) BC Outside of each pair 50% of the kids will have wavy hair (Cc) Inside of each pair 50% will have straight hair (cc) Bc Last of each pair bb, cc BB, Cc bc bc bc bc BbCca BbCc BbCc BbCc To construct Di-hybrid cross 16 box BbccPunnett Bbcc listBbcc Bbcc Square, each combination as follows: BbCc BbCc BbCc BbCc Bbcc Bbcc Bbcc Bbcc Dihybrid Cross Traits: Body color and teeth Alleles: BB Yellow body Yellow body is a dominant Bb Yellow body trait bb blue body TT = 2 teeth Teeth is a dominant trait Tt = 2 teeth BT tt = no teeth FOIL Rule Bt the 16 will be recessive in the the dominant in 13 16 will be homozygous 1ofof of the 16kids kids will be homozygous 9the ofFirst the 16 be dominant in ofwill each pair first trait and dominant the first trait and pure for Dominant traits pure forboth bothrecessive recessive traits both traits (either pure orin hybrid). bT Outside of each pair second. They will be blue with second. They will be yellow with (yellow body (BB) and teeth (TT) (blue body (bb) and no teeth (tt) They will be yellow with teeth. teeth. teeth. Insideno of each pair bt Last of each pair Bb, Tt Bb, Tt BT Bt bT bt BBTT BBTt BbTT BbTt BBtT BBtt BbtT Bbtt bBTT bBTt bbTT bbTt bBtT bBtt bbtT bbtt Dihybrid Cross When two heterozygous parents are mated (RrSs and RrSs), the ratio of Phenotypes is: Dominant in both traits (RS) = 9 Dominant in first but not second = 3 Dominant in second but not first = 3 Recessive in both traits 9:3:3:1 = 1 Remember this Dihybrid ratio – it occurs when two hybrids mate Sex-linked Traits Traits (genes) located on the sex chromosomes Sex chromosomes are X and Y XX genotype for females XY genotype for males Many sex-linked traits carried on X or Y chromosome only (only 1 gene is present) Sex-linked Traits Example: Eye color in fruit flies Sex Chromosomes fruit fly eye color XX chromosome - female Xy chromosome - male Sex-linked Trait Problem Example: Eye color in fruit flies (red-eyed male) x (white-eyed female) XRY x XrXr Remember: the Y chromosome in males does not carry that trait (allele) at all. RR = red eyed Rr = red eyed rr = white eyed XY = male XX = female Xr Xr XR XR Xr XR Xr Y Xr Y Xr Y Your turn – complete the Dihybrid Cross handout