Mendelian Genetics

+ + = Genetics and heredity For a long time, general ideas of inheritance were known + + =

+ = What was really lacking was a quantitative understanding of how particular traits were passed down to their offspring.

Gregor Mendel (1822-1884) German monk born in 1822 Lived in what is now the Czech Republic Tended the garden at his monastery, conducted experiments with pea plants Studied peas for 7 years, published results 1866; ignored until 1900 Now considered the “Father of Genetics”

What is a trait? A trait is a characteristic that can vary from one individual to the next (e.g., eye color) Mendel chose 7 pea plant traits to study: seed shape, seed color, flower color, pod shape, pod color, flower position, plant height He was lucky that each trait happened to be located on different chromosomes (people didn’t know about chromosomes back then)

Mendel's experiments First, he created true (pure) breeding pea plants Then he experimented with different traits (one at a time) He cross-pollinated plants with different traits, and observed the offspring (Normally done by bees… Mendel used scissors and a paint brush)

Important vocabulary True (pure) breeding = offspring always have same trait as parent (every time, no matter what!) Self-pollination = plant fertilizes itself Cross-pollination = one plant fertilizes another P generation = Parent generation F1 generation = 1st generation offspring (“filius” is Latin for “son”; offspring of P generation) F2 generation = 2nd generation offspring (offspring of F1 generation)

…what size were the offspring (F1 generation)? Mendel’s crosses When Mendel crossed true-breeding tall plants with true-breeding dwarf plants (P generation)… …what size were the offspring (F1 generation)?

The F1 generation were all tall

Mendel was surprised! Mendel had expected the traits to blend: tall + dwarf = medium Instead, the tallness of parent had masked the shortness of the other parent tall + short = tall????

…what size were the offspring (F2 generation)? Mendel then let the F1 generation self-pollinate to create the F2 generation …what size were the offspring (F2 generation)?

Some of the F2 offspring were tall, and some were dwarf The ratio was always 3 tall to 1 dwarf (3:1)

Mendel's findings When Mendel crossed true-breeding plants with different traits, all of the F1 plants showed only one trait (e.g., all tall); the F2 plants showed a 3:1 ratio He did not get “medium” plants! He called the traits dominant (showed in F1 generation) or recessive (didn’t show up in the F1 generation)

Mendel’s conclusions Mendel realized that: Inheritance of traits is controlled by genes contributed by each parent (e.g., flower color)

Mendel’s conclusions These genes come in different forms, called alleles (e.g., purple or white flowers)

Mendel’s conclusions Some alleles are dominant while others are recessive When both types of alleles are present, dominant alleles mask (cover up) recessive alleles Mendel’s Discoveries & Results

Mendel’s Law of Dominance: Generally, one allele is dominant to another Dominant allele always expressed, even if combined with recessive allele written as uppercase letter of the trait e.g., tall = dominant: TT, tT, or Tt Recessive allele expressed only if dominant allele is not present. written as a lowercase letter of the dominant trait e.g., dwarf = recessive: tt

More vocabulary… Genotype = genetic combination of alleles (e.g., TT, Tt, tt) Phenotype = physical characteristic or trait (e.g., tall, short) Homozygous = both alleles are the same (e.g., TT or tt) → “true breeding” Heterozygous = alleles are different (e.g., Tt) Hybrid = offspring of crosses of parents with different traits (e.g., offspring of TT and tt)

Mendel’s Law of Segregation When gametes form, the alleles from each parent are segregated (separated) from each other Each gamete carries a single allele for each gene

Probability of F2 generation being TT? 1 2 3 4 5 6 8 7 9 10 11 12 13 14 Parents (P) gametes F1 gametes Probability of F2 generation being TT? F2 Circle # Genotype Hetero/Homo-zygous Phenotype Generation Gamete? (y / n) 1 3 7 14 TT homozygous tall no P T n/a n/a n/a yes Tt heterozygous tall F1 no tt homozygous short F2 no

Punnett Squares Instead of doing all of that hard work for each of the possible outcomes under the Law of Segregation, we can do a Punnett Square (geneticist Reginald Punnett created it) Mother’s Gametes Father's Gametes T t T t TT Tt There is a 1 in 4 chance of the offspring being TT There is a 2 in 4 chance of the offspring being Tt There is a 1 in 4 chance of the offspring being tt 3 out of 4 plants = tall 1 out of 4 plants = dwarf Tall to dwarf = 3:1

Mendel’s Law of Independent Assortment Genes for two different traits are inherited independently There is no connection between them (e.g., plant height and seed color) Animation