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Gregor Mendel
1822-1884
Foundation of genetics
Studied segregation of traits in garden peas beginning in 1854
Published theory of inheritance in 1865
“Experiments in plant hybridization”
“Why do we see similar phenotypes across generations”
Mendel’s Model Organism
The garden pea
What properties suggest that a model organism is suited to study inheritance?
Easy to work with
Produces large number of offspring
Notes about Mendel’s experiments
Examined discontinuous rather than continuous traits
Each trait was represented by 2 contrasting forms
Examined one or a few pairs of traits in each experiment
Looked for patterns and analyzed ration phenotypes seen in the offspring
Discontinuous Traits
Only get a few possibilities (either/or traits)
Continuous Traits
Multiple possible phenotypes in offspring
Monohybrid Crosses
True-breeding P generation
Analyze a single pair of contrasting traits
A cross between individuals differing in a single character
P Generation
Original parents
F1 Generation
1st filial generation, progeny of the P generation
Resembles only 1 of the parents
F2 generation
2nd filial generation, progeny of the F1 generation
Offspring of F1 generation crossed (self-fertilizing: “selfing”)
Mendel’s F2 Progeny
Showed BOTH phenotypes, not 1
(BOTH wrinkled and smooth)
Self-fertilized F1
Traits that disappeared in the F1 reappeared in the F2
Quantified mathematically and analyzed the results
Factors
Mendel’s reasoning that the information to create the trait was present in the F1 in this form
Now called genes
Mendel’s 3 Postulates
Unit factors exist in pairs
Genetic characters controlled by unit factors (genes)
Dominance/Recessiveness
In a pair of unit factors, one unit is dominant, the other recessive (now we know this does not apply to all traits)
Segregation
Paired unit factors segregate independently during gamete formation
Punnett Squares
Visualize the segregation and assortment of genes during meiosis and fertilization
Used to predict possible outcomes in offsprings
Mendel’s First Law
The Principle of Segregation: Genes are in pairs that separate in formation of sex cells
During the formation of gametes, the pair of alleles segregates randomly such that each gamete will receive one or the other allele with equal likelihood
During fertilization, the allelic pair is reestablished
Principle of Segregation is explained by:
The segregation of homologous chromosomes in meiosis
Test the rules of segregation
Perform self-crosses for multiple generations
Both traits appear in the offspring
Testcross
Tell us something about an organism that displays a dominant phenotype, but their genotype is unknown. The unknown genotype is either SS or Ss, results of this test tell us which is correct
Allele
Variant form of a gene; has its own DNA sequence
A diploid organism has __ alleles
2
A gamete produced by a diploid organism has __ alleles
1
Locus
Address for an allele on a chromosome
chromosome number, p or q arm, distance from centromere
Phenotype
Trait (characteristic) observed
Allele
Variant form of a gene. Alleles have different DNA sequences
Genotype
Your combination of alleles. Written in pairs (DD, Dd, or dd)
Homozygous (homozygote)
Both alleles are the same (AA/aa)
Heterozygous/heterozygote
Alleles are different (Aa)
AaxAa ratio
3:1 phenotypic ratio
1:2:1 genotypic ratio
Aaxaa ratio
1:1 genotypic and phenotypic ratio
Dihybrid Cross
Description of the inheritance of 2 traits
Dihybrid F2 ratio
9:3:3:1 phenotypic ratio
Principle of Independent Assortment is explained by:
The independent separation of homologous chromosomes in Meiosis I
Independent Assortment leads to:
Extensive genetic variation
Expected from crosses of heterozygotes with n independently assorting genes
Number of segregating gene pairs - n
Number of different gametes from F1- 2n
Number of phenotype classes in F2- 2n
Number of genotypes in F2- 3n
Frequency of homozygous recessive in F2- (1/4)n
Mendel’s Principal of Uniformity in F1
F1 offspring of a monohybrid cross of true-breeding strains resemble only one of the parents
Why: Dominance in traits
Mendel’s Principle of Segregation
Recessive characters masked in the F1 progeny of two true-breeding strains, reappear in a specific proportion of the F2 progeny
Why: During the formation of the gametes, the two factors (genes) for a specific trait segregate, so that each of the gametes receives one of the two factors for each trait
Mendel’s Principle of Independent Assortment
During gamete formation, segregating pairs of alleles for different traits assort independently of each other
Why: Genes on different chromosomes behave independently in gamete production
Mendel’s Theory of Inheritance
Traits are inherited as particles, offspring receive a particle from each parent (alleles)