Part 2: Heredity and Mendelian Genetics
Topics: The genetics of inheritance The inheritance of one trait The inheritance of two traits Beyond Mendel’s laws Pt. 1 Pt. 2
The Genetics of Inheritance Traits – specific characteristics that are encoded by DNA. Ex. Earlobes, Dimples, Curved Fingers, Rolling Tongue
Inheritance – The mechanism that transmits genetic information between generations.
Genetics – The branch of biology that deals with the principles of variation and inheritance.
Farmers knew about inheritance and variation for thousands of years before these principles were scientifically proven. People have been selectively breeding domesticated animal and plant species for millennia.
The actual mechanisms of how these processes occurred were unknown.
A few theories arose… The Greek philosophers: Hippocrates, 460-377 B.C.E., suggested that the body produced “seeds” and that these seeds fused to give rise to a new individual.
Aristotle, 384-322 B.C.E., proposed that male and female semen mixed upon conception.
In the 1500’s, English physician, William Harvey theorized that a process called epigenesis was how inheritance occurred. A process based upon the development of the embryo forming in stages, and affected by factors both inside and outside the mother.
Dutch Scientist and Microscopist, Anton van Leeuwenhoek, used a microscope in the mid to late 1600’s to examine the gametes of humans and other animals.
Leeuwenhoek later proposed that the male sperm actually contained a “preformed” embryo which would later be developed in the mother’s uterus.
Preformation Theory
Sperm and Egg at Conception
Charles Darwin suggested, in the mid 1800’s that children had characteristics that were variations of their parents traits, but he was unable to explain the basis of heredity.
The answer to how traits were inherited came from Darwin’s contemporary Gregor Mendel.
“The Father of Modern Genetics” Mendel’s Contributions “The Father of Modern Genetics” Gregor Mendel 1822-1884
The Inheritance of One Trait Gregor Mendel, an Austrian monk, studied the principles of inheritance using the common pea plant, Pisum sativum as an experimental model.
Prior to Mendel’s work at the Monastery of St Prior to Mendel’s work at the Monastery of St. Thomas in Brunn, he attended the University of Vienna. While at the University, his studies included Botany and Mathematics – training that would later prove to be invaluable.
Why did Mendel choose the pea plant (Pisum sativum) as an experimental model for his study?
The common pea plant was readily available throughout Europe. The plant was easy to grow and matured quickly.
The position of the sexual organs of the plant are entirely enclosed in the flower; this allowed Mendel control over how the plants reproduced. (i.e. self- or cross-pollination)
The plants exhibited seven distinct traits that could be easily observed between generations. Each trait had only two possible variations.
How did Mendel set up his experiment? The first thing he did was to set up a purebred plant population for each of the traits he wished to study.
This process ensured he was working with plants that were true-breeding. i.e. the plants produced predictable offspring when any two plants of the same purebred line were bred together.
Mendel prepared a purebred stock for each of the seven traits he studied. Each of these seven traits were easily identified in the physical appearance of the offspring generation.
The seven traits were: - seed shape - seed colour - flower colour - flower position - pod colour - pod shape - plant height
Before we jump in: - Solving genetics problems involves an understanding of PROBABILITY (the measure of how likely an event is). Complete the following:
To determine probabiliy: Mathematically To determine probabiliy: # of ways an event can occur = Total # of Outcomes
A Monohybrid Cross Mendel’s first experiment involved the crossing of a purebred tall plant with a purebred short plant. Mendel called this the P (parental) generation.
From this cross, the offspring were referred to as the F1 generation (first filial). These were called hybrids because they resulted from the crossing of two different purebred plants.
This type of cross is called monohybrid because only one trait, plant height, was involved.
A monohybrid cross… The P generation consists of one purebred tall and one purebred short plant P generation F1 generation The F1 generation consists of all tall plants
The results of the experiment Mendel’s first experiment showed that a ratio of 4 tall to 0 short plants appeared in the F1 generation. That is, all of the first filial generation plants were tall.
This led Mendel to conclude that the trait for tall plants must be dominant over the recessive trait for short plants.
Dominant & Recessive Traits Dominant Trait – a characteristic that is always expressed in an individual. Only one dominant allele must be present for the dominant trait to be expressed.
Recessive Trait – a trait that is not expressed unless both alleles that code for the recessive trait are present. In Mendel’s experiments, he found that one characteristic was always dominant over another characteristic.
Mendel’s Principle of Dominance When two different purebred individuals are crossed, the offspring will only express the dominant characteristic or trait.
Back to Exp. 1 – Monohybrid Cross Punnett Square Tall Plant T Short Plant t
Mendel’s next experiment involved the crossing of two offspring plants from experiment one. He allowed the hybrid tall plants of the F1 generation to undergo self- pollination.
Exp. 2 – Monohybrid Cross with F1 Offspring Punnett Square Tall Plant T t Tall Plant
This produced a second filial generation, that Mendel called the F2 generation. 75% (3/4) of plants in the F2 generation were tall while 25% (1/4) was short. This ratio of 3:1 has become known as the Mendelian Ratio.
Mendel drew four conclusions from his experiments: Each parent in the F1 generation begins with two hereditary “factors”. Individual factors are either dominant, or recessive.
The factors are separated in the parent and each parent contributes only one factor to each offspring.
Each offspring inherits one factor from each parent Each offspring inherits one factor from each parent. If the dominant factor is inherited by the offspring, it will be expressed; even if the recessive factor is also present. The recessive factor will only be expressed if no dominant factor is present.
The Law of Segregation Inherited traits are determined by pairs of “factors”. These factors segregate (separate) when the gametes are formed. One factor from each pair is present in each gamete.
F1 Hybrid Cross (Showing Segregation) F1 generation F1 Hybrid cross Typical 3:1 Mendelian Ratio F2 generation
What are “factors”? We now know that Mendel’s factors were genes. A gene can occur in one of two alternate forms called alleles.
When two alleles are present, a dominant allele is expressed and the recessive allele is not. Each of these alleles will pass on to the next generation where they may or may not be expressed.
The arrangement of alleles. Alleles can be identified by using a conventional two-letter code system. i.e. T (tall) or t (short)
The dominant trait name usually determines the letters of the alphabet to be used for the code. For example the two-letter code for a tall plant would be TT, with both alleles in the code being upper case for a dominant trait. The code for a short plant must be tt.
If the code read Tt, it should be understood that this individual would be hybrid tall – because of the presence of the lower case recessive allele.
The arrangement in which both alleles are represented by the same-case letter is called Homozygous. To clarify, one must indicate the organism as being either Homozygous dominant (TT), or as being Homozygous recessive (tt)
The arrangement in which both alleles are represented by two different-case letters is called Heterozygous.
The following terms will help you read about and describe heredity: Genotype refers to the alleles that an organism contains for a particular trait.
A tall-stem pea plant could have two different genotypes, TT and Tt A tall-stem pea plant could have two different genotypes, TT and Tt. A short-stem pea plant can have only one genotype, tt, since the allele for tall stems (T) is dominant over the allele for short stems (t).
Phenotype refers to the observable traits of an individual.
Since a pea plant can be tall or short, there are only two possible phenotypes for this characteristic. The tall phenotype may have two different genotypes, TT or Tt.
Sample Problem 1 Consider a cross between a pea plant that is heterozygous for round seeds and a pea plant that has wrinkled seeds. Determine the genotypes of the possible offspring.
Sample Problem 2 A plant that is homozygous for purple flowers is crossed with a plant that has white flowers. If the purple condition is dominant over the white condition, what are the genotypes and phenotypes of the F1 generation?
Sample Problem 3 Determine the genotypes of the parents if the following offspring are produced.