Mendel’s Legacy Genetics is everywhere these days – and it will continue as a dominant force in biology and society for decades to come. Wouldn’t it be nice if people understood it better?

The Fundamental Question What is the relationship between genes (genotype) and observable characteristics (phenotype)? The answer? Phenotype = Genotype + Environment.

Genes and Environment Determine Characters Genetically identical hydrangeas growing in soils of different acidity (different environments). The phenotype = genotype + environment principle applies equally to human traits.

Dangerously Ahead of the Game - A Eugenics Exhibit at the 1920 Kansas State Fair Can history be repeated?

A Mendelian Genetic Primer Genes come in pairs that separate in the formation of gametes. The members of the pair may be identical (homozygous) or non-identical (heterozygous). Each form of a particular gene is an allele.

A Mendelian Genetic Primer One allele is dominant over another (or so Mendel believed). Only two alleles of a given gene are possible in an individual although many alleles of a gene are possible within a population.

Genes, Alleles, and Chromosomes

Mendel’s Model Organism – the Garden Pea

The Reality of “Round and Wrinkled” – Two Alternative Traits of the Seed Shape Character Note that each of seed is a new individual of a different generation – seeds are not of the same generation as the plant that bears them.

Mendel’s Monohybrid Cross – P to F 1 A Punnett square, something we’ll cover in a moment.

Staying the Course – Mendel Continued Crosses to the F 2 (the grandchildren) What was learned? The green trait was not lost or altered, even though it disappeared in the F 1. One trait is dominant to the other in its expression. The reappearance of the recessive trait in ¼ of the F 2, suggests genes come in pairs that separate in the formation of sex cells.

Monohybrid Crosses and the Principle of Segregation A cross between individuals differing in single character is a monohybrid cross. The analysis of monohybrid crosses allowed Mendel to deduce the Principle of Segregation.... Genes come in pairs that separate in the formation of sex cells (and these sex cells unite randomly at fertilization).

Principle of Segregation Demystified The principle of segregation is explained by the behavior of homologous chromosomes at meiosis. Segregation

A Punnett Square is a Handy Way of Analyzing Crosses In a Punnett square for a monohybrid cross, the Principle of Segregation is applied.

Different Genotypes Can Produce the Same Phenotype

Consistency is Good Characters investigated by Mendel No matter what the character, Mendel observed a 3:1 ratio of characters in the F 2.

Monohybrid Crosses Yielded Consistent Results Therefore, the Principle of Segregation indeed is a general principle of genetics.

What Works for Peas Also Works for Humans An albino woman In the cross Aa x Aa, where A is a dominant allele for wild type (standard) pigmentation and a is a recessive allele for no pigmentation (albinism), ¾ of offspring will be wild type and ¼ will be albino.

Are Different Characters Like Color and Shape Inherited Together or Inherited Independently? Mendel performed dihybrid crosses to find out. Mendel’s conclusion: Different characters are inherited independently.

Why Did Mendel Conclude That The Inheritance of one Trait is Independent of Another? Because it’s the only way to explain the pattern of inheritance. The alternative and incorrect hypothesis: dependent inheritance.

The Punnett Square for a Dihybrid Cross Note that we’re simultaneously applying the Principles of Segregations and Independent Assortment.

The Independent Alignment of Different Pairs of Homologous Chromosomes At Meiosis Accounts for the Principle of Independent Assortment The alignment of one pair of homologs is independent of any other. Principle of Independent Assortment: The assortment of one pair of genes into gametes is independent of the assortment of another pair of genes.

Consider a cross between parents heterozygous for both deafness and albinism. This is the same 9:3:3:1 ratio seen for Mendel’s cross involving pea color and shape. What Works for Peas Also Works for Humans

Some Alleles Are Related Through Incomplete Dominance Dominance relationships may differ, but the Principle of Segregation remains the same.

Pleiotropy – When One Allele Influences Many Traits

Pleiotropy in Action Anemia, infections, weakness, impaired growth, liver and spleen failure, death. Traits (phenotypes) associated with the sickle cell allele.

Polygenic Inheritance – When a Single Trait is Influenced by Many Genes Height is a polygenic trait

Multiple Alleles Many genes are present in 3 or more versions (alleles) – this is known as multiple alleles. The human ABO blood group is determined by three alleles (I A, I B, and i) of a single gene.

Codominance The human ABO blood group illustrates another genetic phenomenon – codominance. Codominance occurs when the phenotype associated with each allele is expressed in the heterozygote. The AB phenotype (genotype I A I B ) is an example of codominance