Chapter 14Mendel and the Gene Idea

Gregor Mendels Discoveries Mendel brought an experimental and quantitative approach to studying heredity- this is the field of Genetics.

Discovered particulate (vs. blending) nature of heredity.

Discovered alleles, and their dominant/recessive nature.

Discovered that alleles segregate (packaged into gametes independently).

Discovered that pairs of alleles segregate independently. These discoveries occurred before chromosomes or DNA known.

Contemporary of Darwin.

Mendel conducted his research using peas. Why?

-Peas have a variety of characters and traits that were easily studied. -Characters are heritable features (e.g., flower color). -Each variant of a character is called a trait (e.g., purple or white flower).

-Some selected characters used by Mendel were: flower color, seed color, seed shape, and stem length.

Mendel chose to study only characters with either/or traits.

The pea traits that he studied are discontinuous traits, meaning the traits are either one way or the other (no inbetween or gradations). For example, pea plants had either purple or white flowers; smooth or wrinkled seeds. This allowed Mendel to discern how traits are passed from one generation to the next. Many traits have gradations instead. One example is the carnation flowers colors.

Sweet pea flowers

Round and wrinkled peas

There were other reasons that Mendel used pea plants.

Stamens (male reproductive organs) could be removed to control mating- so no self-fertilization. Thus, he could mate male and female gametes as he chose and could control his experiments.

This was be done by taking pollen (sperm) from one plant, and adding it to the carpel (female organ) of another plant that had its stamen removed.

By fertilizing plants by hand, the parents of each pea seed would be known.

In addition, Mendel used only true-breeding plants. I.e., the traits remain constant after self-fertilization. This means that the plants contained two identical versions (alleles) of the gene encoding the trait. For example, if a pea plant has only genes for white flowers, if it self-fertilizes, all the offspring will only have genes for white flowers.

In his breeding experiments, Mendel did the following, and tracked heritable characteristics for three generations:

1) Produced offspring by hybridization.

Hybridization is the mating of two (2) true-breeding individuals.

True-breeding parents are called the P generation.

Hybrid offspring are called the F1 generation.

2) He then allowed the F1 generation to self-pollinate. The offspring of this group are called the F2 generation.

Mendel studies established two important principles of genetics:

1. Law of Segregation 2. Law of Independent Assortment

1. Tenets of the Law of Segregation: a. There are multiple versions of the same gene (each version is a different allele). b. Each organism inherits two (2) alleles for each character; one allele from each parent. c. If the two alleles are different, then the dominant allele is fully expressed; the recessive allele has no noticeable effect on the organisms appearance. d. The two alleles for each character separate during gamete production (occurs during meiosis) Segregation

Punnett Square: used for predicting results of a genetic cross between two individuals of known genotypes. It is used to illustrate the 3:1 ratio that Mendel observed in the F2 generation. Homozygous: contains identical alleles for a character Heterozygous: contains two different alleles for a character Phenotype: an organisms traits Genotype: an organisms genetic makeup

Segregation of alleles and fertilization as chance events

Using a Punnett Square to reveal genotype: by testcross By breeding an organism of unknown genotype with an organism with a homozygous recessive individual, we can determine the genotype of the unknown individual. The ratio of phenotypes in the offspring is used to determine unknown genotype.

Example:

2. Law of Independent Assortment Mendel did most of his experiments by following only a single character at a time.

Instead, one can follow two characters at a time, to demonstrate their Independent Assortment.
Each allele pair segregates independently during gamete formation. These experiments use a dihybrid cross.

If independent, the combination of two traits gives a 9:3:3:1 ratio!

Beyond Simple Mendelian Genetics: many factors can make genetics more complex than Mendel saw, including:
1. Incomplete dominance F1 hybrids have a phenotype somewhere in between the phenotypes of the two parents.

Example: Incomplete dominance in snapdragon color.

2. Dominance vs. co-dominance

Both alleles are equally expressed.

Example: MN blood grouping

-Two alleles for surface molecules of blood, M or N

-So, either MM, MN, or NN

3. Multiple alleles

Most genes have more than two (2) alleles.

Example: Blood type = A; B; AB; O

4. Pleiotropy
Most genes affect an organism in many ways; they dont affect just one phenotypic character. Example: The many effects of sickle cell anemia.

5. Epistasis

One gene affects the expression of another gene.

Example: In the following case with mice, the gene for color is B where BB = black, and bb = brown. But a second gene, C, determines whether pigment can be produced. C allows for pigment to be produced. c does not allow pigment to be produced (albino).

6. Polygenic inheritance Two or more genes affect one phenotypic character; the opposite of pleiotropy.

These are called quantitative characters.

Example: skin color, where three genes impart color.

7. Environmental impact on gene expression

Environmental factors/conditions may alter gene expression. Remember: genotype = genes phenotype = genes + environment and phenotype range can be narrow or wide (depending on character) Example: Soil pH and flower color.

Mendelian Inheritance in Humans

We are unable to manipulate mating patterns of humans for experimentation. For this reason, Traits are studied by gathering information and placing it into a family tree.

The inter-relationships among parents and children across generations are called the family pedigree.

Many Human Disorders Follow Mendelian Patterns of Inheritance

1. Recessively Inherited Disorders

- Heterozygous individuals exhibit normal phenotype because one copy of the normal allele is typically sufficient. - Heterozygotes, who are phenotypically normal, are called carriers. They may transmit the recessive allele to their offspring. - Cystic fibrosis - Tay-Sachs disease - Sickle-cell disease

2. Dominantly Inherited Disorders Lethal dominant alleles are uncommon because, if they cause death before maturity, then the allele will not be passed to future generations. Example: Huntingtons disease (nervous disorder) is caused by a late-acting allele and is sometimes passed to future generations. 3. Multifactorial Disorders Most diseases are influenced not only by genetics, but also by environmental factors. Example: Heart disease, diabetes, cancer, alcoholism, mental illnesses.

Technology for Genetic Testing and Counseling 1. Carrier Recognition Determine whether prospective parents are heterozygous carriers of a recessive trait. Identify carriers of diseases such as Tay-Sachs, sickle cell, or cystic fibrosis. Ethical issues?

2. Fetal Testing a. Inserting a needle into the uterus, physicians can extract amniotic fluid. In some cases, the fluid can be used to detect genetic disorders. The technique is known as amniocentesis. In rare cases, amniocentesis can cause complications or fetal death, so reserved when greatest risk for defect. b. An alternative technique is called chorionic villus sampling (CVS). A tube is inserted through the cervix and fetal tissue from the placenta is extracted. c. Other techniques, such as ultrasound, can be used to examine the fetus directly for physical abnormalities.

3. Newborn Screening Some genetic disorders can be detected by simple tests performed soon after birth.

Phenylketonuria (PKU): inability to break down phenylalanine.