Observable Patterns of Inheritance
- Mendels Insight Into Patterns of Inheritance
- Inheritance has always been intriguing to humans.
- "Blood" theory
Tribal belief or heredity.
- "Pangenes" and other theories attempted to examine the mystery of heredity
- By the late nineteenth century, natural selection suggested
that a population could evolve if members showed variation in heritable traits. Variations
that improved survival chances would be more common in each generationin time, the
population would change or evolve.
- The theory of natural selection did not fit with the prevailing view of
- Blending would produce uniform populationssuch populations could not evolve.
- Many observations did not fit blendingfor example, a white horse and a black horse
did not produce only gray offspring.
- Mendels Experimental Approach
- Gregor Mendel used experiments in plant breeding and knowledge of mathematics to
form his hypotheses.
- Mendel used the garden pea in his experiments.
- This plant can fertilize itself; true-breeding varieties were available to Mendel.
- Peas can also be cross-fertilized by human manipulation of the pollen.
- Mendel cross-fertilized true-breeding garden pea plants having clearly contrasting
traits (example: white vs. purple flowers).
- Some Terms Used in Genetics
- Genes are units of information about specific traits.
- Each gene has a locus on a chromosome.
- Diploid cells have two genes (a gene pair) for each traiteach on a homologous chromosome.
- Alleles are various molecular forms of a gene for the same trait.
- True-breeding lineage occurs when offspring inherit identical alleles,
generation after generation; non-identical alleles produce hybrid
- When both alleles are the same, the condition is called the homozygous
condition; if the alleles differ, then it is the heterozygous
- When heterozygous, one allele is dominant (A),
the other is recessive (a).
- Homozygous dominant = AA, homozygous recessive = aa, and heterozygous = Aa.
- Genotype is the molecular source of the traits or the "genes", and phenotype is the physical appearance caused by the genes.
- P = parental generation; F1 = first-generation offspring; F2 =
- Mendels Theory of Segregation
- Predicting the Outcome of Monohybrid Crosses
- Mendel suspected that every plant inherits two "units" (genes)
of information for a trait, one from each parent.
- Mendels first experiments were monohybrid crosses.
- One form of the trait disappears in the first generation offspring (F1), only to
show up in the second generation.
- We now know that all members of the first generation offspring are heterozygous because
one parent could produce only an A gamete and the other could produce only an a
- Results of the F2 generation required mathematical analysis.
- No blending! For example, the F2 offspring showed a 3:1 phenotypic ratio.
- Mendel assumed that each sperm has an equal probability of fertilizing an egg. This can
be seen most easily by using the Punnett square.
- Thus, each new plant has three chances in four of having at least one dominant allele.
- To support his concept of segregation, Mendel crossed F1 plants with homozygous
- A 1:1 ratio of recessive and dominant phenotypes supported his hypothesis.
- Mendels Theory of Segregation
- The Mendelian theory of segregation states that 2n organisms inherit two genes
per trait located on pairs of homologous chromosomes.
- During meiosis the two genes segregate from each other such that each gamete will
receive only one gene per trait.
- Independent Assortment
- Predicting the Outcome of Dihybrid Crosses
- Mendel also performed experiments involving two traitsa dihybrid cross.
- Mendel correctly predicted that all F1 plants would show both of the dominant
alleles (example: all purple flowers and all tall).
- Mendel wondered if the genes for flower color and plant height would travel together
when two F1 plants were crossed.
- We now know that genes located on nonhomologous chromosomes segregate
independently of each other and give the same phenotypic ratio as Mendel
- The Theory in Modern Form
- The Mendelian theory of independent assortment states that
during meiosis each gene of a pair tends to assort into gametes independently of other
gene pairs located on nonhomologous chromosomes.
- Mendel reported his ideas on heredity to the Brunn Society in 1865 and published them a
- Few people understood his principles or took note of them.
- He died in 1884 unaware of the revolutionary impact his ideas would have.
- Dominance Relations
- Incomplete Dominance
- In incomplete dominance, a dominant allele cannot
completely mask the expression of another..
- For example, a true-breeding red-flowered snapdragon crossed with a white-flowered
snapdragon will produce white flowers because there is not enough red pigment
(produced by the dominant allele) to completely mask the effects of the white allele.
- ABO Blood Types: A Case of Codominance
- In codominance, both alleles are expressed in heterozygotes (for example, humans with
both proteins are designated with blood type AB).
- Whenever more than two forms of alleles exist at a given locus, it is called a multiple allele system. In this instance it results in four
blood types: A, B, AB, and O.
- Multiple Effects of Single Genes
- Sometimes the expression of alleles at one location can have effects on two or more
traits; this is termed pleiotropy (think pliers).
- An excellent example of this phenomenon is the disease called sickle-cell anemia.
- The gene for codes for a variant form of hemoglobin.
- The altered hemoglobin in turn affects the shape of the red blood cells, which clump
together and block capillaries.
- Impaired gas flow damages tissues.
- Interactions Between Gene Pairs
- One gene pair can influence other gene pairs, with their combined activities producing
some effect on phenotype; this called epistasis.
- Hair Color in Mammals
- In Labrador retrievers, one gene pair codes for the quantity of melanin produced
while another codes for melanin deposition.
- Still another gene locus determines whether melanin will be produced at alllack of
any produces an albino (recessive).
- Less Predictable Variations in Traits
- Regarding the Unexpected Phenotype
- Tracking even a single gene through several generations may produce results that are
different than expected.
- Camptodactyly (immobile, bent fingers) can express itself on one hand only, both hands,
or neither due the possibility that a gene product is missing in one of the several steps
along the metabolic pathway.
- Continuous Variation in Populations
- A given phenotype can vary, by different degrees, from one individual to the next in a
- This is the result of interactions with other genes, and environmental influences.
- In humans, eye color and height are examples.
- . Examples of Environmental Effects on Phenotype
- Fur on the extremities of certain animals will be darker because the enzyme for melanin
production will operate at cooler temperatures but is sensitive to heat on the rest of the
- The color of the floral clusters on Hydrangea plants will vary depending on the
acidity of the soil.