Mendelian Genetics

The grandfather of modern genetics and breeding

 The first quantitative studies of inheritance were carried out by Gregor Mendel.  Austrian monk. Born in 1822 to peasant parents, Mendel was educated in a monastery and went on to study science and mathematics  He returned to the monastery and spent the rest of his life there, eventually becoming abbot.  In the garden of the monastery, Mendel initiated a series of experiments on plant hybridization.  The results of these experiments would ultimately change our views of heredity irrevocably.

Why Mendel Chose the Garden Pea

1. Many earlier investigators had produced hybrid peas by crossing different varieties. 2. A large number of true-breeding varieties of peas were available. 3. Pea plants are small and easy to grow, and they have a relatively short generation time. 4. Advantage of studying peas is that the sexual organs of the pea are enclosed within the flower.

The seven pea characteristics studied by Mendel

Flower color

Purple

White

Flower position Seed color Seed shape Pod shape Pod color

Axial Yellow Round Inflated Green

Terminal Green Wrinkled Constricted Yellow

Stem length

Tall

Dwarf

Mendels Experimental Design

1. Self-Fertilize & SelfProduce a True-Breeding TrueGeneration

2. Produce first filial generation (F1) Transfer pollen from one parent to the other.

3. Let F1 generation selfselffertilize to produce a second filial generation (F2)

Copyright The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Anthers removed All purple flowers result

Results of Mendels Crosses

Results of Mendels Crosses

Genetic Terms
 Genotype: genetic makeup of an organism or alleles Genotype: carried by an individual or Arrangement of genes that produces the phenotype  Phenotype: physical characteristic or appearance Phenotype: of an individual Example: 1. Tall pea plant TT = tall (homozygous dominant) 2. Tall pea plant Tt = tall (heterozygous) 3. Dwarf pea plant tt = dwarf (homozygous recessive)

 Homozygous parents can only pass one form of an allele to their offspring. offspring.

Homozygous parent

Gametes

 Heterozygous parents can pass either of two forms of an allele to their offspring. offspring.

Heterozygous parent

Gametes

 Dominant allele: allele: The general term for an allele that masks the presence of another allele in the phenotype. phenotype.

 Recessive allele: allele: The general term for an allele that is masked in the phenotype by the presence of another allele. allele.

A Disguised 1:2:1 Ratio Mendel went on to examine how the F2 plants passed traits on to subsequent generations. He found that the recessive were always truebreeding. This result suggested that, for the entire sample, the 3:1 ratio that Mendel observed in the F2 generation was really a disguised 1:2:1 ratio: pure-breeding dominant individuals. not pure- breeding dominant individuals. pure-breeding recessive individuals (figure 13.12).

Mendels Model of Heredity

From his experiments, Mendel was able to understand four things about the nature of heredity. heredity. First: First: The plants he crossed did not produce progeny of intermediate appearance. appearance. Second: Second: Mendel learned that for each pair of alternative forms of a character, one alternative was not expressed in the F1 hybrids, although it reappeared in some F2 individuals. individuals. Third: Third: The pairs of alternative traits examined segregated among the progeny of a particular cross, some individuals exhibiting one trait, some the other. other. Fourth: Fourth: These alternative traits were expressed in the F2 generation in the ratio of dominant to recessive. recessive.

Punnett square
 A Punnett square is used to show the possible combinations of gametes. gametes.

Segregation and fertilization as chance events

White Flower (pp)

Purple Flower (PP)

Gametes

Gametes

White Flower (pp)

Gametes

Purple Flower (PP)

P Gametes P

Pp Pp Pp Pp

Pp Pp Pp Pp

F1 generation

Second Filial Generation (F2)

Purple Flower (Pp)
Gametes p P

Phenotypic Ratio = 3:1 Genotypic Ratio = 1:2:1

PP PP Pp Pp

Purple Flower (Pp)

Gametes p

Pp Pp pp pp

 To explain these results, Mendel proposed a simple model.  It has become one of the most famous models in the history of science, containing simple assumptions and making clear predictions.  The model has five elements: 1. Parents do not transmit physiological traits directly to their offspring. Rather, they transmit discrete information about the traits, what Mendel called factors. 2. Each individual receives two factors that may code for the same trait or for two alternative traits for a character.

3. Not all copies of a factor are identical. 4. The two alleles, one contributed by the male gamete and one by the female, do not influence each other in any way. 5. The presence of a particular allele does not ensure that the trait encoded by it will be expressed in an individual carrying that allele.

Mendels First Law of Heredity: Segregation

Alternative alleles of a character segregate from each other in heterozygous individuals and remain distinct

Phenotype vs. genotype

 SS and Ss
Two different genotype The same phenotype

 How do you distinguish these two genotypes experimentally (like Mendel)?

How can we know if it is homozygous (PP) or heterozygous (Pp)?

Test Cross: Cross:

A mating between an individual of unknown genotype and a homozygous recessive individual. individual.

Test Cross: Confirmation of Segregation

Mendels Second Law of Heredity

Independent Assortment

A modern restatement of Mendels Second Law would be that: genes that are located on different chromosomes assort independently during meiosis.

Mendelian inheritance is not always easy to analyze

 In the decades following the rediscovery of Mendel, many investigators set out to test Mendels ideas.  However, scientists attempting to confirm Mendels theory often had trouble obtaining the same simple ratios he had reported.  Most phenotypes reflect the action of many genes that act sequentially or jointly, and the phenotype can be affected by alleles that lack complete dominance and the environment.

Continuous Variation

We call this gradation continuous variation.

Pleiotropic Effects  Often, an individual allele will have more than one effect on the phenotype. Such an allele is said to be pleiotropic.  When French geneticist Cuenot studied yellow fur in mice he was unable to obtain a true-breeding yellow strain by crossing individual yellow mice with each other.  Individuals homozygous for the yellow allele died, because the yellow allele was pleiotropic.  A pleiotropic allele may be dominant with respect to one phenotypic consequence (yellow fur) and recessive with respect to another (lethal developmental defect).

 Pleiotropic effects are characteristic of many inherited disorders sickle cell anemia.  In these disorders, multiple symptoms can be traced back to a single gene defect.  In sickle cell anemia, a defect in the oxygencarrying hemoglobin molecule causes anemia, heart failure, kidney failure, enlargement of the spleen, and many other symptoms.

Lack of Complete Dominance  Not all alternative alleles are fully dominant or fully recessive in heterozygotes.  Some pairs of alleles instead produce a heterozygous phenotype that is either intermediate between those of the parents (incomplete dominance), or representative of both parental phenotypes (codominance).  For example, in the cross of red and white flowering Japanese four oclocks, all the F1 offspring had pink flowersindicating that neither red nor white flower color was dominant.  Does this example of incomplete dominance argue that Mendel was wrong?

Environmental Effects  The degree to which an allele is expressed may depend on the environment.  Some alleles are heat-sensitive, for example.  Traits influenced by such alleles are more sensitive to temperature or light than are the products of other alleles.  The arctic foxes make fur pigment only when the weather is warm.

Epistasis
 When individuals heterozygous for two different genes mate (a dihybrid cross), four different phenotypes are possible among the progeny: offspring may display the dominant phenotype for both genes, either one of the genes, or for neither gene.  Sometimes, however, it is not possible for an investigator to identify successfully each of the four phenotypic classes, because two or more of the classes look alike.  Such situations proved confusing to investigators following Mendel.

 What was happening?  Mendel had predicted 16 equally possible ways gametes could combine.  How many of these were in each of the two types Emerson obtained?  He multiplied the fraction that were pigment producers (0.56) by 16 to obtain 9, and multiplied the fraction that were not (0.44) by 16 to obtain 7.  Thus, Emerson had a modified ratio of 9:7 instead of the usual 9:3:3:1 ratio.

Why Was Emersons Ratio Modified?  When genes act sequentially, as in a biochemical pathway, an allele expressed as a defective enzyme early in the pathway blocks the flow of material through the rest of the pathway.  Such gene interaction, where one gene can interfere with the expression of another gene, is the basis of the phenomenon called epistasis.  The pigment anthocyanin is the product of a two-step biochemical pathway:

Multiple Alleles: The ABO Blood Groups  A gene may have more than two alleles in a population, and most genes possess several different alleles.  Often, no single allele is dominant; instead, each allele has its own effect, and the alleles are considered codominant.  This gene encodes an enzyme that adds sugar molecules to lipids on the surface of red blood cells.  The gene that encodes the enzyme, designated I, has three common alleles: IB, whose product adds galactose; IA, whose product adds galactosamine; and i, which codes for a protein that does not add a sugar.

Human Blood Groups

Phenotype A A B B AB O Genotype IAIA IAi IB IB IB i IAIB ii Antigen present A A B B A&B None Antibody produced Anti-B Anti-B Anti-A Anti-A None Anti-A & AntiB

Blood Antigen Test Red Blood Cell Antigen A B AB O Antiserum Added Anti-A Anti-B Anti-A & Anti-B Neither Anti-A nor Anti-B Results clump clump both clump no clump

 If a type A individual receives a transfusion of type B blood, the recipients immune system recognizes that the type B blood cells possess a foreign antigen (galactose) and attacks the donated blood cells, causing the cells to clump, or agglutinate.  This also happens if the donated blood is type AB.  However, if the donated blood is type O, no immune attack will occur, as there are no galactose antigens on the surfaces of blood cells produced by the type O donor.  In general, any individuals immune system will tolerate a transfusion of type O blood.

The Rh Blood Group  Another set of cell surface markers on human red blood cells.  Rh-negative persons lack this cell surface marker because they are homozygous for the recessive gene encoding it.  At birth, some fetal red blood cells cross the placental barrier and enter the mothers bloodstream, where they induce the production of anti- Rh antibodies.  In subsequent pregnancies, the mothers antibodies can cross back to the new fetus and cause its red blood cells to clump, leading to a potentially fatal condition called erythroblastosis fetalis.

 Question: How produced for arrangements?  Remember:

1. 2. 3. RrYy AaBbCCDd

many the

gametes will be following allele

2n (n = # of heterozygotes)

MmNnOoPPQQRrssTtQq

Answer: 1. RrYy: 2n = 22 = 4 gametes RrYy: RY Ry rY ry 2. AaBbCCDd: 2n = 23 = 8 gametes AaBbCCDd: ABCD ABCd AbCD AbCd aBCD aBCd abCD abCD 3. MmNnOoPPQQRrssTtQq: 2n = 26 = 64 gametes MmNnOoPPQQRrssTtQq:

Incomplete dominance

Examples of inherited traits in humans

Dominant Traits Recessive Traits

Freckles

No freckles

Widows peak

Straight hairline

Free earlobe

Attached earlobe