Copyright Notice & Acknowledgments

• Many figures are under copyright by the publisher (Pearson Education Inc. 2005). • These lectures and figures are posted for the sole purpose of my students and should not be replicated or copied by any individuals not directly associated with my class.

Genetics
Image from: history.nih.gov/exhibits/genetics/images/main/collage.gif

Mendel and Beyond
Last Class…
Mendel derived two basic principles: 3. 4. Principle of Segregation: An individual has two alleles for each gene. One came from each parent. Principle of Independent Assortment: The alleles for two different genes are passed separately.

Today…
7. 8. Review of Mendelian Genetics Exceptions to Mendel’s Basic Rules

Review: Mendel
Mendel performed crosses to produce hybrids, the offspring of two different varieties. If the original parent plants only differed in one trait, then Mendel called it a monohybrid cross.

Cross 2 varieties

Cross 2 hybrids

Review: Mendel
From these crosses, Mendel derived the Principle of Segregation, which states that for each inherited characteristic, an organism has two alleles of a gene, one from each parent. Alleles are alternative forms of a gene.

Cross 2 varieties

Cross 2 hybrids

Review: Mendel
Just as alleles are passed from generation to generation in pea plants, they are passed from generation to generation in humans.

Cross 2 varieties

Cross 2 hybrids

Review: Mendel
Other conclusions from Mendel’s Work… • A sperm or egg carries only one allele for each gene, because allele pairs separate from each other during meiosis. • If an organism has two different alleles (Rr), then it is heterozygous. If they are the same (rr or RR), it is homozygous. • When the two alleles of a gene are different, one allele is often fully expressed while the other is not expressed. The allele that is fully expressed is the dominant allele, the allele that is not expressed is the recessive allele.

Review: Mendel

GENE LOCI P a B

DOMINANT allele

Homologous chromosome pair
P GENOTYPE: PP HOMOZYGOUS for the dominant allele a aa HOMOZYGOUS for the recessive allele b Bb HETEROZYGOUS
Figure 9.4 RECESSIVE allele

Review: Mendel
Gametes Some terms necessary to describe Mendel’s results: – gamete – allele Gametes – gene – homozygous – heterozygous – dominant allele Genotypic ratio 1 PP : 2 Pp : 1 pp – recessive allele – genotype Phenotypic ratio 3 purple : 1 white – phenotype

GENETIC MAKEUP (ALLELES) PP pp

All P

All p

All Pp

1

/2 P

1

/2 p

Eggs p

P PP Pp pp

P

Sperm p

Pp

Figure 9.3B

Review: Mendel
Mendel also followed two traits at once. • By looking at two characteristics at once, Mendel found that the alleles of a pair segregate independently of other allele pairs during gamete formation. This is known as the principle of independent assortment. • Dihybrid crosses are crosses in which the parents differ in two genes.
SEED COLOR SEED SHAPE Yellow Green

Round

Wrinkled

Review: Mendel
RRYY rryy

Dihybrid Cross

Gametes

RY

ry

RrYy

Eggs
1

1

/4 RY R RYY

1

/4 RY
1

/4 rY RrYY RRYy

/4 rY
1

1

/4 Ry

RrYY rrYY RrYy RrYy RRyy

/4 Ry
1

1

/4 ry RrYy

/4 ry
9

RrYy rrYy Rryy rryy

RrYy rrYy

/16 /16 /16 /16

3

Yellow round Green round Yellow wrinkled Yellow wrinkled

Rryy

3

1

Mendel’s principles are simple…
• Mendel’s principles state that there is a clear, simple and consistent relationship between genotype and phenotype. • For example, in the case of flower color, one allele is dominant (P), and one allele is recessive (p). The dominant allele is always expressed over the recessive allele. • As another example, two traits always assort independently. So, if a plant has wrinkled seeds it’s not more or less likely to have yellow seeds.

SEED COLOR SEED SHAPE

Yellow

Green

Round

Wrinkled

… but life isn’t always simple.
There are exceptions to Mendel’s Rules. 2. Sometimes, phenotype is somewhere in the middle of the two parents. 3. Sometimes, both alleles are expressed. 4. Sometimes, there are more than two alleles of a gene in a population. 5. One gene may control many different phenotypic characteristics. 6. One phenotypic characteristic may be controlled by many genes. 7. Genes on the same chromosome tend to be inherited together, so alleles don’t always assort independently. 8. Genes on sex chromosomes act differently.

1. Incomplete Dominance
• When an offspring’s phenotype is in between the phenotypes of its parents, neither allele is dominant over the other. • In this case, the heterozygotes (Rr) have some red color, but not as much as the RR individuals.
P GENERATION Red RR Gametes R r White rr

F1 GENERATION

Pink Rr

1

/2

R

1

/2 r

Eggs
1

1

/2

R Red RR

1

/2 R
1

Sperm /2 r

/2

r Pink Rr

F2 GENERATION

Pink rR White rr

Figure 9.12A

1. Incomplete Dominance

Figure 9.12Ax

1. Incomplete Dominance
human hypercholesterolemia: a condition where diseased cells lack LDL receptors, leading to cholesterol build-up.
GENOTYPES: HH Homozygous for ability to make LDL receptors Hh Heterozygous PHENOTYPES: LDL hh Homozygous for inability to make LDL receptors

LDL receptor

Cell Normal
Figure 9.12B

Mild disease

Severe disease

2. Codominance
Sickle Cell and Codominance

• When both alleles in a heterozygote code for proteins, both proteins may be expressed. • For example, the two sickle cell alleles are codominant.
RR individuals have only normal red blood cells. Rr individuals have only both red blood cell types. rr individuals have only sickled red blood cells.

Cool Fact of the Day…
Sickle Cell and Codominance

The evolutionary importance of sickle cell gene codominance

RR individuals have only normal red blood cells.

Rr individuals have only both red blood cell types.

rr individuals have only sickled red blood cells.

Cool Fact of the Day…
• Heterozygotes (carriers of the sickle cell allele) have only some sickled cells. • These cells seems to only sickle under low oxygen conditions when the cells are stressed. • The sickled cells are then targeted for destruction.

Rr individuals have only both red blood cell types.

Cool Fact of the Day…
• Plasmodium, the parasites that cause malaria, are transmitted to humans by mosquitoes. They then pass through a complex life cycle in the human host. • During part of this life cycle, they live in red blood cells.

plasmodium life cycle

http://images.encarta.msn.com/xrefmedia/aencmed/targets/illus/ilt/T073615A.gif

Cool Fact of the Day…

It is thought that the red blood cells of carriers may sickle when they carry the parasite. The body then destroys them and the parasite population decreases inside the body.

Cool Fact of the Day…
Distribution of Sickle Cell Allele Distribution of Malaria Parasite

http://evolution.berkeley.edu/evolibrary/article/0_0_0/history_19

3. More than two alleles for one gene
• In a population, multiple alleles often exist for a characteristic. For example, there are three alleles for blood type in humans: A, B and O • The ABO blood groups refer to two carbohydrates, designated A and B, that are found on the surface of red blood cells • A person’s blood cells may be coated with either A or B, or both (AB) or neither (O). A and B are codominant.

3. More than two alleles for one gene
• If a donor’s blood cells have foreign carbohydrates, the recipients body will produce antibodies to the foreign carbohydrate and cause the donor blood cells to clump together. This can be fatal for the recipient of a transfusion.

4. One gene may affect many characteristics.
Pleiotropy: when one gene affects many phenotypic characteristics

Individual homozygous for sickle-cell allele

Sickle-cell (abnormal) hemoglobin Abnormal hemoglobin crystallizes, causing red blood cells to become sickle-shaped

Sickle cells

Breakdown of red blood cells

Clumping of cells and clogging of small blood vessels

Accumulation of sickled cells in spleen

Physical weakness

Anemia

Heart failure

Pain and fever

Brain damage

Damage to other organs

Spleen damage

Impaired mental function

Paralysis

Pneumonia and other infections

Rheumatism

Kidney failure

Figure 9.14

5. A single characteristic may be influenced by many genes.
Example: Skin Color
Fraction of population

This situation creates a continuum of phenotypes.

Skin pigmentation

Figure 9.16

6. Alleles do not always assort independently.
• The principle of independent assortment states that one trait is passed on independently of others. • However, if two alleles are on the same chromosome, they are likely to be passed on together.
SEED COLOR SEED SHAPE

Yellow

Green

Round

Wrinkled

6. Alleles do not always assort independently.
• The distance of two alleles on a chromosome will also affect the likelihood that they stay together. • If they are close together, they are likely to get passed on together. If they are far apart, the may get exchanged during meiosis.
A A B B a b

a

b Crossing over

A

b

a

B

Tetrad

Gametes

6. Genes on sex chromosomes exhibit a unique pattern of inheritance.
Some Basics of Human Sex… • A human male has one X chromosome and one Y chromosome. • A human female has two X chromosomes. • Whether a sperm cell has an X or Y chromosome determines the sex of the offspring.

6. Genes on sex chromosomes exhibit a unique pattern of inheritance.
All genes on the sex chromosomes are said to be sex-linked.
– In humans, relatively few genes are carried on the Y chromosome. – The X chromosome, however carries many genes unrelated to sex.

Eye color is fruit flies is controlled by a gene on the X chromosome.

6. Genes on sex chromosomes exhibit a unique pattern of inheritance.
Female Male Female Male Female Male

XRXR
XR

XrY
Xr Y

XRXr
XR Xr

XRY
XR Y

XRXr
XR Xr

XrY
Xr

XRXr XRY

XRXR XRY
XrY

XRXr XrXr
XrY

Y

XrXR

XRY

R = red-eye allele r = white-eye allele

Figure 9.22B-D

Eye color is fruit flies is controlled by a gene on the X chromosome.

6. Genes on sex chromosomes exhibit a unique pattern of inheritance.
Red-Green colorblindness is a sex-linked disease.

• Most sex-linked diseases are caused by recessive alleles on the X chromosome. • These diseases are more likely to affect males than females. Why?

Figure 9.23A

Summary: Mendel’s principles are simple…
• Mendel’s principles state that there is a clear, simple and consistent relationship between genotype and phenotype. • For example, in the case of flower color, one allele is dominant (P), and one allele is recessive (p). The dominant allele is always expressed over the recessive allele. • As another example, two traits always assort independently. So, if a plant has wrinkled seeds it’s not more or less likely to have yellow seeds.

… but life isn’t always simple.
There are exceptions to Mendel’s Rules: 2. Sometimes, phenotype is somewhere in the middle of the two parents. 3. Sometimes, both alleles are expressed. 4. Sometimes, there are more than two alleles of a gene in a population. 5. One gene may control many different phenotypic characteristics. 6. One phenotypic characteristic may be controlled by many genes. 7. Genes on the same chromosome tend to be inherited together, so alleles don’t always assort independently. 8. Genes on sex chromosomes act differently.

And it all comes back to evolution…
The Intersection of Darwin and Mendel

Natural selection is a mechanism that occurs when organisms, having inherited variations, are exposed to environmental factors that favor the reproductive success of some individuals over others
Figure 1.6B

(1) Population with varied inherited traits

(2) Elimination of individuals with certain traits

(3) Reproduction of survivors

Evolution explains the unity and diversity of life.
Darwin knew that parents must be passing on something that caused their children to have the same adaptation as they did, but he did not know what that something was. We know that parents pass on DNA, the genetic material of life. This DNA is passed on according to Mendel’s laws and basic genetic principles.

Evolution explains the unity and diversity of life.
• Charles Darwin published On the Origins of Species in 1859. • Mendel began his experiments in 1856 and presented his results in 1865. • The experiment showing that DNA is genetic material of life was not conducted until 1952.