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• 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

The Principles of Inheritance
Genetics is the science of heredity:
• Remember, we inherit DNA from our parents. • DNA dictates what proteins we can make, which in turn affects many of our physical and mental characteristics. In the next two to three classes, we’ll cover: • The basic principles of heredity • Deviations from these basic patterns • Some tools used to study genetics

An Example of Inheritance
These black Labrador puppies are purebred, their parents and grandparents were black labs with very similar genetic makeup.
Purebreds often suffer from genetic diseases. We’ll come back to this at the end of class and try to determine why that is the case.

An Example of Inheritance
The parents of these puppies were a mixture of different breeds.

Their behavior and appearance is more varied as a result of their diverse genetic inheritance

The Roots of Genetics
• The science of heredity dates back to ancient attempts at selective breeding. • Until the 20th century, however, many biologists erroneously believed that…
– characteristics acquired during a lifetime could be passed on. – characteristics of both parents blended irreversibly in their offspring.

The Roots of Genetics
Hypothesis #1: Characteristics acquired during a lifetime could be passed on.

Wrong !

The Roots of Genetics
Hypothesis #2: Characteristics of both parents blended irreversibly in their offspring.

Wrong !

So, how are characteristics acquired from parents?
Modern genetics to answer this question began with Gregor Mendel in…

Figure 9.2Ax

Mendel’s Experiments
Purple and White Sweet Pea Flowers

Figure 9.3x

Mendel’s Experiments
Mendel crossed pea plants that differed in certain characteristics and traced the traits from generation to generation. This technique is known as cross fertilization.

1

Removed stamens from purple flower

White

Stamens Carpel PARENTS (P) Purple

2 Transferred

pollen from stamens of white flower to carpel of purple flower

3 Pollinated carpel

matured into pod

4
OFFSPRING (F1)

Planted seeds from pod

Figure 9.2C

Mendel’s Experiments
Mendel studied seven pea characteristics.

FLOWER COLOR

Purple

White

FLOWER POSITION

Axial

Terminal

SEED COLOR SEED SHAPE

Yellow

Green

Round

Wrinkled

POD SHAPE

Inflated

Constricted

POD COLOR

Green

Yellow

Figure 9.2D

STEM LENGTH

Tall

Dwarf

What made Mendel’s experiments successful?
1. Mendel was meticulous in conducting the experiments and recording the data. 2. Pea plants were a good choice because they were able to be manipulated and fertilization could be controlled. 3. Mendel carefully chose seven characteristics, each of which occurred in two distinct forms.

To understand Mendel’s results, you need to think a little about probability.
• Half the time Mom will give a B and Dad will give a B, so the probability of a child getting BB is ½ x ½ = ¼ • Half the time Mom will get a B and Dad will give a b. Half the time, the opposite will happen. So, the probability of a child getting Bb is (½ x ½) + (½ x ½) =½
Bb female Formation of eggs Bb male Formation of sperm

1

B
1

/2

B

/2 B B
1 1

b
1

/2

b

/2 b
1

/4 B
1

B /4 b
1

b /4

b /4 Figure 9.7

Mendel’s Experimental Results
• With this basic understanding of probabilities, we can begin to understand Mendel’s experimental conclusion, the principle of segregation.
• Based on his experiments, he hypothesized that there are alternative forms of units that determine heredity. We now call those units ‘genes’, and we call the alternative forms of genes ‘alleles’.

Mendel’s Experiments…
Mendel performed crosses to produce hybrids, the offspring of two different varieties.

Cross 2 varieties

Cross 2 hybrids

Mendel’s Experiments…
• P generation = parental generation • F1 = offspring in the cross of P individuals • F2 = offspring in cross of F1 individuals.
P generation

F1 generation Fertilization among F1 plants (F1 x F1)

F2 generation

/4 of plants have purple flowers
3

/4 of plants have white flowers
1

Figure 9.3A

Mendel’s Experiments…
This is a monohybrid cross. The plants differ in only one characteristic – color.
P generation

F1 generation Fertilization among F1 plants (F1 x F1)

F2 generation

/4 of plants have purple flowers
3

/4 of plants have white flowers
1

Figure 9.3A

Mendel’s Experiments…
PP

P generation

pp

From his monohybrid crosses, Mendel deduced that an organism has two alleles, a copy of a gene, for each inherited characteristic. One allele comes from each parent.

All P

All p

F1 generation

All Pp

1

/2 P

1

/2 p

Eggs p

P PP Pp pp

P p Pp

F2 generation

Mendel’s Experiments…
Gametes Some terms necessary to describe Mendel’s results: – gamete Gametes – allele – homozygous – heterozygous – dominant allele Genotypic ratio – recessive allele 1 PP : 2 Pp : 1 pp – 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

We now know the genetic basis of alleles.
– A gamete (a sperm or egg) carries only one allele of a gene. – Each allele is on one of two paired chromsomes. – The pairs of alleles separate when gametes form during meiosis.

GENETIC MAKEUP (ALLELES) PP pp

All P

Gametes

All p

All Pp

1

/2 P

Gametes

1

/2 p

Eggs p

P PP Pp pp

P

Sperm p

Pp

Figure 9.3B

We now know the genetic basis of alleles.
After meiosis, each cell ends up with one of each homologous autosome pair and either one X or one Y sex chromosome.

We now know the genetic basis of alleles.

The Steps of Meiosis

Four gametes produced.

We now know the genetic basis of alleles.
• First, remember that a chromosome is just a large piece of DNA. • DNA has genes, which code for proteins. • A gene is located along the DNA at a locus. • You can have different forms of genes. These different forms are called alleles. • Your two homologous chromosome may have different alleles.

Homologous chromosome pair

We now know the genetic basis of alleles.
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

We now know the genetic basis of alleles.
• In humans, depending on what alleles your mate passes on, your children can have several combinations of alleles.
From Mom… X X X X From Dad… Their Child…

We now know the genetic basis of alleles.
• The same happens in pea plants.
From F1… X X X X From F1… F2 offspring

A

B

C

D

?

Which of the following statements is true? A. Alleles are located at a particle locus on a chromosome. B. Chromosomes are located at a particle locus on an allele. C. Each parent donates two alleles at a particular locus. D. Only one parent donates alleles at a particular locus.

So far, following one trait, we have found that…
FLOWER COLOR Purple White

• • • •

Alternate forms of genes are known as alleles. For each inherited characteristic, an organism has two alleles of a gene, one from each parent. These alleles may be the same from each parent or they may be different. A sperm or egg carries only one allele for each gene, because allele pairs separate from each other during meiosis. 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.

Mendel also followed two traits at once.
SEED COLOR SEED SHAPE Yellow Green

Round

Wrinkled

• Dihybrid crosses are crosses in which the parents differ in two genes. • 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.

Principle of Independent Assortment
RRYY rryy 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

Principle of Independent Assortment
Independent assortment of two genes in the Labrador retriever
Blind Blind

PHENOTYPES GENOTYPES

Black coat, normal vision B_N_

Black coat, blind (PRA) B_nn BbNn 3 black coat, blind (PRA)

Chocolate coat, normal vision bbN_ BbNn 3 chocolate coat, normal vision

Chocolate coat, blind (PRA) bbnn

MATING OF HETEROZYOTES (black, normal vision) PHENOTYPIC RATIO OF OFFSPRING 9 black coat, normal vision

1 chocolate coat, blind (PRA)

Figure 9.5B

Principle of Independent Assortment

After meiosis, each cell ends up with one of each homologous autosome pair and which homologues end up together are random.

Principle of Independent Assortment

After meiosis, each cell ends up with one of each homologous autosome pair and which homologues end up together are random.

A

B

C

D

?

Mendel’s two principles are… A. The principle of independent assortment and the principle of segregation. B. The principle of independent assortment and the principle of inheritance. C. The principle of inheritance and the principle of segregation.
How do they differ?

How this all relates to humans.
• The inheritance of many human traits follows Mendel’s principles. • Many common human traits have a dominant and a recessive allele.

Figure 9.8A

How this all relates to humans.
• Many inherited disorders in humans are controlled by a single gene • Most such disorders are caused by autosomal recessive alleles. • Examples: cystic fibrosis, sickle-cell disease
PARENTS Normal Dd Normal Dd

D Eggs d OFFSPRING Dd Normal (carrier) DD Normal

D Sperm d Dd Normal (carrier)

dd Deaf

People who have only one copy of the allele for a recessive disorder and do not exhibit symptoms of the disorder are called “carriers”.

Figure 9.9A

How this all relates to humans.
• There are autosomal dominant disorders. • One example is Achondroplasia, a form of dwarfism in which the head and torso of the body develop normally, but the arms and legs are short. People with this disorder are heterozygous, because embryos that are homozygous die before birth.

David Rappaport - actor

How this all relates to humans.

Table 9.9

How this all relates to humans.
Because Mendel’s principles apply to humans, family pedigrees can be used to determine patterns of inheritance and individual genotypes.
Dd Joshua Lambert Dd Abigail Linnell D_? John Eddy D_? Hepzibah Daggett

D_? Abigail Lambert

dd Jonathan Lambert

Dd Elizabeth Eddy

Dd

Dd

dd

Dd

Dd

Dd

dd

Female Male Figure 9.8B

Deaf Hearing

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

Evolution and Natural Selection

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 and Natural Selection

Evolution is a change in the frequency of a characteristic within a population over time. Natural Selection is one mechanism that causes evolutionary change.

(1) Population with varied inherited traits

(2) Elimination of individuals with certain traits

Figure 1.6B

(3) Reproduction of survivors

Evolution and Natural Selection

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. Parents pass on DNA, the genetic material of life. This DNA is passed on according to Mendel’s laws.

Evolution and Natural Selection

Evolution explains the unity and diversity of life.
• Charles Darwin died in 1882. • Mendel conducted his experiments in • The experiment showing that DNA is genetic material of life was not conducted until 1952.