Mendels Principles of Heredity

Chapter 2

The Units of Inheritance

Gene a region of DNA that encodes a specific protein or a particular type of RNA First described by Mendel in 1866
Mendel hypothesized that observable traits are determined by independent units of inheritance (genes) not visible by the naked eye

Four General Themes of Mendel's Work

1. Variation is widespread in nature and provides for continuously evolving diversity 2. Observable variation is essential for following genes from one generation to the next 3. Variation is inherited by genetic laws (not chance), which can explain why like begets like and unlike 4. Mendel's laws apply to all sexually reproducing organisms (from protozoans to peas to humans!)

The Historical Puzzle of Inheritance

Artificial selection was the first applied genetic technique
Purposeful control of mating by choice of parents for the next generation

Domestication of plants and animals was a key transition in human civilization

Domestication of dogs from wolves Domestication of rice, wheat, barley, and lentils from weed like plants

Two Theories of Inheritance at the Time of Mendel's Studies

1. Inherited features of offspring are contributed mainly by only one parent (e.g., a "homunculus" inside the sperm) 2. Parental traits become mixed and changed in the offspring (i.e., "blended inheritance") Neither theory could explain why some traits would appear, disappear, and then reappear

Three Basic Questions Mendel Wanted to Answer Regarding Selective Breeding

What is inherited? How is it inherited? What is the role of chance in heredity?

Keys to Mendels Experiments

1. The garden pea was an ideal organism
Vigorous growth Self-fertilization Easy to cross-fertilize Produced large number of offspring each generation

2. Mendel analyzed traits with discrete alternative forms (antagonistic pairs)

Purple vs. white flowers Yellow vs. green peas Round vs. wrinkled seeds

3. Mendel established pure breeding lines to conduct his experiments

Keys to Mendels Experiments (cont.)

4. Mendel carefully controlled his matings
He performed reciprocal crosses (reversing male and female traits)
Demonstrated that parents contribute EQUALLY to inheritance

5. Mendel worked with large numbers of offspring, counted all offspring, subjected his findings to numerical analysis, and compared his results with his predictions 6. Mendel was a practical experimentalist
He focused on one trait (variable) at a time He controlled his experiments carefully
Considered sunlight exposure and watering

Types of Plant Crosses

Self-fertilization Cross-fertilization

Doesnt matter which traits are associated with the egg and which are associated with the sperm

Pea Plant Characters

Important Definitions
Pure-breeding Lines Organisms that produce offspring with specific parental traits that remain constant from generation to generation
Self-fertilization of pure-breeding lines ALWAYS results in offspring exactly like the parent

Hybrids Offspring of genetically dissimilar parents

Other Important Definitions

Parental (P) Generation individuals whose progeny (in subsequent generations) will be studied for specific traits First Filial (F1) Generation progeny resulting from the controlled cross of individuals from the parental generation Second Filial (F2) Generation progeny resulting from the controlled self-cross or intercross of individuals from the F1 generation

Example of a Monohybrid Cross

Green trait didnt disappear it was simply hidden

Mendels Hypothesis Based on Monohybrid Crosses

Traits have two forms that can each breed true (e.g., seed shape could be either round or wrinkled)
Progeny inherit one unit from the maternal parent and the other unit from the paternal parent
Units of inheritance are now known as "genes
Therefore, each organism has two genes for each trait

Alternative forms of a single gene are "alleles

For the seed shape gene, there is a round allele (designated R) and a wrinkled allele (designated r)

Important Information Learned from Monohybrid Crosses

Mendel called the version of the trait that appeared in all of the F1 hybrids dominant The version of the trait that remained hidden in the F1 hybrids (the other version in the antagonistic pair) was called recessive
This version of the trait re-appears in the F2 generation Why did the F2 generation progeny always have dominant:recessive ratio of 3:1?

How Can Two Different Versions of a Gene Give Rise to Two Different Appearances?
Gene Dominant allele R Biochemical Change of Unbranched Starch Molecules Active enzyme Conversion Unbranched starch Recessive allele r Inactive enzyme No conversion Branched starch Round pea Pea Shape

X
Unbranched starch Wrinkled pea

Unbranched starch

Mendels Law of Segregation

Part 1
If a plant has two copies of every gene, how does it pass only one copy to its progeny? The two alleles for each trait separate (segregate) during gamete formation (i.e., meiosis).

Each gamete has only ONE allele for each trait!

Mendels Law of Segregation

Part 2
How does an offspring end up with two copies of the same gene, one from each parent?

Mendels Law of Segregation

The two alleles for each trait separate (segregate) during gamete formation, and then unite at random, one from each parent, at fertilization.

The Punnett Square

A Monohybrid Cross
Gene symbols are italicized Dominant alleles are CAPITALIZED Recessive alleles are lowercase

Still Other Important Definitions

Phenotype the observable expression of an organisms genes Genotype pair of alleles present in an individual Homozygous two alleles of trait are the same (YY or yy) Heterozygous two alleles of trait are different (Yy)

Genotypes vs Phenotpyes
Yy Yy

1:2:1 YY:Yy:yy 3:1 yellow: green

Laws of Probability
Product Rule the probability of two or more independent events occurring TOGETHER is the PRODUCT of the probabilities of each individual event
Probability of Event #1 AND Event #2 = Probability of Event #1 X Probability of Event #2

Sum Rule the probability EITHER of two mutually exclusive events occurring is the SUM of the probabilities of each individual event
Probability of Event #1 OR Event #2 = Probability of Event #1 + Probability of Event #2

Example of the Product Rule of Probability

What is the probability of the cross Rr X rr producing an offspring with the genotype Rr?
The only way an Rr offspring can be produced is if 1. Parent 1 donates an R gamete and 2. Parent 2 donates an r gamete

Example of the Product Rule of Probability (cont.)

Since Parent 1 is a heterozygote, he/she can make two different types of gametes (an R gamete or an r gamete).
Therefore, the probability of him/her making an R gamete is

Since Parent 2 is a homozygote, he/she can make only one type of gamete (an r gamete)
Therefore, the probability of him/her making an r gamete is 1

Example of the Product Rule of Probability (cont.)

Since the only way an Rr offspring can be produced is to have Parent 1 donate an R gamete and Parent 2 donate an r gamete, the probability of BOTH things occurring together is the product of their probabilities
Probability of Rr = Probability of R gamete from Parent 1 X Probability of r gamete from Parent 2 1

= =

Example of the Sum Rule of Probability

What is the probability of the cross RR X Rr producing a ROUND offspring?
The offspring can be round by having the genotype 1. RR or 2. Rr

Example of the Sum Rule of Probability (cont.)

The only way an RR offspring can be produced is if 1. Parent 1 donates an R gamete and 2. Parent 2 donates an R gamete The only way an Rr offspring can be produced is if 1. Parent 1 donates an R gamete and 2. Parent 2 donates an r gamete

Example of the Sum Rule of Probability (cont.)

Lets consider the RR offspring first Since Parent 1 is a homozygote, he/she can make only one type of gametes (an R gamete).
Therefore, the probability of him/her making an R gamete is 1

Since Parent 2 is a heterozygote, he/she can make two different types of gametes (an R gamete or an r gamete)
Therefore, the probability of him/her making an R gamete is

Example of the Sum Rule of Probability (cont.)

Since the only way an RR offspring can be produced is to have Parent 1 donate an R gamete and Parent 2 donate an R gamete, the probability of BOTH things occurring together is the product of their probabilities
Probability of RR = Probability of R gamete from Parent 1 1 X Probability of R gamete from Parent 2

= =

Example of the Sum Rule of Probability (cont.)

Now, lets consider the Rr offspring Since Parent 1 is a homozygote, he/she can make only one type of gametes (an R gamete).
Therefore, the probability of him/her making an R gamete is 1

Since Parent 2 is a heterozygote, he/she can make two different types of gametes (an R gamete or an r gamete)
Therefore, the probability of him/her making an r gamete is

Example of the Sum Rule of Probability (cont.)

Since the only way an Rr offspring can be produced is to have Parent 1 donate an R gamete and Parent 2 donate an r gamete, the probability of BOTH things occurring together is the product of their probabilities
Probability of Rr = Probability of R gamete from Parent 1 1 X Probability of r gamete from Parent 2

= =

Example of the Sum Rule of Probability (cont.)

Since a round offspring can have either the genotype RR OR Rr, the probability of producing a round offspring is the sum of the probability of producing an RR and an Rr offspring.
Probability of R = Probability of an RR offpsring + Probability of an Rr offspring

In other words, a RR X Rr cross will ALWAYS produce round offspring!

Genotype/Phenotype Relationship
If you know the genotype of an organism and the dominance relationship of the alleles, you can accurately predict the phenotype of the organism. However, if an organism has a dominant phenotype, you cannot be certain of that organisms genotype
Poses a problem for selective breeders!

Problem for Selective Breeders: How Can You Determine the Genotype of a Dominantly Phenotyped Organism? The genotype of a dominantly phenotyped organism could be either homozygous (or true-breeding) or heterozygous (or NOT true-breeding) How could a breeder be certain that his/her dominantly phenotyped organism was a true-breeder? ANSWER: Perform a testcross

Testcross
A mating in which an individual showing a dominant phenotype is crossed with an individual expressing the recessive phenotype
The organism whos genotype is in question MUST have a dominant phenotype
Must be a dominant homozygote or a heterozygote

The other organism MUST have a recessive phenotype

Must be a recessive homozygote

Example Testcross
You have a yellow plant.
The plants genotype could be either YY or Yy

Cross that plant with a green plant (yy)

Examination of the offspring will tell the genotype of the yellow plant

Testcross Reveals Unkown Genotype

Yellow plant is either YY or Yy

If the unknown parent is YY

If the unknown parent is Yy

Therefore, if ANY progeny have a recessive phenotype (e.g., green), then the parent MUST have been Yy!

After describing the Law of Segregation as it applies to the inheritance of single traits, Mendel next turned to examining the simultaneous inheritance of two (or more) apparently unrelated traits using DIHYBRID CROSSES

Dihybrid Crosses
Dihybrid - an individual that is heterozygous at two distinct genes Mendel designed experiments to determine if two genes segregate independently of one another in dihybrids First constructed true breeding lines for both traits, crossed them to produce dihybrid offspring, and examined the F2 progeny for parental or recombinant types (new combinations not present in the parents)

Dihybrid Crosses Show Both Parental And Recombinant Types

Parental types yellow round green wrinkled Recombinant types yellow wrinkled green round

Dihybrid Cross Produces A Predictable Ratio Of Phenotypes

The Law of Independent Assortment

The detection of recombinant progeny in a dihybrid cross provides evidence that the alleles for the different genes can shuffle
Creates new combinations of alleles

This is the basis of Mendels Second Law - The Law of Independent Assortment

The Law Of Independent Assortment

During gamete formation different pairs of alleles segregate independently of each other
Y is just as likely to assort with R as it is with r y is just as likely to assort with R as it is with r

Testcrosses with Dihybrids

The organism to be tested MUST by dominantly phenotyped for BOTH traits and is crossed with an organism that is homozygous recessive for BOTH traits For example: Yellow Round X green wrinkled
YYRR YYRr YyRR YyRr
yyrr

Testcrosses with Dihybrids

Cross A Cross B yy rr

P
F1

YY RR

P
F1

YY Rr

yy rr

yr YR Yy Rr

yr YR Yr

Yy Rr Yy rr

Cross C P F1 Yy RR yy rr

Cross D P F1 Yy Rr Yy rr

Yr YR yR yy Rr

yr YR Yr yR yr

Yy Rr

Yy Rr Yy rr yy Rr yy rr

If the recessive phenotype shows up in the progeny of the test cross, then the parent in question MUST have been a heterozygote for that trait!

Laws of Probability for Multiple Genes

P gametes RRYYTTSS X rryyttss RYTS ryts

F1
gametes

RrYyTtSs
RYtS RytS rYts rYts RYts Ryts rYTS ryts

X RrYyTtSs
RYTS RYTs RyTS rYTS ryTs RyTs rYTs rYtS RYtS RytS rYts rYts RYts Ryts rYTS ryts

RYTS RYTs RyTS rYTS ryTs RyTs rYTs rYtS

F2

What is the ratio of different genotypes and phenotypes?

 Answer 1 (the hard way)

Punnet Square method:
24 = 16 possible gamete combinations for each F1 progeny Therefore, you will have to perform a 16 16 Punnet Square
Gives 256 genotypes!

Answer 2 (the easier way)

Look at each locus independently Calculate the probability of the genotype of interest for each trait (locus) Multiply the probabilities of the independent traits (loci)

P F1

RRYYTTSS rryyttss RrYyTtSs RrYyTtSs

What is the probability of obtaining the genotype RrYyTtss?

Rr Rr 1RR:2Rr:1rr 2/4 Rr Yy X Yy 1YY:2Yy:1yy 2/4 Yy Tt Tt 1TT:2Tt:1tt 2/4 Tt Ss Ss 1SS:2Ss:1ss 1/4 ss

Calculate the probability of obtaining individual with Rr AND Yy AND Tt AND ss (Remember: each of these events MUST occur together)
= 2/4 2/4 2/4 1/4 = 8/256 = 1/32

P
F1

RRYYTTSS rryyttss
RrYyTtSs RrYyTtSs

What is the probability of obtaining a completely homozygous genotype? (The genotype could be RRYYTTSS or rryyttss) Rr Rr Yy Yy Tt Tt Ss Ss

1RR:2Rr:1rr
1/4 RR 1/4 rr

1YY:2Yy:1yy
1/4 YY 1/4 yy

1TT:2Tt:1tt
1/4 TT 1/4 tt

1SS:2Ss:1ss
1/4 SS 1/4 ss

Calculate the probability of obtaining individual with RR AND YY AND TT AND SS OR an individual with rr AND yy AND tt AND ss (Remember: EITHER of these events could occur)

(1/4 1/4 1/4 1/4) + (1/4 1/4 1/4 1/4) = 2/256 = 1/128

Mendelian Inheritance In Humans

Most traits in humans are due to the interaction of multiple genes and do not show a simple Mendelian pattern of inheritance A few traits represent single-genes
Examples: sickle-cell anemia, cystic fibrosis, Tay-Sachs disease, and Huntingtons disease

Because we can not do breeding experiments on humans, we use model organisms

Pedigrees Are Used to Study Inheritance

Pedigrees are an orderly diagram of a familys relevant genetic features extending through multiple generations Pedigrees help us infer if a trait is from a single gene and if the trait is dominant or recessive

Pedigree Analysis

A Vertical Pattern of Inheritance Indicates a Rare Dominant Trait

Huntingtons disease: A rare dominant trait Assign the genotypes by working backward through the pedigree

Recognizing a Dominant Trait in a Pedigree

Affected children ALWAYS have at least one affected parent
See at least one affected person in each generation Shows a vertical pattern of inheritance

Two affected parents can have unaffected children (i.e., both parents are heterozygotes)

A Horizontal Pattern of Inheritance Indicates a Rare Recessive Trait

Cystic fibrosis: a recessive condition Assign the genotypes for each pedigree

Recognizing a Recessive Trait in a Pedigree

Affected individuals can be the children of two unaffected carriers (i.e., heterozygotes)
Especially if the carriers are related

All of the children of two affected parents should be affected Rare recessive traits show a horizontal pattern of inheritance
Trait first appears in several members of one generation and was not seen in earlier generations

Common recessive traits MAY show a horizontal pattern of inheritance