Ch.

14: Mendel and the Gene Idea

What genetic principles account for the passing of traits from parents to offspring?
The blending hypothesis is the idea that genetic material from the two parents blends together
Like blue and yellow paint blend to make green

The particulate hypothesis is the idea that parents pass on discrete heritable units (genes)
This hypothesis can explain the reappearance of traits after several generations

Mendel documented a particulate mechanism through his experiments with garden peas
Mendel discovered the basic principles of heredity by breeding garden peas in carefully planned experiments
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Mendels Experimental, Quantitative Approach

Advantages of pea plants for genetic study There are many varieties with distinct heritable features, or characters (such as flower color); character variants (such as purple or white flowers) are called traits Mating can be controlled Each flower has sperm-producing organs (stamens) and an egg-producing organ (carpel) Cross-pollination (fertilization between different plants) involves dusting one plant with pollen from another He also used varieties that were true-breeding (plants that produce offspring of the same variety when they self-pollinate)
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Concept 14.1: Mendel used the scientific approach to identify two laws of inheritance
In a typical experiment, Mendel mated 2 contrasting, true-breeding varieties, a process called hybridization The parents are the P generation The hybrid offspring of P generation are called F1 generation When F1 individuals selfpollinate or cross- pollinate with other F1 hybrids, the F2 generation is produced
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The Law of Segregation

When Mendel crossed true-breeding whiteand purple-flowered pea plants, all of the F1 hybrids were purple When Mendel crossed the F1 hybrids, many of the F2 plants had purple flowers, but some had white Mendel discovered a ratio of about 3:1, purple to white flowers, in the F2 generation
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 Mendel reasoned that only the purple flower factor was affecting flower color in the F1 hybrids He called the purple flower color a dominant trait; white flower color a recessive trait The factor for white flowers was not diluted or destroyed because it reappeared in the F2 generation He observed the same pattern of inheritance in 6 other pea plant characters, each represented by 2 traits What he called a heritable factor is what we call a gene
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Mendels Model
Mendel developed a hypothesis to explain the 3:1 inheritance pattern he observed in F2 offspring Four related concepts make up this model First: alternative versions of genes account for variations in inherited characters
Ex. gene for flower color in pea plants exists in two versions, one for purple flowers and the other for white flowers

These alternative versions of a gene are now called alleles

Alleles are simply variations in a genes nucleotide sequence

Each gene resides at a specific locus on a specific chromosome

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 Second: for each character, an organism inherits two alleles, one from each parent
Mendel made this deduction without knowing about the role of chromosomes The two alleles at a particular locus may be identical, as in the true-breeding plants of Mendels P generation Alternatively, the two alleles at a locus may differ, as in the F1 hybrids

Third: if the two alleles at a locus differ, then one (the dominant allele) determines the organisms appearance, and the other (the recessive allele) has no noticeable effect on appearance
In the flower-color example, the F1 plants had purple flowers because the allele for that trait is dominant

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Fourth (now known as the law of segregation): the two alleles for a heritable character separate (segregate) during gamete formation and end up in different gametes
Thus, an egg or a sperm gets only one of the two alleles that are present in the organism. This segregation of alleles corresponds to the distribution of homologous chromosomes to different gametes in meiosis. Mendels segregation model accounts for the 3:1 ratio he observed in the F2 generation of his numerous crosses.
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Useful Genetic Vocabulary

An organism with 2 identical alleles for a character is said to be homozygous for the gene controlling that character An organism that has 2 different alleles for a gene is said to be heterozygous for the gene controlling that character Because of different effects of dominant & recessive alleles, an organisms traits do not always reveal its genetic composition
We distinguish between an organisms phenotype, or physical appearance, and its genotype, or genetic makeup
In flower color in pea plants, PP and Pp plants have the same phenotype (purple) but different genotypes

The possible combinations of sperm and egg can be shown using a Punnett square, a diagram for predicting the results of a genetic cross between individuals of known genetic makeup
A capital letter represents a dominant allele, and a lowercase letter represents a recessive allele
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Figure 14.6

Phenotype

Genotype PP (homozygous)

Purple

Purple

Pp (heterozygous) 2

Purple

Pp (heterozygous)

White

pp (homozygous)

Ratio 3:1

Ratio 1:2:1

The Law of Independent Assortment

The F1 offspring produced in this cross were monohybrids, individuals that are heterozygous for one character A cross between such heterozygotes is called a monohybrid cross

Mendel identified his 2nd law of inheritance Crossing 2 true-breeding parents differing in 2 characters = dihybrids in F1 generation, heterozygous for both characters
A dihybrid cross, a cross between F1 dihybrids, can determine whether 2 characters are transmitted to offspring as a package or independently. With this, Mendel developed the law of independent assortment:
It states that each pair of alleles segregates independently of each other pair of alleles during gamete formation. It applies only to genes on different, nonhomologous chromosomes or those far apart on the same chromosome. Genes located near each other on the same chromosome tend to be inherited together.
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Figure 14.8 EXPERIMENT P Generation YYRR yr yyrr

Gametes YR F1 Generation

YyRr Hypothesis of dependent assortment or Hypothesis of independent assortment Sperm

1/ 4

Predictions

Predicted offspring of F2 generation

Sperm
1/ 2

YR

1/

Yr

1/

yR

1/

yr

YR

1/

yr
1/ 4

YR

YYRR

YYRr

YyRR

YyRr

1/

YR

YYRR

YyRr

Eggs
1/ 2

1/

Yr

yr

Eggs YyRr
3/ 4 1/ 4 1/ 4

YYRr

YYrr

YyRr

Yyrr

yyrr

1/

yR
YyRR yr YyRr
9/ 16 3/ 16

YyRr

yyRR

yyRr

Phenotypic ratio 3:1

Yyrr
3/ 16

yyRr
1/

yyrr
16

Phenotypic ratio 9:3:3:1

RESULTS

315

108

101

32

Phenotypic ratio approximately 9:3:3:1

Concept 14.2: Laws of probability govern Mendelian inheritance

Alleles of 1 gene segregate into gametes independently of another genes alleles. Multiplication rule states that probability that 2 or more independent events will occur together is the product of their individual probabilities. Probability in an F1 monohybrid cross can be determined using the multiplication rule. Segregation in a heterozygous plant is like flipping a coin: Each gamete has a 50/50 chance of carrying the dominant allele and a 50/50 chance of carrying the recessive allele.
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Solving Genetics Problems with Rules of Probability

The addition rule states that the probability that any one of two or more exclusive events will occur is calculated by adding together their individual probabilities
Used to figure out the probability that an F2 plant from a monohybrid cross will be heterozygous rather than homozygous

We can apply the multiplication and addition rules to predict the outcome of crosses involving multiple characters
A dihybrid or other multicharacter cross is equivalent to two or more independent monohybrid crosses occurring simultaneously In calculating chances for various genotypes, each character is considered separately & then individual probabilities are multiplied

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Concept 14.3: Inheritance patterns are often more complex than predicted by simple Mendelian genetics
Many heritable characters are not determined by only one gene with two alleles However, the basic principles of segregation and independent assortment apply even to more complex patterns of inheritance Inheritance of characters by a single gene may deviate from simple Mendelian patterns in the following situations: When alleles are not completely dominant or recessive When a gene has more than two alleles When a gene produces multiple phenotypes A dominant allele does not subdue a recessive allele
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Figure 14.UN03

Relationship among alleles of a single gene Complete dominance of one allele

Description
Heterozygous phenotype same as that of homozygous dominant PP

Example Pp

Incomplete dominance Heterozygous phenotype intermediate between of either allele the two homozygous phenotypes Codominance Both phenotypes expressed in heterozygotes

CRCR CRCW CWCW IAIB

Multiple alleles

In the whole population, ABO blood group alleles some genes have more IA, IB, i than two alleles One gene is able to affect Sickle-cell disease multiple phenotypic characters

Pleiotropy

Figure 14.UN04

Relationship among two or more genes Epistasis

Description The phenotypic expression of one gene affects that of another

Example BbEe
BE BE bE Be be bE Be

BbEe
be

9 Polygenic inheritance A single phenotypic character is affected by two or more genes AaBbCc

:3

:4 AaBbCc

Degrees of Dominance This figure shows incomplete dominance, the phenotype of F1 hybrids is somewhere between the phenotypes of the two parental varieties
Complete dominance occurs when phenotypes of the heterozygote and dominant homozygote are identical In codominance, two dominant alleles affect the phenotype in separate, distinguishable ways

Multiple Alleles --- Many genes exist in more than 2 allelic forms
Ex. 4 phenotypes of human ABO blood group determined by 3 alleles for the enzyme (I) that attaches A or B carbohydrates to red blood cells: IA, IB, and i. Enzyme encoded by IA allele adds A carbohydrate; enzyme encoded by IB allele adds B carbohydrate; enzyme encoded by i allele adds neither

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Epistasis

In epistasis, a gene at 1 locus alters phenotypic expression of a gene at a 2nd locus Labrador retrievers & many other mammals, coat color depends on 2 genes 1 gene determines pigment color (with alleles B for black & b for brown) The other gene (with alleles C for color & c for no color) determines whether pigment will be deposited in the hair
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Polygenic Inheritance
Quantitative characters are those that vary in the population along a continuum Quantitative variation usually indicates polygenic inheritance, an additive effect of 2 or more genes on a single phenotype Skin color in humans is polygenic inheritance
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Pleiotropy
Most genes have multiple phenotypic effects, a property called pleiotropy Pleiotropic alleles are responsible for multiple symptoms of certain hereditary diseases (cystic fibrosis, sickle-cell disease) Cystic fibrosis is the most common lethal genetic disease in the USA, striking 1 out of every 2,500 people of European descent The cystic fibrosis allele results in defective or absent chloride transport channels in plasma membranes leading to a buildup of chloride ions outside the cell Symptoms include mucus buildup in some internal organs and abnormal absorption of nutrients in the small intestine
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Sickle-Cell Disease: A Genetic Disorder with Evolutionary Implications

Sickle-cell disease affects 1 out of 400 African-Americans
The disease is caused by substitution of a single amino acid in the hemoglobin protein in red blood cells
Symptoms include physical weakness, pain, organ damage & paralysis

In homozygotes, all hemoglobin is abnormal (sickle-cell) Heterozygotes (said to have sickle-cell trait) are usually healthy but may suffer some symptoms
Heterozygotes are less susceptible to the malaria parasite, so there is an advantage to being heterozygous

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