Biology for Majors II

(BIOL 1307)
Dr. Lisa Farmer
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Overview: Drawing from the Deck of Genes

§ What genetic principles account for the

passing of traits from parents to offspring?
§ “Blending” hypothesis: genetic material
from the two parents blends together (like
blue and yellow paint blend to make green)
§ “Particulate” hypothesis: parents pass on
discrete heritable units (the gene idea)
§ Mendel documented a particulate
mechanism through his experiments with
garden peas 1822-1884

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 Mendel used the scientific approach to identify
two laws of inheritance

§ Mendel discovered the basic principles of heredity by

breeding garden peas in carefully planned experiments
§ Mendel probably chose to work with peas because
1. 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
2. He could control mating
between plants (be sure
of the parentage)

Pollen

Pollen + Egg à Seed Egg

Mendel used the scientific approach to identify

two laws of inheritance

§ Mendel chose to track only characters that occurred

in two distinct alternative forms (purple or white)
§ He also used varieties that were true-breeding
(plants that produce offspring of the same variety
when self-pollinated)

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 Mendel’s Experimental Approach
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§ Mendel mated two contrasting,

true-breeding varieties, a process
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called hybridization
§ The true-breeding parents are the
Parental
P generation generation
§ The hybrid offspring of the P (P) 3
Stamens
generation are called the F1 Carpel
generation
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§ When F1 individuals self-pollinate
or cross-pollinate with other F1
hybrids, the F2 generation is
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produced
First filial
generation
offspring
(F1)

P Generation
(true-breeding
parents) Purple flowers White flowers

F1 Generation
(hybrids)

F2 Generation

705 purple-flowered 224 white-flowered

plants plants

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 Mendel’s Results

§ When Mendel crossed contrasting, true-breeding

white- and 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 to 1 purple
to white flowers, in the F2 generation

Mendel’s Interpretation of the Results

§ Mendel reasoned that in the F1 plants, the heritable

factor for white flowers was hidden or masked in the
presence of the purple-flower factor
§ He called the purple flower color a dominant trait and
the white flower color a recessive trait
§ The factor for white flowers was not diluted or
destroyed because it reappeared in the F2 generation

Dominant Recessive

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 Mendel’s Observations

§ Mendel observed the same

pattern of inheritance in six
other pea plant characters,
each represented by two traits
§ He always saw ~3:1 ratios of
dominant to recessive in the F2
plants
§ What Mendel called a
“heritable factor” is what we
now call a gene

Mendel’s Model to Explain his Observations

§ Mendel developed a model to explain the 3:1 inheritance

pattern he observed in F2 offspring
§ Four related concepts make up this model:
1. Alternative versions of genes account for variations in
inherited characters (we call them alleles)

Pair of
Locus for flower-color gene homologous
chromosomes

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 Mendel’s Model to Explain his Observations

2. For each character; an organism inherits two copies (two

alleles) of a gene, one from each parent
§ Mendel made this observation without knowing about
chromosomes or that organisms are diploid (2n)
§ Two genes at a locus may be identical (true-breeding) or
different alleles (F1 hybrids)

Allele for purple flowers

Parent 1
Locus for flower-color gene

Parent 2
Allele for white flowers

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Mendel’s Model to Explain his Observations

3. If the two alleles at a locus differ, then the dominant allele

determines the organism’s appearance; the recessive allele
has no noticeable effect on the organism’s appearance
§ F1 hybrids are purple in color because the allele for that trait is
dominant

Dominant (purple flowers)

F1 hybrid

Recessive (white flowers)

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 The Law of Segregation

4. The two alleles for a heritable character separate

(segregate) during gamete formation and end up
in different gametes
§ Why is he talking about gametes all
of a sudden?

§ 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

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The Law of Segregation

§ Mendel’s segregation model accounts for the 3:1 ratio he

observed in the F2 generation of his numerous crosses
§ 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 P
allele; P is for purple-flower
§ A lowercase letter represents a
recessive allele; p is for white-flower p

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 P Generation

Appearance: Purple flowers White flowers

Genetic makeup: PP pp

Gametes: P p

F1 Generation

Appearance: Purple flowers

Genetic makeup: Pp
Gametes: ½ P ½ p

Male F2 Generation P p
(Pollen,
Sperm) P
PP Pp

Female p
Pp pp
(Egg)
3 :1

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Essential Genetic Vocabulary

§ An organism with two identical alleles PP

for a character is said to be
homozygous for the gene controlling pp
that character
§ An organism that has two different
alleles for a gene is said to be
heterozygous for the gene controlling Pp
that character
§ Unlike homozygotes, heterozygotes
are not true-breeding

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 Genotype versus Phenotype

§ Because of the effects of dominant and recessive

alleles, an organism’s traits do not always reveal its
genetic composition
§ Therefore, we distinguish between an organism’s
genotype (genetic makeup) and phenotype (or
physical appearance)
§ In the example of flower color in pea plants, PP and
Pp plants have the same phenotype (purple) but
different genotypes

PP Pp

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Phenotype Genotype

Purple PP 1
(homozygous)
F2 Progeny

3 Purple Pp
(heterozygous)
2

Purple Pp
(heterozygous)

White pp
1 1
(homozygous)

Ratio 3:1 Ratio 1:2:1

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 The Testcross: Working Backwards

§ How can we tell the genotype

of an individual with the PP or Pp
dominant phenotype?
§ Such an individual could be either homozygous
dominant or heterozygous
§ Carry out a testcross: breed
the mystery individual with a ?? X pp
homozygous recessive individual
§ If any offspring display the recessive phenotype, the
mystery parent must be heterozygous

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Technique
Dominant phenotype, Recessive phenotype,
unknown genotype: known genotype:
PP or Pp? pp

If purple-flowered or If purple-flowered
parent is PP parent is Pp

Predictions p p p p

P P
Pp Pp Pp Pp

P p
Pp Pp pp pp

Results or
All offspring purple ½ offspring purple and
½ offspring white

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 Mendel’s Second Law: Independent Assortment

§ Mendel derived the law of segregation by monohybrid cross:

following a single character
§ The F1 offspring produced in this cross P p
were monohybrids, individuals that are
heterozygous for one character P
§ Mendel identified his second law of PP Pp

inheritance by following two characters

p
at the same time Pp pp
§ Crossing two true-breeding parents
differing in two characters produces 3 :1
dihybrids in the F1 generation,
heterozygous for both characters
§ Dihybrid cross: a cross between F1 dihybrids, can determine
whether two characters are transmitted to offspring as a package
or independently

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The Law of Independent Assortment

YYRR yyrr
P

Gametes YR yr
Dominant:
• Yellow
• Round
F1 YyRr
Recessive:
• Green
• Shriveled

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 P YYRR yyrr

Experiment Gametes YR yr

F1 YyRr

Are Y/R and y/r

Hypothesis of Hypothesis of
always dependent assortment independent assortment
inherited together?
or Sperm

Predictions Sperm ¼ YR ¼ Yr ¼ yR ¼ yr
½ YR ½ yr
F2 ¼ YR
YYRR YYRr YyRR YyRr
½ YR
YYRR YyRr
Eggs ¼ Yr
YYRr YYrr YyRr Yyrr
Eggs
½ yr
YyRr yyrr
¼ yR
YyRR YyRr yyRR yyRr
Results ¾ ¼
¼ yr
Phenotypic ratio 3:1 YyRr Yyrr yyRr yyrr
9 16 3 16 3 16 1 16

Phenotypic ratio 9:3:3:1

315 108 101 32 Phenotypic ratio approximately 9:3:3:1

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P YYRR yyrr

Experiment Gametes YR yr
Are Y, R, y and r
inherited independently
F1 YyRr of each other?

Hypothesis of Hypothesis of
dependent assortment independent assortment
or Sperm

Predictions Sperm ¼ YR ¼ Yr ¼ yR ¼ yr
½ YR ½ yr
F2 ¼ YR
YYRR YYRr YyRR YyRr
½ YR
YYRR YyRr
Eggs ¼ Yr
YYRr YYrr YyRr Yyrr
Eggs
½ yr
YyRr yyrr
¼ yR
YyRR YyRr yyRR yyRr
Results ¾ ¼
¼ yr
Phenotypic ratio 3:1 YyRr Yyrr yyRr yyrr
9 16 3 16 3 16 1 16

Phenotypic ratio 9:3:3:1

315 108 101 32 Phenotypic ratio approximately 9:3:3:1

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 The Law of Independent Assortment

§ Mendel’s dihybrid experiments were

the basis
§ It states that each pair of alleles (Yy
vs Rr) segregates independently of
each other pair of alleles during
gamete formation
§ This law applies to genes on
different, non-homologous
chromosomes or those far apart on
the same chromosome
§ Genes located near each other on
the same chromosome tend to be
inherited together (linkage)
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The Easy Way to Calculate Number of Gametes

• Every genetic locus is present on 2 chromosomes

(alleles)

• You are considering a number (n) of different genetic

loci independently assorting at the same time

• The number of possible gametes then = 2n

• In a “trihybrid” cross, you are considering n = 3
different genetic loci, so the number of possible
gamete combinations is 23 = 8

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 Calculating the size of a Punnett Square

8 different
female gametes

8 different male
gametes

= 64 different
squares!

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