DIANNA KYLE A TAGALOG BSED - SCI

BIO 2242
GENETICS INTRODUCTION
 Definition
 Brief History
 Areas and Methods of Genetic Study
 Applications

DEFINITION
 Greek word “gen” – grow into something;
 coined by William Bateson (1906)
 Deals with principles of heredity and variation in all living organisms
 seeks to understand the molecular and physical bases of biological diversity, the
mechanisms resulting from these diversities, and the principles that govern their
heredity from one generation to another

BRIEF HISTORY
 Gregor Mendel (1822 – 1884)
• hereditary characteristics were determined by “elementary factors” that are
transmitted between generations in a uniform, predictable fashion
• Results on pea experiments published in 1866 but remained unappreciated until 1900*
* Hieracium sp. – apomictic (maternal inheritance)
OTHER IMPORTANT SCIENTISTS:
- Research on their important contributions to the field of Genetics
1. Carl Correns (Germany); Erick Von Tschermak (Austria); Hugo de Vries (Holland)
(1900)
- rediscoverers of Mendel

2. Bateson, Saunders and Cuenot (1902)

- Mendel’s principles applied to animals

3. Walter Sutton (USA) Theodor Boveri (Germany) (1903)

- Chromosome Theory of Inheritance

4. Thomas Hunt Morgan (1910) Calvin Bridges (1916)

- association between specific genes and specific chromosomes

5. Frederick Griffith (1928)

- Transformation experiment

6. Oswald T. Avery, Collin M. Macleod, and Maclyn McCarty - 1944

- Isolated and characterized Griffith’s “transforming substance”

7. Alfred Hershey and Martha Chase (1952)

- Blender experiment
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8. Researchers involved in the discovery of the structure of DNA
a. Rosalind Franklin
- Expert on x-ray diffraction techniques
b. Maurice Wilkins
- Boss of Rosalind Franklin
c. Francis Crick and James Watson
- Credited with the discovery of the structure of DNA by building DNA model
d. Linus Pauling
- laid intellectual framework for the double helix model of DNA
e. Erwin Chargaff
- Chargaff’s Rule
f. Jerry Donohue
- Keto structure of guanine

3 General Areas of Genetics:

1. Classical Genetics
 Concerned with the chromosomal theory of inheritance

2. Molecular Genetics
 Study of the genetic material: its structure, replication and expression, as well as the
information revolution emanating from the discovery of recombinant DNA techniques

3. Evolutionary Genetics
 Study of the mechanisms of evolutionary change, or changes in gene frequencies in
populations

Methods of Genetic Study:

1. Classical Genetics
a. Controlled breeding experiments
• Factors to consider in choice of test organism
i. kinds of variation
ii. Sexual reproduction or system of recombination
iii. Controlled mating
iv. Short generation time
v. Large number of offspring
vi. Convenience of caring

b. Pedigree analysis
 Single gene inheritance
 Disadvantages:
i. Based on subjective recall
ii. Accuracy of information difficult to test
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iii. Presence of illegitimate children may not be revealed

c. Statistical analyses
- Number of offspring is small or number of generations available is not sufficient
- Use statistical tests to predict probability of occurrence of traits in untried crosses (e.g.
x2 test)

d. Karyotyping
 Uses:
i. Determine the normal chromosome number of the species → establishment of new
species
ii. Detection of chromosomal aberrations
- option for “therapeutic abortion”
iii. Determine sex of the individual

e. Twin studies
- Concordance vs. discordance
- Genotype vs. environmental influence on phenotype

2. Molecular Genetics
 recombinant DNA technology → began with the discovery of restriction endonucleases
 foreign DNA in plasmids introduced in bacterium and replicated → determine base
sequence of foreign DNA
 can locate and study disease causing genes (e.g for cystic fibrosis, muscular dystrophy,
resistance genes)
- Somatic Cell Gene Therapy

3. Evolutionary Genetics
 Evolution → change in allelic frequencies in a population over time
 Electrophoresis and subsequent DNA sequencing → polymorphisms existing within
natural populations

Applications of Genetics
 Plant and Animal Improvement
 Medicine
 Genetic Counseling
 Legal Applications
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Mendelian Genetics
Definition of Terms:
• Character - a heritable feature that varies among individuals (e.g. flower color)
• Trait - each variant for a character (e.g. for flower color purple or white)
• True-breeding - when plants self-pollinate, all offspring are of the same kind
• Hybridization - mating or crossing of two varieties
• Monohybrid cross - cross that tracks or monitors the inheritance of a single character
or a pair of contrasting traits
• P or parental generation - true breeding parents
• F1 (first filial generation) - offspring of the cross of P1 and P2
• F2 (second filial generation) - offspring of self-pollinating F1 hybrids or cross pollinated
with similar F1 hybrids
• Homozygous/homozygote - organism having a pair of identical alleles at a given locus
on homologous chromosomes.
• P or parental generation - true breeding parents
• F1 (first filial generation) - offspring of the cross of P1 and P2
• F2 (second filial generation) - offspring of self-pollinating F1 hybrids or cross pollinated
with similar F1 hybrids
• Homozygous/homozygote - organism having a pair of identical alleles at a given locus
on homologous chromosomes.
• Heterozygous/heterozygote - organism having two different alleles at a given locus on
homologous chromosomes.
• Phenotype - the visible expression of information contained in the genes; the
organisms appearance
• Genotype - genetic composition of a cell or organism
• Genes - a nucleotide sequence coding for a polypeptide which may be an enzyme or
part of an enzyme, which in turn is responsible for a certain phenotype.
• Alleles - one of two or more alternative forms of a gene which are usually recognizable
by phenotypes

Characteristics of garden pea:

• Easy to grow and interbreed
• Self fertilizing due to perfect flowers but easy to cross breed in design experiments
• Grows to maturity in a single season
• Showed characters which had visible features that were represented by two contrasting
traits
• True breeding strains are available

The Monohybrid Cross

• Involves one pair of contrasting traits
• Done by mating individuals from two parents, each exhibiting contrasting forms of the
character under study
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• Character: Stem length

P1 tall X dwarf
F1 all tall
F2 ¾ tall ¼ dwarf
Phenotypic ratio 3 tall: 1 dwarf

Three Postulates:
1. Unit factors in pairs
• Genetic characters are controlled by unit factors that exist in pairs in individual
organisms
• Pair of unit factors → each comes from one parent/2 parents contribute one unit
factor
• For monohybrid cross involving stem length
3 possible combinations of unit factors:
2 unit factors for tall → TT
2 unit factors for dwarf → tt
One unit factor for each → Tt
2. Dominance/recessiveness
• When two unlike unit factors responsible for a single character are present in a single
individual, one unit factor is dominant to the other which is recessive
Dominant → unit factor that is fully expressed in the organism
Recessive → unit factor that has no noticeable effect on the organism
3. Law of Segregation
• During the formation of gametes, the paired unit factors segregate or separate
randomly so that each gamete receives one or the other
Individual gametes
TT all T
Tt either T or t
tt all t
• Each gamete has a 50% probability of receiving either of the unit factors
• Homozygous - alleles are the same; contains identical paired unit factors or alleles
• Heterozygous - contains different paired unit factors or alleles

Test Cross:
• Know the genotype → can determine the phenotype
• Phenotype - may change resulting from interaction of genotype and environment
• Genotype - remains constant
• Know phenotype → can genotype be determined?

The Dihybrid Cross:

• Cross involving two pairs of contrasting traits
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• Gene pairs are located in different homologous chromosomes and segregate
independently of each other during meiosis
• Could be considered as two monohybrid crosses occurring simultaneously
• Two sets of traits are inherited independently of each other

Round Yellow Seeds X Wrinkled Green Seeds

P1P2 Round Yellow Seeded X Wrinkled Green Seeded

F1 all Round Yellow Seeded
F2 315 101 108 32
Round Wrinkled Round Wrinkled
Yellow Yellow Green Green

Approximate 9 : 3 : 3: 1 phenotypic ratio

Law of Independent Assortment:

• During gamete formation, segregating pairs of factors assort independently of each
other
“ Genes for different characters are inherited independently of one another”
“ The members of one pair of alleles segregate independently of the other pair”
• Chances of a plant to have round or wrinkled seeds do not interfere or are
independent of its chance to have yellow or green seeds
• As a result of segregation, each gamete receives one member of every pair of unit
factors
• All possible combinations of gametes will be formed in equal frequency/proportion

Explanation of Mendel’s Dihybrid Phenotypic Cross:

P1P2 RRYY X rryy

F1 RrYy x RrYy
* F1 males and females form 4 kinds of gametes each based on random
combinations of the two different alleles
* Selfing of the F1 or crossing with a similar F1 will result to 16 possible
combinations of gametes assuming random mating
* 9 resulting genotypes in F2 with a ratio of
1:2:1:2:4:2:1:2:1
* 4 phenotypes in F2 with a ratio of 9:3:3:1

Punnet Square Method:

M/F RY Ry rY ry

RY RRYY RRYy RrYY RrYy

Ry RRYy RRyy RrYy Rryy
rY RrYY RrYy rrYY rrYy
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ry RrYy Rryy rrYy rryy

Summary:
Genotypic Ratio:
1 RRYY : 2RRYy: 1RRyy: 2RrYY: 4RrYy: 2Rryy: 1rrYY: 2rrYy: 1rryy
Phenotypic Ratio:
9 Round Yellow Seeded: 3 Round Green Seeded: 3 Wrinkled Yellow Seeded: 1 Wrinkled Green
Seeded
Phenotypic Proportion:
9/16 Round Yellow Seeded 3/16 Round Green Seeded 3/16 Wrinkled Yellow Seeded 1/16
Wrinkled Green Seeded
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Genetic Ratios and Probability

Probability:
• Times an event is expected to occur in repeated trials
• Equivalent to the probability of its occurrence in a single trial
N= possible outcomes
M=event of interest occurs
Pr(M) = m
N
Multiplication Rule:
• Pr of joint occurrence of events (A) and (B) is the Pr of occurrence of (A) times the Pr
of occurrence of (B) given that (A) has occurred.
• In Genetics the events of interest are independent → occurrence of 1st event has no
effect on the Pr of occurrence of the 2nd event
• The probability of two independent events occurring together is the product of their
individual probabilities
• Provides a simple way to determine the probability of a certain genotype/phenotype
among the progeny from a cross involving numerous pairs of alleles undergoing
independent assortment → tri and polyhybrid crosses
• Probability of any particular gamete or a given phenotype as well as genotype may be
determined using the rules of probability

Example:
• organism with genotype AaBbCcDDeeFfGg (assuming all genes are in separate
chromosomes)
• Kinds of gametes = (2)(2)(2)(1)(1)(2)(2) = 32
• Pr of each gamete = 1/32
• Mate with AaBbCcDdEeFFGg
• Probability of getting a particular phenotype/genotype among the offspring could be
obtained by considering every combination individually and applying the product rule
of probability
• Pr of getting an offspring with ABcDeFg phenotype = A(3/4) x B(3/4) x c (1/4) x D(1) x
e(1/2) x F(1) x g(1/4) = 9/512

Addition Rule of Probability:

• Pr of occurrence of one or another of a set of mutually exclusive events is the sum of
the probabilities of the separate events
Example:
If two individuals heterozygous for 3 pairs of genes are mated, what is the probability that
the progeny will have either genotype AABbCC or AaBbCc?

The Binomial Distribution:

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• Probability of various combinations in groups of a given size representing a particular
ratio can be calculated by the binomial expansion of (p + q) n
• where p and q → represent the probabilities of occurrence of two alternative events
(e.g. probability of a boy or girl)
n = size of the group involved
• Binomial expansion includes all possible combinations of the two alternative events
• The probability for each combination can be determined from the binomial coefficient
for this combination as compared with all possible combinations
• Coefficient for each term in the binomial expansion can be determined using the
Pascal’s pyramid

Pascal’s Pyramid:
n Binomial coefficients Total number
of combinations
0 1 1
1 1 1 2
2 1 2 1 4
3 1 3 3 1 8
4 1 4 6 4 1 16
5 1 510 5 1 10 32
6 1 6 15 20 15 6 1 64
7 1 7 21 35 35 21 7 1 128

Example 1 :
combinations of boys and girls for families of a given size may be calculated by the binomial
expansion
• In a family of 4 children which combination of boys and girls will most likely occur?
(p + q)4 = p4 + 4p3q + 6p2q2 + 4pq3 + q4
Answer: 2 boys and 2 girls Pr = (6)(1/2) 2(1/2)2
• If Pr of alternative events are the same, the combination that would most likely occur
would be the combination (term) with highest coefficient.

Binomial Distribution Applied for Other Values of p and q

Example 2: occurrence of albinism in the progeny of families of different sizes

• Cross of two normally pigmented individuals both heterozygous for albinism
A = normal pigmentation a = albino
Aa x Aa → ¾ A_ and ¼ aa
¾ normal pigmentation ¼ albino
• In a family of 4 children what is the Pr of 2 normally pigmented and 2 albino
= 6(3/4)2(1/4)2
Which combination of normally pigmented and albino would most likely occur?

Use of Factorials:
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When the Pr of only a certain combination of the two alternative events in a given size group
is required, factorials may be used:
P = n! pxq(n-x)
x!(n-x)!
where n! = product of the integers making up the total size of the group
x! = product of the integers for the class with probability p
(n-x)! = product of the integers for the class with probability q
p = probability for one occurrence
q = probability for the other

Example 1:

6 babies born in a given hospital on same day, what is the Pr of 2 boys and 4 girls
P = 6! (1/2)2(1/2)4
2!4!
Same as 15(1/2)2(1/2)4 if (p+q)6

Example 2:

In a polyhybrid cross, if the specific gene combination is not required in determining the
combination of dominant and recessive phenotypes, Pr may be determined from the specific
term of the binomial or using factorials.
Pentahybrid cross:
AaBbCcDdEe x AaBbCcDdEe
Pr of dominant phenotype = ¾
Pr of recessive phenotype = ¼
Pr of 3 dominant and 2 recessive phenotypes in the progeny:
P = 5! (D)3(d)2
3!2!
= 5! (3/4)3(1/4)2 or P = 10(3/4)3(1/4)2
3! 2!

If a particular birth order is considered:

• independent events since one event (birth) has no bearing on the outcome of the
other.
Example 1: In a family of 4 children, what is the Pr that the first 3 children will be girls and the
last will be a boy?
P = (1/2)(1/2)(1/2)(1/2) = 1/16
Example 2: In a family of 4 children, what is the Pr that the first 2 will be normally pigmented
and the last 2 will be albino? (same genotypes of parents)
P = (3/4)(3/4)(1/4)(1/4) = 9/256
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Other Dominance Relations and Multiple Alleles

Dominance relationships
 Mendel’s experiments → demonstrated complete dominance relationship between
two different alleles for each gene pair
 Other experiments → phenotypes and ratios cannot be explained on the basis of
complete dominance
 Exceptions did not disprove Mendel’s principles but instead extended and developed
the forwarded principles

1. Incomplete Dominance/No Dominance/Semi-Dominance

 Dominance is absent and the progeny does not resemble any of the parents
 F1 has a phenotype which is intermediate between the two parents
Examples:
a. flower color of Mirabilis jalapa (4:00 plant): red, white, pink
b. Shape and color of radishes: elongate, round, oval; red, white, purple
* Genotypic and phenotypic ratios are the same

2. Co-Dominance
➢ Both alleles are fully expressed in the heterozygotes → phenotypically distinguishable
from both homozygotes
➢ Each allele of a gene → associated with a specific gene product → both gene products
coded for by the two different alleles will occur in the heterozygote

Example for Co-Dominance:

 MN blood group antigens in man (Landsteiner and Levine (1927):
allele LM is co-dominant with its allele LN
LMLM → M blood type
LNLN → N blood type
LMLN → MN blood type

Multiple Alleles:
- Allele → specific form of a gene
- Generally assumed that for a gene there are only two alternative forms or alleles
- Alleles → may produce a whole series of variable phenotypes → there are more
than two alleles that exist for the gene → defined as a system of multiple alleles

Wild type allele:

- produce an active gene product and results to the manifestation of a “normal
phenotype”
- Could be many occurring in a population
- produce gene products with different levels of activity → produce phenotypes
within the “wild-type range”
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Mutant Allele:
- results in an altered gene product → altered phenotype
- exhibit a wide range of gene product activity from no activity to almost wild type
level of activity
- produce a whole series of variable phenotypes ranging from extreme mutant
phenotype to nearly wild type phenotype

Isoalleles:
- alleles that act within the same phenotypic range
- Wild type isoalleles → isoalleles that act within the phenotypic range of a normal
character
- Mutant isoalleles → isoalleles that act within the phenotypic range of an abnormal
character

Examples of isoalleles:

1. Gene controlling eye color in Drosophila melanogaster

 Wild type → red eyes
* Have vast array of eye-color mutants:
 mutant alleles of white gene - given names that reflect the phenotypes that they
produce in homozygous flies
 produce gene products of different levels of activity
wa - white apricot ww - white wine
we - white eosin wbl - white blood
ch crr
w - white cherry w - white carrot
co
w - white coral w cf - white coffee
most extreme mutant phenotype → white eyes (no coloration)

2. Coat color in rabbits

 four alleles:
c+ (wild type) - full color
cch (chinchilla) - mixed colored and white hairs
ch (Himalayan) - white with black tips on the
extremities
c - albino

alleles show gradation in dominance

 c+ > cch > ch > c

 Members of multiple allele series → represented by same letter or symbol with

appropriate superscripts to represent different alleles

3. ABO Blood type alleles in humans

 Involves the genetic locus controlling the blood types A, B, AB and O
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ABO locus :
 has three alleles (IA, IB, i)
 IA and IB → co-dominant
 i → recessive
 controls the type of glycolipids/glycoprotein found in the erythrocytes that serve as
antigen (agglutinogens) and the antibodies (agglutinins) present in the serum
Blood Genotype RBC Serum RBC Transfusions
type Agglutinogen Agglutinin Agglutinated accepted

A IAIA, IAi A anti-B B, AB A, O

B IBIB, IBi B anti-A A,AB B, O

AB IAIB AB none none A, B, AB, O

O ii none anti-A A, B and AB O

and anti-
B

blood type AB → have both A and B antigens but no anti-A and anti-B
blood type O
- lack both antigens; carry both anti-A and anti-B
- can be transfused to individuals of any blood type if blood is introduced slowly
enough to permit sufficient dilution of anti-A and anti-B antibodies present in the
serum of the donor

4. Rh factor alleles
- Discovered by K. Landsteiner and A.S. Wiener (1940) from rabbits immunized with
blood from monkey (Macaca rhesus)
- Antibodies produced by rabbits were found to agglutinate the RBC of monkey and a
high % of Caucasians of New York
- Rh positive individuals → RBC react with Rh antibody

Test for Rh incompatibility:

 Drop of blood from subject and introduction of anti-Rh serum
 Agglutination → Rh positve
 No agglutination → Rh negative
* Rh incompatibility occurs when Rh negative mother bears Rh positive pregnancy
(mild or severe hemolytic jaundice and anemia (erythroblastosis fetalis)

Consequence of Rh positive pregnancy:

 1st Rh positive fetus may be unaffected
 Succeeding Rh positive fetuses → could result to death
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• Mother already has “memory cells” that can provide sufficient antibodies in a shorter
period of time → cause erythroblastosis fetalis

Risk in blood transfusions:

 Rh negative individuals can get sensitized with RBC positive for Rh factor through blood
transfusions
 Transfusion of Rh positive blood can be fatal

Genetic Control of Rh system:

 Before was believed to be controlled by a single pair of alleles R and r
 Discovery of new antibodies → postulation of additional alleles
 Wiener’s hypothesis → base on a series of multiple alleles with 8 initially included in
the series (R1, R2, R3, R4, R5, R6, R7, R8)
 Presence of a dominant R allele → Rh positive phenotype
 Double recessive genotypes → Rh negative phenotype
 R.R. Race and R.A. Fisher
- Explained Rh system on the basis of 3 genes that are very closely associated on the same
chromosome
- Closely associated genes act like alleles in human populations
Molecular evidence:
- Multiple alleles exist at a locus or loci encoding Rh antigen(s) whether single gene or
several genes are involved
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Gene Interaction/Modified Ratios

Assumptions and conventions adopted with regards to discussion on modified ratios:

1. Distinct phenotypic classes are produced, each clearly discernible from all others. Such
traits illustrate discontinuous variation, where phenotypic categories are discrete from
one another.

2. Non-allelic genes are not linked → can assort independently of one another

3. Assume complete dominance exists between alleles of any gene pair

• AA and Aa or BB and Bb → equivalent in their genetic effects
• Can use designations A_ or B_ where (_) indicates that either allele may be present,
without consequence to the phenotype

4. All P1 crosses involve homozygous individuals (e.g. AABB x aabb, AAbb x aaBB or
aaBB x AAbb)
• All F1 consists only of heterozygotes of genotype AaBb

5. In each example, the F2 generation from the heterozygous parents is the main focus of
analysis.
• When 2 non-allelic genes are involved, the F2 genotypes fall into 4 categories:
9 A_B_
3A_bb
3aaB_
1aabb

I. Epistasis
- Greek word “stoppage”
- Effect of one gene masks the effect of a non-allelic gene
- Genes involved influence the same general phenotypic characteristic
Epistatic gene - gene that masks
Hypostatic gene - gene that is masked

A. Dominant Epistasis

1. Modified Ratio of 12:3:1

- Complete dominance at both gene pairs
• A dominant to a, B dominant to b
- The first gene when dominant is epistatic to the other
• A epistatic to B and b
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Example: fruit color in summer squash

A = white a = colored
B = yellow b = green
P1P2 AAbb x aaBB
white yellow
F1 AaBb x AaBb
white white
F2 9 A_B_ white
3 A_bb white
3 aaB_ yellow
1aabb green

Phenotypic ratio: 12 white:3 yellow:1 green

2. Modified Ratio is 13:3

Complete dominance at both gene pairs

- A is epistatic to B and b
- bb is epistatic to aa
- A and bb have the same expression
• Also referred to as Dominant and Recessive Interaction 13:3
- Only two phenotypes result when a dominant genotype at one locus (e.g. A_) and the
recessive genotype at the other locus produce the same phenotypic effect
- A_B_, A_bb and aabb produce one phenotype and aaB_ produces the other phenotype

Example: feather color in domestic fowl

- White leghorn → carry in homozygous condition a color gene (C) and a dominant
inhibitor (I) which prevents the action of (C)
- White wyandotte → has neither the inhibitor nor color gene (iicc)
I = color inhibitor i = no inhibitor
C = color c = no color
I epistatic to C and c
cc epsitatic to ii
I and cc have the same expression

P1P2 IICC X iicc

white leghorn white wyandotte
F1 IiCc X IiCc
white white
F2 9 I_C_ white
3 I_cc white
3 iiC_ colored
1 iicc white
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Phenotype ratio: 13 white: 3 colored

B. Recessive Epistasis

Modified ratio is 9:3:4

- Complete dominance at both gene pairs
- The first gene when homozygous recessive is epistatic to the other gene
- Only if the dominant allele is present at the A locus can the alleles of the hypostatic B
locus be expressed
aa is epistatic to B and b

Example: Fur color inheritance in mice

A = Color a = albino (recessive mutation
which eliminates pigmentation
B = Agouti b = black
P1P2 AAbb X aaBB
black albino
F1 AaBb X AaBb
Agouti Agouti
F2 9 A_B_ Agouti
3 A_bb black
* 3 aaB_ albino
1 aabb albino
* Albino even if one dominant allele for color is present
Phenotype ratio: 9 Agouti: 3 black: 4 albino/white

Gene A Gene B
Precursor ---------------→ black ---------------→ Agouti
Molecule pigment pattern
(colorless)
• Presence of gene A → black pigment produced from colorless precursor
• Presence of gene B → black pigment is deposited during the development of hair in a
pattern producing the agouti phenotype
• bb genotype → all the hair remains black
• aa genotype → no black pigment is produced regardless of the presence of B or b →
masks or suppresses the expression of B or b allele

C. Complementary genes/duplicate recessive epistasis

- Complete dominance at both gene pairs

- Homozygous recessive condition of first gene is epistatic to the other gene
- Homozygous recessive condition of the second gene is epistatic to the first gene
• aa epistatic to B
• bb epistatic to A
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Example 1: pigment production in poultry and almost all birds

P1P2 AABB X aabb

colored white
F1 AaBb X AaBb
colored colored
F2 9 A_B_ colored
3 A_bb white
3 aaB_ white
1 aabb white

Phenotypic ratio: 9 colored: 7 white

Example 2: flower color in sweet peas

P1P2 AAbb X aaBB

white white
F1 AaBb X AaBb
purple purple
F2 9 A_B_ purple
3 A_bb white
3 aaB_ white
1 aabb white

Phenotypic ratio: 9 purple flowers: 7 white flowers

• Genes A and B are required for pigment production

• Dominant genes code for functional enzymes that catalyze the successive steps in the
synthesis of the pigments
gene A gene B
enzyme A enzyme B
Substrate -----------------------→ colorless -------------------→ pigment
Intermediate

D. Duplicate genes with cumulative effect

Modified ratio is 9:6:1

- Dominant condition (either homozygous or heterozygous) at either locus produces the
same phenotype
- Genotypes A_bb and aaB_ result to the same phenotype
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Example : epistatic genes involved in pigment production

A_bb and aaB_→ produce one unit of pigment (same phenotype)

A_B_ → 2 units pigment produced → different genotype
aabb → no pigment produced → different genotype

II. Novel phenotypes

- Complete dominance at both gene pairs

- New phenotypes are produced from the interaction between dominants and
homozygous recessives
• aa interacts with B to produce new phenotype
• bb interacts with A to produce different phenotype
• aabb also produce a different phenotype

Example: comb production in poultry

P1P2 RRpp X rrPP

rose pea
F1 RrPp X RrPp
walnut walnut
F2 9 R_P_ walnut
3 R_pp rose
3 rrP_ pea
rrpp single

Phenotype ratio: 9 walnut: 3 rose: 3 pea: 1 single

Example 2: inheritance of fruit shape in summer squash (Cucurbita pepo)

- Modified ratio is 9:6:1

- Complete dominance at both gene pairs
- New phenotypes are produced from the interaction between dominants and
homozygous recessives
- aa interacts with B and bb interacts with A to produce the same phenotype
- A_B_ and aabb produce different phenotypes
P1P2 AABB X aabb
disc shaped long
F1 AaBb X AaBb
disc disc
F2 9 A_B_ disc
3 A_bb sphere
3 aaB_ sphere
1 aabb long
DIANNA KYLE A TAGALOG BSED - SCI
BIO 2242
Phenotypic ratio: 9 disc: 6 sphere: 1 long

• Both gene pairs influence fruit shape equally

• A dominant allele at either locus ensures a sphere shaped fruit
• Absence of dominant alleles result to a long fruit
• A dominant allele at both loci result to a flattened disc-shaped fruit
** Similar phenotypic ratio to duplicate genes with cumulative effect

Modifiers
- Genes that change the phenotypic effects of other genes in a quantitative fashion
- Specific mode of action is achieved through dilution or enhancement of the effects of
major genes

Suppressors/Suppressor Genes
- Genes that completely suppress the expression of another gene although the latter is
present