GENE SEGREGATION AND

INTERACTION

Jonah S. San Sebastian, MS

Faculty, BSD
 MODIFIER GENES
1. NOVEL PHENOTYPE
Complete dominance at both gene pairs, new phenotypes are produced from
interaction between dominants and between both homozygous recessives (A
dominant to a; B dominant to b; a interacts with B producing new phenotype;
aabb also produces a new phenotype).
Ex. Comb shape in poultry
R_ rose rr single
P_ pea pp single
P1 RRpp (rose) x P2 rrPP(pea)
F1 RrPp (Walnut)
F2 9 R_P_ (Walnut)
3 R_pp (Rose)
3 rrP_ (Pea)
1 rrpp (single)
Phenotypic Ratio: 9:3:3:1
jssansebastian@dlsud.edu.ph
2. Recessive Epistasis
Complete dominance at both gene pairs, but one gene,
when homozygous recessive is epistatic or masks the
effecr of the other gene (A dominant to a; B dominant to
b; aa epistatic to B and b)
Ex. Mouse coat color
CCaa (Black) x ccAA (Albino)
F1 CcAa (Agouti)
F2 9 C_A_ (Agouti)
3 C_aa (Black)
3 ccA_ (Albino)
1 ccaa (Albino)
Phenotypic Ratio: 9:3:4 jssansebastian@dlsud.edu.ph
3. Dominant epistasis
 Complete dominance at both gene pairs but one gene
when dominant is epistatic to the other (A dominant to a;
B dominant to b; A epistatic to B and b).
Ex: Fruit color in summer squash
AAbb (White) x aaBB (Yellow)
F1 AaBb (White)
F2 9 A_B_ (White)
3 A_bb (White)
3 aaB_ (yellow)
1 aabb (green)
Phenotypic Ratio: 12:3:1
jssansebastian@dlsud.edu.ph
4. Dominant Epistasis
 Complete dominance at both gne pairs but the first gene
when dominant is epistatic to the second and the second
gene, when homozygous recessive is epistatic to the first
(A dominant to a; B dominant b; A epistatic to B and b;
bb epistatic to A_ and aa).
Ex: Feather color in fowl
IICC (White leghorn) x iicc (White wyandotte)
F1 IiCc (White)
F2 9 I_C_ (White)
3 I_cc (White)
3 iiC_ (Colored)
1 iicc (White)
Phenotypic Ratio: 13:3 jssansebastian@dlsud.edu.ph
5. Complementary Genes
 Complete dominance at both gene pairs, but either gene
when homozygous recessive is epistatic to the effects of
the other gene (A dominant to a; B dominant to b; bb
epistatic to A).
 Ex: Pigment production in poultry
CCDD (Colored) x ccdd (White)
F1 CcDd (Colored)
F2 9 C_D_ (Colored)
3 C_dd (White)
3 ccD_ (white)
1 ccdd (white)
Phenotypic Ratio: 9:7 jssansebastian@dlsud.edu.ph
6. Duplicate Gene
 Complete dominance at both gene pairs, but either gene,
when dominant is epistatic to the other (A dominant to a;
B dominant to b; A epistatic to b; B epistatic to a).
 Ex: Seed Capsules of Shepherd’s purse
AABB (Triangular) x aabb (Ovoid)
F1 AaBb (Triangular)
F2 9 A_B_ (Traiangular)
3 A_bb (Triangular)
3 aaB_ (Triangular)
1 aabb (Ovoid)
Phenotypic Ratio: 15:1
jssansebastian@dlsud.edu.ph
 Problem Solving
 In dogs a dominant gene (I) determines white coat, and recessive gene (i) gives colored coat. In
the presence of (ii) the coat color is black due to the dominant (B), or brown due to the recessive
gene (b). (A) If two dogs of genotypes (BbIi) are mated, what would be the chance among white
offspring to get puppies of genotypes similar to those of the parents? (B) How many possible
genotypes may a white dog have? (C) What would be the probability of getting dogs pure-
breeding for black color? (D) What is the gene action involved?
 In cats, there is a gene which produces ticked fur (bands of different colors on each hair) called
Agouti (H). The recessive allele (h) for this gene produces hair which is a solid color from end to
end. In addition, there is a coat color gene which has a recessive albino allele (a) which, in the
homozygote, prevents the production of any coat color pigment, resulting in a white cat with pink
eyes, the traditional albino. An albino female cat is mated to a solid brown male cat. All of their
offspring are Agouti. The males and females among these offspring are allowed to freely
intermate, producing a flock of F2 kittens. (A) Predict the phenotypic ratio for fur color among
these many grand kittens (show the cross), (B) What is the gene interaction involved?

jssansebastian@dlsud.edu.ph
SEX LINKED and SEX INFLUENCED
TRAITS
SEX LINKED X-linked dominant (Fragile X
 Gene controlling the Syndrome)
trait is found in sex X-linked recessive
(Hemophilia,
chromosome (X or Y)
Colorblindness)
Y-linked
(Hypertrichosis pinnae)

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Sex Influenced Trait
 Gene controlling the trait is found in
autosomal chromosome.
 It has a gender preference

Ex. Male pattern baldness

(20p)

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Problem
1. In humans, hemophilia is a sex-linked recessive trait. If
a female who is a carrier for hemophilia marries a male
with normal blood clotting, answer the following
questions.

a. What fraction of the female children will have hemophilia?

b. What fraction of the female children will be carriers?
c. What fraction of the male children will have normal blood clotting?

jssansebastian@dlsud.edu.ph
Problem
In cats, the allele (B) produces black color but (b) produces a yellow
color. These alleles are incompletely dominant to each other. A
heterozygote produces a tortoise shell color. The alleles (B) and (b)
are sex-linked as well. Cross a tortoise shell female with a yellow
male.

a. What percent of their offspring will be yellow?

b. What percent of their offspring will be black?
c. What percent of their offspring will be tortoise shell?

jssansebastian@dlsud.edu.ph
 Modes of Inheritance
In humans, pedigree analysis is used to determine individual
genotypes and to predict the mode of transmission of single
gene traits

13
 Autosomal Dominant Traits
 Vertical pattern; multiple generations affected
 Males and females equally likely to be affected
 Each child of an affected individual has a 50% chance to be affected
 Every affected child has an affected parent

14
 Autosomal Recessive Traits
 Horizontal pattern; single generation affected
 Males and females equally likely to be
affected
 Parents of affected child are unaffected gene
carriers and have a 25% recurrence risk
 Unaffected siblings have a 2/3 or 67%
chance to be carriers
 Children affected individuals are obligate
carriers

15
X-linked Dominant
 Females are twice as likely to be
affected than males.
 May be lethal to males and
usually milder in females
 Affected males pass the genes to
all their daughters
 No male to male transmission
 Sons and daughters of affected
female

jssansebastian@dlsud.edu.ph
X-linked Recessive
 Males are more often affected
than females
 Affected males pass the gene to
all their duaghters and none of
their sons
 Daughters of carrier have 50%
chance to be unaffected
 Sons of carrier females have
50% chance to be affected
 Affected males in the family are
related to each other through
carrier female

jssansebastian@dlsud.edu.ph
Y-linked (Holandric)
 Only males are
affected
 Affected males pass
the disease gene to
all their sons and
none to the
daughters

jssansebastian@dlsud.edu.ph
Problems
 Identify the mode of
inheritance
 Give the genotypes
of the individuals in
each generation

jssansebastian@dlsud.edu.ph
Problem
 Identify the mode of
inheritance
 Give the genotypes
of the individuals

jssansebastian@dlsud.edu.ph
Environmental Influence on Gene
Expression
 Contribution of genes and environment is additive

 Genes and environment are correlated: genes alter the exposure to

relevant environmental factors

 Genes and environment interact:

 Genes control sensitivity to the environment,
 The environment controls gene expression

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Expressivity
 Individuals with the same
genotype can also show
different degrees of the
same phenotype.
Expressivity is the degree to
which trait expression
differs among individuals.

jssansebastian@dlsud.edu.ph
Penetrance
 is the proportion of individuals carrying a particular variant
of a gene (genotype) that also expresses an associated trait
(phenotype)

Example: Familial breast cancer due to mutations in the

BRCA1 gene
Females with a mutation in this gene have an 80% lifetime risk
of developing breast cancer. The penetrance of the condition
is therefore 80%.

jssansebastian@dlsud.edu.ph
Phenocopy
 is a variation
in phenotype (generally
referring to a single trait) which
is caused by environmental
conditions (often, but not
necessarily, during the
organism's development), such
that the organism's phenotype
matches a phenotype which is
determined by genetic factors.

jssansebastian@dlsud.edu.ph
Maternal effect Maternal diet (Gestation)

Susceptibility to Diseases
Maternal effect is a situation
where the phenotype of an
organism is determined not
only by the environment it Hyperglycemia during
experiences and its genotype, gestation
but also by the environment
and genotype of its mother
.

Obesity and Coronary

Heart Disease in
adulthood

jssansebastian@dlsud.edu.ph
Linkage and Recombination

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 Linkage and Recombination
Theory of chromosomal non-disjunction

Calvin Bridges

Tomas Hunt Morgan (Nobel Prize 1933)

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 Linkage and Recombination

Alfred H. Sturtevant (Gene mapping)

Herman Joseph Muller (Radiation Genetics)

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jssansebastian@dlsud.edu.ph
TYPES OF LINKAGE
1. Complete Linkage
2. Incomplete Linkage
Single Cross Over (SCO)
Double Cross Over (DCO)

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Linkage Map
 A linkage map is a genetic map of a species or
experimental population that shows the position
of its known genes or genetic markers relative to
each other in terms of recombination frequency,
rather than a specific physical distance along
each chromosome.

jssansebastian@dlsud.edu.ph
Recombination Frequency
One “map unit” of distance is the distance that
produces a recombination frequency of 1%;
Therefore:

Map distance (in map units) = recombination frequency

X 100

= (# Recombinant gametes) X 100

(# Recombinant gametes) + (# nonrecombinant
gametes)
jssansebastian@dlsud.edu.ph
Problem
In potato, genes A, B, and C Genotype Observed Type of Gamete
ABC 390
of chromosome 5 are abc 374
linked. AABBCC and
AbC 27
aabbcc were used as
parents. The F1 is then
testcrossed yielding the aBc 30

following: ABc 5
abC 8

Abc 81

aBC 85

Total 1000

jssansebastian@dlsud.edu.ph