Chapter 3: EXTENSIONS OF MENDELIAN

INHERITANCE

Chapter 3d: Genes of Variable Expressivity

This material is for exclusive use of BIO 121 (General Genetics) students
under the Science Department, CNSM, Mindanao State University-General
Santos. Unauthorized use of this material is prohibited.
Learning Outcomes References

Levine M, Watson JD, Baker TA, Gann A,

• Gain knowledge about Bell SP, Losick R (2014). Molecular Biology
certain genes in of the Gene,Published by Pearson
humans, plants and (September 3rd 2013) - Copyright © 2014
animals which cause
the expression of Klug W and Cummings M (2009).
variable phenotypes Concepts of Genetics. 9th ed. Prentice Hall
Inc.

Weaver RF (2012). Molecular Biology. 5th

ed. McGraw Hill Co., New York
 GENES OF VARIABLE EXPRESSIVITY
1. Pleiotropy

A single mutation simultaneously affects several traits

Example: Sickle cell anemia
mutation
HbA ------------ HbS ( deformed hemoglobin)

HbA …CTC… DNA

…GAG… mRNA
glutamic acid polypeptide

HbS …CAC… DNA

…GUG… mRNA
valine polypeptide
Alleles of the –globin gene influence the type of hemoglobin produced, red blood cell
shape, susceptibility to anemia, malaria resistance, organ function, and life-span.
Pleiotropy
A sickle-shaped erythrocyte
PKU : Another Example
of Pleiotropy
Pleiotropy: other examples
Porphyria variegata ( vampire’s disease)

King George III

 Nebuchadnezzar

Vincent van Gogh

Paula Frias Allende

 Pleiotropy : other examples

white eye gene for Drosophila also affects eye color, causes
reduced fertility and longevity
 GENES OF VARIABLE EXPRESSIVITY
2. Penetrance
given genotype may or may not show phenotype
2.a. Complete Penetrance- all individuals express a given genotype

Ex. XW XW and XW Xw – all with white eyes

2.b.Incomplete Penetrance- not all would express a given genotype

Ex. Harelip- only one of monozygotic twins would have harelip

Dominant retinoblastoma- malignant eye tumor in children;
90% penetrance
 when penetrant:

Expressivity- degree in which a particular phenotypic effect is exhibited in an individual

a. Constant expressivity- trait in all individuals is identical

Example: kinky hair, vestigial wings in Drosophila

b. Variable expressivity- not identical

Example – polydactyly, mouse spotting
VARIABLE
EXPRESSIVITY
PENETRANCE AND EXPRESSIVITY
 Penetrance and Expressivity – Modifications of
Phenotypes Associated with Particular Alleles
Both the degree of penetrance (complete or incomplete) and expressivity
(invariant or variable) are influenced by modifier genes and the environment.

Dark vs. light coloration in Siamese cats show the effect of environment on the link
between genotype and phenotype.
3. Phenocopy-
-environmentally-induced phenotype which closely resembles the phenotype
produced by a known recessive gene
-or ‘artificial phenotype’

insulin
1. Insulin- dependent diabetics (dd) normal phenotype
injections

2. Thalidomide babies – used as sleeping pill and

tranquilizer in the early 1960s teratogenic
when used during the first trimester of
pregnancy
-mimics a recessive disorder, phocomelia,
characterized by abnormalities in the
bones of arms and/or legs

Phocomelia
Thalidomide (1959-61)
prescribed as sedative for expectant mothers suppressed limb-bone
development

Thalidomide babies
3. Phenylketonuria (PKU)- too much phenylalanine in the bloodstream due to
inability to metabolize it
PKUs are mentally retarded; A recessive disorder (pp); PP and Pp are normal

But:
• Female PKUs with babies who are heterozygous for PKU (Pp)
•Pp babies should be normal but some babies are mentally retarded due to
abnormal blood biochemistry of their mothers
• Condition not due to babies’ genotypes
•High levels of phenylalanine in the mother’s blood that babies’ brains can not
develop normally
•Mimics a recessive disorder (pp)
 Incomplete Penetrance of a
Dominant Allele

 Individual Q must have at least one copy of the dominant allele.

 But the incomplete penetrance of the dominant allele means that
some individuals with the dominant allele will not show the
phenotype of the dominant allele.
 ENVIRONMENTAL EFFECTS

Environmental conditions help determine

expression of genotype

Some effects of the environment:

 Age of onset (male pattern pH of the soil will change the color of
baldness) hydrangea flowers from blue to pink
 Sex (male pattern baldness)
 Temperature (influences
enzymes, coloration in Siamese
cats, sex determination in
reptiles)

Himalayan rabbit carries allele specifying

heat-sensitive enzyme for melanin
production
• Temp. sensitive enzyme acts at surface of body:
• In cold areas, enzyme is more active
fur is darker
Male Pattern
Baldness

Autosomal
•Dominant in males
•Recessive in
females
•Influenced by
testosterone
 SEX-INFLUENCED GENES
1. A mahogany and white cow has a red and white calf. What is the sex of the
calf is mahogany and white spotting is dominant in males and red and white is
dominant in females?
M= mahogany m=red
MM x mm
♂ ♀
MM mahogany mahogany
Mm mahogany red
mm red red
2. A cross between a horned female ewe and a hornless ram produced a
horned offspring. What is the sex of the F1 individual?
♂ ♀
HH horned horned
Hh horned no horns
hh no horns no horns

3. What offspring will be produced by a bald father and a normal mother?

♂ ♀
BB bald bald
Bb bald not bald
bb not bald not bald
 SEX-LIMITED TRAITS
•Found in both sexes but manifested only in one sex due to
physiological/anatomical reasons
•Examples:genes for milk production found in both bulls and cows
Genes for long pointed feathers in cocks and hens
Genes for beard development in men and women
•In moths and chicken ZZ System
•Males are homogametic, females are heterogametic
ZZ ZW
• Example: B= Barred feathers (dominant)
B= nonbarred ( recessive)
ZBZB - barred male
ZBZb- carrier male
ZBW- barred female
ZbW- non-barred female
The chicken at the left has
barred feathers
1. non-barred female x barred male
ZbW x ZBZB

2 ZBZ b , 2 ZBW

2 carrier males, 2 barred females

2. barred male x barred female

Z BZ B x Z BW

2 ZB Z B , 2 ZB W

2 barred males, 2 barred females