Reading Notes

Chapter 5- Extensions and Modifications of Basic Principles

Types of Dominance

Complete Dominance- type of dominance in which the same phenotype is expressed in

homozygotes (AA) and in heterozygotes (Aa); only the dominant allele is expressed in a
heterozygote

Incomplete Dominance- type of dominance in which the phenotype of the heterozygote is

intermediate between the phenotypes of the two homozygotes

When a homozygous eggplant that produces purple (PP) is crossed with a homozygous that
produces white (pp), all the heterozygous F1 (Pp) plants produce violet fruit. When the F1 are
crossed with each other, they produce the following F2
14 purple (PP)
12 violet (Pp)
14 white (pp)
This is a 1:2:1 ratio

Codominance

The phenotype of the heterozygote is not intermediate between the phenotypes of the
homozygotes; rather, the heterozygote simultaneously expresses the phenotypes of both
homozygotes

Example: in the MN blood types of humans

The MN blood-group locus encodes one of the types of antigens on the surface of red blood
cells. Unlike foreign antigens of the ABO and Rh blood groups, foreign MN antigens do not elicit
a strong immunological reaction; therefore, the MN blood types are not routinely considered in
blood transfusions

Two alleles at the MN locus: LM allele (M antigen) and the LN allele (N antigen)

Homozygotes with genotype LMLM express the M antigen on the surface of their red blood
cells and have the M blood type
Homozygotes with genotype LNLN express the N antigen and have the N blood type

Heterozygotes with genotype LMLN exhibit codominance and express both the M and N
antigens; they have blood-type MN

Level of Phenotype Observed May Affect Dominance

Many phenotypes can be observed at several different levels: anatomical, physiological, and
molecular

The type of dominance exhibited by a characteristic depends on the level at which the
phenotype is examined

Cystic Fibrosis
A common genetic disorder in Caucasians that is usually considered to be a recessive disease
People who have CF produce large quantities of thick, sticky mucus, which plugs up the airways
of the lungs and clogs the ducts leading from the pancreas to the intestine, causing frequent
respiratory infections and digestive problems

The gene responsible for CF resides on the long arm chromosome 7. It encodes a protein
termed CF transmembrane conductance regulator (CFTR), which acts as a gated channel in the
cell membrane and regulates the movement of chloride ions into and out of the cell

People with CF have a mutated, dysfunctional form of CFTR that causes the channel to stay
closed, so chloride ions build up in the cell. This buildup causes the formation of thick mucus

Most people have two copies of the normal allele for CFTR and produce only functional CFTR
protein. Those with CF possess two copies of the mutated CFTR allele and produce only the
defective CFTR protein

Heterozygotes, who have one normal and one defective, produce both functional and defective
CFTR protein. Thus, at the molecular level, the alleles for normal and defective are codominant
because both alleles are expressed
However, because heterozygotes have one functional allele, it produces enough functional
CFTR to have no adverse effects (the mutated CFTR allele is recessive in the physiological level)
Penetrance and Expressivity

Incomplete Penetrance- the genotype does not always produce the expected phenotype. A
case in which some individuals possess the genotype for a trait but do not express the expected
phenotype

Human Polydactyly (the condition of having extra fingers or toes)

The trait is usually caused by a dominant allele. Occasionally, people possess the allele for
polydactyly, but nevertheless have a normal number of fingers and toes

In these cases, the gene for polydactyly is not fully penetrant

Penetrance is defined as the percentage of individual organisms having a particular genotype

that express the expected phenotype
• For example, if 42 people were examined and only 38 of them were polydactylous, the
penetrance would be 90%

Expressivity- the degree to which a trait is expressed

Polydactyly exhibits variable expressivity. Some people possess extra fingers or toes that are
fully functional, whereas others possess only a small tag of extra skin

The mere presence of a gene does not guarantee its expression!

Lethal Alleles

Causes death at an early stage of development- often before birth- so that some genotypes do
not appear among the progeny
A recessive lethal allele kills individuals that are homozygous for the allele; a dominant lethal
allele kills both heterozygotes and homozygotes

Truly dominant lethal alleles cannot be transmitted unless they are expressed after the onset of
reproduction

Multiple Alleles

For some loci, more than two alleles are present within a group of organisms. So, that locus has
multiple alleles (or allelic series)

No different from the inheritance of two alleles, except that a greater variety of genotypes and
phenotypes are possible
Plumage Patterns in Ducks
o One allele, M, produces the wild-type mallard pattern
o Another allele, MR, produces a restricted pattern
o A third allele, md, produces a dusky pattern
o In this series, MR > M > md (order of dominance)
o The number of genotypes possible will be [n(n+1)/2], where n=the number of different
alleles at a locus

ABO Blood Group in Humans

o This locus encodes antigens on the surface of red blood cells. The three common alleles
for the ABO blood-group locus are IA, IB, and i (which encodes no antigen, so it is O)
o In this series, IA > i, IB > i
o The IA and IB alleles are dominant over i and are codominant with each other
o The body produces antibodies against any foreign antigens. So, a person with blood-
type A produces anti-B antibodies because the B antigen is foreign to that person
o A person with blood-type O possesses no A or B antigens; consequently, that person
produces both anti-A antibodies and anti-B antibodies

Compound Heterozygotes
o In some people with CF, they have two identical defective alleles. Meaning that the
person is homozygous
o Other people with CF are heterozygous, possessing two different defective alleles
o An individual who carries two different alleles at a locus that result in a recessive
phenotype is referred to as a compound heterozygote

Gene Interaction
Interaction between genes at different loci that affect the same characteristic
Gene Interaction with Epistasis

Sometimes the effect of gene interaction is that one gene masks (hides) the effect of another
gene at a different locus (a phenomenon known as epistasis)

Epistasis is similar to dominance, expect that dominance entails the masking of genes at the
same locus. In epistasis, the gene that does the masking is called epistatic gene; the gene
whose effect is masked is a hypostatic gene. Epistatic genes may be recessive or dominant in
their effects

Hypostatic Gene- gene that is masked or suppressed by the action of a gene at a different locus
Epistatic Gene- gene that masks or suppresses the effect of a gene at different locus

Recessive Epistasis
o Seen in the genes that determine coat color in Labrador retrievers
o These dogs may be black, brown, or yellow; their different coat colors re determined by
interactions between genes at two loci
o One locus determines the type of pigment produced by skin cells, a dominant allele B
encodes black, and recessive allele b encodes brown
o The second locus determines the deposition of the pigment in the shaft of the hair;
dominant allele E allows dark pigment (black or brown) and recessive allele e allows
light pigment (yellow)
 o The presence of genotype ee at the second locus therefore masks the expression of the
black and brown alleles at the first locus
o A black Labrador that is homozygous for the dominant black allele (BB) with a yellow
Labrador that is homozygous for the recessive alleles (bb ee) and then intercross the 1,
we obtain progeny in the F2 in a 9:3:4 ratio
o In this example, allele e is epistatic to B and b because e masks the expression of the
alleles for black and brown pigments
o Alleles B and b are hypostatic to e
o In this case, e is a recessive epistatic allele because two copies of e must be present to
mask the expression of the black and brown pigments

Dominant Epistasis
o Only a single copy of an allele is required to inhibit the expression of an allele at a
different locus
o Dominant epistasis is seen in the interaction of two loci that determine fruit color in
summer squash: yellow, white, or green
o When a homozygous plant that produces a white squash is crossed with a homozygous
plant that produces a green squash and the F1 plants are crossed with each other, the
outcome is a 3:1 ratio
o Allele W inhibits pigment production and produces white squash. Allele W is epistatic to
Y and y: it masks the expression of these pigment-producing genes

Duplicate Recessive Epistasis

o Two recessive alleles at either of two different loci are capable of suppressing a
phenotype
o Albinism, the absence of pigment, is a common genetic trait in many plants and animals
o 9:7 ratio arises
Complementation

Complementation test- designed to determine whether two different mutations are at the
same locus (are allelic) or at different loci (are nonallelic)

Parents that are homozygous for different mutations are crossed, producing offspring that are
heterozygous. If the mutations are allelic (at the same locus), then the heterozygous offspring
have only mutant alleles and exhibit a mutant phenotype

If, on the other hand, the mutations occur at different loci, each of the homozygous parents
possesses wild-type genes at the other locus, so the heterozygous offspring inherit a mutant
allele and a wild-type allele at each locus. They will exhibit a wild-type phenotype

Complementation has taken place if an individual organism possessing two recessive mutations
has a wild-type phenotype, indicating that the mutations are at nonallelic genes (at different
loci)

There is a lack of complementation when two recessive mutations occur at the same locus,
producing a mutant phenotype

Sex Influences the Inheritance and Expression of Genes

Sex-influenced characteristics are determined by autosomal genes and are inherited according
to Mendel’s principles, but they are expressed differently in males and females

In this case, a particular trait is more readily expressed in one sex (the trait has higher
penetrance in one of the sexes)

Sex-limited characteristic is encoded by autosomal genes that are expressed in only one sex;
the trait has zero penetrance in the other sex
Example: male-limited precocious puberty. Results from an autosomal dominant allele (P) that
is expressed only in males. Males with precocious puberty undergo puberty at an early age,
usually before the age of 4. The penis enlarges, the voice deepens, and pubic hair develops

Because this trait is rare, affected males are usually heterozygous (Pp). A sex-limited
characteristic can be inherited from either parent, although the trait appears in only one sex

Cytoplasmic Inheritance

Not all genetic material of a cell is found in the nucleus. Some characteristics are encoded by
genes located in the cytoplasm, and these characteristics exhibit cytoplasmic inheritance

Because the cytoplasm is usually contributed entirely by one parent, most cytoplasmically
inherited characteristics are inherited from only one parent (usually the mother)

Cytoplasmically inherited characteristic frequently exhibit extensive phenotypic variation.

Different cells and different individual offspring will contain various proportions of cytoplasmic
genes

Genetic Maternal Effect

The phenotype of the offspring is determined by the genotype of the mother. In genetic
maternal effect, the genes are inherited from both parents, but the offspring’s phenotype is
determined by the genotype of the mother

Genomic Imprinting

Differential expression of a gene that depends on the sex of the parent that transmitted the
gene (mom or dad)

Males and females do contribute the same number of autosomal genes to their offspring, and
paternal and maternal autosomal genes have long been assumed to have equal effects

However, the expression of some autosomal genes is significantly affected by their parental
origin

Igf2, encodes a protein called insulin-like growth factor 2

o Offspring inherit one Igf2 allele from their mother and one from their father. The
paternal copy is actively expressed in the fetus and placenta, but the maternal copy is
completely silent
o Both male and female offspring possess Igf2 genes, but the key to whether the gene is
expressed is the sex of the parent transmitting it
Prader-Willi Syndrome
o Children with this syndrome have small hands and feet, short stature, poor sexual
development, and intellectual disability
o These children are small at birth and nurse poorly, but as toddlers they develop
voracious appetites and frequently become obese
o They are missing a small region on the long arm of chromosome 15. The deletion of this
region is always inherited from the father
Angelman Syndrome
o Same region of chromosome 15 being deleted, but it is inherited from the mother
o Children with this syndrome exhibit frequent laughter, uncontrollable muscle
movement, a large mouth, and unusual seizers
o They are missing a maternal copy of genes on the long arm of chromosome 15. For
normal development to take place, copies of this region of chromosome 15 from both
male and female parents are apparently required

Epigenetics

Phenomena due to alterations in DNA that do not include changes in the base sequence; often
affect the way in which DNA sequences are expressed

Genomic imprinting is just one form of epigenetics

Epigenetic marks are types of reversible changes to DNA that influence the expression of traits.
The inactivation of one of the X chromosomes in female mammals is another type of epigenetic
change

Anticipation

A genetic trait becomes more strongly expressed, or is expressed at an earlier age, as it is

passed from generation to generation

Environmental Effects on the Expression of Genotype

The phenotypic expression of some genotypes depends critically on the presence of a specific
environment

Example: temperature- sensitive allele (an allele whose product is functional only at certain
temperatures)

Phenylketonuria (PKU) is due to an autosomal recessive allele that causes intellectual disability.
o The disorder arises from a defect in an enzyme that normally metabolizes the amino
acid phenylalanine. When this enzyme is defective, phenylalanine is not metabolized,
and its buildup causes neurological damage in children
 o A simple environmental change, putting an affected child on a low-phenylalanine diet,
prevents the development on intellectual disability

Phenocopy- phenotype produced by environmental effects that is the same as the phenotype
produced by a genotype

The Inheritance of Continuous Characteristics

Discontinuous characteristics- only exhibits a few phenotypes that are easily distinguishable.
For example, the seed shapes as round or wrinkled

Human height is an example of a continuous characteristic

o People do not come in just a few distinct heights, there are a wide range of heights
o Described in quantitative terms (inches)

Continuous characteristics are also called quantitative characteristics

They frequently arise because genes at many loci interact to produce phenotypes. When a
single locus with two alleles encodes a characteristic, there are three genotypes possible: AA,
Aa, and aa. With two loci, each with two alleles, there are 9 genotypes possible

When there’s so many different phenotypes possible, they become indistinguishable and the
characteristic will appear to be continuous

Characteristics encoded by genes at many loci are called polygenic characteristics

Pleiotropy- the ability of a single gene to influence multiple phenotypes

o For example, PKU

Multifactorial characteristic- determined by multiple genes and environmental factors

o For example, human height