Extensions to
Mendel
Complexities in
relating
genotype to
phenotype
Outline of extensions to
Mendels analysis
Single-gene inheritance
In which pairs of alleles show deviations from
complete dominance and recessiveness
In which different forms of the gene are not
limited to two alleles
Where one gene may determine more than one
trait
Multifactorial inheritance in which the
phenotype arises from the interaction of
one or more genes with the environment,
chance, and each other
Dominance is not always
complete
Crosses between true-breeding
strains can produce hybrids with
phenotypes different from both
parents
Incomplete dominance
F1 hybrids that differ from both parents
express an intermediate phenotype.
Neither allele is dominant or recessive to
the other
Phenotypic ratios are same as genotypic
ratios
Codominance
F1hybrids express phenotype of both
Summary of dominance
relationships
Fig. 3.2
Incomplete dominance in
snapdragons
Fig. 3.3
Codominant lentil coat
patterns
Fig. 3.4a
Codominant blood group
alleles
Fig. 3.4b
Do variations on dominance
relations negate Mendels
law of segregation?
Dominance relations affect phenotype and
have no bearing on the segregation of
alleles
Alleles still segregate randomly
Gene products control expression of
phenotypes differently
Mendels law of segregation still applies
Interpretation of phenotype/genotype
relation is more complex
Human blood type is an
example one trait that is
determined by multiple
alleles
no
Biochemical basis of ABO
blood group
Individual crosses between purebreeding lines for a trait controlled by
multiple alleles can be used to establish
a dominance relationship
How do multiple alleles arise?
Mutation
Pleiotropy: a single gene
influencing
more than one characteristic
Sickle-cell anemia as a
comprehensive
example
Different
Multiple alleles
Recessive lethality
Pleiotropy
Fig. 3.10
dominance
relationships
The interaction of two genes
to effect one trait
Fig. 3.11
Epistasis: effects of a gene mask the effects
of another
The homozygous recessive bb will
cause the color gene A to be blocked Homozygous dom gives different color than
heterozygous dom
Dominant: Color1(enzyme A)Color YellowEnzyme (E_) BrownEnzyme (B_)
2(enzyme B) Purple
black
Recessive: Color 1(NO enzyme A) YellNo enzyme (ee)yellow nothing for
enzyme to act on yellow
Color 1(enzyme B cant act)
YellowEnzyme (E_) brown no enzyme
colorless
(bb) brown
The Bombay phenotype another
example of recessive epistasis
How can two parents of blood
type O
Have a child that is blood type
A?
Parents genotype: ii H_ x IA_ hh
Substance H for sugars to
bind to
With hh there is no substance
h(substrate) for the sugars
from A or B types to bind to
Fig. 3.14
Biochemical basis of ABO
blood group
12:3:1 or 13:3 ratio typify
dominant epistasis
Fig. 3.15
Heterogenious traits: many genes
give rise to a phenotype
Fig. 3.16
Genetic cross can be used to determine the
mechanism of inheritance for a trait
df
Summary of multifactorial traits
Genes can interact to yield novel
phenotypes
Gene interactions can display epistasis,
where an allele of a gene can mask the
effects of another gene
One trait can be influenced by many
different genes
The same genotype does not
always yield the same
phenotype
Penetrance: the percentage of a population with a
particular genotype that show the expected phenotype.
Dominant inheritance
V-2 incomplete penetrance
Expressivity: degree with which a genotype is expressed in
a phenotype. Phenotype shows more than another
individual with the same genotype
Environment can affect
phenotypic expression of a
genotypeEnzyme is temperature
sensitive and is
functional at extremities
Continuous traits vary within a
population over a range
There are multiple genes(more
than 3) that affect the resulting
phenotype
Causes broad variation (EX:
height, skin color)
Each gene that contributes to a
continuous or quantitative trait
are referred to as quantitative
trail loci or QTLs
Mendelian explanation of
continuous variation
Fig. 3.22
Cross
Rati
o
3:1
Heterozygo
us (Aa x Aa)
Type
Normal Heterozygous cross
Incomplete Dominance: heterozygote
resembles neither homozygote (blending)
1:2:1
Codominance: both parental phenotypes
expressed
2:1
Lethality: homozygosity for either dominant or
recessive causes death
9:3:3 Normal dihybrid cross
:1
9:7
Dihybrid
(AaBb x
AaBb)
9:3:4
Complementary: recessiveness for either of
the two genes disrupts enzyme path and
prevents expression
Recessive epistasis: homozygous recessive of
one gene masks both alleles of another gene
Dominant epistasis I: dominant allele of one
12:3: gene hides effects of both alleles of another
1
gene. Dominance on one gene prevents
expression of other gene.