Molecular Biology & Genetics (BIOL1018) Genetics

Lecture 3 Test Cross Mendel concluded that it should be possible to determine genotype by crossing an individual with a mate that shows recessive traits. Remember, a recessive phenotype can only be a recessive genotype. This strategy is known as a test cross. If an organism is test crossed and it produces only the dominant phenotype the genotype is homozygous dominant. If an organism is test crossed and it produces both the dominant and recessive phenotypes the genotype is heterozygous. Modifications in Gene Expressions Monohybrid Cross In his monohybrid cross, Mendel concluded that the characteristics that appeared were dominant and those characteristics that were lost were recessive. However, there are some instances when the dominant trait is not fully or solely expressed. This may be due to incomplete dominance or codominance. Incomplete Dominance occurs in the

Phenotypic

blending

heterozygote Even though the parents are true breeding, the heterozygous offspring are a blend of the parents phenotype Snapdragon plants with red flowers crossed with plants with white flowers produce offspring with pink flowered plants The phenotype is a blend of that produced by each allele when homozygous

Monohybrid Cross
F1 Generation RR rr

F2 Generation

Rr
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Codominance In some cases where opposing genes of the same expression are present together, both exert an effect on the phenotype

Monohybrid Cross
F1 Generation RR rr

F2 Generation

Rr
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The resulting character appears to be a blend of the two contrasting types An example of this is roan cattle A red bull crossed with a white cow produces roan offspring In the heterozygous offspring, some hairs are red and some are white Genetic Interactions Phenotypic Modifications Epistasis

The expression of a pair of alleles is influenced by the genotype at other loci on the chromosomes An example of this is albinism in humans o Dark skin, eye and hair colour are controlled by the production of melanin o The production of melanin requires the activity of a certain enzyme which is controlled by the gene at locus A o If a person carries two alleles (aa), the inactive enzyme is produced o Hence, regardless of the presence of the dominant gene controlling skin, eye and hair colour, individuals with the homozygous recessive alleles will lack eye, skin and hair colour

Phenotypic Modifications
Bb Bb

Phenotypic Modifications
BbCc BbCc

1
BB

2
Bb
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1
bb

B_C_

B_cc

bbcc

bbC_

4
Cell Biology and Genetics BL10J/BIOL1013

If the dominant allele (A) at one locus produces a certain phenotype regardless of the allelic condition at another locus (B), locus A is epistatic to locus B Locus B is said to be hypostatic to A

Phenotypic Modifications
BbCc BbCc

Phenotypic Modifications
BbCc BbCc

B_C_

bbC_

B_cc

bbcc

B_C_

bbC_ B_cc

bbcc

9 12

3 3

1 1

9 9

3 3

3 4

Dominant Epistasis

Recessive Epistasis

If the epistatic allele expresses itself in the heterozygous form, it exhibits dominant epistasis (Phenotypic Ratio 12:3:1) If the epistatic allele only expresses itself in the recessive genotype, it exhibits recessive epistasis (Phenotypic Ratio 9:3:4) Lethal Genes Lethal genes are genes whose effect are so drastic that they result in the death of the bearer of certain genotypes

Phenotypic Modifications

GgTt

GgTt

3 9
G_T_

1 3
G_tt

3
ggT_

1
ggtt

Cell Biology and Genetics BL10J/BIOL1013

Such is the case in the above example where the recessive gene for colour (gg) is lethal, resulting in the death of all offspring with the homozygous recessive genotype

Pleiotropism

In many cases, the phenotypic expression of a gene may involve more than one trait The trait that is clearly evident is termed the major effect The less evident traits are termed the secondary effects All the phenotypic expressions of a single gene are called the pleiotropic gene effects The effect of a gene on many diverse characteristics is called pleiotropism Polygenic Inheritance

So far, we have discussed inheritance on the basis of discontinuous characteristics (Seed shape and colour) However many traits display continuous variation (Human height and skin colour) Traits that vary continuously are determined by a number of different genes present at different loci This phenomenon is known as polygenetic inheritance Environmental Influences

Most phenotypes are influenced by the environment As a result, two organisms with the same genotype may have different phenotypes in different environments Environmental alteration of phenotype can affect single-gene and polygenic traits A light skinned person living in a sunny climate is likely to be darker than someone genetically similar, living in an overcast climate Penetrance and Expressivity

A gene may be present but may not become expressed for some reason Such a gene is said to be NON-PENETRANT In other cases, the gene is expressed in some of the individuals In such a case, the gene is said to be PENETRANT

The percentage of individuals that may and do show the effect of a gene in their phenotype is the % penetrance of the gene When penetrant, a gene may exert an effect which varies between full expression and non-penetrance The degree to which a penetrant gene affects the phenotype is known as its expressivity