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G E N E T I C S-1

MODULE 4
EXTENSION OF MENDELIAN INHERITANCE-1
INTRA-ALLELIC INTERACTIONS
G E N E T I C S-I
LEARNING OUTCOMES
• Define the Central Dogma of Biology.

• Explain the non-conformance of empirical phenotypic ratios


with expected Mendelian ratios.

• List the modifying factors that change the Mendelian


phenotypic ratios.

• Demonstrate that intra-allelic interactions stem from the


relationship between alleles of the same gene.

• Outline and explain the various intra-allelic relationships and


the underlying biochemical basis of each one.
G E N E T I C S-I
MENDELIAN GENOTYPIC AND PHENOTYPIC RATIOS

• The 3:1 monohybrid (F2) and the 9:3:3:1 dihybrid (F2)


ratios are referred to as Mendelian phenotypic
ratios.

• Modifying factors are those that can alter the


Mendelian phenotypic ratios of 3:1 and 9:3:3:1.

• Mendelian genotypic ratios are NOT changed; they


remain the same.
G E N E T I C S-I
Extension of Mendelian inheritance and the Central Dogma
replication
• Modifying factors affect reverse
the genotype-phenotype transcription
relationship. DNA

• Modifying factors can be transcription


replication
classified into:
• Intra-allelic RNA
interactions
translation
• Inter-allelic
interactions (Epistasis) PROTEIN
ENZYME
• Environmental END
influences. SUBSTRATE PRODUCT
Phenotype
G E N E T I C S-I
Extension of Mendelian inheritance- allelic interactions
Intra-Allelic Interactions (‘Intra’ means ‘within’)
These are interactions between alleles of a single gene locus.

Inter-Allelic Interactions (‘Inter’ means ‘between’)


These are interactions between alleles of different gene loci that
affect the same character/phenotype.
G E N E T I C S-I
INTRA-ALLELIC INTERACTIONS
Dominance Relationships:
• Complete dominance (Mendel)
• Incomplete dominance
• Co-dominance
• Over dominance
• No dominance (additive effects)
Lethality Conditions:
• Homozygous recessive: e.g. Cystic • Homozygous dominant: e.g.
Fibrosis (sticky mucous in lungs, Yellow coat colour of mice;
respiratory infections, death at age Yellow colour is dominant, but
30) only exist as heterozygotes.

Sickle cell anaemia; Albinism in maize. Huntington’s disease in humans


G E N E T I C S-I
COMPLETE DOMINANCE: A Biochemical Basis

Genotypic ratio 1 : 2 : 1

Phenotypic ratio 3 : 1

Non- functional
enzymep
2 [enzymeP] 1 [enzymeP]

SUBSTRATE END PRODUCT


(limited)
NOTE: As long as functional enzyme is present, reaction is catalysed to give end product
G E N E T I C S-I
COMPLETE DOMINANCE
PP pp
Flower colour in
Pisum sativum

Pp

Pp Pp

PP Pp Pp pp
G E N E T I C S-I
INCOMPLETE DOMINANCE

• The phenotype of the heterozygote is intermediate between that


of the two homozygotes.

• At the biochemical level, the homozygous dominant individuals


can produce twice as many functional enzymes as the
heterozygotes.

• The F1 heterozygotes DO NOT resemble their homozygous


dominant parents as was seen for complete dominance.

• The classic monohybrid Mendelian phenotypic ratio of 3:1 is


altered to 1:2:1.
G E N E T I C S-I
Incomplete Dominance: A Biochemical Basis

Genotypic ratio 1 : 2 : 1

Phenotypic ratio 1 : 2 : 1

Non- functional
enzymec
2 [enzymeC] 1 [enzymeC]

SUBSTRATE END PRODUCT


(unlimited)
NOTE: The higher the concentration of enzyme, the more end product (different phenotype)
G E N E T I C S-I
Incomplete Dominance: Horse hair colour
G E N E T I C S-1
CO-DOMINANCE

• The phenotype of the heterozygote is NOT A BLEND of the two


homozygous parents.

• Each homozygote produces a distinct gene product.

• The heterozygote produces the gene products of both


homozygotes.
G E N E T I C S-1
Co-dominance: A Biochemical Basis
Genotypic ratio 1 : 2 : 1

Phenotypic ratio 1 : 2 : 1

1 1
2 [enzymeR] [enzymeR] [enzymer] 2 [enzymer]

END
SUBSTRATE PRODUCT 1

END
PRODUCT 2
G E N E T I C S-1
RR rr CO-DOMINANCE

Red Coat colour in short horn cattle


White
Cattle Cattle

Rr
Roan
Cattle
G E N E T I C S-1
G E N E T I C S-1
OVER-DOMINANCE
• The heterozygotes show a greater phenotypic value than both
homozygotes.

e.g. Eye fluorescence in Drosophila melanogaster

FF = fluorescent eyes; ff = white eyes

Ff = increased eye fluorescence

Phenotypic value over-dominance


ff FF Ff
homozygous homozygous heterozygous
recessive dominant
G E N E T I C S-1
Over-dominance: A Biochemical Basis
Genotypic ratio 1 : 2 : 1

Phenotypic ratio 1 : 2 : 1

1
2 [enzymeF] [enzymeFf] 2 [enzymef]
Non-Functional
SUBSTRATE FLUORESCENCE

NOTE: The hybrid enzyme is more efficient at converting substrate


into end product than the enzymes produced by the homozygotes.
G E N E T I C S-1
NO-DOMINANCE
• Neither of the alleles is dominant over the other

• Each allele contributes a certain phenotypic value i.e., they have


an additive effect.

e.g. Plant height

Allele ‘A’ contributes 4 cm. Allele ‘a’ contributes 2 cm.

AA = 8cm
Genotypic Ratio- 1:2:1
Aa = 6cm
Phenotypic Ratio- 1:2:1
aa = 4cm
G E N E T I C S-1
NO-DOMINANCE (additive effects)
AA Aa aa
2E A EA+ Ea 2Ea

Substrate Hormone

EA = 4 cm height; Ea = 2 cm height; EA + Ea = 6 cm

Phenotypic ratio = 1: 2: 1 (AA= 8cm;


Aa = 6 cm & aa = 4 cm)
G E N E T I C S-1
SUMMARY
• Modifying factors
• Modify the Mendelian phenotypic ratios
• Constitute intra-allelic, inter-allelic interactions and
environmental influences

• Intra-allelic interaction includes


• Dominance relationship between alleles of a gene locus
• Lethal allelic combinations.

• Dominance relationships have a biochemical basis


• Complete dominance
• Incomplete dominance vs. co-dominance
• Over dominance vs. no dominance .