Extensions 2
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World-class Extensions of Mendelian Genetics II
Chapters: 14 and 15 (Concepts 14.3 and 15.5)
Reference: Campbell Biology, 12th Edition
True or False?
Statement: Alleles of one gene can mask or modify the expression of another gene.
Learning Objectives
Describe epistasis.
Define polygenic inheritance.
Understand the basis of non-Mendelian inheritance.
Explore the concept of genomic imprinting.
Analyze the inheritance of organelle genes.
Extending Mendelian Genetics for Two Genes
Example: Coat Color Dilution
Concept: Autosomal recessive gene that creates a lighter coat color.
Requirement: Two copies of the dilute allele are necessary to produce the phenotype.
Epistasis
Definition: A type of gene interaction where the phenotypic expression of one gene alters the expression of another gene.
Example: Labrador Retrievers
Gene 1: Black coat color (B) is dominant to brown (b)
Gene 2: Pigment deposition (E) is dominant
The gene (E/e) is epistatic to the gene (B/b).
Dihybrid Cross and Epistasis
Cross Analysis:
Sperm: BbEe
Eggs: BbEe
To calculate offspring genotypes:
1/4 BE
1/4 bE
1/4 Be
1/4 be
Genotypes of Offspring:
BBEE, BbEE, BBEe, BbEe, bbEE, BbEe, bbee, etc.
Phenotypic Ratio:
9:3:4 pattern observed in phenotypes when considering epistasis.
Detailed Mechanism of Epistasis
Interaction of proteins in coat coloration:
Colorless Protein E: Stimulates eumelanin synthesis when present.
Protein B: Responsible for eumelanin deposition.
Interaction Outcomes:
Eumelanin deposited densely with BB, Bb, or ee.
No eumelanin deposited with ee resulting in light coloring (e.g., Pheomelanin).
Extending Mendelian Genetics for Many Genes
Polygenic Inheritance
Definition: An additive effect of two or more genes on a single character.
Variations characterized as quantitative characters.
Environmental Influences: Traits that are multifactorial and influenced by the environment.
Examples: Skin color, height, and weight.
Polygenic Inheritance Example: Height
Controlled by multiple genes (A, B, C):
Each “tall” allele (A, B, or C) contributes to one unit of tallness.
Allelic Combinations:
AABBCC = very tall (6 units)
aabbcc = very short (0 units)
AaBbCc or AABbcc = intermediate height (3 units)
Implications of Incomplete Dominance: Presence of alleles creates cumulative effects on phenotype.
Genetic Impact on Birth Weight in Beef Cattle
Studies indicate 121 genetic markers linked to 103 genes influence birth weight.
Graph depicting the correlation of genetic markers across different chromosomes showing statistical significance.
The Environmental Impact on Phenotype
Influences Examples:
Wind and Sun: Affects tree leaves’ size, shape, and greenness.
Nutrition: Affects height and weight.
Experience: Correlates with intelligence.
Soil Quality: Influences flower coloration in plants (e.g., pink to blue in hydrangeas affected by soil pH).
Multifactorial Characters
Traits that depend on multiple genes combined with environmental influences.
Phenotypic range is dependent on the environment in which genotype is expressed.
Case Study: Hydrangea Flowers
Soil Acidity: Affects color; acidic soil leads to bluer flowers due to free aluminum availability.
Temperature Sensitivity in Siamese Cats
Temperature-sensitive enzyme: Active at lower temperatures, inactive in warmer temperatures; explains dark extremities on cooler areas of the body.
Genomic Imprinting
Concept illustrating that some phenotypes depend on parent-origin alleles.
Involves gene silencing during gamete formation.
Affects only a small fraction of mammalian genes, often that are critical for embryonic development.
Case Study: IGF2 Gene
Function: Required for normal prenatal growth.
Expression Pattern: Only paternal allele is expressed.
Organelle (Extranuclear) Genes
Found in organelles such as mitochondria and chloroplasts.
Inheritance: Maternally inherited due to zygote cytoplasm originating from the egg.
Human Examples of Mitochondrial Genes
Diseases: Mitochondrial myopathy, Leber’s hereditary optic neuropathy, affecting ATP production which leads to muscular and nervous system disorders.
Lesson Recap
Key topics reviewed:
Epistasis
Polygenic inheritance
Non-Mendelian inheritance
Genomic imprinting
Inheritance of organelle genes