BIO102 Ch14c

Multiple Allelism

  • Definition: When a gene exists in more than two alleles within a population; this can result in many variations of a trait.
  • Example: Human blood types, which include three alleles (IA, IB, i)

Codominance

  • Definition: A situation where a heterozygote expresses both alleles equally, resulting in a phenotype that shows both traits.
  • Example: In human blood types, individuals with genotype IAIB express both A and B antigens on their red blood cells.

Incomplete Dominance

  • Definition: A form of inheritance where the phenotype of heterozygotes is intermediate between those of the two homozygotes.
  • Example: Four-o'clocks produce pink flowers (F1) when red (RR) and white (rr) flowered plants are crossed. In the F2 generation, the ratio of red, pink, and white flowers is 1:2:1.

Pleiotropy

  • Definition: A single gene influences multiple traits.
  • Example: Marfan syndrome is caused by mutations in a single gene that affects several connective tissue characteristics, including:
    • Nearsightedness
    • Scoliosis
    • Heart valve defects

Essential and Lethal Genes

  • Essential Genes: Required for survival; mutations may lead to lethal phenotypes.
    • Dominant Lethal Alleles: Causes death in both homozygous and heterozygous individuals (e.g., Huntington’s disease).
    • Recessive Lethal Alleles: Causes death only in homozygous recessive individuals (e.g., Tays-Sachs disease).

Gene Interaction and Novel Phenotypes

  • Two Genes Affecting One Trait: Interaction between different nonallelic genes can produce new phenotypes.
  • Example: In chickens, comb shape is influenced by two genes (R and P), leading to variations in their phenotype while following Mendelian ratios.

Epistasis

  • Definition: One gene locus masks or modifies the phenotype of another locus, resulting in altered phenotypic ratios.
  • Example: Coat color in rodents where certain alleles can mask others, leading to ratios like 9:3:4.
  • Types of Epistasis:
    • Recessive Epistasis: Homozygous recessive at one locus affects the phenotype of another locus (e.g., white coat in mice).
    • Dominant Epistasis: A dominant allele at one locus masks the expression of alleles at a different locus, resulting in ratios like 12:3:1.

Gene-By-Environment Interactions

  • Phenotype Expression: Many traits result from interactions between genes and environmental factors.

  • Penetrance: The proportion of individuals with a given genotype that exhibit the associated phenotype.

    • Complete Penetrance: 100% of individuals show the phenotype.
    • Incomplete Penetrance: Less than 100% show the phenotype (e.g., in some cancers).
  • Expressivity: The degree to which a penetrant gene manifests itself phenotypically. It can vary among individuals even with the same genotype.

Environmental Effects on Phenotype

  • Factors influencing phenotypes can include:
    • Age
    • Sex
    • Temperature
    • Chemical Exposures

Extranuclear Inheritance

  • Involves genes not located in the nucleus, such as those in mitochondria and chloroplasts.
  • Mitochondrial genes often exhibit maternal inheritance patterns, affecting energy production in cells.

Human Inheritance Patterns

  • Pedigrees are used to track traits through generations, helping identify recessive, dominant, autosomal, and sex-linked traits.

  • Autosomal Recessive Traits: Traits that often skip generations; affected individuals have unaffected parents who are carriers.

  • Autosomal Dominant Traits: Traits that do not skip generations and affected individuals usually have at least one affected parent.

  • Sex-Limited Traits: Traits that are only expressed in one sex, such as milk production in females.

  • X-Linked Recessive Traits: Typically skip generations and affect males more than females, as males only need one recessive gene to be affected.

  • X-Linked Dominant Traits: Affects both males and females but cannot be passed from father to son.

Y-Linked Traits

  • Contain genes primarily responsible for male sexual development; very few known traits are associated with the Y chromosome.