Relationship between Genotype and Phenotype

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Relationship between Genotype and Phenotype Molecular Basis for Relationship between Genotype and Phenotype genotype DNA DNA sequence transcription RNA translation amino acid sequence protein function phenotype organism

One Gene/One Enzyme Hypothesis (Beadle and Tatum) Wild-type Neurospora crassa (red bread mold) is prototrophic. Prototrophs are able to grow on minimal medium. Minimal medium contains only inorganic salts, simple carbon source, and water. Auxotrophs require nutritional supplement(s) for growth.

One Gene/One Enzyme Hypothesis (Beadle and Tatum) Conidia are mutagenized with X-ray. Possible mutants are crossed to wild-type and individual ascospores are cultured on complete (permissive) medium. Cultures are plated on minimal medium and auxotrophs are isolated. Auxotrophs are tested for nutritional requirement.

One Gene/One Enzyme Hypothesis (Beadle and Tatum) Each requirement for a specific nutrient (mutant effect) followed Mendelian pattern of inheritance. Beadle and Tatum deduced that each mutant was deficient for an essential enzyme in a biosynthetic pathway. A_ B_ enzyme A enzyme B compound X compound Y compound Z A_ bb enzyme A compound X compound Y

One Gene/One Polypeptide Not All Gene Products are Enzymes! One Gene/One Enzyme One Gene/One Polypeptide (structural proteins, subunits) One Gene/One Product (rRNA, tRNA)

Relationship between Genotype and Phenotype Molecular Basis for Relationship between Genotype and Phenotype genotype DNA DNA sequence transcription RNA translation amino acid sequence protein function phenotype organism

Gene Sites Sensitive to Mutation null if splice junction is affected no effect if mutation is in the middle of the intron or not the branch point Refer to Figure 2-13, Griffiths et al., 2015.

Relationship between Genotype and Phenotype Molecular Basis for Relationship between Genotype and Phenotype genotype DNA DNA sequence transcription RNA translation amino acid sequence protein function phenotype organism

Complementation Analysis Mutations that affect the same locus produce mutant alleles for that locus. Such alleles belong to the same complementation group. Trans Allelic Non-Allelic + m2 + m2 m1 + m1 + Mutant Wild-type Mutant alleles complement if wild-type phenotype results when two haploid genomes carrying different mutations are united in the same cell.

How many loci are represented here? Mutant I X Mutant II F1 a b c d e f o + + o o + a + o + + + + b + + o + + o c o + + o o + d o + + o o + e + + o + + o f