Relationship between Genotype and Phenotype

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Presentation transcript:

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

Enhanceosomes and Synergistic Effect on Transcription Enhanceosome: protein complex of trans-acting factors bound to appropriate DNA sequences. Proteins interact synergistically to elevate transcription rate. In b-interferon gene transcription, TFs recruit a coactivator (CBP) which is needed for transcription to occur normally. Formation of the enhanceosome and activation of RNA polymerase by coactivator are necessary for efficient transcription. Transcription of b-interferon gene is activated during viral infection.

b-interferon enhanceosome: Surrounded by two nucleosomes, nuc1 and nuc2. nuc2 covers TATA box and transcription start site. Co-activator GCN5 acetylates nuc1 and nuc2. Acetylation leads to recruitment of co-activators, chromatin remodeling complex, and RNA pol II.

Tissue-specific Regulation of Transcription Regulated transcription depends on: - specific enhancer for gene(s) - enhancer-specific activator proteins - correct interaction between enhancer and activator Tissue-specific regulation requires that the enhancer-specific activator is present only in cells of that tissue type. ectopic expression: expression in an abnormal location

“Master Switch” Gene Eye formation requires over 2000 genes. eyeless (ey) mutation causes small rudimentary eyes to form in Drosophila melanogaster. Small eyes (Sey, Pax-6) in mouse causes similar phenotype. Aniridia gene in human (lack of normal iris) shows considerable homology to ey gene.

Comparison of ey+ and ey Phenotypes Wild-type eyes eyeless (ey) eyes size of ey eyes

eyeless (ey) gene codes for a helix-turn-helix transcription protein. “Master Switch” Gene Wild-type eyeless (ey) gene can be induced to be expressed ectopically. eyeless (ey) gene codes for a helix-turn-helix transcription protein.