BIOL 234 - L2 (post) - Mutations and Phenotype Lecture 2...

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Mutations and Phenotype Lecture 2 BIOL 234 May 17, 2017 BIOL 234 summer 2017 L2
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Learning objectives Predict the effects on RNA transcript, protein composition, protein activity, and phenotype of various mutations in any given region of a gene of known function Single base pair substitution, deletion, insertion, inversion, translocation For a gene of known function, predict if various mutations result in a wild-type-like, gain-of-function, or loss-of-function allele BIOL 234 summer 2017 L2
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Learning objectives Given a phenotype (related to a known gene or DNA sequence), predict the type of mutation that could have caused it Consider multiple alleles of a specific locus/gene, and be able to predict allelic interactions Dominant/recessive Consider at the level of mRNA, protein, whole organism Understand how PCR can be used to genotype/phenotype individuals BIOL 234 summer 2017 L2
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Review Phenotype : observable/measurable characteristics resulting from a particular genotype (possibly with environmental influence) Genotype : the particular allele(s) that an individual has at one or more loci BIOL 234 summer 2017 L2
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Mutations and phenotype Consider phenotype at the level of: mRNA (transcript size, expression level) Protein (size, amount, function) Cellular form and function Whole organism (form and function) BIOL 234 summer 2017 L2
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Mutations and phenotype: cystic fibrosis Mutations in the Cystic Fibrosis Transmembrane Regulator (CFTR) Wild-type : transports ions (Cl - ) across the cell membrane of respiratory epithelial cells Water is drawn out of the cell by osmosis BIOL 234 summer 2017 L2
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Mutations and phenotype: cystic fibrosis ΔF508 mutant : non-functional Water is retained in the cell Phenotype: Fluid/mucus build-up Low fertility (esp. in males) Reduced life span BIOL 234 summer 2017 L2
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Mutations and phenotype: cystic fibrosis BIOL 234 summer 2017 L2 Data from the CF Genetic Analysis Consortium – July 1995
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