BIO 2133 Lecture Notes - Lecture 1: Wild Type, Exon, Lactase

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Explain, using diagrams, how nucleotide changes result in the alteration of protein activity. Explain why some mutations do not affect protein structure and function. Describe how mutations arise and how environmental factors can increase mutation rates. Cite examples of mutations that can be bene cial to organisms. Explain why some dna damage events and dna replication errors do not result in mutations. Distinguish between loss-of-function-mutation and gain-of-function mutations and their potential consequences. Predict the most likely effects on protein structure and function of null, reduction-of-function, overexpression, dominant-negative, and gain-of-function mutations. Explain gene expression and phenotype expression in terms of dna translation and rna transcription. Foxp2 gene is involved in development of speech. In 1990, scientist became interested in the ke family in london. Half of the family members have speech disorders. This was something that doctors haven"t seen before. Most likely due to an autosomal dominant mutation.

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