HMB265H1 Chapter Notes - Chapter 3: Missense Mutation, Nonsense Mutation, Silent Mutation

• School: UTSG
• Department: Human Biology
• Course: HMB265H1
• Professor: Maria Papaconstantinou

Document Summary

Chapter 2 (emphasis on pages 22-23); chapter 7 (emphasis on pages 215-219); Chapter 8 (emphasis on pages 236-239); chapter 15 (emphasis on pages 491-500) Pea shape gene encodes an enzyme known as sbe(starch branching enzyme ) Catalyze conversion of unbranched starch to branched starch (more starch made ) Dominant allele of the gene causes the formation of sbe1 enzyme. Protein cystic fibrosis transmembrane conductance regulator (cftr) controls the flow of chloride ion into and out of the cell. Normal allele produces cftr that regulates ion exchange good pressure. Patient: abnormal protein cannot be inserted in membrane --: lack cl channel. Gene expression in c elegans involved trans-splicing and polycistronic transcripts. C elegans transcribes some groups of adjacent genes as one long polycistronic primary transcripts. The effect of mutations on gene expression and gene function. Mutations in a gene"s coding sequence may alter the gene product. Silent mutation: do not alter protein"s primary structure.