Let’s see How Dramatic Effect can be drawn by Point Mutation with Sandwich! 16 20091037 Hong Na-ri 17 20090553 Oh Yoon-jee 18 20090659 Lee Su-min

…There are 4 types of Point Mutation! Introduction to our Project Movie Silent mutation Missense mutation Point mutation Nonsense mutation Frameshift mutation Our Movie with Sandwich!! Bis222 Term Project 1

Introduction to our Project Movie Sequence of amino acids in polypeptide was specified by the sequence of nucleotides in the DNA or RNA. Bis222 Term Project 1

Introduction to our Project Movie Point mutation? Mutation with replacement of single base nucleotide in DNA or RNA, also with insertions or deletions of nucleotides. Bis222 Term Project 1

Introduction to our Project Movie How to show Dramatic Effect of Point mutation? For easy understanding and visual effect, We figured polypeptide as a sandwich, each amino acids as ingredients of sandwich! effect of mutation by change in taste of sandwich. Bis222 Term Project 1

Introduction to our Project Movie Match each codon of mRNA to each ingredient of sandwich A U G A A A G G G C C C U A G bread wrapper lattice ham cheese Bis222 Term Project 1

1 Silent Mutation DNA mutation that do not result in a change to the amino acid sequence of a protein. Silent mutation is due to code redundancy! New codon by mutation specifies the same amino acid as the unmutated codon. +) In molecule cloning experiments, silent mutation can control the effect of restriction enzymes. Bis222 Term Project 1

Silent Mutation in movie 1 Silent Mutation in movie Although G is changed to U, new codon GGU is matched to ‘ham’ which is also matched by former codon. A U G A A A G G U C C C U A G bread wrapper lattice ham cheese Bis222 Term Project 1

2 Missense Mutation DNA mutation that resulting altering an amino acid of polypeptide. It can change the function of polypeptide or not. New codon by mutation specifies the different amino acid as the unmutated codon. Case 1. may not alter protein function. Case 2. have dramatic effect on protein function. +) Sickle cell Anemia is caused by missense mutation, Glutamic acid is substituted into Valine Bis222 Term Project 1

Missense Mutation in movie 2 Missense Mutation in movie Case 1. two G are changed to U. So, new codon GUU is matched to ‘sausage’ which has similar taste with ham. A U G A A A G U U C C C U A G sausage Case 2. One C is changed to A. So, new codon CCA is matched to ‘soy-bean’ which makes dramatic effect on taste. A U G A A A G G G C C A U A G Soy-bean(된장!)

3 Nonsense Mutation DNA mutation that results in a premature stop codon in the transcribed mRNA. New codon is stop codon (UAA, UAG, UGA) which signals termination of translation. Result in an incomplete, short polypeptide. +) By, NMD(Nonsense Mediated mRNA Decay) , the formation of truncated proteins does not occur often in vivo. Bis222 Term Project 1

Nonsense Mutation in movie 3 Nonsense Mutation in movie Two G are changed to U and A. New codon UAG is stop codon which matched to ‘wrapper’. A U G A A A U A G C C C U A G bread lattice wrapper The process of making sandwich is over. Bis222 Term Project 1

4 Frameshift Mutation Caused by insertion or deletion of a number of nucleotides, changing the reading frame, and resulting in a completely different translation from the origin. Protein will be abnormally short or abnormally long. +) Tay-Sacs Disease is caused by frameshift mutation. It is lysosomal storage disorder. Bis222 Term Project 1

Frameshift Mutation in movie 4 Frameshift Mutation in movie U is inserted between two G and the frame is changed. The new codons made by insertion are matched to some materials that give dramatic effect. Change of reading frame A U G A A A G U G G C C C U A G There is a ‘big’ accident!! Bis222 Term Project 1

To understand our movie well.. Please remember that we choose the RNA sequence in normal case as A U G A A A G G G C C C U A G bread lattice ham cheese wrapper

Then…. Let’s enjoy our movie!! Let’s Start!! Bis222 Term Project 1