April 21, 2011 Why is DNA double stranded? If I compared the DNA of a human to that of a whale, what similarities would they have? Differences? *** Bring up the handout from the BOOK (“Study Guide”); make sure your name is on it!
Mutations What are they? Can be Changes in DNA or RNA Sequence Beneficial Sickle Cell Anemia carriers are less likely to contract malaria Ability to digest lactose Neutral Harmful Genetic disorders
Mutations Can only be passed to future generations if they occur in a sex cell Aka gamete Sperm/egg
Types of Mutations: Least Harmful Point mutations Change in one base only Results in one amino acid change, early stop of translation, or no change at all Three types Silent Missense Nonsense
Types of Mutations: Least Harmful Silent mutation One base changes, no change in amino acid Original DNA: ATACGGCATGGGCACTAGG Original mRNA: UAUGCCGUACCCGUGAUCC Original AA: M, P, Y, P, Stop Mutated DNA: ATACGGCATGGGGACTAGG Mutated mRNA: UAUGCCGUACCCCUGAUCC Mutated AA: M, P, Y, P, Stop
Types of Mutations: Least Harmful Missense mutation One base changes and one amino acid changes Original DNA: ATACGGCATGGGCACTAGG Original mRNA: UAUGCCGUACCCGUGAUCC Original AA: M, P, Y, P, Stop Mutated DNA: ATACGGCAGGGGCACTAGG Mutated mRNA: UAUGCCGUCCCCGUGAUCC Mutated mRNA: M, P, S, P, stop
Epidermolysis bullosa Sickle Cell Anemia Some forms of Cystic Fibrosis (respiratory) & ALS (Lou Gehrig’s Disease, nervous system & muscles) Epidermolysis bullosa
Types of Mutations: Least Harmful Nonsense mutation One base changes, results in early stop (short protein) Original DNA: ATACGGCATGGGCACTAGG Original mRNA: UAUGCCGUACCCGUGAUCC Original AA: M, P, Y, P, Stop Mutated DNA: ATACGGCATCGGCACTAGG Mutated mRNA: UAUGCCGUAGCCGUGAUCC Mutated mRNA: M, P, stop
Duchenne Muscular Dystrophy Hurler Syndrome (disorder associated with lysosomes)
Types of Mutations: Next Harmful Frameshift mutation Base is added in or deleted, shifting the reading frame Many amino acids change, could end protein early or make it extra long Original DNA: ATACGGCATGGGCACTAGG Original mRNA: UAUGCCGUACCCGUGAUCC Original AA: M, P, Y, P, Stop Mutated DNA: ATACGGCATGTGGCACTAGG Mutated mRNA: UAUGCCGUACACCGUGAUCC Mutated AA: M, P, Y, T, V, I
Tay Sachs Disease
Types of Mutations: Most Harmful Chromosomal Large sections of DNA are flipped around, duplicated/copied, removed, etc
Charcot Marie Tooth Disease Jacobsen Disorder
Causes of Mutations Spontaneous (Random chance) Mutagens During DNA replication (copying) when cells divide During transcription (DNA mRNA) Mutagens External things that increase likelihood of mutations occurring Radiation Chemicals (benzene, cyanide, asbestos, etc)
Repairing DNA Enzymes proofread DNA and RNA If enzymes are exposed to mutagens, they are likely to mutate and then won’t do their job correctly.